SlideShare a Scribd company logo
1 of 44
Download to read offline
Multiple endocrine neoplasia
Type 1
Abhilash
Introduction
• Rare hereditary cancer syndrome.
• “Wermer’s syndrome”
• Tumors of
1. Parathyroid gland(95% of cases)
2. Endocrine gastroenteropancreatic tract (30-
80% cases)
3. Anterior pituitary (15-90% cases)
• Other neoplasms
– Adrenocortical tumors
– Thyroid tumors.
– Visceral and cutaneous lipomas.
– Meningiomoas.
– Facial angiofibromas
– Collagenomas
– Thymic, gastric and bronchial carcinoids.
Multiple endocrine neoplasia type 1
• Usually have a family history of MEN1.
• Autosomal dominant.
• MEN1 gene mutations -70-95% MEN1
patients.
• Leading cause of mortality – entero-pancreatic
gastrinomas, thymic and bronchial carcinoids.
Epidemiology
• Incidence 1 in 30,000.
• M:F=1:1
• No racial or ethnic predilection.
• Diagnosis before 10 years of age is rare.
Historical background.
• Erdheim reported 1st case of MEN1 in 1903.
• Cushing and Davidoff reported classical MEN1
triad in 1920s.
• Underdahl – first review of 14 cases of MEN1
• Wermer in 1954 – MEN1 –Autosomal dominant.
• 1988- MEN1 locus mapped to 11q13
• 1997 – MEN1 mutations confirmed to cause
MEN1 syndrome.
Pathogenesis
• Knudsons two hit model for tumor suppressor
gene carcinogenesis.
• First hit – heterozygous MEN1 germline
mutation inherited from parents.
• Second hit – MEN1 somatic mutation-
deletion
Genetics
• MEN1 gene mutation in 75-90% cases.
• Highly penetrant.
• 50% symptomatic by 20 years of age. 95% are
symptomatic by 40 years of age.
• Environmental modifiers unknown.
Parathyroid glands
• PHPT – most common in MEN1.
• More than 95% by 50 years of age.
• First manifestation in 90%.
• Multiglandular and earlier in onset than
sporadic.
• Symptoms of hypercalcemia.
• Hypercalcemia may increase gastrin secretion
from gastrinoma
Multiple endocrine neoplasia type 1
GEP tract NETs
• Second most common manifestation of MEN1
• 30-80% cases.
• Multiple nodular lesions.
• 2/3rd are functional.
• Gastrinomas 54%, Insulinomas 15%.
• Non functional and insulinomas are present in
pancreas. Gastrinomas in submucosa of
duodenum and soft tissue around pancreas.
Gastrinomas
• 54% of GEP NETs
• 90% located in duodenum.
• ZES – esophagitis, vomiting, epigastric pain,
diarrhea, duodenal ulcers, jejunal ulcers
• 40% manifest before age of 40.
• Frequently multiple and malignant.
• Pancreatic has worse prognosis due to liver
metastasis.
• Other poor prognostic factors – very high gastrin
levels, ectopic cushings and liver metastasis
Insulinomas
• 10% MEN1 patients
• Usually occur in third decade.
• Single or multiple macroadenomas.
• Benign.
• May present with hypoglycemia responsive to
glucose.
Glucogonomas
• Rare.
• Usually as single macroadenoma>3cm.
• Skin rash(necrolytic migratory erythema),
venous thrombosis, anemia, diarrhea,
anorexia, weight loss, stomatitis,
hyperglycemia, hyperglucogonemia.
Multiple endocrine neoplasia type 1
VIPomas
• Rare.
• WDHA syndrome.
• Watery diarrhea, hypokalemia, achlorhydria.
PP omas
• Secrete pancreatic polypeptide.
• No clinical significance.
Anterior pituitary tumors
• Occurs in 15-90% of cases.
• Usually single.
• Invasive in 15-20 %, Malignant change – rare.
• Symptoms – hormone, size related.
• Bitemporal hemianopia and other visual field
defects.
• 60%- prolactin, 25% -GH, 3%- ACTH
• Mean age of diagnosis is 40 years.
Prolactinomas
• Most common pituitary
tumors in MEN1.
• Galactorrhoea,
amenorrhea, infertility in
women, hypogonadism,
sexual dysfunction,
impotence.
GH secreting tumors
• Second most frequent.
• Gigantism in children and
acromegaly in adults.
Other MEN1 associated tumors
• Adrenocortical tumors – 20-40% of MEN1.
Most are non functional.
• Functional tumors can cause hypercortisolism
, cushings, hyperaldosteronism.
• Pheochromocytoma - <1% cases. Unilateral.
• Thyroid tumor – adenoma/colloid/carcinoma.
In 25%. Association may not be significant.
Carcinoid tumors
• Occurs in 10% of MEN1.
• GI tract, pancreas, bronchi, thymus.
• Thymic carcinoids are aggressive and often
lethal.(mainly male smokers)
• Bronchial carcinoids are indolent.
• Carcinoid syndrome – rare – flushing attacks
and dyspnea
Collagenomas and facial angiofibromas
• Collagenomas >70 % cases – multiple, skin
coloured cutaneous nodules. Asymptomatic.
• Multiple facial angiofibromas – 40-90% MEN1.
• Benign tumors. Acneiform papules.
LIPOMAS
• 20-30% MEN1 cases
CNS
• Meningiomas – 8%
• Ependymomas – 1%
Diagnosis
• Biochemical abnormalities with clinical
features in age <40 years can be suggestive of
MEN1.
• Mutational analysis of MEN1 gene
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 1
Parathyroid tumors.
• Serum PTH.
• Serum Calcium.
GEP NETS
• EUS – most sensitive
• Endoscopy and EUS for duodenal gastrinomas.
• 111In DTPA octreotide scan for pancreatic islet
imaging – to assess spread of disease and liver
metastasis.
• Functional tumors according to the hormone
released.
• Chromogranin A
Gastrinomas
• Elevated serum fasting gastrin.
• Increased basal gastric acid secretion.
• Secretin stimulated gastrin test.
Insulinomas
• 72 hour fasting protocol.
• Fasting hypoglycemia reversed with glucose
with high insulin, elevated C peptide levels
and proinsulin levels.
Prolactinomas
• MRI
• Fasting prolactin levels 20 fold than upper
limit of normal is diagnostic.
• Adrenocortical tumors – EUS most sensitive.
• Biochemical test – DHEA, normetanephrine,
epinephrine, VMA, norepinephrine.
• Pheochromocytoma – Biochemical tests –
Increased urinary catecholamines and
metabolites.
• Tumor localization by CT/MRI
• Carcinoids – CT or MRI of chest.
• Endoscopy for gastric carcinoids
• Urine 5HIAA, chromogranin A, calcitonin,
corticotropin
Multiple endocrine neoplasia type 1
Management.
• Surgery is the mainstay for treatment.
• Medications to control hormone secretion.
• Chemotherapy and radiation have minimal
role.
Parathyroid tumors
• Indications for surgery
– Symptomatic PHPT.
– Hypercalciuria, hypercalcemia and presence of
gastrinoma.
• Recurrence more common than in sporadic
cases.
• Subtotal parathyroidectomy or total
parathyroidectomy.
• Subtotal prevents permanent
hypoparathyroidism and reduces temporary post
surgical hypocalcaemia.
• Recurrence in subtotal parathyroidectomy -50%
after 8-12 years.
• Often surgery of choice – Total
parathyroidectomy with autologous graft in
brachioradialis .
• Preventive bilateral cervical total thymectomy.
• Rapid intraoperative PTH assays to ensure no
ectopic or supernumerary glands.
• Alternatively total parathyroidectomy
followed by life long treatment with VitD
analogues.
• Calcimimetics – calcium sensing receptor
agonists. – reduce PTH release and
parathyroid hyperplasia.
• Cinacalcet- in patients with recurrence or unfit
for operation.
Gastrinomas
• Non-metastatic gastrinoma – surgery.
• PPI and somatostatin analogue.
• Chemotherapy with 5FU and streptozotocin.
• Surgical resection recommended for non metastatic
tumors.
• Duodenal gastrinomas <5mm – longitudinal
duodenectomy and enucleation from submucosa.
>5mm- full thickness excision from duodenal wall.
• Tumors more than 2cm have high rate of liver
metastasis.
• Whipples procedure.
Insulinomas
• Chemotherapy with streptozotocin or
octreotide for metastatic disease
• Surgical approach by intraoperative
localization by palpation or USG followed by
enucleation.
• Pancreatic resection if multiple large deep
nodules.
Glucogonomas, VIPomas, Ppomas,
somatostatinomas and non functional
GEP tumors
• Surveillance by EUS.
• Pancreatic surgery of size of lesion approaches
2 cm.
• No role in the presence of systemic
metastasis.
• Medical treatment with streptozotocin,
octreotide, corticosteroids , indomethacin ,
metoclopramide, lithium carbonate.
Anterior pituitary tumors.
• Transphenoidal resection, endoscopic
resection or radioablation are TOC for
macroadenomas.
• Dopamine agonists ( cabergoline,
bromocriptine, pergolide, quinagolide) – PRL
secreting microadenomas.
• Somatostatin analogues for GH secreting
microadenomas.
• Non functional adenomas - surgery
Adrenocortical tumors
• No consensus.
• Larger tumors – surgical removal – due to
higher malignant potential.
Carcinoids.
• Surgery - TOC for bronchial and thymic carcinoids.
• Thymic carcinoids have 100 % recurrence after 1
year of surgery.
• Prophylactic thymectomy at time of neck surgery.
• Gastric type 2 NETS- somatostatin analogues,
endoscopic surveillance and gastrectomy once
macrolesions are visible.
• Somatostatin analogues – reduce tumor size and
reduce gastrin secretion in MEN1.

