İnsan kromozomlarındaki translokasyon ile ilişkili patolojiler

TranslocationAssociated diseasesFused genes/proteins
FirstSecond
t(8;14)(q24;q32)Burkitt’s lymphomac-myc on chromosome 8,
gives the fusion protein lymphocyte-proliferative ability
IGH@ (immunoglobulin heavy locus) on chromosome 14,
induces massive transcription of fusion protein
t(11;14)(q13;q32)Mantle cell lymphomacyclin D1 on chromosome 11,
gives fusion protein cell-proliferative ability
IGH@ (immunoglobulin heavy locus) on chromosome 14,
induces massive transcription of fusion protein
t(14;18)(q32;q21)Follicular lymphoma (~90% of cases)IGH@ (immunoglobulin heavy locus) on chromosome 14,
induces massive transcription of fusion protein
Bcl-2 on chromosome 18,
gives fusion protein anti-apoptotic abilities
t(10;(various))(q11;(various))Papillary thyroid cancerRET proto-oncogene on chromosome 10PTC (Papillary Thyroid Cancer) – Placeholder for any of several other genes/proteins
t(2;3)(q13;p25)Follicular thyroid cancerPAX8 – paired box gene 8 on chromosome 2PPARγ1 (peroxisome proliferator-activated receptor γ 1) on chromosome 3
t(8;21)(q22;q22)Acute myeloblastic leukemia with maturationETO on chromosome 8AML1 on chromosome 21
found in ~7% of new cases of AML, carries a favorable prognosis and predicts good response to cytosine arabinoside therapy
t(9;22)(q34;q11) Philadelphia chromosomeChronic myelogenous leukemia (CML), acute lymphoblastic leukemia (ALL)Abl1 gene on chromosome 9BCR (“breakpoint cluster region” on chromosome 22
t(15;17)(q22;q21)Acute promyelocytic leukemiaPML protein on chromosome 15RAR-α on chromosome 17
persistent laboratory detection of the PML-RARA transcript is strong predictor of relapse[
t(12;15)(p13;q25)Acute myeloid leukemia, congenital fibrosarcoma, secretory breast carcinoma, mammary analogue secretory carcinoma of salivary glands, cellular variant of mesoblastic nephromaTEL on chromosome 12TrkC receptor on chromosome 15
t(9;12)(p24;p13)CML, ALLJAK on chromosome 9TEL on chromosome 12
t(12;16)(q13;p11)Myxoid liposarcomaDDIT3 (formerly CHOP) on chromosome 12FUS gene on chromosome 16
t(12;21)(p12;q22)ALLTEL on chromosome 12AML1 on chromosome 21
t(11;18)(q21;q21)MALT lymphomaBIRC3 (API-2)MLT
t(1;11)(q42.1;q14.3)Schizophrenia
t(2;5)(p23;q35)Anaplastic large cell lymphomaALKNPM1
t(11;22)(q24;q11.2-12)Ewing’s sarcomaFLI1EWS
t(17;22)DFSPCollagen I on chromosome 17Platelet derived growth factor B on chromosome 22
t(1;12)(q21;p13)Acute myelogenous leukemia
t(X;18)(p11.2;q11.2)Synovial sarcoma
t(1;19)(q10;p10)Oligodendroglioma and oligoastrocytoma
t(17;19)(q22;p13)ALL
t(7,16) (q32-34;p11) or t(11,16) (p11;p11)Low-grade fibromyxoid sarcomaFUSCREB3L2 or CREB3L1