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20 Cards in this Set
- Front
- Back
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Specific loci for commonly screwed-up genes: EWS in soft tissue IGH RET BCL2 BRAF |
EWS = 22q12 IGH = 14q32 RET = 10q11.2 BCL2 = 18q21 BRAF = 7q34 |
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Hemepath - Lymphoma gene rearrangments Mantle Cell Follicular lymphoma Burkitt MALT lymphoma CML & ALL B-ALL favorable and poor prognosis AML favorable prognosis Hepatosplenic T cell lymphoma Anaplastic large T cell lymphoma MDS |
Mantle cell - t(11;14) Cyclin D1 with IGH Follicular - t(14;18) IGH with BCL2 Burkitt - t(8;14) c-myc with IGH; also t(2;8) and t(8;22) MALT - t(11;18) BCL2 with MLT CML & AML - t(9;22) BCR-ABL Ph chr; truncated 22 is evil; t(9;12) JAK-TEL AML favorable - t(8;21) ETO-AML1 and hyperdiploidy; hypodiploidy is bad; inv(16) - makes eosinophilic AML (FAB type M4); t(15;17) PML-RARa - makes APML Hepatosplenic - isochromosome 7q ALCL - t(2;5) ALK-NPM - same as ALK in lung cancer MDS - del 7q, 5q, t(11;var), trisomy 8 |
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Soft Tissue gene rearrangements 1 DFSP and giant cell fibroblastoma Alveolar rhabdomyosarcoma Alveolar soft parts sarcoma and translocation carcinoma of the kidney Infantile fibrosarcoma, mesoblastic nephroma, and secretory ca of the breast |
DFSP & giant cell fibroblastoma - t(17;22) Col1a1-PDGFB (collagen and a growth factor) Alveolar rhabdo - t(2;13) PAX3-FKHR (75%) and t(1;13) PAX7-FKHR (10%) Alveolar soft parts - t(X;17) ASP1-TFE3 Infantile fibrosarc = t(12;15) EVR6-NTRK3 (or TEL-TRKC depending on who you ask) |
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Soft Tissue gene rearrangements 2 Well-diff and de-diff liposarcoma Myxoid/round cell liposarcoma Pleomorphic liposarcoma Low-grade fibromyxoid sarcoma Clear cell sarcoma |
Well-diff & de-diff liposarcoma - 12q13-15 amplified; includes MDM2 and CDK4 Myxoid/round cell liposarcoma - t(12;16) FUS-DDIT3 (95%), also called TLS and CHOP; also t(12;22) CHOP-EWS (5%) Pleomorphic liposarcoma - None Low-grade fibromyxoid sarcoma - t(7;16) FUS-CREB3L2 Clear cell sarcoma - t(12;22) ATF-EWS (91%) |
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Soft Tissue gene rearrangements 3 Ewing's/PNET Desmoplastic small round cell tumor Synovial sarcoma |
Ewing's - t(11;22) FLI1-EWS (95%) Desmoplastic small round cell tumor - t(11;22) WT1-EWS Synovial sarcoma - t(X;18) SS18-SSX1, SSX2, or SSX4 |
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Lung Cancer Mutations EGFR KRAS ALK
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EGFR - cannot use erlotinib or gefitinib. Female never-smokers. KRAS - cannot use erlotinib or gefitinib. Cannot occur with increased EGFR -> KRAS -> BRAF. So if you turn off EGFR (using drugs), but downstream KRAS is constitutively ON, you've accomplished nothing. ALK - can use crizotinib. Cannot occur in conjuction with other abnl. |
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Thyroid Cancer Mutations Papillary thyroid cancer Tall cell variant of papillary Follicular thyroid carcinoma |
Papilllary - t(10;various) RET-PTC (where PTC - placeholder for lot of genes) Tall cell variant - 7q34 BRAF gene (same as in melanoma) Follicular - t(2;3) PAX8-PPARgamma |
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Phakomatoses (neuro-oculo-cutaneous syndromes) Tuberous sclerosis Von Hippel Lindau NF1 NF2 |
TS - 9q34 (TSC1 = hamartin) and 16p13 (TSC2 = tuberin) VHL - 3p25.3 VHL gene NF1 - 17q11 NF1 (von Recklinghausen) NF2 - 22q11 Merlin (NF2 on 22) |
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Dermpath Cowden syndrome Gorlin syndrome Birt-Hogg-Dube Brooke-Spiegler Melanoma |
