Chromosomes / translocations
Last revised 26 October 2008
Copyright © 2002-2008, PathologyOutlines.com, Inc.
Translocations/cytogenetics abnormalities (by first chromosome): general, #1, #2, #3, #4, #5, #6, #7, #8, #9, #10, #11, #12, #13, #14, #15, #16, #17, #18, #20, #21, #22, #X, #Y
Proteins/genes commonly rearranged (by chromosome): #1, #2, #3, #4, #5, #6, #7, #8, #9, #10, #11, #12, #13, #14, #15, #16, #17, #18, #19, #20, #21, #22, #X
American Journal of Surgical Pathology (AJSP), January 2001 to December 2003, January to October 2005
Archives of Pathology and Laboratory Medicine (Archives), January 2002 to December 2003, February to October 2005
Human Pathology (Hum Path), January 2002 to November 2003, June to September 2005
Modern Pathology (Mod Path), January 2002 to December 2003, February to March 2005, August to October 2005
Rosai, J: Ackerman’s Surgical Pathology (9th Ed); Mosby, 2004
Websites: Atlas of Genetics and Cytogenetics in Oncology and Hematology
Please refer to these primary references for more detailed discussions
Translocations and other cytogenetics abnormalities
Useful particularly for leukemia, lymphoma, germ cell tumors and soft tissue tumors
Analysis requires fresh tissue transported in sterile transport medium
Tissue is disaggregated, cultured, harvested and placed on a slide; chromosomes are spread out, stained with Giemsa and examined
Interphase cytogenetics: does not require fresh tissue; techniques include chromosome painting (uses chromosome specific probes), use of centromeric probes, use of cosmid probes
Translocations may be due to aberrant V(D)J recombinase activity in lymphocytes (Archives 2003;127:1148)
t(1;2)(p22;p12): BCL10 and kappa light chain; MALT lymphoma (rare)
t(1;2)(q22-25;p23): tropomyosin alpha-3 chain and ALK; common in inflammatory myofibroblastic tumor; rare in anaplastic large cell lymphoma
References: more information
t(1;3)(p36;q21): MEL1 and RPN1; myelodysplastic syndrome (rare)
References: more information
t(1;3)(p36.3;q25): proteins unknown; epithelioid hemangioendothelioma
References: AJSP 2001;25:684
t(1;7)(p34;q34): LCK and TCR beta; T-ALL
References: more information
t(1;7)(q10;p10): proteins unknown; myelodysplastic syndrome (rare)
References: more information
t(1;13)(p36;q14): PAX7 and FKHR; alveolar rhabdomyosarcoma; variant often in younger patients, extremities, better prognosis than t(2;13)
References: more information
t(1;14)(p22;q32): BCL10 and IgH; MALT lymphoma (rare)
References: more information
t(1;14)(p32;q11): TAL1/SCL and T cell receptor alpha/delta; pre-T ALL (15-30%)
References: more information
t(1;14)(q21;q32):BCL9 and IgH; preB ALL, mantle cell lymphoma
References: more information
t(1;14)(q25;q32): LHX4 and IgH; preB ALL (rare)
References: more information
t(1;16)(p11;p11): proteins unknown; hyaline vascular Castleman’s disease
References: AJSP 2000;24:882
t(1;17)(q32;q21): bizarre parosteal osteochondromatous proliferation (Hum Path 2004;35:1063)
t(1;19)(q23;p13.3): PBX1 and E2A; pre-B ALL (30%)
References: Mol Cell Biol 1994;14:3938 (full text)
t(1;22)(p13;q13): OTT and MAL; AML-M7 in infants
References: Genes Chromosomes Cancer 2002;33:22, Blood 2002;100:618 (free), more information
t(1;22)(p36.1;q12): ZSG and EWS genes; Ewing’s sarcoma/PNET (rare)
References: Oncogene 2000;19:3799
t(1;22)(q22;q11): FC gamma RIIb and lambda light chain; follicular lymphoma
References: OMIM 604590
2: trisomy: found in embryonal rhabdomyosarcoma (Cancer Res 1988;48:983), peripheral medulloblastoma (AJSP 2003;27:1008), hepatoblastoma (Genes Chromosomes Cancer 1991;3:231), pleuropulmonary blastoma (AJSP 1997;21:854), myelodysplastic syndrome (Clin Lab Haematol 2005;27:270)
inv(2)(p23;q35): ALK and ATIC; anaplastic large cell lymphoma (2%)
t(2;3)(p23;q21): ALK and TFG (tropomyosin receptor kinase fused gene); anaplastic large cell lymphoma (very rare)
References: more information
t(2;3)(q13;p25): PAX8 and PPAR gamma 1; follicular thyroid carcinoma (50%), follicular adenoma (8%)
