Diagnosis of adult Philadelphia chromosome-like acute lymphoblastic leukemia by fluorescence in situ hybridization
10.3760/cma.j.issn.0253-2727.2020.09.008
- VernacularTitle:应用荧光原位杂交技术诊断成人Ph样急性淋巴细胞白血病
- Author:
Dainan LIN
1
;
Qiuli LI
;
Xianjun HE
;
Huan LI
;
Libin LIAO
;
Han HE
;
Lingling ZHOU
;
Zhen LI
;
Xiaoli LIU
;
Qifa LIU
;
Hongsheng ZHOU
;
Rui CAO
Author Information
1. 南方医科大学南方医院血液科，广州 510515
- Keywords:
Fluorescence in situ hybridization;
Leukemia, lymphoblastic, acute;
Philadelphia chromosome-like
- From:
Chinese Journal of Hematology
2020;41(9):749-755
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To establish a screening system of adult Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) by fluorescence in situ hybridization (FISH) .Method:Based on the genetic characteristics of Ph-like ALL, FISH probes were designed for ABL1, ABL2, JAK2, EPOR, CRLF2, CSF1R, PDGFRB, and P2RY8 gene breakpoints, which were used to screen Ph-like ALL in B-ALL patients without BCR-ABL1, ETV6-RUNX1, MLL, and E2A gene arrangement. Furthermore, it was analyzed in combination with flow immunophenotype, next-generation sequencing for targeted gene mutations, and RNA sequencing (RNA-seq) .Results:A total of 189 adult B-ALL patients diagnosed in Nanfang Hospital from January 2016 to April 2019 were enrolled in this study. Using FISH and/or PCR, BCR-ABL1, ETV6-RUNX1, MLL, or E2A arrangement was detected in 83 of them, and Ph-like ALL was detected by FISH in the other 106, resulting in the presence of typical gene arrangements of Ph-like ALL in 12 patients (11.3% , 12/106) . Validated by RNA-seq, the sensitivity and specificity of FISH for Ph-like ALL were 71.4% and 95.8% , respectively. After further analysis with immunophenotype, targeted gene mutations, and RNA-seq, 14 (13.2% , 14/106) were diagnosed with Ph-like ALL.Conclusion:This data shows high specificity of FISH for identification of Ph-like ALL and combining immunophenotype and sequencing technology can improve the diagnostic system.