Cowden - 10q23 PTEN mutations (PTEN on 10) Gorlin - 9q22 PATCHED gene Birt-Hogg-Dube - 17p11.2 FLCN gene (folliculin) Brooke-Spiegler - 16q12-13 CYLD gene (cylindroma) Melanoma - 7q34 BRAF testing for V600E, + allows use of venurafenib |
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GI Tumor Syndromes Gardner's syndrome/FAP Lynch Syndrome/Muir Torre syndrome Peutz-Jeghers syndrome |
FAP - 5q21-22 APC gene (traditional colon cancer pathway) Lynch - MLH1, MSH2, MSH6, PMS2 genes (microsatellite instability) Peutz-Jeghers - chromosome 19p LKB1 gene (also called STK11) |
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Miscellaneous Extrarenal rhabdoid tumor and ATRT Endometrial stromal sarcoma Adenoid cystic carcinoma MEN1 MEN2a MEN2b Carney syndrome Li Fraumeni syndrome |
Extrarenal rhabdoid & ATRT - 22q del (INI-1) Endometrial stromal sarcoma - t(7;17) JAZF1-JJAF1 Adenoid cystic carcinoma - t(6;9) MYB-NFIB MEN1 - 11q13 - Menin gene (Men11n or MEN1 is on 11) MEN2a - 10q11.2 - RET MEN2b - 10q11.2 - RET Carney syndrome - 2p16 abnormalities - PRKARIA gene Li Fraumeni - 17p13.1 p53 gene |
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Small Round Blue Cell Tumors Ewing's/PNET Desmoplastic small round blue cell tumor Retinoblastoma Medulloblastoma Small cell carcinoma (and RCC) Wilms tumor |
Ewing's/PNET - t(11;22) Desmoplastic small round blue cell tumor - t(11;22) also WT1 Retinoblastoma - del 13q; oncogene Rb (13q14) Medulloblastoma - del 17q, isochromosome 17q Small cell ca (& RCC) - del 3p Wilms tumor - del 11p (WT1 11p13) |
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Additional Soft Tissue Tumors Meningioma Leiomyoma Leiomyosarcoma Myxoid chondrosarcoma DFSP Fibrosarcoma
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Meningioma - del 22 Leiomyoma - t(12;14); del 7 Leiomyosarcoma - del 1p Myxoid chondrosarcoma - t(9;22) DFSP - ring 17 Fibrosarcoma - +8, +11, +17, +20 |
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Tumor Suppressor Genes p53 EWS BRCA-1 APC NF1 |
p53 (17p13.1) EWS (22q12) BRCA-1 (17q21) APC (5q21-22) NF1 (17q11)
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Oncogenes ABL BCL-1 BCL-2 C-MYC |
ABL (9q34) BCL-1 (11q13) BCL-2 (18q21) C-MYC (8q24) |
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Wilson's disease is due to mutations in the gene for _? |
ATP7B -for copper transporting ATPase located in the trans-Golgi network of the liver
-low serum ceruloplasmin due to secretion of a rapidly degraded ceruloplasmin apoprotein that has failed to incorporate copper from the ATP7B transport site |
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Alagille's syndrome |
-paucity of bile ducts associated with various facial, vertebral, cardiac, and opthalmologic abnormalities -related to jagged-1 gene mutation |
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Carney Complex vs. Carney triad |
Complex: autosomal dominant, skin/heart/breast myxomas, endocrine & non-endocrine tumors, and spotty skin pigmentation -17q22-24 (CNC1) & 2p16 (CNC2) = PRKARIA tumor suppressor gene
Triad: non-familial, GISTs, pulmonary chonddroma, and extra-adrenal paraganglioma |
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McCune-Albright Syndrome |
1) Polyostotic fibrous dysplasia 2) Cafe-au-lait skin pigmentation 3) Endocrinopathies (sexual precocity, hyperthyroidism, GH-secreting pituitary adenomas, primary adrenal hyperplasia) |
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Hutchison's syndrome |
Describes multiple skeletal metastases in neuroblastoma
-Pepper's syndrome is mainly associated with hepatic metastases |
