Chromosomal Abnormalities

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