Radiation Oncology/Cancer Syndromes/Syndromes You Should Know
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Autosomal Dominant, but has incomplete penetrance
Earlier than sporadic, later than FAP: 45 years (vs 63 for sporadic)
Less severe than in FAP
Rare
Autosomal Dominant
Linked with germline mutations
CHEK2 mutations
Is activated by ATM
High susceptibly to CANCER
Presents at young age
Multiple times of ca diagnosis
defect in base excision repair (NER pathway)
Ultra sensitive to light and radiation
SCC and melanoma skin
autosomal recessive
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Syndrome associated with Esophageal Ca
Plummer-Vinson Syndrome
- Patterson Kelly Syndrome = Sideropenia (iron deficiency) syn.
- Increase chance of Ca in:
- Esophagus
- Oral Cavity
- Hypopharynx
Syndromes associated with Colorectal Ca
Familial Adenomatous Polyposis (FAP)
-
= Gardner Syndrome
- Individuals with FAP develop hundred to thousands of benign colonic polyps during their early adulthood
- If not removed by surgery —>develop into adenocarcinomas
- Autosomal Dominant
- 100% Penetrance, 100% progress to carcinoma, most by age 30
- Gene on chromosome 5q21
- Also get desmoid tumors
Hereditary non-polyposis colorectal cancer (HNPCC)
- Lynch Syndrome
- Predisposition to Colorectal Ca
- Also increased risk for Endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin.
- Few tumors later in life
- Genetic instability
- Expansion or contraction of the length of microsatellites
- Microsatellite instable (MSI+)
- Genes involved:
- MSH2 (Mut S Homolog 2)
- Encodes a protein that is required for recognition and repair of DNA mismatches
- MLH1
- MSH6 (Mut S Homolog 6)
- PMS2 (Post-meiotic segregation 2)
- Mut L homolog 3 (MLH3)
- MSH2 (Mut S Homolog 2)
- ~3% of population. Estimated to be responsible for ~5% of colorectal cancer; conversely, patients with HNPCC have ~80% risk of colon cancer and 30-50% risk of endometrial cancer
Cowden Syndrome
See PTEN
- 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
See 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 Syndrome
- Gardner Syndrome
- Familial Polyposis
- Familial Papillary Syn.
Syndromes associated with Soft Tissue Sarcoma
Li Fraumeni Syndrome
See Li Fraumeni
- germline p53 tumor suppressor gene mutation
- Detects damaged DNA and helps for repair or arranged cell death ( apoptosis )
- Controls p53
- Breast Ca
- Gastric Ca
- Brain tumors
- Acute leukemia
- Soft tissue sarcomas
- Pediatric Rhabdomyosarcoma
- Bone sarcomas
- Adrenal cortical carcinoma
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
- Hypogammaglobulinemia
- Reduced or absent B cells
- Treatment:
- Resection of the thymoma
- Immunoglobulin replacement to maintain adequate trough IgG.
Myasthenia Gravis
- Autoimmune neuromuscular junction disorder
- Presence of anti-acetylcholine 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
See Nevoid Basal Cell Carcinoma Syndrome (NBCCS)
- 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 tumors
- Cafe au lait spots
- Most common tumors:
- CNS
- CNS tumor
- Retinal hemangioblastomas
- Kidney
- RCC (Clear cell)
- Pheochromocytomas
- Pancreas
- Pancreatic neuroendocrine tumors
- Pancreatic cysts
- CNS
Albinism
Xeroderma Pigmentosum
Rothmund–Thomson syndrome
Fanconi anemia
See Fanconi Anemia
- Autosomal recessive/X-linked disorder
- Causes congenital marrow failure, poor growth, morphologic abnormalities, and usually macrocytic anemia.
- Most common cause of congenital aplastic anemia --> Most patients are diagnosed by the age of 16 and have a predisposition for developing cancer
- Dx is made by chromosomal breaks on genetic analysis along with clinical findings:
- Middle ear abnormalities + deafness, abnormal/absent thumbs (Hypoplastic thumbs), cafe au lait spots, etc