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Chromosomes / Translocations
Reviewer: Nat Pernick, M.D. (see Reviewers
page)
Revised: 8 October 2012, last major update 2004
Copyright: (c) 2002-2012, 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: karyotype
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%)
Images: karyotype #1 (lower row); #2; FISH of IgH/c-myc fusion gene (figure 3B)
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)
Images: karyotype
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
Images: karyotype
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
Images: karyotype #1; #2; diagram #1; #2
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%)
Images: karyotype
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)
Images: diagram of ALL1 duplication
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))
Images: karyotype #1; #2; FISH; PCR/Southern blot; peripheral blood - single and double fusion of cyclin D1-IgH cells
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
Images: fusion gene; fusion gene diagram; RT-PCR gel
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
Images: karyotype
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
Images: RT-PCR gel #1; #2 (dural 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
Images: (1) FISH shows three green signals in 2 cells on right side; (2) CLL with trisomy 12 (figures 5a, 6), focal cyclin D1+ but t(11;14) negative; (3) FISH of ovarian granuloma cell tumor: trisomy 12, monosomy 17
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
Images: FISH (intravenous leiomyomatosis)
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)
Images: ideogram and FISH; gel for fusion transcript; secretory carcinoma karyotype
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%)
Images: karyotype
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)
Images: karyotype
References: Blood 1998;91:231 (free), more information #1, #2
13q14 deletion: CLL/SLL (50%), myelomas
References: Blood 2000;95:1925 (free)
der(13;21)(q10;q10): proteins unknown; mesenchymal chondrosarcoma
Images: karyotype of mesenchymal chondrosarcoma #1 (other abnormalities), #2, #3 (spectral)
References: Mod Path 2002;15:572
Translocations - chromosome 14
inv 14(q11;q32) and t(14;14)(q11;q32): TCR alpha/delta and TCL1; ataxia telangiectasia, T cell prolymphocytic leukemia (75%), adult T cell leukemia, T-ALL (rare), B-ALL (rare, Cancer Genet Cytogenet 1995;80:72)
Images: karyotype #1
References: Proc Natl Acad Sci USA 1988;85:9171 (free), Cell 1985;43(3 Pt 2):705, more information
t(14;15)(q32;q11-13): IgH and BCL8; diffuse large cell lymphomas (4%)
References: Proc Natl Acad Sci USA 1997;94:5728
t(14;16)(q32;q23): IgH and c-maf; multiple myeloma (10%)
Images: diagrams
References: Blood 1998;91:4457 (free)
t(14;18)(q32;q21): IgH and BCL2; follicular lymphoma (90%); secondary but not primary cutaneous follicular lymphoma, B cell ALL; diffuse large cell lymphoma (30%, probably of follicle center origin), rarely CLL (Archives 2005;129:410)
