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27 Cards in this Set
- Front
- Back
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Name 5 Cancer Syndromes that involve stomach cancer
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Stomach Cancer:
*Hereditary Diffuse Gastric Cancer *HNPCC *LFS *FAP *PJS |
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What is the 5 year survival of stomach cancer?
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5 year survival of stomach cancer
5-15% |
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What kind of cancer is stomach cancer?
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Stomach Cancer
95% adenocarcinoma (Papillary/ tubular/ mucinous/ signet ring) The other 5% are lymphoma, leiomyosarcoma, carcinoid, squamous cell |
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What are the 2 major types of Gastric Cancer
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2 major types of Gastric Cancer
*Diffuse Variant *Intestinal Variant |
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What do you see in the diffuse variant of gastric cancer
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Diffuse Variant
*younger pts *worse prognosis *assoc with Barrett's epithelium *PRoximal *Linitis plastica = just a thickening of the stomach lining - more "diffuse" not a specific defined area |
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What gene causes Hereditary Diffuse Gastric Cancer?
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Hereditary Diffuse Gastric Cancer
CDH1 gene (E-cadherin) |
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What kind of mutation happens in the CDH1 Gene to cause Hereditary Diffuse Gastric Cancer
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mostly frameshift, truncating
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What are the clinical criteria to diagnose Hereditary Diffuse Gastric Cancer?
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the clinical criteria to diagnose Hereditary Diffuse Gastric Cancer
2+ cases of diffuse gastric cancer in 1st or 2nd deree relatives, one being <50 3+ cases of diffuse gastric cancer in 1st or 2nd degree relatives at any age Any individual with diffuse gastric cancer <35 Any family with history of both diffuse gastric cancer and lobular breast cancer |
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Do we test minors for Hereditary Diffuse Gastric Cancer?
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Yes - earliest onset of Hereditary Diffuse Gastric Cancer is age 14
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With a CDH1 gene mutation what is the lifetime risk for gastric cancer (males and females)
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With a CDH1 gene mutation the lifetime risk for gastric cancer is
Male = 67% Female = 83% |
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What kind of breast cancer is associated with CDH1 gene mutation (Hereditary Diffuse Gastric Cancer)?
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associated with CDH1 gene mutation (Hereditary Diffuse Gastric Cancer)
Lobular Breast Cancer 20 - 40% lifetime risk |
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How do you maanage someone with Hereditary Diffuse Gastric cancer?
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Mgt Hereditary Diffuse Gastric Cancer
EGD every 6-12 months Mammo + MRI alternating 6 months PET? Prophylactic total gastrectomy? Chemoprevention with NSAIDS? |
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What kind of Syndromes are seen with liver cancer (hepatoblastoma)
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Syndromes causing Liver Cancer:
* FAP * Overgrowth (Beckwith-Wiedemann/ Simpson-Golabi-Behmel) |
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Name four syndromes caused by chromosomal breakage?
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Chromosomal Breakage
*Ataxia telangiectasia *Bloom Syndrome *Fanconi Anemia *Xeroderma Pigmentosum |
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What gene causes Ataxia Telangiectasia and how is it inherited?
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Ataxia Telangiectasia
ATM gene Autosomal Recessive |
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Ataxia Telangiectasia - What kind of cancers do you see?
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Ataxia Telangiectasia Cancers:
Non-hodgkins lymphoma leukemia gastric cancer medulloblastoma Basal Cell carcinoma Glioma Uterine cancer |
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What is the gene that causes Bloom Syndrome and how is it inherited?
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Bloom Syndrome
BLM gene - Autosomal Recessive |
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What cancers are seen in Bloom Syndrome (BLM gene)
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cancers seen in Bloom Syndrome (BLM gene)
*leukemia *lymphoid neoplasma *Wilms tumor *tongue/ larynx/ lung/ esophagus/ colon/ breast/ cervix |
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What other conditions are seen in Bloom Syndrome (BLM gene)
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Bloom Syndrome (BLM gene)
*immunodeficiency *high pitched voice *small jaw *skin lesions *low IQ *DM *Pulmonary disease |
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Fanconi Anemia B has what type of inheritance?
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Fanconi B (FANCB) X-Linked
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What kind of cancers are seen with Fanconi Anemia?
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Fanconi Anemia Cancers:
*acute Myeloid Leukemia *Myelodysplactic Syndrome *tumors of head/ neck/ skin/ GI/genital/ liver |
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Xeroderma Pigmentosum - what is the gene and the inheritance
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Xeroderma Pigmentosum:
Many genes Autosomal Recessive |
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Xeroderma Pigmentosum
What are some of the cancers? |
Xeroderma Pigmentosum Cancers
non-melanoma skin cancer < 10 y.o. glioma solid tumors (lung/ uterus/ breast/ pancreas/ stomach/ kidney) |
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Xeroderma Pigmentosum
What are some of the eye abnormalities? |
Xeroderma Pigmentosum / Eye abnormalities
photophobia keratitis of eyelids Pigmented eye lids loss of lashes |
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Xeroderma Pigmentosum
CNS abnormalities |
Xeroderma Pigmentosum -CNS abnormalities
acquired microcephaly diminished deep tendon reflexes |
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What is the 2009 Chompret Criteria
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Chompret Criteria:
Criteria for testing LiFraumeni |
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What is LFL Li-Fraumeni Like Syndrome
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If the p53 testing is negative but they meet clinical features then they have LFL syndrome
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