Both chromosome 13 abnormalities by metaphase cytogenetics and deletion of 13q by interphase FISH only are prognostically relevant in multiple myeloma

European Journal of Haematology - Tập 71 Số 3 - Trang 179-183 - 2003
H Kaufmann1,2,3, Elisabeth Krömer1,2,3, Thomas Nösslinger1,2,3, Ansgar Weltermann1,2,3, Jutta Ackermann1,2,3, Regina Reisner1,2,3, M. Bernhart1,2,3, Johannes Drach1,2,3
11 Department of Medicine I, 2Clinical Division of Oncology and 3Division of Hematology, University Hospital Vienna
24Institute of Medical Biology, University of Vienna
3the5Third Department of Medicine , and the6Ludwig-Boltzmann-Institute for Leukemia Research and Hematology, Hanuschspital, Vienna, Austria

Tóm tắt

Abstract:Objectives: Deletion of chromosome 13q [del(13q)] has emerged as a major adverse prognostic factor in multiple myeloma (MM). Del(13q) is detected two to three times more frequently by interphase fluorescence in situ hybridization (FISH) than by metaphase cytogenetics (CG). However, it has remained unclear whether or not del(13q) detected by FISH only provides the same prognostic information as its detection by CG.Methods: We investigated the outcome of 118 consecutive patients with newly diagnosed MM who were studied by both CG and FISH (RB‐1 and/or D13S319 probes).Results: CG revealed informative MM karyotypes in 35 patients (29.7%), with monosomy 13/del(13q) in 16 of them. FISH was indicative for a del(13q) in 43 patients (36.4%). A del(13q) by FISH was present in all 16 patients with monosomy 13/del(13q) by CG and also in four of 19 patients with informative karyotypes and diploid chromosome 13. Furthermore, del(13q) was present by FISH in 23 of 84 patients with diploid/non‐informative metaphases by CG. Overall survival of patients with monosomy 13/del(13q) by CG and of patients with del(13q) by FISH only was not significantly different (median, 35.2 months vs. 33.2 months, P = 0.58). In contrast, patients with diploid chromosome 13 by either technique experienced prolonged survival (median, 65.6 months). Presence of abnormal karyotypes was significantly associated with an increased Ki67 growth fraction.Conclusion: FISH of chromosome 13q adds prognostic information to that provided by CG. It is suggested to use FISH analysis in clinical trials if risk stratifications take into consideration the chromosome 13q status.

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Tài liệu tham khảo

10.1046/j.1365-2141.1996.d01-2939.x

Tricot G, 1995, Poor prognosis in multiple myeloma is associated only with partial or complete deletion of chromosome 13 or abnormalities involving 11q and not with other karyotypic abnormalities, Blood, 86, 4250, 10.1182/blood.V86.11.4250.bloodjournal86114250

10.1200/JCO.1997.15.7.2659

10.1046/j.1365-2141.1998.00657.x

Desikan R, 2000, Results of high dose therapy for 1000 patients with multiple myeloma: durable complete remissions and superior survival in the absence of chromosome 13 abnormalities, Blood, 96, 4008, 10.1182/blood.V95.12.4008

Perez‐Simon JA, 1998, Moro MJ, Hernandez JM, San‐Miguel JF, Orfao A. Prognostic value of numerical chromosome aberrations in multiple myeloma: a FISH analysis of 15 different chromosomes, Blood, 91, 3366, 10.1182/blood.V91.9.3366

Zojer N, 2000, multiple myeloma, deletion of 13q14 remains an independent adverse prognostic parameter despite its frequent detection by interphase FISH, Blood, 95, 1925, 10.1182/blood.V95.6.1925

10.1182/blood.V97.6.1566

10.1007/s002770100296

Fonseca R, 2002, Biological and prognostic significance of interphase fluorescence in situ hybridization detection of chromosome 13 abnormalities (Δ13) in multiple myeloma: an Eastern Cooperative Oncology Group study, Cancer Res, 62, 715

Shaughnessy J, 2001, Early relapse after total therapy II for multiple myeloma (MM) is significantly associated with cytogenetic abnormalities of chromosome 13 (CA13) but not interphase FISH‐del 13 or plasma cell labeling index PCLI, Blood, 98, 734a

10.1159/000131482

Schweizer D., 1981, Counterstain‐enhanced chromosome banding, Hum Genet, 57, 1

ISCN, 1995, An international system for human cytogenetic nomenclature

10.1046/j.1365-2141.1998.01124.x

10.1038/sj.leu.2401909

10.1016/0165-4608(94)00284-I

10.1002/(SICI)1098-2264(199702)18:2<84::AID-GCC2>3.0.CO;2-X

10.1182/blood.V85.9.2490.bloodjournal8592490

10.1182/blood.V98.7.2229

10.1038/sj.leu.2402125

10.1016/S0165-4608(99)00009-6

10.1046/j.1365-2141.2002.03757.x

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European Journal of Haematology

Tập 71 Số 3

179-183

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