More Related Content

What's hot

multiple endocrine neoplasia type 2
multiple endocrine neoplasia type 2multiple endocrine neoplasia type 2
multiple endocrine neoplasia type 2Balqees Majali
 
Renal cell carcinoma
Renal cell carcinomaRenal cell carcinoma
Renal cell carcinomaArkaprovo Roy
 
Chapter 35 tumor lysis syndrome
Chapter 35 tumor lysis syndromeChapter 35 tumor lysis syndrome
Chapter 35 tumor lysis syndromeNilesh Kucha
 
Hypersplenism ;its surgical management
 Hypersplenism ;its surgical management    Hypersplenism ;its surgical management
Hypersplenism ;its surgical management devrajpatel5
 
Non hodgkins lymphoma
Non hodgkins lymphomaNon hodgkins lymphoma
Non hodgkins lymphomaChandan N
 
Molecular classification breast carcinoma
Molecular classification breast carcinomaMolecular classification breast carcinoma
Molecular classification breast carcinomassuser56f01e1
 
Cutaneous manifestations of internal malignancies.
Cutaneous manifestations of internal malignancies.Cutaneous manifestations of internal malignancies.
Cutaneous manifestations of internal malignancies.prasad panuganti
 
Myelodysplastic syndrome
Myelodysplastic syndromeMyelodysplastic syndrome
Myelodysplastic syndromeajayyadav753
 
Cerebral malaria lec
Cerebral malaria  lecCerebral malaria  lec
Cerebral malaria lecShakeel Ahmed
 

What's hot (20)

multiple endocrine neoplasia type 2
multiple endocrine neoplasia type 2multiple endocrine neoplasia type 2
multiple endocrine neoplasia type 2
 
Germ cell tumors
Germ cell tumorsGerm cell tumors
Germ cell tumors
 
Carcinoid tumors
Carcinoid tumorsCarcinoid tumors
Carcinoid tumors
 
Renal cell carcinoma
Renal cell carcinomaRenal cell carcinoma
Renal cell carcinoma
 
Chapter 35 tumor lysis syndrome
Chapter 35 tumor lysis syndromeChapter 35 tumor lysis syndrome
Chapter 35 tumor lysis syndrome
 
Hypersplenism ;its surgical management
 Hypersplenism ;its surgical management    Hypersplenism ;its surgical management
Hypersplenism ;its surgical management
 
testicular tumors
testicular tumorstesticular tumors
testicular tumors
 
Testicular tumours
Testicular tumoursTesticular tumours
Testicular tumours
 
Chronic myeloid leukemia (CML)
Chronic myeloid leukemia (CML)Chronic myeloid leukemia (CML)
Chronic myeloid leukemia (CML)
 
Thyroid malignancies
Thyroid malignanciesThyroid malignancies
Thyroid malignancies
 