Images: (1) diagram; (2) karyotype; (3) CLL karyotype (with trisomy 12); (4) CLL with FISH
References: Am J Path 2002;160:759 (free, follicular lymphoma), AJSP 2003;27:356 (cutaneous diffuse large B cell lymphoma), Archives 2003;127:610 (B-ALL), Archives 2002;126:1543 (CLL), Archives 2002;126:902 (quality control), more information
t(14;18)(q32;q21): IgH and MALT1; MALT lymphomas (20%)
Images: diagram
References: Blood 2003;101:2335 (free)
t(14;19)(q32;q13): IgH and BCL3; CLL/SLL (5%)
Images: karyotype #1; #2
References: Leuk Lymphoma 2002;43:813, Genes Chromosomes Cancer 1997;20:64, more information
Translocations - chromosome 15
t(15;17)(q22;q12-21): PML and retinoic acid receptor-alpha; AML-M3 (acute promyelocytic leukemia)
Images: karyotype
References: Acta Haematol 2004;112:55, Curr Oncol Rep 2003;5:391, more information, more information - PML
Translocations - chromosome 16
i(16p) or 16q12-13 alterations affecting CYLD1 gene: spiradenocylindroma, dermal cylindroma, dermal analogue tumor (parotid gland tumor),
References: AJSP 2002;26:778, AJSP 2002;26:119
inv 16(p13;q22) / t(16;16)(p13;q22): CBF beta/PEBP2 beta and smooth muscle myosin heavy chain; AML-M4e, myelodysplasia
References: Science 1993;261:1041, Proc Natl Acad Sci USA 1998;95:11863 (free)
t(16;17)(q22;p13): CDH11 and USP6; aneurysmal bone cysts
References: Cancer Res 2004;64:1920 (free), Genes Chromosomes Cancer 1999;26:265
t(16;22);(q23;q11): c-maf and Ig lambda; multiple myeloma
References: Blood 1998;91:4457 (free)
Translocations - chromosome 17
17p-: myelodysplastic syndrome, AML, non-Hodgkin’s lymphoma
References: Blood 1998;91:1008 (free), more information-myeloid malignancies, more information-lymphoma
17: monosomy; ovarian granulosa cell tumor
Images: FISH of ovarian granuloma cell tumor- A: trisomy 12; B: monosomy 17
17: trisomy associated with papillary renal cell carcinoma (Mod Path 2003;16:1053)
t(17;17)(p13;q12): USP6 and ? COL1A1; soft tissue and osseous aneurysmal bone cyst
References: AJSP 2002;26:64, Oncogene 2005;24:3419
t(17;22)(q12;q12): E1AF and EWS; Ewing’s sarcoma/PNET (rare)
References: Cancer Lett 2004;216:1, Jpn J Cancer Res 1998;89:703
t(17;22)(q21-22;q13) or related ring chromosomes: COL1A1 and PDGF beta; dermatofibrosarcoma protuberans, giant cell fibrosarcoma
References: Oncogene 2001;20:2965, AJSP 2003;27:27, more information-PDGF beta
Translocations - chromosome 18
Trisomy 18: marginal zone lymphoma, MALT type (common), ALL-hyperdiploid form (15-27%), myelomas (10%), Hodgkin’s lymphoma (near triploid phenotypes), CLL (rare), diffuse large B cell lymphoma (triploid cases), follicular lymphoma (rare)
References: Blood 1996;87:299 (free), Cancer Genet Cytogenet 1994;77:39, more information
t(18;22)(q21;q21): lambda light chain (22q11) and BCL2 (18q21); <5% of CLL/SLL
References: Genes Chromosomes Cancer 1993;6:39, Genes Chromosomes Cancer 1991;3:205, Leukemia 1996;10:970, more information
