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Cancer of head & neck - basics

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Head And Neck Cancer
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Cancer of head & neck - basics

  1. 1. • • • • • • • • • Introduction Definition Nomenclature Classification Epidemiology Etiology Molecular biology Tumor metastasis Clinical features
  2. 2. • Cancer is the common term for all malignant tumors. • Cancer (Latin word) : crab (Ancient Greek word) • Presumably because, a cancer cell adheres to any part that it seize upon in an obstinate manner like a crab. • The study of cancer is – “Oncology’’ onco = Greek onkos, meaning bulk, mass, or tumor, logy = study
  3. 3. • Common terminologies : cancer or tumor • Literature terminology : neoplasia or neoplasm • It is a disorder of cell growth, characterized by uncontrolled, uncoordinated & undesirable cell division. • There is no exact definition for cancer.
  4. 4. • British oncologist – Dr. Willis tried to define it as – “A neoplasm is an abnormal mass of tissues, the growth of which exceeds & is uncoordinated with that of the normal tissues and persists in the same excessive manner after cessation of Kumar V. , Abbas A.K. , Fausto N. 2007. Robbins & Corton Pathologic Basis Of Disease.7 ed. Saunders. ISBN 10: 0721601871 stimuli, which evoked the th
  5. 5. Condition Tissue involved Suffix Benign Mesenchymal tissue Oma Benign Epithelial tissue Malignant Mesenchymal tissue Sarcoma Malignant Epithelial tissue Carcinoma • adenoma • Papilloma • Cystadenoma • Papillary cystadenoma • polyp
  6. 6. • More than 90% of head and neck malignancies are squamous cell carcinomas. L. Licitra, E. Felip. Squamous cell carcinoma of the head and neck: ESMO Clinical Recommendations for diagnosis, treatment and follow-up. Ann Oncol . 2009; 20 (4):iv121-iv122. doi: 10.1093/annonc/mdp149. • According to Stell & Maran’s Textbook Of Head & Neck Surgery & Oncology CANCERS OF HEAD & NECK Squamous cell carcinoma Non - Squamous cell carcinoma 1. Cancer of oral cavity & 1. Cancer of thyroid oropharynx 2. Cancer of salivary glands 2. Cancer of larynx & hypophaynx 3. Sarcomas 3. Cancer of nasopharynx - soft tissue 4. Cancer of nasal cavity & paranasal - hard tissue sinuses
  7. 7. • Cancer is a leading cause of death worldwide, accounting for 7.6 million deaths (around 13% of all deaths) in 2008 •     Head and Neck Cancer: Worldwide – 640,000 cases /year 356,000 deaths per annum (55% mortality) 5% incidence of all cancers (excl. skin) 5% mortality of all cancers GLOBOCAN 2008 (IARC) Section of Cancer Information (8/12/2013).