Paraneoplastic syndromes
Paraneoplastic syndromesParaneoplastic syndromes
Paraneoplastic syndromes
 
Non hodgkins lymphoma
Non hodgkins lymphomaNon hodgkins lymphoma
Non hodgkins lymphoma
 
Molecular classification breast carcinoma
Molecular classification breast carcinomaMolecular classification breast carcinoma
Molecular classification breast carcinoma
 
Neuroblastoma
NeuroblastomaNeuroblastoma
Neuroblastoma
 
GI Lymphoma
GI LymphomaGI Lymphoma
GI Lymphoma
 
OPSI Splenectomy by Dr. Aryan
OPSI Splenectomy by Dr. AryanOPSI Splenectomy by Dr. Aryan
OPSI Splenectomy by Dr. Aryan
 
Cutaneous manifestations of internal malignancies.
Cutaneous manifestations of internal malignancies.Cutaneous manifestations of internal malignancies.
Cutaneous manifestations of internal malignancies.
 
Neurofibromatosis abhijeet
Neurofibromatosis abhijeetNeurofibromatosis abhijeet
Neurofibromatosis abhijeet
 
Myelodysplastic syndrome
Myelodysplastic syndromeMyelodysplastic syndrome
Myelodysplastic syndrome
 
Cerebral malaria lec
Cerebral malaria  lecCerebral malaria  lec
Cerebral malaria lec
 

Viewers also liked

Multiple endocrine neoplasia syndromes 1
Multiple endocrine neoplasia syndromes 1Multiple endocrine neoplasia syndromes 1
Multiple endocrine neoplasia syndromes 1Sajad Al-Ramahy
 
Neoplasia Endocrina Multiple
Neoplasia Endocrina MultipleNeoplasia Endocrina Multiple
Neoplasia Endocrina MultipleJose Luis Charles
 
Neoplasias endocrinas multiples
Neoplasias endocrinas multiplesNeoplasias endocrinas multiples
Neoplasias endocrinas multiplesMario Chu Wong
 
Tumors of the endocrine system
Tumors of the endocrine systemTumors of the endocrine system
Tumors of the endocrine systemDr./ Ihab Samy
 
Endokrinopatije 02 izborni
Endokrinopatije 02 izborniEndokrinopatije 02 izborni
Endokrinopatije 02 izborniMate Maričić
 
Un adénome hypophysaire atypique
Un adénome hypophysaire atypiqueUn adénome hypophysaire atypique
Un adénome hypophysaire atypiqueall-in-web
 
Sindrome men 1
Sindrome men 1Sindrome men 1
Sindrome men 1jlpc1962
 
Sindromes de neoplasia endocrina multiple (MEN)
Sindromes de neoplasia endocrina  multiple (MEN)Sindromes de neoplasia endocrina  multiple (MEN)
Sindromes de neoplasia endocrina multiple (MEN)Gina Curiel
 
endocrinopatia neoplasica multiple
endocrinopatia neoplasica  multiple endocrinopatia neoplasica  multiple
endocrinopatia neoplasica multiple janeth
 
Endocrinopatía múltiple
Endocrinopatía múltipleEndocrinopatía múltiple
Endocrinopatía múltipleAvi Afya
 
Mycobacterium tuberculosis
Mycobacterium tuberculosisMycobacterium tuberculosis
Mycobacterium tuberculosisarchana gautam
 
Respiratory system pathology lab
Respiratory system pathology labRespiratory system pathology lab
Respiratory system pathology labMohammad Ihmeidan
 
Early and locally advanced breast cancer
Early and  locally advanced breast cancerEarly and  locally advanced breast cancer
Early and locally advanced breast cancerAbhilash Cheriyan
 
Cognitive Impairment In Children With Type 1 Neurofibromatosis
Cognitive Impairment In Children With Type 1 NeurofibromatosisCognitive Impairment In Children With Type 1 Neurofibromatosis
Cognitive Impairment In Children With Type 1 Neurofibromatosisclkraft
 
Carcinoma stomach sb-rubel
Carcinoma stomach sb-rubelCarcinoma stomach sb-rubel
Carcinoma stomach sb-rubelrubel2003
 

Viewers also liked (20)

Multiple endocrine neoplasia syndromes 1
Multiple endocrine neoplasia syndromes 1Multiple endocrine neoplasia syndromes 1
Multiple endocrine neoplasia syndromes 1
 
Neoplasia Endocrina Multiple
Neoplasia Endocrina MultipleNeoplasia Endocrina Multiple
Neoplasia Endocrina Multiple
 
Neoplasias endocrinas multiples
Neoplasias endocrinas multiplesNeoplasias endocrinas multiples
Neoplasias endocrinas multiples
 
Neoplasia endocrina multiple
Neoplasia endocrina multipleNeoplasia endocrina multiple
Neoplasia endocrina multiple
 
Tumors of the endocrine system
Tumors of the endocrine systemTumors of the endocrine system
Tumors of the endocrine system
 
šOk
šOkšOk
šOk
 
Endokrinopatije 02 izborni
Endokrinopatije 02 izborniEndokrinopatije 02 izborni
Endokrinopatije 02 izborni
 
Un adénome hypophysaire atypique
Un adénome hypophysaire atypiqueUn adénome hypophysaire atypique
Un adénome hypophysaire atypique
 
Sindrome men 1
Sindrome men 1Sindrome men 1
Sindrome men 1
 
Sindromes Tumorales Endocrinos Caso
Sindromes Tumorales Endocrinos CasoSindromes Tumorales Endocrinos Caso
Sindromes Tumorales Endocrinos Caso
 
Sindromes de neoplasia endocrina multiple (MEN)
Sindromes de neoplasia endocrina  multiple (MEN)Sindromes de neoplasia endocrina  multiple (MEN)
Sindromes de neoplasia endocrina multiple (MEN)
 
Tuberculosis (TB)
Tuberculosis (TB)Tuberculosis (TB)
Tuberculosis (TB)
 
endocrinopatia neoplasica multiple
endocrinopatia neoplasica  multiple endocrinopatia neoplasica  multiple
endocrinopatia neoplasica multiple
 
Endocrinopatía múltiple
Endocrinopatía múltipleEndocrinopatía múltiple
Endocrinopatía múltiple
 
