Chromosomes / translocations
22 October 2005, copyright © 2002-2005, PathologyOutlines.com, LLC
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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)
t(2;5)(p23;q35): ALK and NPM; anaplastic large cell lymphoma (T/NK subtypes, 40-70%), inflammatory myofibroblastic tumor
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
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
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
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
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)
References: more information
t(3;21)(q26;q22): EVI1 and AML1; CML and myelodysplastic syndrome
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
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
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)
References: IL3 information
t(5;12)(q33;p13): PDGFRB and ETV6; chronic myelomonocytic leukemia with eosinophilia
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)
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
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
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
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
References: Nat Med 2002;8:743 (free), Proc Natl Acad Sci USA 2005;102:4016 (free), more information
t(8;22)(q24;q11): c-myc and lambda light chain; Burkitt’s lymphoma (10%)
References: more information
9p amplification involving REL gene: primary mediastinal B cell lymphoma
References: Leuk Lymphoma 2003;44 Suppl 3:S21, Blood 1996;87:1571 (free)
t(9;11)(p22;q23): AF9 and MLL/ALL1; AML-M5a and M4; therapy related AML; rarely ALL (Genes Chromosomes Cancer 1991;3:74)
References: Hum Mol Genet 2000;9:1671 (free), more information
t(9;14)(p13;q32): PAX5 and IgH; lymphoplasmacytic lymphoma (0-50%), diffuse large B cell lymphoma and other B cell lymphoproliferative disorders
References: Blood 1996;88:4110 (free), Genes Chromosomes Cancer 2005;44:218, Hum Path 2004;35:447 (not characteristic for lymphoplasmacytic lymphoma), Leuk Lymphoma 2000;36:435, more information
t(9;15)(q22;q11-q21): TEC/CHN and TCF12; extraskeletal myxoid chrondrosarcoma
References: Am J Path 2003;162:781 (free), Cancer Res 2000;60:6832 (free), more information
t(9;17)(q22;q11-12): TEC/CHN and TAF2N/RBP56; myxoid chondrosarcoma [variant of t(9;22)]
References: Cancer Res 1999;59:5064 (free), Am J Path 2003;162:781 (free), Hum Path 2001;32:1116, Oncogene 1999;18:7594, AJSP 2000;24:1020, TAF2N (more information)
t(9;22)(q22-31;q11-12): TEC/CHN and EWS; extraskeletal myxoid chondrosarcoma
References: Mod Path 1995;8:765, Cytopathology 1991;2:261, Genes Chromosomes Cancer 2002;35:340
t(9;22)(q34;q11): c-abl and bcr (Philadelphia chromosome); CML (100%), preB ALL (5% of children, 25% of adults), AML
References: Mayo Clin Proc 2005;80:390, Clin Lab Sci 2005;18:38, more information (CML), more information (ALL)
Translocations - chromosome 10
10q rearrangements: monosomy 10 and t(2;10)(p23;q24) are associated with sclerosing perineurioma (AJSP 2005;29:1164), 10q rearrangements are also associated with papillary thyroid carcinoma (Cancer 2001;92:2529)
t(10;14)(q24;q11): HOX11 and T cell receptor delta; preT-ALL (5-10%)
References: Proc Natl Acad Sci USA 1990;87:3161 (free), Leuk Lymphoma 1995;16:209, more information-translocation; more information-HOX11
t(10;14)(q24;q32): NFKB-2/LYT10 and IgH; low grade non-Hodgkin’s lymphomas
References: Cell 1991;67:1075, OMIM 164012 (NFKB-2)
Translocations - chromosome 11
11q-: myelodysplastic syndrome (Haematologica 2005;90:1168), various non-Hodgkin’s lymphomas including mantle cell (more information)
11q23 deletion: mantle cell lymphoma (50%), diffuse large B cell lymphoma (24%), CLL (10-20%)
References: Br J Haematol 2005;128:460, Haematologica 2000;85:908, Leukemia 2001;15:1721
t(11;11)(q23;q23): MLL/ALL1 (self-fusion); AML (frequent), ALL (10% involve 11q23 rearrangements, less involve self-fusion)
References: Proc Natl Acad Sci USA 1998;95:2390 (free), Leuk Res 2005;29:517, Blood 1996;87:2496 (free), Cancer Res 1997;57:117, MLL info