  8. 8. - wide variations  France (supraglottic, oral cancers)  Hong Kong (nasopharyngeal cancers)  India (oral cancers)
  9. 9. Region of Contribution cancer Oral cavity 41- 43% Oropharynx 3rd most common Larynx 30 % Hypophaynx 10% Nasopharynx 1-2% Nasal cavity Rare Paranasal sinuses Rare (60-70% in maxillary sinus)
  10. 10. 1. Tobacco 2. Alcohol 3. Dental factors 4. Occupational exposures 5. Infections 6. Nutritional factors 7. Inflammatory cause 8. Genetic factors 9. Immunologic factors 10. Endocrinal disturbances 11. Radiation
  11. 11. The areas of oral cavity which is bathed with saliva, are most common sites to be involved. Eg. – oropharynx, crypts of tonsil, glossotonsillar sulcus, tongue, soft palate & posterior pharyngeal wall. Smoking : • 90% cases • Contains 30 known carcinogens : polycyclic aromatic hydrocarbons : nitrosamines • Alcohol adds up in pathology Black / dark Air cured More carcinogenic Blend & blond Flute cured
  12. 12. Smokeless : • Most common in Indian suncontinent Bidi khaini Chutta paan
  13. 13. • Synergistic action with tobacco. • Mostly associated with cancer of - lateral border of tongue - glossotonsillar sulci - pharyngoepiglotic fold 7 possible mechanisms – 1. Acts as an solvent 2. Some contents of alcoholic beverages 3. Metabolites like – acetaldehyde 4. Up regulation of enzyme – cyt p450 5. Decreased activity of DNA repair enzymes 6. Impairment of immunity 7. Decrease resistance to cancer
  14. 14. • Different alcoholic beverages have different carcinogenic contentes : - Beer – Nitrosomethylamine - Wine – tannin - Dark liquor – ester, acetaldehyde - Light liquor – ester, acetaldehyde
  15. 15. • Sharp tooth • Oral hygiene • Patients with ill fitting dentures • Alcohol containing mouth washes (to mask the smell of tobacco/alcohol)
  16. 16. Cancer Associated factors Cancer of oral cavity & oropharynx Wood dust, chemicals, coals Cancer of larynx & hypophaynx Wood dust, Ni & mustard gas and asbestos exposure, H2so4 & HCl exposure in battery plants paranasal sinuses Wood dust, textile & lather dust, flour, formaldehyde, solvents, Ni & Cr dust, mustard gas, radium, isopropyl alcohol. Cancer of salivary glands Ni alloy dust & si Sarcomas Urethane, ethylene derivatives, polycyclic hydrocarbons Cancer of nasopharynx Cancer of nasal cavity &
  17. 17. 30-100% verrucous carcinoma 50% cases of NPC have HPV 5% cases of H&E cancers have HIV inhections (kaposi sarcoma) Mostly associated with nasopharyngeal cacinoma 42 % oral cancer & all smokers with & without cancer,have higher HSV antibody titre.
  18. 18. Anti-oxydants Vit A , C, E
  19. 19. Diet low in iodine : carcinoma of thyroid gland Carcinogenic nitrosamine in high salted fish (NPC)
  20. 20. 1. GERD : Risk factor in 36-54 % cases of laryngeal / pharyngeal cancer. 2. PRECANCEROUS CONDITIONS OR LESIONS : leukoplakia, erythroplakia OSMF – in anterior palatoglossal arch
  21. 21. • Li- Fraumeni syndrome : autosomal dominant condition mutation of p53 gene • • • • Fanconi’s anemia Bloom syndrome Ataxia Telegiactasis Autosomal recessive disorder with increased chromosomal fragility are associated with oral cavity & pharyngeal carcinoma. • 4-6% of cancer of larynx & hypophaynx have history of - plummer vinson syndrome or - Patterson Brown – Kelly syndrome
  22. 22. • Cancer of nasopharynx has strong predilection for interaction between genetic & environmental factors. • • • • Gardener syndrome Increased incidence of thyroid cancer. 25 % cases associated with hereditary form Multiple polyposis Cowden disease Multiple endocrine neoplasia (autosomal dominant) • • • • Li- Fraumeni syndrome Children with ratinoblastoma Gardener syndrome Nevoid basal cell carcinoma syndrome osteosarcoma sarcoma
  23. 23. • Patient suffering from HIV infection. • Patient on long term immunosupressive medication for organ transplantations (risk of cancer of skin & oral cavity). • Compromised general condition
  24. 24. • Early menarchy • Nulliparity Increased risk for salivary gland carcinomas • Older age at full term pregnancy • Log term Oral contraceptive Decreased risk for salivary gland carcinomas
  25. 25. • NPC : Previous history of radiation therapy for cricoid carcinoma or carcinoma of posterior wall of pharynx. • Thyroid & salivary gland cancer : history of radiation therapy, exposure to radiation fallot from nuclear power plant or nuclear weapon in childhood .