Translocations - chromosome 20
20q-: myelodysplastic syndrome, myeloproliferative disorders, AML, myelomas (occasionally, Genes Chromosomes Cancer 2004;41:223)
References: Cancer Genet Cytogenet 2005;160:188, more information
20: trisomy associated with desmoid-type fibromatosis (Am J Path 1999;154:729 (free), Int J Cancer 1995;63:527), patients at risk for lung cancer (Cancer Epidemiol Biomarkers Prev 1998;7:1051)
Translocations - chromosome 21
21: trisomy; constitutional trisomy associated with Down’s syndrome; acquired trisomy 21 associated with AML, ALL, myelodysplastic syndrome
References: Leuk Res 1999;23:1079, Blood 1993;82:3098 (free), more information
t(21;22)(q22;q12): ERG and EWS; Ewing’s sarcoma/PNET (5-10%), desmoplastic small round cell tumor (rare, AJSP 1998;22:1026) References: Nat Genet 1994;6:146, J Clin Oncol 1999;17:1809
Translocations - chromosome 22
22: trisomy associated with inv(16)(p13q22)
References: more information
22: monosomy associated with soft tissue perineurioma (AJSP 2005;29:1164); monosomy or deletions present in 50-70% of sporadic meningiomas (Cancer Res 1990;50:5863); also granulosa cell tumor (Cancer Genet Cytogenet 1999;112:46)
t(22;22)(q13;q11): ? and bcr; variant Philadelphia chromosome CML
References: Leuk Res 1986;10:1131, Blut 1989;58:279
t(X;1)(p11.2;q21.2): TFE3 and PRCC; subtype of renal cell carcinoma
References: AJSP 2002;26:1553, Hum Mol Genet 1996;5:1338 (full text), more information
t(X;2)(q11;p23): MSN and ALK; anaplastic large cell lymphoma (very rare)
References: more information
t(X;6): subungual exostosis; also cases reports of AML-M7, premature ovarian failure, female with Duchenne muscular dystrophy
References: AJSP 2004;28:1033
t(X;17)(p11.2;q25): TFE3 and ASPL; pediatric renal carcinoma, alveolar soft parts sarcoma
References: AJSP 2003;27:750
t(X;18)(p11.2;q11.2): SYT and SSX1 or SSX2, rarely SSX4; synovial sarcoma (>90%), some other tumors
Images: FISH; FISH and karyotype; RT-PCR; gross, H&E and karyotype; RT-PCR of fusion transcripts
References: more information
Y: deletion associated with papillary renal cell carcinoma; also myelodysplasia, myeloproliferative disorders, AML
References: Mod Path 2003;16:1053 (papillary renal cell), hematologic maligancies-more information
tetraploidy: case report of liveborn neonate (died shortly thereafter, Archives 2003;127:1612)
Molecular images: FISH and karyotype
Proteins/genes commonly rearranged, by chromosome
1p11-13: N-ras
1p13: OTT; see t(1;22)(p13;q13)
1p22: BCL10; see t(1;2)(p22;p12), t(1;14)(p22;q32)
1p31-32: jun
1p32: L-myc-1
1p32: p18INK4c
1p32: TAL1; see t(1;14)(p32;q11)
1p34: LCK; see t(1;7)(p34;q34)
1p36: PAX7; t(1;13)(p36;q14)
1p36: MEL1; see t(1;3)(p36;q21)
1p36: ZSG; see t(1;22)(p36.1;q12)
1p36.1-36.2: fgr
1p36.3: p73
1q21: BCL9; see t(1;14)(q21;q32)
1q21.2: PRCC; see t(X;1)(p11.2;q21.2)
1q22-24: ski
1q23: PBX1; see t(1;19)(q23;p13.3)
1q25: tropomyosin 3 alpha chain; see t(1;2)
1q25: LHX4; see t(1;14)(q25;q32)
