Syndromes You Should Know
Table of Contents
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Syndrome associated with Esophageal Ca
Plummer-Vinson Syndrome
- Patterson Kelly Syndrome = Sideropenia(iron defeciency) syn.
- Incraese chance of Ca in:
- Esophagus
- Oral Cavity
- Hypopharynx
Syndromes associated with Colorectal Ca
Familial Adenomatose Polyposis (FAP)
- = Gardner Syndrome
- Individuals with FAPdevelop hundred to thousands of benign colonic polyps during their early adulthood
- If not removed by surgery —> develop into adenocarcinomas
- Autosomal Dominant
- 100% Pentrance
- Gene on chromosome 5
- Also get desmoid tumours
Hereditary non-polyposis colorectal cancer (HNPCC)
- Lynch Syndrome
- Predisposition to Colorectal Ca
- Also
- Endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin.
- Also
- Autosomal Dominant
- Earlier than sporadic, later than FAP
- Less severe than in FAP
- Few tumors later in life
- Genetic instability
- Expansion or contraction of the length of microsatellites
- Microsatellite instable (MSI+)
- Genes involved:
- MSH2 (Mut S Hololog 2)
- Encodes a protein that is required for recognition and repair of DNA mismatches
- MLH1
- MSH6 (Mut S Homolog 6)
- PMS2 (Postmeiotic segregation 2)
- Mut L homolog 3 (MLH3)
- MSH2 (Mut S Hololog 2)
- ~3% of population
Cowden Syndrome
- Lifetime risk for developing CRC: 10%
- Risk of breast cancer: 50%
- Other lesions:
- Lipomas
- Fibromas
- Ganglioneuromas
- Hamartomas
- specific cutaneous lesions (facial trichilemmomas and acral verrucous papules)
- Benign breast fibroadenomas, neurofibromas, lipomas
- Uterine leiomyomas
- Meningiomas
- Germline mutations in PTEN
- Tumor suppressor gene
- Encoding the phosphatase and tensin homolog
- On chromosome 10
- Tumor suppressor gene
Turcot Syndrome
Syndromes associated with Pituitary adenoma
MEN-1 Syndrome
- Autosomal dominant
- Tumors of
- Pituitary
- in 25% of patients with MEN-1 syn.
- Parathyroid glands
- Pancreatic islet cells. Pituitary adenomas develop in 25% of patients with MEN type-1.
- Pituitary
Carney complex
- rare
- spotty skin pigmentation
- myxomas
- endocrine overactivity
- schwannomas
- Pituitary adenoma
Syndromes associated with Thyroid Papillary Ca
- Turcot Syndrom
- Gardner Syndrome
- Familial Polliposis
- Familial Papillary Syn.
Syndromes associated with soft tissue sarcoma
Li Fraumeni Syndrome
- Rare
- Autosomal Dominant
- Linked with germline mutations
- germline p53 tumor suppressor gene mutation
- Detects damaged DNA and helps for repair or arranged cell death ( apoptosis )
- germline p53 tumor suppressor gene mutation
- CHEK2 mutations
- Controls p53
- Is activated by ATM
- High susceptibily to CANCER
- Breast Ca
- Gastric Ca
- Brain tumors
- Acute leukemia
- Soft tissue sarcomas
- Pediatric Rhabdomyosarcoma
- Bone sarcomas
- Adrenal cortical carcinoma
- Presents at young age
- Multiple times of ca diagnosis
Neurofibromatosis
- Autosomal Dominant
- Nerve tissue grows tumor
- Neural crest cells
- Schwann cells
- Melanocytes
- Endoneural fibroblast
Syndromes associated with Thymoma
Good's Syndrome
- Thymoma with immunodeficiency
- Combined B and T cell immunodeficiency in adults
- Increased susceptibility infections
- Bacterial encapsulated organisms
- Opportunistic viral
- Opportunistic fungal
- Most consistent immunological abnormalities
- Hypogammaglobulinaemia
- Reduced or absent B cells
- Treatment:
- Resection of the thymoma
- Immunoglobulin replacement to maintain adequate trough IgG.
Myastenia Gravis
- Autoimmune neuromuscular junction disorder
- Presence of antiacetylcholine receptor antibodies
- ==> Acetylcholine receptor deficiency at the motor end plate
- Rapid exhaustion of voluntary muscular contractions, with a slow return to the normal state
Syndromes associated with Cutaneous malignancy
Gorlin Syndrome
- Autosomal Dominant
- Nevoid Basal Cell Carcinoma Syndrome
- Defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones
- PTCH mutation
- Medulloblastoma
Turcot Syndrome
- Mismatch repair cancer syndrome
- Rare
- Alternative form of two other syndromes associated with polyp formation:
- Multiple adenomatous colon polyps
- Increased risk of Brain and Colon Ca
- GBM
- Medulloblastoma
- Thyroid Ca
- Autosomal Dominant
- MLH1
- PMS2
Von Hippel Lindau
- Rare
- Autosomal dominant
- Mutation in the von Hippel–Lindau tumor suppressor gene on chromosome 3
- Increase risk benign and malignant tumours
- Cafe au lait spots
- Most common tumours:
- CNS
- CNS tumor
- Retinal hemangioblastomas
- Kidney
- RCC (Clear cell)
- Pheochromocytomas
- Pancreas
- Pancreatic neuroendocrine tumours
- Pancreatic cysts
- CNS
Albinism
Xeroderma Pigmentosum
- defect in base excision repair
- Ultra sensitive to light and radiation
- SCC and melanoma skin
Rothmund–Thomson syndrome
Fanconi anemia
page revision: 47, last edited: 04 Mar 2013 15:10