  26. 26. • 4 stages of tumor growth 1. 2. 3. 4. Malignant changes in 1 cell (transformation) Growth of transformed cell Local invasion Distant metastasis
  27. 27. Alteration in 4 normal regulatory genes I. II. III. IV. Growth promoting oncogenes Growth inhibiting tumor suppressor genes Genes that regulate apoptosis Genes involved in DNA repair
  28. 28. • A proto-oncogene is a normal gene that can become an oncogene due to mutations or increased expression. • Proto-oncogenes code for proteins that help to regulate cell growth and differentiation. • An oncogene is a gene that has the potential to cause cancer. In tumor cells, they are often mutated or expressed at high levels
  29. 29. • A tumor suppressor gene, or anti-oncogene, is a gene that protects a cell from the path to cancer. • Tumor-suppressor genes, or more precisely, the proteins for which they code, either have a dampening or repressive effect on the regulation of the cell cycle or promote apoptosis, and sometimes do both.
  30. 30. • The tumor-suppressor protein p53 accumulates when DNA is damaged due to a chain of biochemical factors. • Part of this pathway includes alpha-interferon and betainterferon, which induce transcription of the p53 gene - p53 protein level and enhancement of cancer cell-apoptosis. • P53 - stopping the cell cycle at G1/interphase, to give the cell time to repair, however it will induce apoptosis if damage is extensive and repair efforts fail. • Any disruption to the regulation of the p53 or interferon genes will result in impaired apoptosis and the possible formation of tumors.
  31. 31. • Self sufficiency in growth signals • Insensitivity to growth inhibiting signals • Evasion of apoptosis • Defects in DNA repair • Limitless replicative potential • Sustained angiogenesis • Ability to invade & metastasize
  32. 32. Acquired / environmental • DNA damaging agents • chemicals • radiations • virus Normal cells Successful DNA repair DNA damage Failure of DNA repair Inherited mutations in • gene affecting DNA repairning • cell growth & apoptosis Mutation in the genome of somatic cells Activation of growth promoting oncogenes Unregulated cell proliferation Inactivation of tumor supressor genes Clonal expansion Angiogenesis & Escape from immunity Additional mutations Tumor progression Malignant neoplasm Alteration in genes regulating the apoptosis Decreased apoptosis
  33. 33. • Pathway of metastasis 1. Haematogenous spread 2. Lymphatic spread 3. Other routes - Trancelomic spread - Spread through the epithelial surface - Spread through CSF - Implantation
  34. 34. • Unfortunately patients are most often identified only after development of symptoms at advanced stages of disease. • Discomfort is the most common symptom that leads a patient to seek care & may be present at the time of diagnosis in up to 85 % of cases. • As the high risk sites of oral carcinoma are lower lip, anterior floor of mouth & the lateral border of tongue, the examination of oral cavity should not be neglected. • Careful assessment of cervical & submandibular lymph nodes should be done & followed by examination of oral cavity.
  35. 35. Common signs and symptoms of head and neck cancers include: • • • • • • • • • • • A chronic sore throat Hoarseness of voice Difficulty in swallowing Earache Headaches Unusual bleeding in the mouth A discolouration on the gums, tongue, or lining of the mouth Nasal obstruction Numbness of the face Trouble when breathing or speaking Undefined weight loss
  36. 36. 1. Red , white or red & white lesions (flat / elevated) 2. Change in surface texture (smooth, granular, rough, crusted) 3. Chronic ulcer , not responding to conservative management 4. Ulcer with irregular edge & induration of underlying soft tissues. 5. Varying degree of pain 6. Occasional episodes of bleeding 7. Exophytic growth may present as a cauliflower like irregular growth / flat 8. Submucosal growth with surrounding indurations (pain in advanced stages ) 9. Bleeding & fixity to surrounding structures
  37. 37. 10. Buccal mucosa cancers involving the infratemporal fossa may lead to trismus (D/D OSMF) 11. Hypoglossal palsy & restriction of tongue mobility, progressive difficulty in mastication & speech, pooling of saliva, friability & surface bleeding. 12. Trismus affects the nutritional status, functional impairment (obstruction from large mass) – decrease tolerance to CT, RT & surgery. 13. Unexplained loosening of the involved tooth/teeth. 14. Tumor closer to midline & posterior in position in oral cavity/ orophaynx may involve bilateral lymph nodes.
