- VernacularTitle:一例伴有低亚二倍体异常的多发性骨髓瘤的临床和实验研究
- Author:
Shu-xiao BAI
1
;
Jin-lan PAN
;
Yong-quan XUE
;
Su-ning CHEN
;
Ya-fang WU
;
Yong WANG
;
Jun ZHANG
;
Juan SHEN
Author Information
- Publication Type:Case Reports
- MeSH: Abnormal Karyotype; Adult; Cytogenetics; methods; Female; Gene Rearrangement; genetics; Humans; Multiple Myeloma; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2012;29(3):343-346
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo report the clinical and laboratory characterization of a case of multiple myeloma with low hypodiploid complex karyotyptic abnormalities.
METHODSCytogenetic examination of bone marrow performed by 24 h culture method. R-banding technique was used to analyze the karyotype. Interphase fluorescence in situ hybridization (FISH) was performed using chromosome probes such as 13q14, p53, Rb1, 1q21 and IgH/CCND1. The DNA content was detected by flow cytometry.
RESULTSChromosome analysis revealed complex chromosomal rearrangement. Five cells had a low hypodiploid karyotype with 35 chromosomes. Three cells had the duplication of the low hypodiploid karyotype. Four cells had a normal karyotype. Monosomy 1, 13, 14, 17 and a mark chromosome 1 derived from chromosome 11 resulting in the amplication of CCND1 gene were confirmed by interphase FISH. Flow cytometric analysis displayed a low hypodiploid peak with the DNA index of 0.8426.
CONCLUSIONThese results indicated that the low hypodiploidy is a rare abnormality in multiple myeloma. Interphase FISH is a reliable method for detecting molecular abnormalities in multiple myeloma.