PMID- 36709950
OWN - NLM
STAT- MEDLINE
DCOM- 20230131
LR  - 20230202
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 2
DP  - 2023 Feb 10
TI  - [Genetic analysis of a case of B-acute lymphoblastic leukaemia with double 
      Philadelphia chromosomes and double derivative chromosome 9s].
PG  - 242-246
LID - 10.3760/cma.j.cn511395-20210527-00447 [doi]
AB  - OBJECTIVE: To explore the genetic basis for a rare case of acute B-lymphocytic 
      leukemia (B-ALL) with double Philadelphia chromosomes (Ph) and double derivative 
      chromosome 9s [der(9)]. METHODS: A patient with double Ph and double der(9) B-ALL 
      who presented at Shanghai Zhaxin Intergrated Traditional Chinese and Western 
      Medicine Hospital in June 2020 was selected as the subject. Bone marrow 
      morphology, flow cytometry, G-banding karyotyping, fluorescence in situ 
      hybridization (FISH), genetic testing and chromosomal microarray analysis (CMA) 
      were used to analyze bone marrow samples from the patient at various stages. 
      RESULTS: At initial diagnosis, the patient's bone marrow morphology and flow 
      immunotyping have both supported the diagnosis of B-ALL. G-banded karyotyping of 
      the patient indicated double Ph, in addition with hyperdiploid chromosomes 
      involving translocations between chromosomes 9 and 22. BCR-ABL1 fusion gene was 
      positive. Genetic testing at the time of recurrence revealed presence of a 
      heterozyous c.944C>T variant in the kinase region of the ABL1 gene. FISH showed a 
      signal for ABL1-BCR fusion on both chromosome 9s. CMA showed that the mosaicism 
      homozygosity ratio of chromosome 9 was about 40%, and the mosaicism duplication 
      ratio of chromosome 22 was about 43%. CONCLUSION: Since both der(9) homologs were 
      seen in 40% of cells, the possible mechanism for the double der(9) in this 
      patient may be similar to that of double Ph, which might have resulted from 
      non-disjunction during mitosis in the Ph chromosome-positive cell clone.
FAU - Zhang, Xuxi
AU  - Zhang X
AD  - Department of Clinical Laboratory, Shanghai Zhaxin Intergrated Traditional 
      Chinese and Western Medicine Hospital, Shanghai 200436, China. 
      youwenqin@hotmail.com.
FAU - Qin, Youwen
AU  - Qin Y
FAU - Fu, Zhaoqiang
AU  - Fu Z
FAU - Zhang, Bingyao
AU  - Zhang B
FAU - Su, Mengya
AU  - Su M
FAU - Zhao, Chuxian
AU  - Zhao C
FAU - Wang, Chun
AU  - Wang C
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - EC 2.7.10.2 (Fusion Proteins, bcr-abl)
SB  - IM
MH  - Humans
MH  - *Philadelphia Chromosome
MH  - In Situ Hybridization, Fluorescence/methods
MH  - China
MH  - Chromosome Aberrations
MH  - *Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics
MH  - Translocation, Genetic
MH  - Fusion Proteins, bcr-abl/genetics
MH  - Chromosomes, Human, Pair 9/genetics
EDAT- 2023/01/30 06:00
MHDA- 2023/02/01 06:00
CRDT- 2023/01/29 19:22
PHST- 2023/01/29 19:22 [entrez]
PHST- 2023/01/30 06:00 [pubmed]
PHST- 2023/02/01 06:00 [medline]
AID - 940640048 [pii]
AID - 10.3760/cma.j.cn511395-20210527-00447 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Feb 10;40(2):242-246. doi: 
      10.3760/cma.j.cn511395-20210527-00447.