| Acoustic neuromas (bilateral) | del 22q12 (NF2) | |
| Aniridia | 11p13 (WT1) | |
| ALL, Pre-B (L1, L2) | t(1;19)(q23p13) (E2A-PBx1) t(4;11)(q21;q23) - poor prognosis t(9;22)(q34;q11) (bcr-abl) - poor prognosis |
|
| AML - M2 | t(8;21)(q22;q22) (ETO-AML1) (40%) | |
| AML - M3 | t(15;17)(q22;q11) (PML-RARA) | |
| AML - M4Eo | inv 16, del 16q22 (MyHII-CBFB) | |
| AML - therapy related | 11q23 (MLL 1) | |
| Alveolar rhabdomyosarcoma | t(2;13)(q37;q14) (Pax3-FKHD) t(1;13) (Pax7-FKHD) |
|
| Alveolar soft parts sarcoma | 17q25 | |
| Anaplastic large cell lymphoma | t(2;5)(p23;q35) (ALK-NPM) | |
| bcr | 22q11 | |
| Breast Cancer (familial) | 17q21 (BRCA 1) | |
| Burkitt's Lymphoma (ALL L3) | t(8;14)(q24;q32) (c-myc - IgH) t(2;8)(p12;q24)(IgK - c-myc) t(8;22)(q24;q11) (c-myc - IgL) |
|
| Chronic Myelogenous Leukemia | t(9;22)(q34;q11) (bcr - abl) | |
| CML progression | der22, +8, i17q | |
| c-myc | 8q24 | |
| Cerebellar Hemangioblastoma | 3p25 (von Hippel Lindau) | |
| Clear Cell Sarcoma |
t(12;22)(q24;q12) (ATF-EWS) (90%) |
|
| Colorectal Carcinoma | 5q-, 17p-, 18q- | |
| Congenital Heart Disease | +14q, +21, +18, +13, +22, +9, XO | |
| Cyclin-D | 11q13 | |
| Cystic Fibrosis | 7q31-32 | |
| Denys-Drash | 11p13 (WT1) | |
| DFSP | rearr 17 | |
| Down Syndrome | tri 21 | |
| Edward's Syndrome | tri 18 | |
| Endometrial Polyps (stroma) | 6p21 | |
| Ewing's/PNET | t(11;22)(q24;q12) (FLI-1 - EWS)
(95%) t(21;22) (ERG - EWS) t(7;22) |
|
| EWS | 22q12 | |
| Fibrosarcoma, Infantile | +8, +11, +17, +20 (90%) | |
| Germ cell tumors (teratoma) | iso 12p, del 12q (80%) | |
| Giant cell tumor (poor prognosis) | rearr. 19 | |
| Glioblastoma Multiforme | 17p-, 10q-, 9p- | |
| Huntington's Chorea | Chr 4 (AD) | |
| IgH | 14q32 | |
| Klinefelter's Syndrome | XXY | |
| Leiomyoma | t(12;14), del 7q | |
| Li-Fraumeni | 17p13 (germline p53 mutation) | |
| Lipoma | t(12;V), rearr. 12q14-15 (75%) | |
| Liposarcoma, Myxoid) | t(12;16)(q13;p11) (CHOP - FUS) (75%) | |
| Liposarcoma, Well-differentiated | ring 12, marker 12 | |
| Malignant Melanoma | 6q-, 9p- | |
| Medulloblastoma | iso 17q (NOT t(11;22) of PNET) | |
| Meningioma | mono 22 (c.f. NF2) (80%) | |
| Mesoblastic nephroma | abnormal 11 | |
| Mesothelioma | del 1p11-12; 3p-, 22q- (90%) | |
| Myxoid chrondrosarcoma | t(9;22)(q31;12) (50%) | |
| Neuroblastoma | del 1p36 (90%) near diploid, double minutes (n-myc amplif) - poor prognosis near triploid, no double minutes - good prognosis |
|
| Non-Hodgkin's Lymphoma | ||
| Mantle Cell FCC (PDL) FCC (DLCL) B-CLL/WDLL T-CLL |
t(11;14)(bcl1 - IgH; PRAD-1) t(14;18)(q32;q21)(IgH - bcl2) (90% PDL) t(14;18)(q32;q21)(IgH - bcl2) (30% DLCL) tri 12 (70%) inv 14 (q11q32) |
|
| Neurofribromas, Plexiform (NF1) | 17q11 | |
| Patau Syndrome | tri 13 | |
| Prostate cancer | -10, 8p-, 16q- | |
| Pseudohermaphrodtism | 11p13 (WT1) | |
| Renal Cell Carcinoma, clear cell | del 3p14-21 (vHL) | |
| Renal Cell Carcinoma, papillary | +7, +17 | |
| Retinoblastoma | del 13q14 (Rb1) (30% germline) | |
| Small Cell Lung Carcinoma | del 3p14-25 | |
| Synovial Sarcoma | t(X;18)(p11.2;q11.2) | |
| Teratoma (benign ovarian) | 46XX | |
| Wilms | 11p13 | |
| WT1 WT2 |
11p13 (30%) 11p15.5 |
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