Mycobacterium tuberculosis
Mycobacterium tuberculosisMycobacterium tuberculosis
Mycobacterium tuberculosis
 
Respiratory system pathology lab
Respiratory system pathology labRespiratory system pathology lab
Respiratory system pathology lab
 
Early and locally advanced breast cancer
Early and  locally advanced breast cancerEarly and  locally advanced breast cancer
Early and locally advanced breast cancer
 
Cognitive Impairment In Children With Type 1 Neurofibromatosis
Cognitive Impairment In Children With Type 1 NeurofibromatosisCognitive Impairment In Children With Type 1 Neurofibromatosis
Cognitive Impairment In Children With Type 1 Neurofibromatosis
 
Carcinoma stomach sb-rubel
Carcinoma stomach sb-rubelCarcinoma stomach sb-rubel
Carcinoma stomach sb-rubel
 
Adrenal Insufficiency
Adrenal InsufficiencyAdrenal Insufficiency
Adrenal Insufficiency
 

Similar to Multiple endocrine neoplasia type 1

Small bowel neoplasms neo
Small bowel neoplasms neoSmall bowel neoplasms neo
Small bowel neoplasms neoNawin Kumar
 
Endocrine pancreatic tumour
Endocrine pancreatic tumourEndocrine pancreatic tumour
Endocrine pancreatic tumourBashir BnYunus
 
Pancreratic Endocrne Tumors.pptx
Pancreratic Endocrne Tumors.pptxPancreratic Endocrne Tumors.pptx
Pancreratic Endocrne Tumors.pptxAshrafur Romeo
 
Name the endocRine tumors of pancreas
Name the endocRine tumors of pancreasName the endocRine tumors of pancreas
Name the endocRine tumors of pancreasDr. Ravi Bhushan
 
Zollinger ellison syndrome
Zollinger ellison syndromeZollinger ellison syndrome
Zollinger ellison syndromeRazeeb Hassan
 
Neuroendocrine tumors of pancreas
Neuroendocrine tumors of pancreasNeuroendocrine tumors of pancreas
Neuroendocrine tumors of pancreasAnupshrestha27
 
NEUROENDOCRINE TUMORS OF PANCREAS.pptx
NEUROENDOCRINE TUMORS OF PANCREAS.pptxNEUROENDOCRINE TUMORS OF PANCREAS.pptx
NEUROENDOCRINE TUMORS OF PANCREAS.pptxmasoom parwez
 
Neuroendocrine tumors (Gastroduodenal)
Neuroendocrine tumors (Gastroduodenal)Neuroendocrine tumors (Gastroduodenal)
Neuroendocrine tumors (Gastroduodenal)jrajbomman
 
Intestinal carcinoid syndromes
Intestinal carcinoid syndromesIntestinal carcinoid syndromes
Intestinal carcinoid syndromesYouttam Laudari
 
Pancreatic tumors .pptx
Pancreatic tumors .pptxPancreatic tumors .pptx
Pancreatic tumors .pptxtejasampath
 
NEUROENDOCRINE TUMORS OF GIT-1 neuro endo
NEUROENDOCRINE TUMORS OF GIT-1 neuro endoNEUROENDOCRINE TUMORS OF GIT-1 neuro endo
NEUROENDOCRINE TUMORS OF GIT-1 neuro endosurimallasrinivasgan
 
pancreatic solid neoplasms
 pancreatic solid neoplasms pancreatic solid neoplasms
pancreatic solid neoplasmsRagubharathiRavi
 
radiological imaging of pancreatic malignancy - solid neoplasms radiological ...
radiological imaging of pancreatic malignancy - solid neoplasms radiological ...radiological imaging of pancreatic malignancy - solid neoplasms radiological ...
radiological imaging of pancreatic malignancy - solid neoplasms radiological ...RagubharathiRavi
 
Neuroendocrine tumors of pancreas
Neuroendocrine tumors of pancreasNeuroendocrine tumors of pancreas
Neuroendocrine tumors of pancreasvipul1992bhu
 
Pancreatic nodules: Topic for residents
Pancreatic nodules: Topic for residentsPancreatic nodules: Topic for residents
Pancreatic nodules: Topic for residentsHappyFridayKnight
 
Management of Parathyroid.pptx
Management of Parathyroid.pptxManagement of Parathyroid.pptx
Management of Parathyroid.pptxBedrumohammed2
 

Similar to Multiple endocrine neoplasia type 1 (20)

Small bowel neoplasms neo
Small bowel neoplasms neoSmall bowel neoplasms neo
Small bowel neoplasms neo
 
Neuroendocrine tumors
Neuroendocrine tumorsNeuroendocrine tumors
Neuroendocrine tumors
 
Endocrine pancreatic tumour
Endocrine pancreatic tumourEndocrine pancreatic tumour
Endocrine pancreatic tumour
 
Pancreratic Endocrne Tumors.pptx
Pancreratic Endocrne Tumors.pptxPancreratic Endocrne Tumors.pptx
Pancreratic Endocrne Tumors.pptx
 
Name the endocRine tumors of pancreas
Name the endocRine tumors of pancreasName the endocRine tumors of pancreas
Name the endocRine tumors of pancreas
 
Zollinger ellison syndrome
Zollinger ellison syndromeZollinger ellison syndrome
Zollinger ellison syndrome
 
Neuroendocrine tumors of pancreas
Neuroendocrine tumors of pancreasNeuroendocrine tumors of pancreas
Neuroendocrine tumors of pancreas
 
NEUROENDOCRINE TUMORS OF PANCREAS.pptx
NEUROENDOCRINE TUMORS OF PANCREAS.pptxNEUROENDOCRINE TUMORS OF PANCREAS.pptx
NEUROENDOCRINE TUMORS OF PANCREAS.pptx
 
Neuroendocrine tumors (Gastroduodenal)
Neuroendocrine tumors (Gastroduodenal)Neuroendocrine tumors (Gastroduodenal)
Neuroendocrine tumors (Gastroduodenal)
 
Intestinal carcinoid syndromes
Intestinal carcinoid syndromesIntestinal carcinoid syndromes
Intestinal carcinoid syndromes
 
Pancreatic tumors .pptx
Pancreatic tumors .pptxPancreatic tumors .pptx
Pancreatic tumors .pptx
 
ZES
ZESZES
ZES
 
NEUROENDOCRINE TUMORS OF GIT-1 neuro endo
NEUROENDOCRINE TUMORS OF GIT-1 neuro endoNEUROENDOCRINE TUMORS OF GIT-1 neuro endo
NEUROENDOCRINE TUMORS OF GIT-1 neuro endo
 
Endocrine tumors of git
Endocrine tumors of gitEndocrine tumors of git
Endocrine tumors of git
 
pancreatic solid neoplasms
 pancreatic solid neoplasms pancreatic solid neoplasms
pancreatic solid neoplasms
 
radiological imaging of pancreatic malignancy - solid neoplasms radiological ...
radiological imaging of pancreatic malignancy - solid neoplasms radiological ...radiological imaging of pancreatic malignancy - solid neoplasms radiological ...
radiological imaging of pancreatic malignancy - solid neoplasms radiological ...
 