1q32-41: trk
2p11-12: kappa light chain; see t(1;2)(p22;p12), t(2;8)(p12;q24), t(2;18)(p11-12;q21)
2p12-16: REL; see t(2,8)(p12;q24)
2p13: BCL11A; see t(2;14)(p13;q32)
2p23: ALK; see t(2;5)(p23;q35), t(2;17)(p23;q23), t(X;2)(q11;p23), inv(2)(p23;q35), t(2;3)(p23;q21)
2p24: N-myc
2q13: PAX8; see t(2;3)(q13;p25)
2q33: FEV; see t(2;22)(q33;q12)
3p21: CTNNB1; t(3;8)(p21;q12)
3p22-24.1: erbA-2
3p25: raf-1
3p25: PPAR gamma 1; see t(2;3)(q13;p25)
3p25-26: VHL
3q21: RPN1; see t(1;3)(p36;q21)
3q21: TFG (tropomyosin receptor kinase fused gene); see t(2;3)(p23;q21)
3q25: MLF1; see t(3;5)(q25;q34)
3q26: EVI-1; see t(3;21)(q26;q22), inversion 3(q21q26) and t(3;3)(q21;q26)
3q27: BCL6; see t(3;14)(q27;q32)
3q27: HMGA2; see t(3;12)(q27;q15)
4p16: FGFR3; see t(4;14)(p16;q32)
4q21: AF4; see t(4;11)(q21;q23)
4q22: PKD2
5q21: APC
5q31: IL3; see t(5;9)(q31;p24), t(5;14)(q31;q32)
5q33: PDGFRB; see t(5;12)(q33;p13)
5q33-34: fms
5q34-35: NPM (nucleophosmin); see t(2;5)(p23;q35), t(3;5)(q25;q34)
6p21: pim-1
6p21: TFEB; see t(6;11)(p21;q12)
6p21.1: cyclin D3; see t(6;14)(p21.1;q32.3)
6p21.2: p21 WAF1/CIP1
6p23: DEK; see t(6;9)(p23;q34)
6q22: ros
6q22-24: myb
6q24-27: mas
6p25: MUM/IRF4; see t(6;14)(p25;q32)
7p1.1-1.3: erbB1
7p15: JAZF1; see t(7;17)(p15;q21)
7p22: ETV1; see t(7;22)(p22;q12)
7p31: met
7q34-35: TCR beta; see t(7;9)(q34;q34.3), t(7;19)(q35;p13)
8p12: wrn
8p12: FGFR1; see t(8;13)(p12;q12)
8q11: mos
8q12: PLAG1; see t(3;8)(p21;q12)
8q22: ETO; see t(8;21)(q22;q22)
8q24.1: c-myc; see t(2;8)(p12;q24), t(8;14)(q24;q32.3), t(8;22)(q24;q11)
9p13: PAX5; see t(9;14)(p13;q32)
9p21: p15INK4b
9p21: p16INK4a/CDKN2A
9p21: ARF
9p22: AF-9; see t(9;11)(p22;q23)
9p24: JAK2; see t(5;9)(q31;p24)
9q22: TEC/CHN; see t(9;17)(q22;q11.2), t(9;22)(q22-31;q11-12)
9q34: CAN; see t(6;9)(p23;q34)
9q34: TAN1/NOTCH; see t(7;9)(q34;q34.3)
9q34: TSC1 (produces hamartin protein)
9q34.1: c-abl
10q11.2: RET
10q23: PTEN; deletions associated with reduced survival in childhood nonbrainstem glioblastoma (Mod Path 2005;18:1258)
Images: loss of 10q23 by FISH (figure 1a)
10q24: HOX11; see t(10;14)(q24;q11)
10q24: NFKB-2; see t(10;14)(q24;q32)
11p13: WT-1; see t(11;22)(p13;q12)
11p13: rhombotin-2 / Ttg-2; see t(11;14)(p13;q11)
11p15: rhombotin-1 / Ttg-1; see t(11;14)(p15;q11)
11p15.5: H-ras
11q12: Alpha; see t(6;11)(qp21;q12)
11q13: int-2
11q13: menin (associated with MEN I)
11q13: sea
11q13: BCL1 (cyclin D1); see t(11;14)(q13;q32)
11q13: ccnd-1
11q13.3: hst-1
11q21: API2; see t(11;18)(q21;q21)
11q23: ALL1 (MLL); see t(4;11)(q21;q23), t(9;11)(p22;q23), t(11;11)(q23;q23), t(11;19)(q23;p13.1)
11q23: PLZF; see t(11;17)(q23;q21)
11q23-24: ets-1
11q24: FLI1; see t(11;22)(q24;q12)
12p11.1-12.1: K-ras
12p12-13: TEL (ETV6); see t(5;12)(q33;p13), t(12;15)(p13;q25), t(12;21)(p12;q22), t(12;22)(p13;q11-12)
12q13: KRT8 gene (produces cytokeratin 8)
12q13: CHOP; see t(12;16)(q13;p11), t(12;22)(q13;q12)
12q13: ATF1; see t(12;22)(q13;q12)
12q14-15: HMGA2/HMGIC; see t(6;12)(q23;q15), t(12;14)(q14-15;q23-24)
