{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,15]],"date-time":"2026-08-15T03:09:36Z","timestamp":1786763376316,"version":"build-2736575974"},"reference-count":32,"publisher":"Scientific Scholar","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:sec>\n            <jats:title>Background &amp; objectives:<\/jats:title>\n            <jats:p>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 <jats:italic toggle=\"yes\">in situ<\/jats:italic> hybridization (FISH) detect aberrations in up to 80 per cent B-CLL patients. This study was conducted to score the frequencies of recurrent aberrations, <jats:italic toggle=\"yes\">i.e.<\/jats:italic>, del(13q14), trisomy 12, del(11q22), del(17p13), del(6q21) and <jats:italic toggle=\"yes\">IgH<\/jats:italic> (immunoglobulin heavy chain) translocations and to understand their role in prognostication and risk stratification.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Interpretation &amp; conclusions:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>","DOI":"10.4103\/ijmr.ijmr_2257_18","type":"journal-article","created":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T06:31:51Z","timestamp":1638772311000},"page":"475-483","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Role of cytogenetic abnormalities detected by fluorescence in situ hybridization as a prognostic marker"],"prefix":"10.25259","volume":"153","author":[{"given":"Dhanlaxmi","family":"Shetty","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hemani","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yogita","family":"Rohil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Navin","family":"Khattry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manju","family":"Sengar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhausaheb","family":"Bagal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasmukh","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anant","family":"Gokarn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachin","family":"Punatar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venkata Naga","family":"Avinash Bonda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.G.","family":"Subramanian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","reference":[{"key":"R1-12-20241212","doi-asserted-by":"crossref","first-page":"388","DOI":"10.4065\/79.3.388","article-title":"Current approach to diagnosis and management of chronic lymphocytic leukaemia","volume":"79","author":"Shanafelt","year":"2004","journal-title":"Mayo Clin Proc"},{"key":"R2-12-20241212","doi-asserted-by":"crossref","first-page":"2351","DOI":"10.3109\/10428194.2013.783913","article-title":"Prognostic markers and their clinical applicability in chronic lymphocytic leukaemia: Where do we stand?","volume":"54","author":"Rosenquist","year":"2013","journal-title":"Leuk Lymphoma"},{"key":"R3-12-20241212","first-page":"42","article-title":"Chronic lymphocytic leukaemia: Staging and prognostic factors","volume":"25","author":"Zwiebel","year":"1998","journal-title":"Semin Oncol"},{"key":"R4-12-20241212","doi-asserted-by":"crossref","first-page":"931","DOI":"10.3324\/haematol.2017.186684","article-title":"Morphological, immunophenotypic, and genetic features of chronic lymphocytic leukaemia with trisomy 12: A comprehensive review","volume":"103","author":"Autore","year":"2018","journal-title":"Haematologica"},{"key":"R5-12-20241212","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1056\/NEJM199009133231105","article-title":"Prognostic subgroups in B-cell chronic lymphocytic leukaemia defined by specific chromosomal abnormalities","volume":"323","author":"Juliusson","year":"1990","journal-title":"N Engl J Med"},{"key":"R6-12-20241212","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2014\/435983","article-title":"Genetic abnormalities in chronic lymphocytic leukaemia: Where we are and where we go","volume":"2014","author":"Puiggros","year":"2014","journal-title":"Biomed Res Int"},{"key":"R7-12-20241212","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1309\/H9AREV6E2JTMEC6J","article-title":"Cytogenetic abnormalities detected by fluorescence in situ hybridization on paraffin-embedded chronic lymphocytic leukaemia\/small lymphocytic lymphoma lymphoid tissue biopsy specimens","volume":"130","author":"Flanagan","year":"2008","journal-title":"Am