  38. 38. 15. Involved lymph nodes are – Initially – soft, mobile, non-tender, enlarged firm to hard in texture, usually non tender, tender (due to inflammatory response ) Advanced stage (aggressive disease) – fixation of nodes to adjacent tissue due to invasion of cells through the capsule 16. Fixation of primary tumor to adjacent tissue overlying bone suggests involvement of periosteum & possible spread to bone.
  39. 39. • Clinical Examination: – Tumours, when first seen, are almost always confined to the head and neck with no distant metastasis – Head and neck tumours are rarely irremovable, all structures can be removed with the tumour in continuity and repaired later • The majority of cases are potentially treatable
  40. 40. • Whether to treat or not depend on: – – – – the age the health status of the patient advance stage local disease • Full assessment will lead to one of the following conclusions: – Patient is potentially curable – Primary tumour is curable but patient develop another illness – Patient is incurable but should be treated – Patient is incurable and should not be treated
  41. 41. • History: – Age: • Patient are generally over 45 years. • Tumours affecting younger age group are usually sinister, defective immunological make-up • Most tumours are of epithelial origin and they require years of abuse by smoking and tobacco • Tumours in younger patients, who do not smoke, is usually very sinister • Tumours developing in an immuno-compromised patients do not respond to any treatment modality
  42. 42. • Complaint: – Vary widely and is often unreliable – Painless lump which persisted for a varying period of time – Persistent ulceration – Difficulty of wearing denture – Later Symptoms: • Pain locally or referred to the jaw or ear • Difficulty with chewing food and swallowing • Altered speech and respiratory difficulty – Asymptomatic and noticed during routine dental examination
  43. 43. • Examination: – Think in term of T Staging, delineate its border by inspection and palpation – Record and draw the lesion from different angles using normal anatomical landmarks – The status of teeth should be assessed as causative and if radiotherapy is to considered
  44. 44. CARCINOMA OF LIP • Age and sex: – The sixth decade and Male : female ratio is 80:1 • 93% affect the lower lip with squamous cell carcinoma, exophytic type • 5% in the upper lip and commonly basal cell carcinoma, commoner in females – – – – Solar exposure, more radiation on the lower lip Commoner in fair complexion Smoker - cigarette, cigar, pipe stem In the upper lip, SCC metastasizes earlier than lower lip
  45. 45. – Covered with non-keratinized stratified squamous epithelium which is transparent, appear red, and contain no hair, sebaceous gland or pigments – Crusted oozing, non-tender, indurated ulceration of <1 cm – On the vermilion border it closely cover the orbicularis oris muscle but on the lingual side mucous gland is present within the muscle and mucosa – Perineural invasion through mental nerve
  46. 46. – Lymphatic drainage: • Mucosal and cutaneous systems. • Lower lip: – One medial trunk which drain the inner third of the lip into the submental group – Two lateral trunk which drain the outer two-third into the submandibular lymph nodes – Anastomosis account for bilateral metastases • Upper lip: – Drain into the periauricular, parotid, submandibular and submental lymph nodes
  47. 47. CARCINOMA OF LABIAL MUCOSA • Lower labial mucosa > upper • Tobacco pouching • Exophytic growth , swelling, ulceration • Unilateral or bilateral lymph nodes may be involved