t(11;14)(p13;q11): rhombotin 2 (TTg-2, RBTN2) and T cell antigen receptor alpha/delta; T-ALL (5% of childhood cases)
References: Leukemia 1995;9:1812, more information
t(11;14)(p15;q11): rhombotin 1 (TTg-1/LMO1) and TCR alpha/delta; T-ALL (<1%)
References: Mol Cell Biol 1989;9:2124 (free), more information
t(11;14)(q13;q32): BCL1/cyclin D1 and IgH; mantle cell lymphoma (90%), B cell prolymphocytic leukemia (20%, may represent mantle cell variant, Br J Haematol 2004;125:330), splenic lymphoma with villous lymphocytes (10%), CLL (2-5%), myeloma (2-5%, Blood 1996;88:674 (free))
References: Archives 1999;123:1182,.Hum Path 2002;33:7, more information
t(11;17)(q23;q21): PLZF and retinoic acid receptor-alpha; AML M3 variant (rare)
References: Semin Hematol 2001;38:37, Proc Natl Acad Sci USA 1997;94:10255 (free), more information-translocation, PLZF
t(11;18)(q21;q21): API2 and MALT1; MALT lymphoma (50%); also diffuse large B cell lymphoma
References: Mod Path 2003;16:1232 (colorectal lymphomas), Int J Hematol 2005;82:59 (cytologic specimens), more information
t(11;19)(q23;p13): ALL1 and ELL; AML, often M4/M5; also M1/M2, therapy related
References: Proc Natl Acad Sci USA 1994;91:12110 (free), Cancer Genet Cytogenet 2001;129:17 (case report), more information
t(11;22)(p13;q12): WT1 and EWS; desmoplastic small round cell tumor
References: AJSP 2002;26:823, Archives 2002;126:1226 (lung tumor) [correction at Archives 2003;127:782], Mod Path 2002;15:673 (dural tumor), AJSP 1992;16:411 (original report), Semin Cancer Biol 2005;15:197
t(11;22)(q24;q12): FLI1 and EWS; Ewing sarcoma/PNET (90% of cases)
References: Adv Anat Pathol 2005;12:212, Cancer Res 2005;65:4633
Translocations - chromosome 12
12q-: myelodysplastic syndrome, germ cell tumors
References: Archives 2005;129:1299, Cancer Genet Cytogenet 1995;80:158
12: trisomy: CLL/SLL (10-30%). ovarian granulosa cell tumor
References: Blood 1993;82:571 (free), J Clin Oncol 1984;2:1121, more information
i(12p): associated with intratubular germ cell neoplasia; germ cell tumors
References: Mod Path 2005;18 Suppl 2:S51. APMIS 2003;111:161
t(12;14)(q14-15;q23-24): HMGA2/HMGIC and various; smooth muscle tumors (benign and malignant), lipoma, pleomorphic adenoma of salivary gland and elsewhere, pulmonary chondroid hamartomas
References: Cancer Genet Cytogenet 1988;32:13 (uterine leiomyomas), Cancer Genet Cytogenet 2002;138:50 (various smooth muscle tumors), Mod Path 2002;15:351 (intravenous leiomyomatosis), more information-HMGA2
t(12;15)(p13;q25): ETV6 and NTRK3; infantile (congenital) fibrosarcoma, cellular mesoblastic nephroma, secretory carcinoma of breast (Genes Chromosomes Cancer 2004;40:152), AML (Blood 1999;93:1355 (free), case report)
References: Mod Path 2000;13:29, Mod Path 2001;14:1246, AJSP 2000;24:937, Nat Genet 1998;18:184, Pathol Res Pract 2003;199:35, Hum Path 2003;34:1299 (secretory carcinoma), more information (secretory carcinoma)
t(12;16)(q13;p11): CHOP and TLS; myxoid and round cell liposarcoma, rarely epithelioid variant of pleomorphic liposarcoma (Histopathology 2005;46:334)
References: J Mol Diagn 2000;2:132 (free), Semin Diagn Path 2001;18:267 (review), more information-TLS, more information-CHOP/DDIT3
t(12;21)(p12-13;q22): TEL/ETV6 and AML1/CBFA2; preB ALL (20%)
References: Curr Opin Hematol 2002;9:345, Diagn Mol Path 2000;9:184, more information
t(12;22)(p13;q11-12): TEL/ETV6 and MN1; AML
References: Mol Cell Biol 2000;20:9281 (free), more information, MN1-more information, ETV6-more information
t(12;22)(q13;q12): CHOP and EWS; myxoid liposarcoma (rare)
References: J Mol Diagn 2002;4:164 (free), Clin Cancer Res 2000;6:2788 (free), more information-CHOP/DDIT3
t(12;22)(q13;q12): ATF1 and EWS; clear cell sarcoma of soft parts (>95%)
References: J Mol Diagn 2002;4:44 (free), more information-clear cell sarcoma of soft parts, more information-ATF1
Translocations - chromosome 13
13q-: myelodysplastic syndrome, myeloproliferative disorders, AML, atypical CLL, splenic lymphoma with villous lymphocytes, mantle cell lymphoma (leukemic)
References: Blood 1998;91:231 (free), more information #1, #2