Radiation Oncology/Cancer Syndromes/Syndromes You Should Know
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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
- 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
- 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
- defect in base excision repair (NER pathway)
- Ultra sensitive to light and radiation
- SCC and melanoma skin
- autosomal recessive
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