  48. 48. CARCINOMA OF BUCCAL MUCOSA Site : along or inferior to a line opposite to occlusion line (distal to third molars) Sign : painful lesion Appearance Metastasis : The submandibular lymph nodes to the lower deep cervical chain
  49. 49. CARCINOMA OF TONGUE • A disease of the middle age and elderly with equal sex incidence, youngers • 85% occurs in the lateral border of the anterior 2/3 while tip, dorsum and ventral surface are rarely involved • Appearance : painless indurated mass or ulcer • The lesion may be infiltrative (small on the outside but palpation shows deep invasion) or exophytic and usually of the well-differentiated type
  50. 50. – Specialized keratinized epithelium with collection of minor salivary gland and muscle fibres – The interlacing muscle fibres form an easy pathway for cancer spread and the constant movement of the tongue disseminates the disease widely • Excision should be wide with 2 cm safe margin
  51. 51. • Lymph drainage: – Tip of the tongue: • To the submental lymph nodes – to the lower deep cervical chains – The anterior 2/3: • the lower deep cervical chains – juguloomohyoid nodes – The posterior 1/3: • drain to the upper deep cervical chains  The tip and middle part of the tongue have rich bilateral capillary network but less in the lateral margins
  52. 52. CARCINOMA OF FLOOR OF THE MOUTH – Anterior medial part: • Commoner than the lateral part • Felame > male • Spread medially into the ventral surface of the tongue and laterally • Deep spread to the base of the tongue and the hyoglossus and genioglossus muscles • Shows bilateral lymphatic spread to the submandibular and the submental nodes
  53. 53. – Lateral part: • Spread medially to the side of the tongue • May involve sublingual &/or submandibular glands • Lateral spread to the alveolar ridge where presence or absence of the teeth govern the outcome: – Teeth act as a barrier against buccal spread – In edentulous patient, the alveolar process has resorbed and cortex is incomplete, tumour reaches the cancellous spaces and the canal and spread through the nerve.
  54. 54. Deeper spread, mylohyoid muscle act as a barrier anteriorly, posteriorly the floor is close to the skin, appear as a palpable lump in the submandibular area. Lymphatic drainage – through submandibular lymph nodes to the upper deep cervical chains Sign & symptoms : • Painful / painless lesion • Restricted tongue movement • Slurring of speech • Excessive salivation • loosening / exfoliation of teeth • Root resorption
  55. 55. CARCINOMA OF GINGIVA & ALVEOLOUS  Least associated with tobacco chewing  The lesion is usually painless  Looks like inflammatory or reactive lesion (eg. Pyogenic granuloma)  Warts around the denture flanges – Carcinoma of the lower alveolus affects the antero-lateral part and spread to the floor of the mouth – Tongue and floor of the mouth tumours reach the lower alveolus by marginal spread in the mucosa and submucosa overlying the sublingual, submandibular glands and the mylohyoid muscle. They act as barrier against deep infiltration.
  56. 56. • Edentulous jaws, mylohyoid line is on the occlusal ridge and the loss of the cortical bone barrier will allow tumour to spread downward into the medullary cavity – The inferior alveolar nerve provide a pathway for perineural spread in a predominately proximal direction with little involvement of the bone • Nerve looks clinical normal till late • Spread is not continuous, multiple pathological samples is required – Lymphatic spread to the submandibular lymph nodes
  57. 57. CARCINOMA OF PALATE • Disease of the elderly (60 – 70 years) • Associated with reverse smoking • Common location for carcinoma of the minor salivary gland • Presented as smooth, rounded, bulging masses • Squamous cell carcinomas present as ulcerative or exophytic lesion • Invade the bone at an early stage • Involve the tonsillar pillars, soft palate, nasal cavity, nasopharynx and the antrum • Metastases to submandibular and upper deep cervical chains
  58. 58. • • • • Site : soft palate & oropharyngeal mucosa Appearance : like other lesions Size : greater than that of other sites Symptoms : dysphagia (most common) : pain (dull, sharp, radiating to ear)
  59. 59. • Derived from lining epithelium of lymphoid tissue. • Older age & male predilection • Initial lesion is small & difficult to detect. SYMPTOMS : • Serious otitis media • Otalgia SIGN : • First sign is firm to hard (enlarged) cervical lymph nodes • Neurological symptoms • Obstruction of eustachian tube • Hearing loss • Nasal obstruction • Pharyngeal pain
  60. 60. • The sinus is related to the orbit, nose, alveolar process, infratemporal fossa and nasopharynx. • It has an outlet to the nose, ethmoid sinuses and the root of the teeth • Old age & male predilection SYMPTOMS : • Pain • swelling • Nasal obstruction • Unilateral nasal stiffness • Pain / paresthesia of midface (involvement of maxillary nerve) SIGN : • Ulceration or mass on the hard palate
  61. 61. • The inferior orbital fissure provide a route for entry of tumours into the orbit, the periostium offer an excellent resistant barrier to spread into the orbit. • The roots of the upper premolars and molars and the alveolus are in intimate contact to the floor. • The infratemporal fossa is the space behind the maxillary antrum and it connects to the para-pharyngyeal space, and the sphenoid bone superiorly with foramen spinosium and ovale with their emerging nerves. Lymphatic drainage: • Drain posteriorly to the retropharyngeal nodes • Directly to the jugulo-digastric nodes • If it cross to the nose or the cheek it will drain to submandibular lymph nodes
  62. 62. Precancerous lesion (precancer/ premalignancy) A benign, morphologically altered tissue that has a greater than normal risk of malignant transformation . Eg : leukoplakia erythroplakia mucosal changes associated with smoking habits carcinoma insitu Bowen disease Actinic keratosis, cheilitis & elastosis
  63. 63. Malignant potential : 0.3 – 10 % Mild / thin leukoplakia Nodular/ speckled leukoplakia Homogenous / thick leukoplakia Erythroleukoplakia Verrucous leukoplakia Ulcerated leukoplakia
  64. 64. Homogenous & smooth Erythroplakia Granular Erythroplakia Erythroleokoplakia
  65. 65. Stomatitis nicotina Snuff dipper's lesion Cigarette smoker’s lip lesion
  66. 66. -Mostly involve skin - but sometime also may involve mucosa - SCC in situ is termed as – Bowen Disease
  67. 67. • A cutaneous premalignant lesion • Gives – SAND PAPER APPEARANCE • KERATIN HORN may present
  68. 68. Precancerous condition It is a disease or patient’s habit that doesn’t necessarily alter the clinical appearance of the local tissue but it is associated with a greater than normal risk of precancerous lesion / cancer development in the tissue. Eg : OSMF syphilis sideropenic dysphagia OLP Diskeratosis congenita Lupus Erythmatosis
  69. 69. Malignant potential : 0.2 – 0.5 % in INDIA
  70. 70. Malignant potential : 0.4 – 12.3 % Wickham’s striae are diagnostic
  71. 71. It presents a chronic multiple oral mucosal ulcers, which occurs when there is extreme degeneration of basal cell layer of epithelium. Malignant potential : 1 – 15 %
  72. 72. Staging is the process subdivision of cases of cancer into same groups in which behavior will be similar.
