Chromosomal microarray analysis is superior in identifying cryptic aberrations in patients with acute lymphoblastic leukemia at diagnosis/relapse as a single assay

Autor:	Alvin Soon Tiong Lim, Lai Ching Lau, Tse Hui Lim, Evelyn Yee Hsieh Heng, Sim Leng Tien, Gee Chuan Wong, Chuanfei Chen
Rok vydání:	2019
Předmět:	Adult Male medicine.medical_specialty Adolescent DNA Copy Number Variations Chronic lymphocytic leukemia Clinical Biochemistry Loss of Heterozygosity Chromosomal translocation 030204 cardiovascular system & hematology Gastroenterology 03 medical and health sciences 0302 clinical medicine CDKN2A Recurrence Internal medicine Complex Karyotype medicine Humans In Situ Hybridization Fluorescence Aged Chromosome Aberrations medicine.diagnostic_test business.industry Biochemistry (medical) Karyotype Hematology General Medicine Middle Aged Precursor Cell Lymphoblastic Leukemia-Lymphoma medicine.disease Leukemia Lymphocytic Chronic B-Cell ETV6 medicine.anatomical_structure Female Bone marrow business 030215 immunology Fluorescence in situ hybridization
Zdroj:	International journal of laboratory hematology. 41(4)
ISSN:	1751-553X
Popis:	Introduction Conventional cytogenetics (CC) is important in diagnosis, therapy, monitoring of post-transplant bone marrow, and prognosis assessment of acute lymphoblastic leukemia (ALL). However, due to the nature of ALL, CC often encounters difficulties of complex karyotype, poor chromosome morphology, low mitotic index, or normal cells dividing only. In contrast, chromosomal microarray analysis (CMA) showed a specificity >99% and a sensitivity of 100% in chronic lymphocytic leukemia (CLL) patients. Here, we report our experience with CMA on adult ALL patients. Methods Thirty-three bone marrow/blood samples from ALL patients (aged 18-79 years, median 44) at diagnosis/relapse, analyzed by CC and/or fluorescence in situ hybridization (FISH), were recruited. Chromosomal microarray analysis results were compared with CC. Fluorescence in situ hybridization analysis, if available, was applied when there was a discrepancy. Results Copy-neutral loss-of-heterozygosity (CN-LOH) was found in 8 cases (24.2%). Only CN-LOH at 9p was recurrent (3 cases, 9.1%). Copy number alterations (CNAs) were detected in 6 of 9 cases (66.7%) with normal karyotypes, in 3 of 5 cases (60.0%) with sole "balanced" translocations, and in 18 of 19 cases (94.7%) with complex karyotypes. Common CNAs involved CDKN2A/2B (30.3%), IKZF1 (27.3%), PAX5 (9.1%), RB1 (9.1%), BTG1 (6.7%), and ETV6 (6.7%), which regulate cell cycle, B lymphopoiesis, or act as tumor suppressors in ALL. Copy number alteration detection rate by CMA was 81.8% (27 of 33 cases) as compared to 57.6% (19 of 33 cases) by CC. Conclusion Incorporation of CMA as a routine clinical test at the time of diagnosis/relapse, in conjunction with CC and/or FISH, is highly recommended.
Databáze:	OpenAIRE
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