PMID- 34690454 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20221003 IS - 0971-4502 (Print) IS - 0974-0449 (Electronic) IS - 0971-4502 (Linking) VI - 37 IP - 4 DP - 2021 Oct TI - A Systematic Cytogenetic Strategy to Identify Masked Hypodiploidy in Precursor B Acute Lymphoblastic Leukemia in Low Resource Settings. PG - 576-585 LID - 10.1007/s12288-021-01409-w [doi] AB - Hypodiploidy with < 40 chromosomes is associated with poor prognosis in B cell precursor acute lymphoblastic leukemia. In some patients, the hypodiploid clone undergoes endoreduplication, resulting in doubling of the number of chromosomes and masquerades as a high hyperdiploid BCP-ALL. Karyotyping reveals metaphases with 50-79 chromosomes masking the hypodiploid clone. Identifying hypodiploidy in such cases requires awareness of non random alterations of chromosomal copy numbers found in hypodiploid BCP-ALL. We used a systematic strategy to identify masked hypodiploidy integrating targeted fluorescence in situ hybridization (FISH) analysis directed towards identifying monosomies of chromosomes 7, 15 and 17 and flow cytometry-based ploidy analysis (FCPA). Of 445 patients diagnosed as BCP ALL, 2.9% (13/445) were classified as hypodiploid including patients with masked hypodiploidy. Karyotype analysis showed hypodiploidy in 3 patients, near triploidy in 4 patients and normal karyotype in 6 patients. Four patients with near triploid clone on karyotype showed either bimodal peak (2 patients) or single low hypodiploid peak (1 patient) or only near triploid peak (1 patient) on FCPA. All 6 patients with normal karyotype revealed either bimodal peak (4 patients) or hypodiploid peak (2 patients) on FCPA. Targeted FISH analysis unmasked hypodiploid clone showing monosomies of chromosomes 7, 15 and 17 in all ten patients. Our algorithm successfully identified masked hypodiploidy in patients, including those with endoreduplication (4 patients) and normal karyotype (6 patients). Integrating FCPA with targeted FISH analysis provides a practical, sensitive and specific approach to identify masked hypodiploidy in low resource settings. CI - (c) Indian Society of Hematology and Blood Transfusion 2021. FAU - Gupta, Tanvi AU - Gupta T AD - Department of Cytogenetics and Lab Hematology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 FAU - Arun, S R AU - Arun SR AD - Department of Cytogenetics and Lab Hematology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 FAU - Babu, G Ashish AU - Babu GA AD - Department of Cytogenetics and Lab Hematology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 FAU - Chakrabarty, Barun Kumar AU - Chakrabarty BK AD - Department of Cytogenetics and Lab Hematology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 FAU - Bhave, Saurabh Jayant AU - Bhave SJ AD - Department of Clinical Hematology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 FAU - Kumar, Jeevan AU - Kumar J AD - Department of Clinical Hematology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 FAU - Radhakrishnan, Vivek AU - Radhakrishnan V AD - Department of Clinical Hematology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 FAU - Krishnan, Shekhar AU - Krishnan S AD - Department of Pediatric Oncology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 FAU - Ghara, Niharendu AU - Ghara N AD - Department of Pediatric Oncology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 FAU - Arora, Neeraj AU - Arora N AD - Department of Lab Hematology and Molecular Pathology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 FAU - Mishra, Deepak Kumar AU - Mishra DK AD - Department of Lab Hematology and Molecular Pathology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 FAU - Parihar, Mayur AU - Parihar M AUID- ORCID: 0000-0002-8059-0914 AD - Department of Cytogenetics and Lab Hematology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 AD - Department of Lab Hematology and Molecular Pathology, Tata Medical Center, Kolkata, India. GRID: grid.430884.3. ISNI: 0000 0004 1770 8996 LA - eng PT - Journal Article DEP - 20210226 PL - India TA - Indian J Hematol Blood Transfus JT - Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion JID - 9425818 PMC - PMC8523604 OTO - NOTNLM OT - BCP-ALL OT - Endoreduplication OT - FISH OT - Flow cytometry based ploidy analysis OT - Hypodiploidy OT - Near haploidy EDAT- 2021/10/26 06:00 MHDA- 2021/10/26 06:01 PMCR- 2022/10/01 CRDT- 2021/10/25 06:19 PHST- 2020/11/27 00:00 [received] PHST- 2021/02/09 00:00 [accepted] PHST- 2021/10/25 06:19 [entrez] PHST- 2021/10/26 06:00 [pubmed] PHST- 2021/10/26 06:01 [medline] PHST- 2022/10/01 00:00 [pmc-release] AID - 1409 [pii] AID - 10.1007/s12288-021-01409-w [doi] PST - ppublish SO - Indian J Hematol Blood Transfus. 2021 Oct;37(4):576-585. doi: 10.1007/s12288-021-01409-w. Epub 2021 Feb 26.