PMID- 34380794 OWN - NLM STAT- MEDLINE DCOM- 20210820 LR - 20220425 IS - 0971-5916 (Print) IS - 0975-9174 (Electronic) IS - 0971-5916 (Linking) VI - 153 IP - 4 DP - 2021 Apr TI - Role of cytogenetic abnormalities detected by fluorescence in situ hybridization as a prognostic marker: Pathogenesis & clinical course in patients with B-chronic lymphocytic leukaemia. PG - 475-483 LID - 10.4103/ijmr.IJMR_2257_18 [doi] AB - BACKGROUND & OBJECTIVES: B-cell chronic lymphocytic leukaemia (B-CLL) is one of the most common forms of adult leukaemia, with a highly variable clinical course. Specific chromosomal and genetic aberrations are used clinically to predict prognosis, independent from conventional clinical markers. Molecular cytogenetic methods such as fluorescence in situ hybridization (FISH) detect aberrations in up to 80 per cent B-CLL patients. This study was conducted to score the frequencies of recurrent aberrations, i.e., del(13q14), trisomy 12, del(11q22), del(17p13), del(6q21) and IgH (immunoglobulin heavy chain) translocations and to understand their role in prognostication and risk stratification. METHODS: FISH studies were performed on bone marrow aspirate or peripheral blood of 280 patients using commercially available disease-specific probe set. The data were correlated with clinical and haematological parameters such as low haemoglobin, splenomegaly and lymphadenopathy. RESULTS: Chromosomal aberrations were detected in 79 per cent of patients, with del(13q14) (57%) as the most common cytogenetic aberration, followed by trisomy 12 (27%), del(11q22) (22%), t(14q32) (19%), del(17p13) (18%) and del(6q21) (9%). Single or in coexistence with other aberration del(13q14) had a favourable outcome in comparison to del(11q22), t(14q32), del(17p13) and del(6q21) which were associated with advanced stages of the disease. Trisomy 12 had a variable clinical course. INTERPRETATION & CONCLUSIONS: FISH was found to be a sensitive and efficient technique in detecting the prevalence of recurrent cytogenetic abnormalities. Each of these aberrations is an important independent predictor of disease progression and survival which aids in designing risk-adapted treatment strategies for better disease management. FAU - Shetty, Dhanlaxmi AU - Shetty D AD - Department of Cancer Cytogenetics, Advanced Centre for Training, Research & Education in Cancer, Tata Memorial Centre, Kharghar, Mumbai, Maharashtra, India. FAU - Jain, Hemani AU - Jain H AD - Department of Cancer Cytogenetics, Advanced Centre for Training, Research & Education in Cancer, Tata Memorial Centre, Kharghar, Mumbai, Maharashtra, India. FAU - Rohil, Yogita AU - Rohil Y AD - Department of Cancer Cytogenetics, Advanced Centre for Training, Research & Education in Cancer, Tata Memorial Centre, Kharghar, Mumbai, Maharashtra, India. FAU - Khattry, Navin AU - Khattry N AD - Department of Medical Oncology, Advanced Centre for Training, Research & Education in Cancer, Tata Memorial Centre, Kharghar; Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India. FAU - Sengar, Manju AU - Sengar M AD - Department of Medical Oncology, Tata Memorial Hospital, Tata Memorial Centre, Parel; Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India. FAU - Bagal, Bhausaheb AU - Bagal B AD - Department of Medical Oncology, Tata Memorial Hospital, Tata Memorial Centre, Parel; Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India. FAU - Jain, Hasmukh AU - Jain H AD - Department of Medical Oncology, Tata Memorial Hospital, Tata Memorial Centre, Parel; Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India. FAU - Gokarn, Anant AU - Gokarn A AD - Department of Medical Oncology, Advanced Centre for Training, Research & Education in Cancer, Tata Memorial Centre, Kharghar; Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India. FAU - Punatar, Sachin AU - Punatar S AD - Department of Medical Oncology, Advanced Centre for Training, Research & Education in Cancer, Tata Memorial Centre, Kharghar; Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India. FAU - Avinash Bonda, Venkata Naga AU - Avinash Bonda VN AD - Department of Medical Oncology, Tata Memorial Hospital, Tata Memorial Centre, Parel; Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India. FAU - Subramanian, P G AU - Subramanian PG AD - Department of Hematopathology, Advanced Centre for Training, Research & Education in Cancer, Tata Memorial Centre, Kharghar; Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India. LA - eng PT - Journal Article PL - India TA - Indian J Med Res JT - The Indian journal of medical research JID - 0374701 SB - IM MH - Chromosome Aberrations MH - Cytogenetic Analysis MH - Humans MH - In Situ Hybridization, Fluorescence MH - *Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis/genetics MH - Prognosis PMC - PMC8354055 OTO - NOTNLM OT - B-cell chronic lymphocytic leukaemia OT - chromosomal aberration OT - fluorescence in situ OT - hybridization OT - lactate dehydrogenase OT - prognosis OT - time-to-first treatment OT - treatment-free survival COIS- None EDAT- 2021/08/13 06:00 MHDA- 2021/08/21 06:00 PMCR- 2021/04/01 CRDT- 2021/08/12 05:43 PHST- 2021/08/12 05:43 [entrez] PHST- 2021/08/13 06:00 [pubmed] PHST- 2021/08/21 06:00 [medline] PHST- 2021/04/01 00:00 [pmc-release] AID - IndianJMedRes_2021_153_4_475_322936 [pii] AID - IJMR-153-475 [pii] AID - 10.4103/ijmr.IJMR_2257_18 [doi] PST - ppublish SO - Indian J Med Res. 2021 Apr;153(4):475-483. doi: 10.4103/ijmr.IJMR_2257_18.