J Clin Pathol"},{"key":"R8-12-20241212","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/cyto.b.20390","article-title":"Impact of trisomy 12, del(13q), del(17p), and del(11q) on the immunophenotype, DNA ploidy status, and proliferative rate of leukemic B-cells in chronic lymphocytic leukaemia","volume":"74","author":"Quijano","year":"2008","journal-title":"Cytometry B Clin Cytom"},{"key":"R9-12-20241212","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.cancergencyto.2008.08.019","article-title":"Prognostic impact of chromosome alterations detected by FISH in Turkish patients with B-cell chronic lymphocytic leukaemia","volume":"188","author":"Durak","year":"2009","journal-title":"Cancer Genet Cytogenet"},{"key":"R10-12-20241212","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.cancergencyto.2006.07.006","article-title":"Genetic abnormalities and clinical outcome in chronic lymphocytic leukaemia","volume":"171","author":"Ripoll\u00e9s","year":"2006","journal-title":"Cancer Genet Cytogenet"},{"key":"R11-12-20241212","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/S0165-4608(03)00136-5","article-title":"Interphase cytogenetic analysis in Argentinean B-cell chronic lymphocytic leukaemia patients: Association of trisomy 12 and del(13q14)","volume":"146","author":"Chena","year":"2003","journal-title":"Cancer Genet Cytogenet"},{"key":"R12-12-20241212","doi-asserted-by":"crossref","first-page":"261","DOI":"10.4103\/0019-509X.118730","article-title":"Clinico-pathological impact of cytogenetic subgroups in B-cell chronic lymphocytic leukaemia: Experience from India","volume":"50","author":"Amare","year":"2013","journal-title":"Indian J Cancer"},{"key":"R13-12-20241212","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1182\/blood-2017-09-806398","article-title":"iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL","volume":"131","author":"Hallek","year":"2018","journal-title":"Blood"},{"key":"R14-12-20241212","doi-asserted-by":"crossref","first-page":"47","DOI":"10.5858\/arpa.2010-0645-SA","article-title":"Validation of fluorescence in situ hybridization using an analyte-specific reagent for detection of abnormalities involving the mixed lineage leukaemia gene","volume":"136","author":"Saxe","year":"2012","journal-title":"Arch Pathol Lab Med"},{"key":"R15-12-20241212","first-page":"50203","article-title":"Chromosome preparation from cultured cells","volume":"83","author":"Howe","year":"2014","journal-title":"J Vis Exp"},{"key":"R17-12-20241212","doi-asserted-by":"crossref","first-page":"5574","DOI":"10.1182\/blood.V128.22.5574.5574","article-title":"CLL in India may have a different biology from that in the West","volume":"128","author":"Saxena","year":"2016","journal-title":"Blood"},{"key":"R18-12-20241212","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1038\/leu.2010.288","article-title":"13q deletion anatomy and disease progression in patients with chronic lymphocytic leukaemia","volume":"25","author":"Parker","year":"2011","journal-title":"Leukaemia"},{"key":"R19-12-20241212","doi-asserted-by":"crossref","first-page":"15524","DOI":"10.1073\/pnas.242606799","article-title":"Frequent deletions and down-regulation of micro- RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukaemia","volume":"99","author":"Calin","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R20-12-20241212","first-page":"212","article-title":"Evaluation of trisomy 12 by fluorescence in situ hybridization in peripheral blood, bone marrow and lymph nodes of patients with B-cell chronic lymphocytic leukaemia","volume":"84","author":"Liso","year":"1999","journal-title":"Haematologica"},{"key":"R21-12-20241212","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1182\/blood.V85.6.1580.bloodjournal8561580","article-title":"p53 gene deletion predicts for poor survival and non-response to therapy with purine analogs in chronic B-cell leukaemias","volume":"85","author":"D\u00f6hner","year":"1995","journal-title":"Blood"},{"key":"R22-12-20241212","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1038\/sj.leu.2400819","article-title":"Deletions at 11q identify a subset of patients with typical CLL who show consistent disease progression and reduced