韩国华氏巨球蛋白血症患者的分子细胞遗传学分析

Molecular cytogenetic analysis of Korean patients with Waldenström macroglobulinemia.

作者信息

Bang Soo-Mee, Seo Ji-Weon, Park Kyung Un, Kim Seok Jin, Kim Kihyun, Kim Sun-Hee, Cho Sung Ran, Kim Hugh C, Song Jaewoo, Kim Jin Seok, Kim Kyung Hee, Lee Jae Hoon, Lee Je-Jung, Shin Myung Geun, Suh Cheolwon, Chi Hyun Sook, Oh Do-Yeun, Won Jong-Ho, Kim Hyo Jung, Yoon Sung-Soo, Lee Dong Soon

机构信息

Seoul National University Bundang Hospital, 300 Gumi-dong, Bundang-gu, Seongnam-si, Gyeongi-do, 463-707, Korea.

出版信息

Cancer Genet Cytogenet. 2010 Mar;197(2):117-21. doi: 10.1016/j.cancergencyto.2009.11.008.

DOI:10.1016/j.cancergencyto.2009.11.008

PMID:20193844

Abstract

To compare the molecular cytogenetic characteristics between Waldenström macroglobulinemia (WM) and multiple myeloma (MM), we performed interphase fluorescent in situ hybridization (FISH) in Korean patients with WM and MM. Forty patients with WM and 132 patients with MM were enrolled onto the study. FISH was performed with seven different probes: 6q21, 6q23, CEP4, CEP9, immunoglobulin (IgH) breakapart, RB1 gene, and 1q25. Out of 22 WM patients, 4 (18%) had abnormal karyotypes, mainly structural changes on conventional karyotyping. After performing FISH for the available 29 cases, deletions of 6q23 and 6q21 were newly detected in 3 cases (10%). There was no other anomaly, including trisomy 4 in WM. No 6q deletion was observed in MM patients, but RB1 deletion was the most common change (45%), followed by IgH translocation (42%) and gain of 1q (38%). In conclusion, Korean WM patients had a low rate of 6q deletion (10%) and no trisomy 4.

摘要

为比较华氏巨球蛋白血症（WM）和多发性骨髓瘤（MM）之间的分子细胞遗传学特征，我们对韩国的WM和MM患者进行了间期荧光原位杂交（FISH）检测。40例WM患者和132例MM患者纳入本研究。使用七种不同的探针进行FISH检测：6q21、6q23、CEP4、CEP9、免疫球蛋白（IgH）断裂探针、RB1基因和1q25。在22例WM患者中，4例（18%）核型异常，主要是传统核型分析中的结构改变。对可用的29例进行FISH检测后，3例（10%）新检测到6q23和6q21缺失。WM中未发现其他异常，包括4号染色体三体。MM患者未观察到6号染色体长臂缺失，但RB1缺失是最常见的改变（45%），其次是IgH易位（42%）和1q获得（38%）。总之，韩国WM患者6号染色体长臂缺失率低（10%）且无4号染色体三体。