Neuroendocrine tumors of pancreas
Neuroendocrine tumors of pancreasNeuroendocrine tumors of pancreas
Neuroendocrine tumors of pancreas
 
Pancreatic nodules: Topic for residents
Pancreatic nodules: Topic for residentsPancreatic nodules: Topic for residents
Pancreatic nodules: Topic for residents
 
Management of Parathyroid.pptx
Management of Parathyroid.pptxManagement of Parathyroid.pptx
Management of Parathyroid.pptx
 
Ovarian carcinoma
Ovarian carcinomaOvarian carcinoma
Ovarian carcinoma
 

More from Abhilash Cheriyan

More from Abhilash Cheriyan (16)

Fluid
FluidFluid
Fluid
 
Peutz jeghers syndrome
Peutz jeghers syndromePeutz jeghers syndrome
Peutz jeghers syndrome
 
Toxic goitre
Toxic goitreToxic goitre
Toxic goitre
 
Surgery in patients with icd and pacemakers
Surgery in patients with icd and pacemakersSurgery in patients with icd and pacemakers
Surgery in patients with icd and pacemakers
 
Superior mesenteric artery syndrome
Superior mesenteric artery syndromeSuperior mesenteric artery syndrome
Superior mesenteric artery syndrome
 
Penetrating thoracoabdominal trauma
Penetrating thoracoabdominal traumaPenetrating thoracoabdominal trauma
Penetrating thoracoabdominal trauma
 
Mobile cecum syndrome
Mobile cecum syndromeMobile cecum syndrome
Mobile cecum syndrome
 
Management of pancreatic fistulas
Management of pancreatic fistulasManagement of pancreatic fistulas
Management of pancreatic fistulas
 
Malrotation
MalrotationMalrotation
Malrotation
 
Fistula
FistulaFistula
Fistula
 
Energy devices
Energy devicesEnergy devices
Energy devices
 
Diabetes mellitus type 2 in pancreatic cancer
Diabetes mellitus type 2 in pancreatic cancerDiabetes mellitus type 2 in pancreatic cancer
Diabetes mellitus type 2 in pancreatic cancer
 
Chylous fistula of the neck
Chylous fistula of the neckChylous fistula of the neck
Chylous fistula of the neck
 
Acute limb ischemia
Acute limb ischemiaAcute limb ischemia
Acute limb ischemia
 
Accp dvt rx
Accp dvt rxAccp dvt rx
Accp dvt rx
 
Barcelona clinic liver cancer (bclc) staging
Barcelona clinic liver cancer (bclc) stagingBarcelona clinic liver cancer (bclc) staging
Barcelona clinic liver cancer (bclc) staging
 

Recently uploaded

QUESTIONS & ANSWERS FOR QUALITY ASSURANCE, RADIATIONBIOLOGY& RADIATION HAZARD...
QUESTIONS & ANSWERS FOR QUALITY ASSURANCE, RADIATIONBIOLOGY& RADIATION HAZARD...QUESTIONS & ANSWERS FOR QUALITY ASSURANCE, RADIATIONBIOLOGY& RADIATION HAZARD...
QUESTIONS & ANSWERS FOR QUALITY ASSURANCE, RADIATIONBIOLOGY& RADIATION HAZARD...Ganesan Yogananthem
 
Adenomyosis or Fibroid- making right diagnosis
Adenomyosis or Fibroid- making right diagnosisAdenomyosis or Fibroid- making right diagnosis
Adenomyosis or Fibroid- making right diagnosisSujoy Dasgupta
 
Trustworthiness of AI based predictions Aachen 2024
Trustworthiness of AI based predictions Aachen 2024Trustworthiness of AI based predictions Aachen 2024
Trustworthiness of AI based predictions Aachen 2024EwoutSteyerberg1
 
SGK LEUKEMIA KINH DÒNG BẠCH CÂU HẠT HAY.pdf
SGK LEUKEMIA KINH DÒNG BẠCH CÂU HẠT HAY.pdfSGK LEUKEMIA KINH DÒNG BẠCH CÂU HẠT HAY.pdf
SGK LEUKEMIA KINH DÒNG BẠCH CÂU HẠT HAY.pdfHongBiThi1
 
Moving Forward After Uterine Cancer Treatment: Surveillance Strategies, Testi...
Moving Forward After Uterine Cancer Treatment: Surveillance Strategies, Testi...Moving Forward After Uterine Cancer Treatment: Surveillance Strategies, Testi...
Moving Forward After Uterine Cancer Treatment: Surveillance Strategies, Testi...bkling
 
Pharmacokinetic Models by Dr. Ram D. Bawankar.ppt
Pharmacokinetic Models by Dr. Ram D.  Bawankar.pptPharmacokinetic Models by Dr. Ram D.  Bawankar.ppt
Pharmacokinetic Models by Dr. Ram D. Bawankar.pptRamDBawankar1
 
Bulimia nervosa ( Eating Disorders) Mental Health Nursing.
Bulimia nervosa ( Eating Disorders) Mental Health Nursing.Bulimia nervosa ( Eating Disorders) Mental Health Nursing.
Bulimia nervosa ( Eating Disorders) Mental Health Nursing.aarjukhadka22
 
CONNECTIVE TISSUE (ANATOMY AND PHYSIOLOGY).pdf
CONNECTIVE TISSUE (ANATOMY AND PHYSIOLOGY).pdfCONNECTIVE TISSUE (ANATOMY AND PHYSIOLOGY).pdf
CONNECTIVE TISSUE (ANATOMY AND PHYSIOLOGY).pdfDolisha Warbi
 