  73. 73. • Over the last decade the 2 principle staging classification system of head & neck cancer, those of AJCC & UICC have undergone a convergent evolution & are now to all interest & purposes identical. • Classification by anatomical extent of disease is determined clinically & histopathologicalyl is the one that the TNM system primarily uses: T : enlargement of & invasion by primary tumor N : spread to regional lymph nodes M : spread to different metastatic sites
  74. 74. 4 classifications – 1. 2. Clinical classification / pretreatment Clinical classification (cTNM) Pathological classification / postsurgical H/P classification (pTNM) Gx : Grade Of Differentiation Can Not Be Assessed G1 : Well Differentiated G2 : Moderately Differentiated G3 : Poorly Differentiated G4 : Undifferentiated 3. Retreatment classification (rTNM) Rx : Grade Of Differentiation Can Not Be Assessed R0 : No residual tumor is present R1 : microscopic residual tumor R2 : macroscopic residual tumor 4. Autopsy classification (aTNM) Other descriptors i. “m” suffix (> 1 primary at single site) ii. “y” prefix : ycTNM, ypTNM
  75. 75. T. Primary Tumor TX. Primary tumor cannot be assessed T0. No evidence of primary tumor Tis. Carcinoma in situ T1, T2, T3, T4. Increasing size and/or local extent of the primary tumor N. Regional Lymph Nodes NX. Regional lymph nodes cannot be assessed N0. No regional lymph node metastasis N1, N2, N3. Increasing involvement of regional lymph nodes Mx : Metastasis cannot be assessed M0 : No evidence of metastasis M1 : Presence of metastasis
  76. 76. Classification schemes that histologically categorize precursor and related lesions Definition WHO 2005 Squamous intraepithelial neoplasia (SIN) Ljubljana classification system An increase in the number of cells, but with no cellular atypia Changes are confined to the lower third of epithelium Mild dysplasia SIN 1 Basal/parabasal cell hyperplasia Changes extend to the middle third of the epithelium. Cytological changes can be more marked Moderate dysplasia SIN 2 Atypical hyperplasia Changes involve at least 2/3rd of the epithelium & atypia is more marked. Severe Dysplasia SIN 3 Atypical hyperplasia Changes involve the full thickness of epithelium, but no invasion of basement membrane 1. Squamous cell hyperplasia Carcinoma in situ SIN 4 Carcinoma in situ Squamous cell (simple) hyperplasia Barnes L, Eveson JW, Reichart PA, Sidransky D. World Health Organization classification of tumours. Pathology and genetics. Head and neck tumours. World Health Organization; 2005. 2. Isaäc van der Waal. Potentially malignant disorders of the oral and oropharyngeal mucosa; terminology, classification and present concepts of management. 2009; 45(4-5):317–323

Editor's Notes

  • Li- Fraumeni syndrome : Li–Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. Named after Frederick Pei Li andJoseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome,[1] Li–Fraumeni syndrome greatly increases susceptibility to cancer. This syndrome is also known as the Sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome.Fanconi’s anemiaFA is the result of a genetic defect in a cluster of proteins responsible for DNA repair. As a result, the majority of FA patients develop cancer, most often acute myelogenous leukemia, and 90% develop bone marrow failure (the inability to produce blood cells) by age 40. About 60–75% of FA patients have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of FA patients have some form of endocrine problem, with varying degrees of severity. Bloom syndrome (in the literature, often abbreviated BS),[1] also known as Bloom–Torre–Machacek syndrome,[2] is a rare autosomal recessive[3][4] disorder characterized by short stature and predisposition to the development of cancer. Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive homologous recombination. The condition was discovered and first described by New York dermatologist Dr. David Bloom in 1954.[Plummer–Vinson syndrome (PVS), also called Paterson–Brown–Kelly syndrome or sideropenicdysphagia, presents as a triad of atrophic glossitis, esophageal webs, and iron deficiency anemia.[1] It most usually occurs in postmenopausalwomen.
  • Gardner syndrome, also known as familial colorectal polyposis,[1] is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon.[2] The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts,[3] as well as the occurrence of desmoid tumors in approximately 15% of affected individualsCowden syndrome (also known as &quot;Cowden&apos;s disease,&quot; and &quot;Multiple hamartoma syndrome&quot;[1]) is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer.[2]Cowden syndrome is associated with loss-of-function mutations in PTEN, a tumor suppressor gene, leading to hyperactivity of the mTOR pathway. These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, benign skin tumors (multiple trichilemmomas, papillomatous papules, and acralkeratoses) and dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). In addition, there is a presdisposition to breast carcinoma, follicular carcinoma of the thyroid, and endometrial carcinoma.[3]Nevoid basal cell carcinoma syndrome (NBCCS), also known as basal cell nevus syndrome, multiple basal cell carcinoma syndrome, Gorlin syndrome, and Gorlin–Goltz syndrome, is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones.[1] People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancers.About 10% of people with the condition do not develop basal cell carcinomas (BCCs). The name Gorlin syndrome refers to researcher Robert J. Gorlin (1923–2006)