survival","volume":"11","author":"Neilson","year":"1997","journal-title":"Leukaemia"},{"key":"R23-12-20241212","doi-asserted-by":"crossref","first-page":"2516","DOI":"10.1182\/blood.V89.7.2516","article-title":"11q deletions identify a new subset of B-cell chronic lymphocytic leukaemia characterized by extensive nodal involvement and inferior prognosis","volume":"89","author":"D\u00f6hner","year":"1997","journal-title":"Blood"},{"key":"R24-12-20241212","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1111\/j.1365-2141.2011.09000.x","article-title":"Chronic lymphocytic leukaemia with 17p deletion: A retrospective analysis of prognostic factors and therapy results","volume":"157","author":"Delgado","year":"2012","journal-title":"Br J Haematol"},{"key":"R25-12-20241212","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1038\/sj.leu.2403242","article-title":"Chronic lymphocytic leukaemia with 6q- shows distinct haematological features and intermediate prognosis","volume":"18","author":"Cuneo","year":"2004","journal-title":"Leukaemia"},{"key":"R26-12-20241212","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1038\/sj.leu.2401499","article-title":"Incidence and clinical significance of 6q deletions in B cell chronic lymphocytic leukaemia","volume":"13","author":"Stilgenbauer","year":"1999","journal-title":"Leukaemia"},{"key":"R27-12-20241212","doi-asserted-by":"crossref","first-page":"4783","DOI":"10.1182\/blood-2012-04-423517","article-title":"High-resolution genomic profiling of chronic lymphocytic leukaemia reveals new recurrent genomic alterations","volume":"120","author":"Edelmann","year":"2012","journal-title":"Blood"},{"key":"R28-12-20241212","doi-asserted-by":"crossref","first-page":"682","DOI":"10.3892\/mco.2016.793","article-title":"Immunoglobulin gene translocations in chronic lymphocytic leukaemia: A report of 35 patients and review of the literature","volume":"4","author":"DE Braekeleer","year":"2016","journal-title":"Mol Clin Oncol"},{"key":"R29-12-20241212","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1038\/leu.2009.44","article-title":"Translocation t(14;18) is not associated with inferior outcome in chronic lymphocytic leukaemia","volume":"23","author":"Put","year":"2009","journal-title":"Leukaemia"},{"key":"R30-12-20241212","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1111\/bjh.13498","article-title":"Controversial fluorescence in situ hybridization cytogenetic abnormalities in chronic lymphocytic leukaemia: New insights from a large cohort","volume":"170","author":"Davids","year":"2015","journal-title":"Br J Haematol"},{"key":"R31-12-20241212","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/(SICI)1098-2264(199810)23:2<175::AID-GCC11>3.0.CO;2-N","article-title":"Detection of t(11;14) using interphase molecular cytogenetics in mantle cell lymphoma and atypical chronic lymphocytic leukaemia","volume":"23","author":"Avet-Loiseau","year":"1998","journal-title":"Genes Chromosomes Cancer"},{"key":"R32-12-20241212","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1309\/AJCPOEFP3SLX6HXJ","article-title":"Chronic lymphocytic leukaemia with t(14;19)(q32;q13) is characterized by atypical morphologic and immunophenotypic features and distinctive genetic features","volume":"135","author":"Huh","year":"2011","journal-title":"Am J Clin Pathol"},{"key":"R33-12-20241212","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1111\/j.1365-2141.2009.07982.x","article-title":"A comprehensive evaluation of the prognostic significance of 13q deletions in patients with b-chronic lymphocytic leukaemia","volume":"148","author":"Dyke","year":"2010","journal-title":"Br J Haematol"}],"container-title":["Indian Journal of Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.4103\/ijmr.IJMR_2257_18","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T23:03:50Z","timestamp":1751497430000},"score":1,"resource":{"primary":{"URL":"https:\/\/ijmr.org.in\/role-of-cytogenetic-abnormalities-detected-by-fluorescence-in-situ-hybridization-as-a-prognostic-marker-pathogenesis-clinical-course-in-patients-with-b-chronic-lymphocytic-leukaemia\/"}},"subtitle":["Pathogenesis &amp; clinical course in patients with B-chronic lymphocytic leukaemia"],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.4103\/ijmr.ijmr_2257_18","relation":{},"ISSN":["0971-5916"],"issn-type":[{"value":"0971-5916","type":"print"}],"subject":[],"published":{"date-parts":[[2021,4]]}}}