Basic structure of hair and hair growth cycle.pptx
Basic structure of hair and hair growth cycle.pptxBasic structure of hair and hair growth cycle.pptx
Basic structure of hair and hair growth cycle.pptxkomalt2001
 
Breast cancer -ONCO IN MEDICAL AND SURGICAL NURSING.pptx
Breast cancer -ONCO IN MEDICAL AND SURGICAL NURSING.pptxBreast cancer -ONCO IN MEDICAL AND SURGICAL NURSING.pptx
Breast cancer -ONCO IN MEDICAL AND SURGICAL NURSING.pptxNaveenkumar267201
 
The Importance of Mental Health: Why is Mental Health Important?
The Importance of Mental Health: Why is Mental Health Important?The Importance of Mental Health: Why is Mental Health Important?
The Importance of Mental Health: Why is Mental Health Important?Ryan Addison
 
General_Studies_Presentation_Health_and_Wellbeing
General_Studies_Presentation_Health_and_WellbeingGeneral_Studies_Presentation_Health_and_Wellbeing
General_Studies_Presentation_Health_and_WellbeingAnonymous
 
blood bank management system project report
blood bank management system project reportblood bank management system project report
blood bank management system project reportNARMADAPETROLEUMGAS
 
concept of total quality management (TQM).
concept of total quality management (TQM).concept of total quality management (TQM).
concept of total quality management (TQM).kishan singh tomar
 
Role of Soap based and synthetic or syndets bar
Role of  Soap based and synthetic or syndets barRole of  Soap based and synthetic or syndets bar
Role of Soap based and synthetic or syndets barmohitRahangdale
 
SGK RỐI LOẠN TOAN KIỀM ĐHYHN RẤT HAY VÀ ĐẶC SẮC.pdf
SGK RỐI LOẠN TOAN KIỀM ĐHYHN RẤT HAY VÀ ĐẶC SẮC.pdfSGK RỐI LOẠN TOAN KIỀM ĐHYHN RẤT HAY VÀ ĐẶC SẮC.pdf
SGK RỐI LOẠN TOAN KIỀM ĐHYHN RẤT HAY VÀ ĐẶC SẮC.pdfHongBiThi1
 
High-Performance Thin-Layer Chromatography (HPTLC)
High-Performance Thin-Layer Chromatography (HPTLC)High-Performance Thin-Layer Chromatography (HPTLC)
High-Performance Thin-Layer Chromatography (HPTLC)kishan singh tomar
 
Good Laboratory Practice (GLP) in Pharma-LikeWays.pptx
Good Laboratory Practice (GLP) in Pharma-LikeWays.pptxGood Laboratory Practice (GLP) in Pharma-LikeWays.pptx
Good Laboratory Practice (GLP) in Pharma-LikeWays.pptxLikeways
 
DNA nucleotides Blast in NCBI and Phylogeny using MEGA Xi.pptx
DNA nucleotides Blast in NCBI and Phylogeny using MEGA Xi.pptxDNA nucleotides Blast in NCBI and Phylogeny using MEGA Xi.pptx
DNA nucleotides Blast in NCBI and Phylogeny using MEGA Xi.pptxMAsifAhmad
 
power point presentation of Clinical evaluation of strabismus
power point presentation of Clinical evaluation  of strabismuspower point presentation of Clinical evaluation  of strabismus
power point presentation of Clinical evaluation of strabismusChandrasekar Reddy
 

Recently uploaded (20)

QUESTIONS & ANSWERS FOR QUALITY ASSURANCE, RADIATIONBIOLOGY& RADIATION HAZARD...
QUESTIONS & ANSWERS FOR QUALITY ASSURANCE, RADIATIONBIOLOGY& RADIATION HAZARD...QUESTIONS & ANSWERS FOR QUALITY ASSURANCE, RADIATIONBIOLOGY& RADIATION HAZARD...
QUESTIONS & ANSWERS FOR QUALITY ASSURANCE, RADIATIONBIOLOGY& RADIATION HAZARD...
 
Adenomyosis or Fibroid- making right diagnosis
Adenomyosis or Fibroid- making right diagnosisAdenomyosis or Fibroid- making right diagnosis
Adenomyosis or Fibroid- making right diagnosis
 
Trustworthiness of AI based predictions Aachen 2024
Trustworthiness of AI based predictions Aachen 2024Trustworthiness of AI based predictions Aachen 2024
Trustworthiness of AI based predictions Aachen 2024
 
SGK LEUKEMIA KINH DÒNG BẠCH CÂU HẠT HAY.pdf
SGK LEUKEMIA KINH DÒNG BẠCH CÂU HẠT HAY.pdfSGK LEUKEMIA KINH DÒNG BẠCH CÂU HẠT HAY.pdf
SGK LEUKEMIA KINH DÒNG BẠCH CÂU HẠT HAY.pdf
 
Moving Forward After Uterine Cancer Treatment: Surveillance Strategies, Testi...
Moving Forward After Uterine Cancer Treatment: Surveillance Strategies, Testi...Moving Forward After Uterine Cancer Treatment: Surveillance Strategies, Testi...
Moving Forward After Uterine Cancer Treatment: Surveillance Strategies, Testi...
 
Pharmacokinetic Models by Dr. Ram D. Bawankar.ppt
Pharmacokinetic Models by Dr. Ram D.  Bawankar.pptPharmacokinetic Models by Dr. Ram D.  Bawankar.ppt
Pharmacokinetic Models by Dr. Ram D. Bawankar.ppt
 
Bulimia nervosa ( Eating Disorders) Mental Health Nursing.
Bulimia nervosa ( Eating Disorders) Mental Health Nursing.Bulimia nervosa ( Eating Disorders) Mental Health Nursing.
Bulimia nervosa ( Eating Disorders) Mental Health Nursing.
 