References: AJSP 2002;26:1016, Am J Path 2005;167:223
t(2;3)(q31;q21): unknown proteins; fibrous hamartomas (Archives 2005;129:520)
Images: H&E and karyotype
t(2;5)(p23;q35): ALK and NPM; anaplastic large cell lymphoma (T/NK subtypes, 40-70%), inflammatory myofibroblastic tumor
Images: schematic; karyotype; FISH of rib anaplastic large cell lymphoma
Molecular images: ALK translocation is indicated by separation of green and orange probes of ALK gene in inflammatory myofibroblastic tumor (a), but not leiomyosarcoma (b)
References: Blood 1989;73:806 (early report), Blood 1996;87:284 (free), Mod Path 2002;15:931 (inflammatory myofibroblastic tumor), AJSP 2003;27:1473 [large B cell lymphoma with t(2;5)], more information
t(2;8)(p12;q24): kappa light chain and c-myc; Burkitt’s lymphoma (15%); rarely mantle cell lymphoma
Images: karyotype #1; #2 (top row); diagram (right side)
References: more information, Mod Path 2002;15:1266 (mantle cell lymphoma)
t(2,8)(p12-16;q24): REL and ?; diffuse large cell lymphoma
References: Blood 2004;103:1862
t(2;10)(p23;q24): proteins unknown; case report with sclerosing perineurioma (AJSP 2005;29:1164)
t(2;11)(q31-32;q12): described in fibroma of tendon sheath (Histopathology 1998;32:433) and desmoplastic fibroblastoma/collagenous fibroma (Cancer Genet Cytogenet 2004;149:161)
t(2;13)(q35;q14): PAX3 and FKHR; alveolar rhabdomyosarcoma
Images: karyotype #1; #2
References: Genes Chromosomes Cancer 1995;12:186, Am J Path 1995;146:626, AJSP 2002;26:938, more information
t(2;14)(p13;q32): BCL11A and IgH; rare in CLL, ALL or AML
References: Leukemia 2002;16:937, Blood 2001;98:3413 (free), Leuk Lymphoma 2002;43:2063 (case report), more information
t(2;17)(p23;q23): ALK and CLTC; inflammatory myofibroblastic tumor, anaplastic large cell lymphoma (very rare)
References: Am J Path 2001;159:411 (free),.Mod Path 2003;16:828, more information
t(2;18)(p11-12;q21): kappa light chain and BCL2; CLL/SLL (<5%), follicular lymphoma (<5%)
References: Leuk Lymphoma 1992;8:197, Oncogene 1992;7:573, Br J Haematol 1991;78:132
t(2;19)(p23;p13.1): ALK and TPM4; inflammatory myofibroblastic tumor
References: Am J Path 2000;157:377 (free), more information
t(2;22)(q33;q12): FEV and EWS; Ewing’s sarcoma/PNET (rare)
References: Oncogene 1997;14:1159
Trisomy 3: T cell lymphomas (20-30%, particularly lymphoepithelioid, angioimmunoblastic and ATLV subtypes), MALT lymphoma (50-70% show total or partial trisomy 3), mantle cell lymphoma (10-15%)
References: Am J Path 1998;153:689 (MALT lymphoma), Hum Path 1999;30:706 (MALT); Leukemia 2004;18:1722 (MALT frequency varies by site), more information
inversion 3(q21q26) and t(3;3)(q21;q26): EVI1; myelodysplastic syndrome, AML, myeloproliferative disorder
Images: karyotype
References: Haematologica 2003;88:1221, Ann Hematol 2000;79:374. Cancer 1985;55:535, Haematologica 1999;84:690, more information
t(3;5)(q25;q34-35): MLF1 and NPM; myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia
Images: karyotype
References: Hum Path 2003;34:809 (AML and myelodysplasia), Leukemia 2000;14:1757, more information
t(3;8)(p21;q12): CTNNB1 and PLAG1; pleomorphic adenoma of salivary gland
References: Mod Path 2005;18:1048, Nat Genet 1997;15:170
t(3;12)(q27;q14-15): HMGA2 and LPP; lipoma, pulmonary chondroid hamartoma (Genes Chromosomes Cancer 1998;22:100), soft tissue chondroma
References: Mod Path 2003;16:1132 (chondroma), more information
t(3;14)(q27;q32): BCL6 and IgH; diffuse large B cell lymphoma (30%), follicular lymphoma (10%); nodular lymphocyte predominant Hodgkin’s lymphoma (J Mol Diagn 2005;7:352)
Images: karyotype (lower row)
References: more information
t(3;21)(q26;q22): EVI1 and AML1; CML and myelodysplastic syndrome
Images: karyotype
References: Oncogene 2004;23:4263, more information
t(4;11)(q21;q23): AF4 and ALL1/MLL; preB ALL (10%), post-treatment ALL (Ann Hematol 1992;65:143). rarely AML M4/M5
Images: karyotype #1; #2
References: Blood 2005;105:3434, more information
t(4;14)(p16;q32): FGFR3 and IgH; multiple myeloma (20-30%)