12q15: LPP; see t(3;12)(q27;q15)
13q12: ZNF198; see t(8;13)(p12;q12)
13q12-13: BRCA2
13q14: Rb
13q14: FKHR; see t(1;13)(p36;q14)
14q11: T cell antigen receptor alpha/delta; see t(1;14)(p32;q11), t(10;14)(q24;q11), t(11;14)(p13;q11), inv 14(q11;q32)
14q11: T cell antigen receptor alpha/beta: see t(11;14)(p15;q11)
14q21-22: fos
14q32: immunoglobulin heavy chain gene (IgH); see t(1;14)(p22;q32), t(1;14)(q21;q32), t(1;14)(q25;q32), t(2;14)(p13;q32), t(3;14)(q27;q32), t(4;14)(p16;q32), t(5;14)(q31;q32), t(6;14)(p21.1;q32.3), t(6;14)(p25;q32), t(8;14)(q24;q32.3), t(9;14)(p13;q32), t(10;14)(q24;q32), t(11;14)(q13;q32), t(14;15)(q32;q11-13), t(14;16)(q32;q23), t(14;18)(q32;q21), t(14;18)(q32;q21), t(14;19)(q32;q13)
14q32: BCL3
14q32: TCL1; see inv 14(q11;q32)
15q11-13: BCL8; see t(14;15)(q32;q11-13)
15q22: PML; see t(15;17)(q22;q12-21)
15q25: NTRK3; see t(12;15)(p13;q25)
15q25-26: fes
16p11: TLS/FUS; see t(12;16)(q13;p11)
16p13: smooth muscle myosin heavy chain; see inv 16(p13;q22) / t(16;16)(p13;q22)
16p13.3: PKD1
16p13.3: TSC2 gene (produces tuberin protein)
16q12-13: CYLD (cylindromatosis gene); see i(16p)
16q22: CBF beta/PEBP2 beta; see inv 16(p13;q22) / t(16;16)(p13;q22)
16q22: CDH11; see t(16;17)(q22;p13)
16q23: c-maf; see t(14;16)(q32;q23), t(16;22);(q23;q11)
17p11-21: erbA-1
17p13: USP6; see t(16;17)(q22;p13), t(17;17)(p13;q12)
17p13.1: p53
17q11-21: HER2 (c-erbB2 / neu)
17q11.2: NF1
17q11.2: TAF2N (RBP56); see t(9;17)(q22;q11.2)
17q12: E1AF
17q12: collagen 1A1; see t(17;17)(p13;q12)
17q12-21: retinoic acid receptor alpha; see t(11;17)(q23;q21), t(15;17)(q22;q12-21)
17q21: BRCA1
17q21: JJAZ1; see t(7;17)(p15;q21)
17q22: COL1A1; see t(17;22)(q22;q13)
17q23: CLTC (clatherin heavy polypeptide); see t(2;17)(p23;q23)
17q25: ASPL; see t(X;17)(p11.2;q25)
18q: DCC
18q11.2: SYT; see t(2;18)(p11-12;q21)
18q21: MALT1; see t(11;18)(q21;q21), t(14;18)(q32;q21)
18q21: BCL2; see t(2;18)(p12;q21), t(14;18)(q32;q21)
18q21.1: DPC4
18q21.3: yes
19p13: LYL1; see t(7;19)(q35;p13)
19p13: p19INK4d
19p13.1: ELL; see t(11;19)(q23;p13.1)
19q13.2-13.3: B-CAM
19p13.3: E2A; see t(1;19)(q23;p13.3)
19p13.3: ENL
19q13: BCL3; see t(14;19)(q32;q13)
20p12-13: src
21q22: AML1; see t(3;21)(q26;q22), t(12;21)(p12;q22)
21q22: ERG; see t(21;22)
21q24.3: ets-2
22q11: lambda light chain immunoglobulin; see t(8;22)(q24;q11), t(16;22);(q23;q11)
22q11: bcr
22q11: rearrangements associated with immunosuppression related lingual fibroepithelial polyps
22q11-12: MN1; see t(12;22)(p13;q11-12)
22q11-13.1: NF2
22q11.2: hSNF5/INI1 (deleted/mutated in rhabdoid tumor of kidney)
22q12: EWS; see t(1;22)(p36.1;q12), t(2;22)(q33;q12), t(7;22)(p22;q12), t(9;22)(q22-31;q11-12), t(11;22)(p13;q12), t(11;22)(q24;q12), t(12;22)(q13;q12)
22q13: PDGF beta chain; see t(17;22)(q22;q13)
22q13: MAL (MLK1); see t(1;22)(p13;q13)
Xp11.2: TFE3; see t(X;1)(p11.2;q21.2), t(X;17)(p11.2;q25)
Xp11.2: SSX1 or SSX2; see t(X;18)(p11.2;q11.2)
Xq11: MSN; see t(X;2)(q11;p23)
Xq22-28: L myc-2
End of Chromosomes/translocations chapter