CONNECTIVE TISSUE (ANATOMY AND PHYSIOLOGY).pdf
CONNECTIVE TISSUE (ANATOMY AND PHYSIOLOGY).pdfCONNECTIVE TISSUE (ANATOMY AND PHYSIOLOGY).pdf
CONNECTIVE TISSUE (ANATOMY AND PHYSIOLOGY).pdf
 
Basic structure of hair and hair growth cycle.pptx
Basic structure of hair and hair growth cycle.pptxBasic structure of hair and hair growth cycle.pptx
Basic structure of hair and hair growth cycle.pptx
 
Breast cancer -ONCO IN MEDICAL AND SURGICAL NURSING.pptx
Breast cancer -ONCO IN MEDICAL AND SURGICAL NURSING.pptxBreast cancer -ONCO IN MEDICAL AND SURGICAL NURSING.pptx
Breast cancer -ONCO IN MEDICAL AND SURGICAL NURSING.pptx
 
The Importance of Mental Health: Why is Mental Health Important?
The Importance of Mental Health: Why is Mental Health Important?The Importance of Mental Health: Why is Mental Health Important?
The Importance of Mental Health: Why is Mental Health Important?
 
General_Studies_Presentation_Health_and_Wellbeing
General_Studies_Presentation_Health_and_WellbeingGeneral_Studies_Presentation_Health_and_Wellbeing
General_Studies_Presentation_Health_and_Wellbeing
 
blood bank management system project report
blood bank management system project reportblood bank management system project report
blood bank management system project report
 
concept of total quality management (TQM).
concept of total quality management (TQM).concept of total quality management (TQM).
concept of total quality management (TQM).
 
Role of Soap based and synthetic or syndets bar
Role of  Soap based and synthetic or syndets barRole of  Soap based and synthetic or syndets bar
Role of Soap based and synthetic or syndets bar
 
SGK RỐI LOẠN TOAN KIỀM ĐHYHN RẤT HAY VÀ ĐẶC SẮC.pdf
SGK RỐI LOẠN TOAN KIỀM ĐHYHN RẤT HAY VÀ ĐẶC SẮC.pdfSGK RỐI LOẠN TOAN KIỀM ĐHYHN RẤT HAY VÀ ĐẶC SẮC.pdf
SGK RỐI LOẠN TOAN KIỀM ĐHYHN RẤT HAY VÀ ĐẶC SẮC.pdf
 
High-Performance Thin-Layer Chromatography (HPTLC)
High-Performance Thin-Layer Chromatography (HPTLC)High-Performance Thin-Layer Chromatography (HPTLC)
High-Performance Thin-Layer Chromatography (HPTLC)
 
Good Laboratory Practice (GLP) in Pharma-LikeWays.pptx
Good Laboratory Practice (GLP) in Pharma-LikeWays.pptxGood Laboratory Practice (GLP) in Pharma-LikeWays.pptx
Good Laboratory Practice (GLP) in Pharma-LikeWays.pptx
 
DNA nucleotides Blast in NCBI and Phylogeny using MEGA Xi.pptx
DNA nucleotides Blast in NCBI and Phylogeny using MEGA Xi.pptxDNA nucleotides Blast in NCBI and Phylogeny using MEGA Xi.pptx
DNA nucleotides Blast in NCBI and Phylogeny using MEGA Xi.pptx
 
power point presentation of Clinical evaluation of strabismus
power point presentation of Clinical evaluation  of strabismuspower point presentation of Clinical evaluation  of strabismus
power point presentation of Clinical evaluation of strabismus
 

Multiple endocrine neoplasia type 1

  • 2. Introduction • Rare hereditary cancer syndrome. • “Wermer’s syndrome” • Tumors of 1. Parathyroid gland(95% of cases) 2. Endocrine gastroenteropancreatic tract (30- 80% cases) 3. Anterior pituitary (15-90% cases)
  • 3. • Other neoplasms – Adrenocortical tumors – Thyroid tumors. – Visceral and cutaneous lipomas. – Meningiomoas. – Facial angiofibromas – Collagenomas – Thymic, gastric and bronchial carcinoids.
  • 5. • Usually have a family history of MEN1. • Autosomal dominant. • MEN1 gene mutations -70-95% MEN1 patients. • Leading cause of mortality – entero-pancreatic gastrinomas, thymic and bronchial carcinoids.
  • 6. Epidemiology • Incidence 1 in 30,000. • M:F=1:1 • No racial or ethnic predilection. • Diagnosis before 10 years of age is rare.
  • 7. Historical background. • Erdheim reported 1st case of MEN1 in 1903. • Cushing and Davidoff reported classical MEN1 triad in 1920s. • Underdahl – first review of 14 cases of MEN1 • Wermer in 1954 – MEN1 –Autosomal dominant. • 1988- MEN1 locus mapped to 11q13 • 1997 – MEN1 mutations confirmed to cause MEN1 syndrome.
  • 8. Pathogenesis • Knudsons two hit model for tumor suppressor gene carcinogenesis. • First hit – heterozygous MEN1 germline mutation inherited from parents. • Second hit – MEN1 somatic mutation- deletion
  • 9. Genetics • MEN1 gene mutation in 75-90% cases. • Highly penetrant. • 50% symptomatic by 20 years of age. 95% are symptomatic by 40 years of age. • Environmental modifiers unknown.
  • 10. Parathyroid glands • PHPT – most common in MEN1. • More than 95% by 50 years of age. • First manifestation in 90%. • Multiglandular and earlier in onset than sporadic. • Symptoms of hypercalcemia. • Hypercalcemia may increase gastrin secretion from gastrinoma
  • 12. GEP tract NETs • Second most common manifestation of MEN1 • 30-80% cases. • Multiple nodular lesions. • 2/3rd are functional. • Gastrinomas 54%, Insulinomas 15%. • Non functional and insulinomas are present in pancreas. Gastrinomas in submucosa of duodenum and soft tissue around pancreas.
  • 13. Gastrinomas • 54% of GEP NETs • 90% located in duodenum. • ZES – esophagitis, vomiting, epigastric pain, diarrhea, duodenal ulcers, jejunal ulcers • 40% manifest before age of 40. • Frequently multiple and malignant. • Pancreatic has worse prognosis due to liver metastasis. • Other poor prognostic factors – very high gastrin levels, ectopic cushings and liver metastasis
  • 14. Insulinomas • 10% MEN1 patients • Usually occur in third decade. • Single or multiple macroadenomas. • Benign. • May present with hypoglycemia responsive to glucose.
  • 15. Glucogonomas • Rare. • Usually as single macroadenoma>3cm. • Skin rash(necrolytic migratory erythema), venous thrombosis, anemia, diarrhea, anorexia, weight loss, stomatitis, hyperglycemia, hyperglucogonemia.
  • 17. VIPomas • Rare. • WDHA syndrome. • Watery diarrhea, hypokalemia, achlorhydria. PP omas • Secrete pancreatic polypeptide. • No clinical significance.
  • 18. Anterior pituitary tumors • Occurs in 15-90% of cases. • Usually single. • Invasive in 15-20 %, Malignant change – rare. • Symptoms – hormone, size related. • Bitemporal hemianopia and other visual field defects. • 60%- prolactin, 25% -GH, 3%- ACTH • Mean age of diagnosis is 40 years.
  • 19. Prolactinomas • Most common pituitary tumors in MEN1. • Galactorrhoea, amenorrhea, infertility in women, hypogonadism, sexual dysfunction, impotence. GH secreting tumors • Second most frequent. • Gigantism in children and acromegaly in adults.
  • 20. Other MEN1 associated tumors • Adrenocortical tumors – 20-40% of MEN1. Most are non functional. • Functional tumors can cause hypercortisolism , cushings, hyperaldosteronism. • Pheochromocytoma - <1% cases. Unilateral. • Thyroid tumor – adenoma/colloid/carcinoma. In 25%. Association may not be significant.
  • 21. Carcinoid tumors • Occurs in 10% of MEN1. • GI tract, pancreas, bronchi, thymus. • Thymic carcinoids are aggressive and often lethal.(mainly male smokers) • Bronchial carcinoids are indolent. • Carcinoid syndrome – rare – flushing attacks and dyspnea
  • 22. Collagenomas and facial angiofibromas • Collagenomas >70 % cases – multiple, skin coloured cutaneous nodules. Asymptomatic. • Multiple facial angiofibromas – 40-90% MEN1. • Benign tumors. Acneiform papules.
  • 23. LIPOMAS • 20-30% MEN1 cases CNS • Meningiomas – 8% • Ependymomas – 1%
  • 24. Diagnosis • Biochemical abnormalities with clinical features in age <40 years can be suggestive of MEN1. • Mutational analysis of MEN1 gene
  • 27. Parathyroid tumors. • Serum PTH. • Serum Calcium.
  • 28. GEP NETS • EUS – most sensitive • Endoscopy and EUS for duodenal gastrinomas. • 111In DTPA octreotide scan for pancreatic islet imaging – to assess spread of disease and liver metastasis. • Functional tumors according to the hormone released. • Chromogranin A
  • 29. Gastrinomas • Elevated serum fasting gastrin. • Increased basal gastric acid secretion. • Secretin stimulated gastrin test.
  • 30. Insulinomas • 72 hour fasting protocol. • Fasting hypoglycemia reversed with glucose with high insulin, elevated C peptide levels and proinsulin levels.
  • 31. Prolactinomas • MRI • Fasting prolactin levels 20 fold than upper limit of normal is diagnostic.
  • 32. • Adrenocortical tumors – EUS most sensitive. • Biochemical test – DHEA, normetanephrine, epinephrine, VMA, norepinephrine. • Pheochromocytoma – Biochemical tests – Increased urinary catecholamines and metabolites. • Tumor localization by CT/MRI • Carcinoids – CT or MRI of chest. • Endoscopy for gastric carcinoids • Urine 5HIAA, chromogranin A, calcitonin, corticotropin
  • 34. Management. • Surgery is the mainstay for treatment. • Medications to control hormone secretion. • Chemotherapy and radiation have minimal role.
  • 35. Parathyroid tumors • Indications for surgery – Symptomatic PHPT. – Hypercalciuria, hypercalcemia and presence of gastrinoma. • Recurrence more common than in sporadic cases.
  • 36. • Subtotal parathyroidectomy or total parathyroidectomy. • Subtotal prevents permanent hypoparathyroidism and reduces temporary post surgical hypocalcaemia. • Recurrence in subtotal parathyroidectomy -50% after 8-12 years. • Often surgery of choice – Total parathyroidectomy with autologous graft in brachioradialis . • Preventive bilateral cervical total thymectomy.
  • 37. • Rapid intraoperative PTH assays to ensure no ectopic or supernumerary glands. • Alternatively total parathyroidectomy followed by life long treatment with VitD analogues.
  • 38. • Calcimimetics – calcium sensing receptor agonists. – reduce PTH release and parathyroid hyperplasia. • Cinacalcet- in patients with recurrence or unfit for operation.
  • 39. Gastrinomas • Non-metastatic gastrinoma – surgery. • PPI and somatostatin analogue. • Chemotherapy with 5FU and streptozotocin. • Surgical resection recommended for non metastatic tumors. • Duodenal gastrinomas <5mm – longitudinal duodenectomy and enucleation from submucosa. >5mm- full thickness excision from duodenal wall. • Tumors more than 2cm have high rate of liver metastasis. • Whipples procedure.
  • 40. Insulinomas • Chemotherapy with streptozotocin or octreotide for metastatic disease • Surgical approach by intraoperative localization by palpation or USG followed by enucleation. • Pancreatic resection if multiple large deep nodules.
  • 41. Glucogonomas, VIPomas, Ppomas, somatostatinomas and non functional GEP tumors • Surveillance by EUS. • Pancreatic surgery of size of lesion approaches 2 cm. • No role in the presence of systemic metastasis. • Medical treatment with streptozotocin, octreotide, corticosteroids , indomethacin , metoclopramide, lithium carbonate.
  • 42. Anterior pituitary tumors. • Transphenoidal resection, endoscopic resection or radioablation are TOC for macroadenomas. • Dopamine agonists ( cabergoline, bromocriptine, pergolide, quinagolide) – PRL secreting microadenomas. • Somatostatin analogues for GH secreting microadenomas. • Non functional adenomas - surgery
  • 43. Adrenocortical tumors • No consensus. • Larger tumors – surgical removal – due to higher malignant potential.
  • 44. Carcinoids. • Surgery - TOC for bronchial and thymic carcinoids. • Thymic carcinoids have 100 % recurrence after 1 year of surgery. • Prophylactic thymectomy at time of neck surgery. • Gastric type 2 NETS- somatostatin analogues, endoscopic surveillance and gastrectomy once macrolesions are visible. • Somatostatin analogues – reduce tumor size and reduce gastrin secretion in MEN1.