References: Blood 2005;105:4060, Clin Cancer Res 2004;10:5692, more information
5q- / del(5q): common in myelodysplastic syndrome, AML
Images: karyotype #1
References: Hematology 2004;9:271,.more information
t(5;9)(q31;p24): IL3 and JAK2 genes; case report of ALL with eosinophilia (Archives 2003;127:601)
Images: karyotype
References: IL3 information
t(5;12)(q33;p13): PDGFRB and ETV6; chronic myelomonocytic leukemia with eosinophilia
Images: karyotype
References: Acta Haematol 2002;107:113, Blood 1995;85:2848 (free), more information
t(5;14)(q31;q32): IL3 and IgH; preB ALL with peripheral eosinophilia
References: more information
t(6;9)(p23;q34): DEK and CAN; AML (1%), myelodysplastic syndrome (rare)
Images: karyotype #1; #2
References: Leukemia 2005;19:1338, AJCP 1997;107:430, Blood 1992;79:2990 (free), more information
t(6;9)(q21-25;p13-24): adenoid cystic carcinoma
References: Eur J Oral Sci 2004;112:545, Genes Chromosomes Cancer 2001;30:161
t(6;11)(p21;q12-13); TFEB and Alpha; renal neoplasm of children and young adults
Images: fusion protein and gel
References: AJSP 2005;29:230, Proc Natl Acad Sci USA 2003;100:6051 (free), Hum Mol Genet 2003;12:1661 (free), more information, OMIM 600744
t(6;12)(q23;q15): ? and HMGA2/HMGIC; hyaline vascular Castleman’s disease
References: AJSP 2002;26:662
t(6;14)(p21.1;q32.3); cyclin D3 and IgH; gastrointestinal stromal tumors, multiple myeloma (4%), diffuse large B cell lymphoma
References: Mod Path 2003;16:886 (GIST), Blood 2001;98:2837 (free), more information
t(6;14)(p25;q32): MUM/IRF4 and IgH; multiple myeloma (20%)
References: Leukemia 1999;13:1812
7: monosomy or 7q-: associated with myelodysplastic syndrome, AML
References: Mayo Clin Proc. 2005;80:681, more information
7: trisomy / tetrasomy: associated with papillary renal cell carcinoma
References: Mod Path 2003;16:1053, Nat Genet 1998;20:66
i(7q): Wilm’s tumor (Cancer Genet Cytogenet 1998;104:61-children, AJSP 2000;24:1663-adults), hepatosplenic alpha-beta T cell lymphoma (AJSP 2001;25:285), hepatosplenic gamma-delta T cell lymphoma (Leukemia 1997;11:1367)
t(7;9)(q34;q34.3): TCR beta and TAN1/NOTCH1; T-ALL (rare, although aberrations in NOTCH1 signaling are common)
References: Cell 1991;66:649, Cancer Lett 2005;219:113, more information
t(7;16)(q34;p11): proteins unknown; low grade fibromyxoid sarcoma, hyalinizing spindle cell tumor with giant rosettes
Images: complex karyotype includes t(7;16)
References: AJSP 2003;27:1229, Archives 2000;124:1179
t(7;17)(p15;q21): JAZF1 and JJAZ1; endometrial stromal sarcoma (50-80%)
References: AJSP 2004;28:224, Proc Natl Acad Sci USA 2001;98:6348 (free), Cancer Genet Cytogenet 2003;144:119, J Mol Diagn 2005;7:388, OMIM 606246
t(7;19)(q34-35;p13): TCR beta and LYL1; T-ALL
References: Mol Cell Biol 1996;16:2394 (free), more information
t(7;22)(p22;q12): ETV1 and EWS; Ewing’s sarcoma/PNET (rare)
References: OMIM 600541-ETV1, Cancer Res 2000;60:1536
8: trisomy: CML (10%) and other myeloproliferative disorders (10-20%), myelodysplasia (15-20%, Blood 2005;106:841), AML (10-15%), ALL (5%), desmoid type fibromatosis (Cancer Genet Cytogenet 1995;79:139, Genes Chromosomes Cancer 1994;10:131), hepatosplenic gamma/delta lymphoma (Leukemia 1996;10:1453), peripheral medulloblastoma (AJSP 2003;27:1008-case report)
References: hematologic disorders-more information
t(8;9)(q24;p13): ? c-myc and ?; B-ALL (Archives 2003;127:610-case report)
t(8;13)(p11-12;q11-12): FGFR1 and ZNF198; T cell lymphoblastic lymphoma, myeloproliferative disorder
References: Nat Genet 1998;18:84, Acta Haematol 2002;107:101, more information
t(8;14)(q24;q32.3): c-myc and IgH; Burkitt’s lymphoma (75%), ALL-L3 (6%); rarely mantle cell lymphoma
Images: karyotype (middle row); diagram; FISH of IgH/c-myc fusion gene #1 (figure 3A); #2 (mantle cell lymphoma, figure 4A)
References: AJSP 2003;27:818 (Burkitt’s in transplant recipients), Mod Path 2002;15:1266 (mantle cell lymphoma), Leukemia 2003;17:585, more information
t(8;21)(q22;q22): ETO and AML1; AML-M2 (10%) with Auer rods, granulocytic sarcoma
Images: