CHILDHOOD MALIGNANCIES REVISION NOTES

Childhood tumours
TONY SCARIA 2010 KMC

Retinoblastoma

Retinoblastoma
• Most common ocular tumor in children.
• 90% ocular before the age of 5 yr, average age at diagnosis is 18
months.
• Mostly unilateral
• 40 % are hereditary with autosomal dominant inheritance.
• Usual chromosal anomaly is 13q14 (band 14 on longer of
chromosome 13)
• M. C. presentation is leukokoria followed by strabismus.

• Specific histological findings are:
• 1. Flexner Wintersteiner rosette
• 2. Fleurettes.

• Enzyme markers of retinoblastoma
• increase LDH
• increased phosphoglucose isomerase
• Increase neuron specific enolase

• M.C. secondary malignancy in retinoblastoma is osteogenic sarcoma
(Lung and breast cancer)

• Leucocoria (white reflex in pupil) in children
• congenital cataract,
• retinoblastoma,
• retrolental fibroplasia (retinopathy of prematurity),
• persistent primary hyperplastic vitreous and
• toxocara endophthalmitis.
• The yellowish white, semidilated, non-reacting pupil seen in
retinoblastoma and pseudogliomas is also called as amaurotic cat’s
eye reflex TONY SCARIA 2010 KMC

• M.C. presenting pattern of growth is
• endophytic characterize by calcification,
• exophytic pattern causes retinal detachment.
• Spread along optic N  beading of optic nerve  erosion & widening
of optic foramen
• Most widely used staging system is reese – Ellsworth classification.

Trilateral Rb
• Bilateral Rb + pinealoblastoma

Investigation
• IOC for spread  MRI
• IOC for metastasis CT scan
• Extra scleral extension  CT scan

• Sensitive and diagnostic test is CT scan.
• M.C. cause glaucoma in patient with retinoblastoma is
neovascularization.
• TOC for retinoblastoma filling most of globe is enucleation with a
long stump of optic nerve.

• Other modalities of treatment are – cryotherapy, photocoagulation
localized radioactive plagues and systemic chemotherapy.
• 1. Cryotherapy – ant to equator, confined to surgery retina.
• 2. Xenon ARC photocaugulation – posterior pole.
• 3. Systemic chemotherapy– carboplatin vincristine etoposide

Radiotherapy
• Radiosensitisers
• Levamisole with antihelminthic property
• Vitamin D
• SALT in brachytherapy of Rb

Follow up in Rb
• Cured if there is no recurrence for 5 years after initial Rx
• Followed up yearly through out life  to R/O adult Rb
• With indirect opthalmoscope under fully dilated

Neuroblastoma

Neuroblastoma
• Most common malignant tumour of infancy (50% case occur in first
<1 yrs).
• Most common abdominal tumour of child hood
• Most common extracranial tumour of childhood
• At birth patient may be born with metastases to placenta

• 90 % of neuroblastomas produce catecholamines (norepinephrine
)tachycardia headache sweating episodic diarrhea (d/t VIP)flushing
• Vanillyl mandelic acid
• Homovanillic acid

• 98 % sporadic
• 2% familial
• AD inheritance

Sites of Nb
• Adrenal medulla (MC site)
• Pelvic
• Cervical areas
• Posterior mediastinum
• Paravertebral retroperitoneum

• Neuroblastoma is seen in patients with.
• Neurofibromatosis
• Nesidioblastosis
• Hirschsprung’s disease

• 5. Have a high frequency of spontaneous regression.

Holmer wright
pseudorosette
in
neuroblastoma

Metastasis
• In 60 – 70 % cases
• Mc childhood malignancy to metstazises to bone
• Commonest site of metastasis skeletal system
• Other sites of mets
• Liver
• LN
• Skin  blue berry muffin
• Encasement of abdominal aorta & IVC may occurTONY SCARIA 2010 KMC

• widespread subcutaneous nodule blue in colourBlueberry muffin
baby

Blue berry muffin baby

d/t mass d/t metastasis d/t catecholamine
secretion by tumour
Uncommon features
Abdominal mass (mc
presentation )
• Orbital proptosis
• Racoon eyes
• Bone pain
• Lytic lesion in skull
with sutural diastasis
‘
• Tachycardia
• Sweating
• Episodic diarrhoea
• Flushing
• Dancing eye syndrome
(Opsomyoclonus and
nystagmus) Paraplegia
or myasthenia gravis
may also present

Tumour markers in Nb
• NSE

• X-ray abdomen show stippled calcification.
• USG is helpful in diagnosis; CT helps in staging but standard mode of
imaging is MRI.
• MIBG isotope scan is sensitive method to know primary and
secondary.

Stippled calcification

Rx
Surgery 
stage 1 & 2
Surgery +
CRTx  stage
3 & 4TONY SCARIA 2010 KMC

ALL
• Most common childhood tumour is leukemia
• 77 % of childhood leukemia

Genetic conditions Environmental infectins
• Down syndrome
• Fanconi anemia
• Bloom syndrome
• Schwannmann diamons syndrome
• Ionising radiation
• Alkylating agent
• Nitrosurea
• Benzene exposure

Pre B cell Pre T cell
• 85 % of ALL
• Manifest as leukemia with extensive bone marrow
& variable peripheral blood involvement
• Manifest as lymphoma in adolescent male as
lymphoma with thymic involvement
• 3- 5 years • Adolescent males

L1 L2 L3
Most common type Least common type
Childhood ALL Adult ALL Burkitt lymphoma
Good prognosis Bad prognosis Bad prognosis
Small cells Large cell Large cell
Scanty Cytoplasm Variable cytoplasm Moderately abundant
Small & inconspicuous nucleoli One or more often large One or more prominent
Homogenous nuclear chromatin Heterogenous nuclear chromatin Finely stippled homogenous
Regular nuclear shape Irregular clefting & indentation Regular
Variable Variable Basophilic cytoplasm
Variable Variable Prominent cytoplasmic
vacuolation

CF
Depression of normal
marrow function
Compression of large
mediastinal vessels
or airway
CNS manifestation
(d/t meningeal
involvement )
Neoplastic infiltration
of tissues
• Anemia
• Neutropenia
• Thrombocytopenia
• Marrow expansion
& infiltration of
subperiosteum
bone pain
• Pre T ALL d/t
thymus
enlargement
• d/t meningeal
involvement
• Testicular
involvement
• Generalised
lymphadenopathy
• Splenomegaly

Good prognosis Bad prognosis
Race White Black
Sex Female Male
Age 2- 8 years <1 year
> 10 year
Cytogenetics Hyperdiploidy
Trisomies 4, 10, and 17
t(12;21)
Hypodiploidy
• t(1;19)
• t(4;11)
• t(9;22)
• t(8;14)
Total lymphocyte count <20000 • >50,000
• Lymphadenopathy
• HSM
• Meningeal involvement
• Testicular involvement
Negative • Absent
CD10 (CALLA positive)
Early pre B CELL
• CALLA negative
• Pre B cell
• Mature B cell T cell
• ALL
• Time of remission <14 days • >28 days

Induction of remission 4-6 weeks • Vincristine
• Prednisolone
• L asparaginase
• Anthracycline
CNS therapy To tackle subclinical CNS
involvement
• Cranial irradiation
• Intrathecal methotrexate
Intensification If patient goes into remission
intensification for short period
• Methotrexate
• L asparaginase
• Epipodophyllotoxin
• Cyclophosphamide
• cytarabine
Maintenance therapy To maintain remission • 6 mercaptopurine
• Methotrexate
• Prednisolone
• vincristine

• Common site for relapse
• Bone marrow  MC
• CNS
• Testis

Juvenile myelomonocytic
leukemia

Juvenile myelomoncytic leukemia
• Children below 2 years of age
• Philadelphia chromosome negative (unlike adult CML)
• HbF is raised
• CF
• Thrombocytopenia 
• Anemia
• Leucocytosis
• Absolute monocytosis

Rhabdomyosarcoma

Rhabdomyosarcoma
• MC soft tissue sarcoma in children is
rhabdomyosarcoma
• Site
• Head & neck area  (25 %)MC site
• Orbit  mc
• Genitourinary  22 %

Genitourinary rhabdomyosarcoma
the embryonal variant when arising near the
mucosal surfaces of the bladder or vagina, can
manifest as soft, gelatinous, grapelike masses,
designated sarcoma botryoides.

Embryonal type Alveolar type Pleomorphic type
• Common in younger
children
• More common in older
children & old agers
• Rare
• 60 % (most common) • 15 % • 1 %
• Botryoid variant of this
tumour arises in
mucosal cavities
(bladder vagina
nasopharynx middle
ear )
• Extremities are most
common sites
Sarcoma
with
lymphatic
metastasis

Rhabdomyoblast
• the diagnostic cell in
rhabdomyosarcoma
• granular eosinophilic cytoplasm
rich in thick and thin flaments
cross striations
• rhabdomyoblasts may be round
or elongated; the latter are
known as tadpole or strap
cells

IHC of rhabdomyosarcoma
• myogenin best & specific marker
• MYOD-1,
• muscle-associated intermediate flament desmin

Botryoid variant of rhabdomyosarcoma
Linear aggregates of tumour cells
that lightly abut an epithelial
surface  CAMBiUM LAYER

Langerhans cell histiocytosis

Langerhans cell histiocytosis
• Reactive proliferation of immature dendritic cells (Langerhans cells)

Histiocytosis X
Letterer siwe syndrome Pulmonary LCH Eosinophilic granuloma
• Multisystem Langerhans cell
histiocytosis
• In adult smokers
• Spontaneously regress with
smoking cessation
Unisystem Langerhans cell
histiocytosis (eosinophilic
granuloma)
• Children <2 years
• CF
 multifocal cutaneous lesions
that grossly resemble seborrheic
skin eruptions and are
composed of Langerhans cells
 hepatosplenomegaly,
 lymphadenopathy,
 pulmonary lesions,
 destructive osteolytic bone
lesions((later in the course)
Neoplastic origin d/t BRAF
mutation
expanding, erosive accumulations
of Langerhans cells,
usually within the medullary
cavities of bones  calvarial skull
defects (mc presentation)
or less
commonly in the skin, lungs, or
stomach

LHC present as rash

• The proliferating Langerhans cells express MHC class II antigens,
CD1a, and langerin

Birbeck granules

• Tumour cells express
• HLA DR
• S 100
• CD1a

Birbeck granules
• Cytoplasmic pentalaminar rodlike tubular structures that in electron
micrographs have a characteristic periodicity and sometimes a dilated
terminal end (“tennis racket” appearance)
• Contain langerin

Hand schuller Christian syndrome is a triad of
Calvarial bone
defect
exophthalmos
Diabetes
insipidus

CHILDHOOD MALIGNANCIES REVISION NOTES

Recommended

Recommended

More Related Content

What's hot

What's hot (20)

Similar to CHILDHOOD MALIGNANCIES REVISION NOTES

Similar to CHILDHOOD MALIGNANCIES REVISION NOTES (20)

More from TONY SCARIA

More from TONY SCARIA (20)

Recently uploaded

Recently uploaded (20)

CHILDHOOD MALIGNANCIES REVISION NOTES