{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T10:49:54Z","timestamp":1764240594295,"version":"3.41.2"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,11,21]],"date-time":"2022-11-21T00:00:00Z","timestamp":1668988800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Reports"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Aim<\/jats:title><jats:p>Chronic lymphocytic leukemia (CLL) is a monoclonal malignancy of B lymphocytes. Since common mutations in <jats:italic>NOTCH1<\/jats:italic> and <jats:italic>SF3B1<\/jats:italic>, along with other possible chromosomal alterations, change disease severity and survival of patients with CLL, we aimed to evaluate the correlation of common mutations in <jats:italic>NOTCH1<\/jats:italic> and <jats:italic>SF3B1<\/jats:italic> as the poor prognostic markers with chromosomal abnormalities and clinical hematology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>This retrospective study was performed on the peripheral blood of 51 patients diagnosed before chemotherapy with CLL. G\u2010banding karyotype and FISH were performed. For <jats:italic>NOTCH1<\/jats:italic>, exon 34 and for <jats:italic>SF3B1<\/jats:italic>, exons 14,15,16 were assessed using Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The mutation frequency of <jats:italic>NOTCH1<\/jats:italic> and <jats:italic>SF3B1<\/jats:italic> with the pathogenic clinical status was 6:51 (11.76%), and variants obtained from both genes were 9:51 (17.64%). The frequency of <jats:italic>SF3B1<\/jats:italic> mutation (K666E) was higher than in previous studies (<jats:italic>p<\/jats:italic>\u2010value &lt;.05). There was a significant correlation between <jats:italic>NOTCH1<\/jats:italic> mutations and del17p13 (<jats:italic>p<\/jats:italic>\u2010value\u00a0=\u00a0.068), also <jats:italic>SF3B1<\/jats:italic> mutations with del11q22 (<jats:italic>p<\/jats:italic>\u2010value\u00a0=\u00a0.095) and del13q14 (<jats:italic>p<\/jats:italic>\u2010value\u00a0=\u00a0.066). Up to 90% of the specific stimuli used for the G\u2010banding karyotype successfully identified the malignant clone. There was a significant relationship between the cluster of differentiation 38 (CD38) expression level and <jats:italic>NOTCH1<\/jats:italic> mutations (<jats:italic>p<\/jats:italic>\u2010value\u00a0=\u00a0.019) and a significant correlation between Binet classification and the <jats:italic>SF3B1<\/jats:italic> (<jats:italic>p<\/jats:italic>\u2010value\u00a0=\u00a0.096).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The correlation of <jats:italic>NOTCH1<\/jats:italic> and <jats:italic>SF3B1<\/jats:italic> mutations with chromosomal abnormalities and CD38 expression may reveal the overall patient's survival rate. The mutations may be effective in the clonal expansion and progression of CLL, particularly in the diagnosis stage, as well as the control and management of the treatment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cnr2.1757","type":"journal-article","created":{"date-parts":[[2022,11,22]],"date-time":"2022-11-22T05:09:09Z","timestamp":1669093749000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prognostic correlation of <i>NOTCH1<\/i> and <i>SF3B1<\/i> mutations with chromosomal abnormalities in chronic lymphocytic leukemia patients"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3815-0234","authenticated-orcid":false,"given":"Reza","family":"Sadria","sequence":"first","affiliation":[{"name":"Department of Cell &amp; Molecular Biology, School of Biology, College of Science University of Tehran  Tehran Iran"},{"name":"Department of Medical Genetics Payvand Clinical and Specialty Laboratory  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nasrin","family":"Motamed","sequence":"additional","affiliation":[{"name":"Department of Cell &amp; Molecular Biology, School of Biology, College of Science University of Tehran  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Saberi Anvar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Payvand Clinical and Specialty Laboratory  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan","family":"Mehrabani Yeganeh","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences, College of Agriculture and Natural Resources University of Tehran  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Behzad","family":"Poopak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Payvand Clinical and Specialty Laboratory  Tehran Iran"},{"name":"Tehran Medical Sciences Branch Islamic Azad University  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2019.0002"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-09-806398"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)30422-7"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-11392-6_2"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2764"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-11392-6_3"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.04898.x"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-145-6-200609190-00007"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41571-019-0239-8"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510193331606"},{"key":"e_1_2_11_12_1","unstructured":"Cytogenetics FISH and molecular testing in hematologic malignancies [Internet]. Accessed December 23 2019."},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22527"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjhh.2014.07.008"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/435983"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yamp.2018.06.001"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2018.00229"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc.2016.8"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-6703-2_4"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781118412602"},{"key":"e_1_2_11_21_1","unstructured":"ISCN.An international system for human cytogenomic \u2026\u2014Google Scholar [Internet];2020. Accessed February 5 2022."},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/691493"},{"key":"e_1_2_11_23_1","unstructured":"The AGT.Cytogenetics laboratory manual\u2014Google Books [Internet]. Accessed February 5 2022."},{"key":"e_1_2_11_24_1","unstructured":"NCCN.Guidelines Version 4.2021 chronic lymphocytic leukemia\/small lymphocytic lymphoma\u2014Google Search [Internet]. Accessed February 5 2022."},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-07-659144"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.g2215"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2018.4524"},{"issue":"4","key":"e_1_2_11_28_1","first-page":"4016","article-title":"NOTCH1, SF3B1, MDM2 and MYD88 mutations in patients with chronic lymphocytic leukemia","volume":"17","author":"Maleki Y","year":"2019","journal-title":"Oncol Lett"},{"issue":"1","key":"e_1_2_11_29_1","first-page":"1","article-title":"Cytogenetic\/mutation profile of chronic lymphocytic leukemia\/malignant melanoma collision tumors of the skin","volume":"11","author":"La Starza R","year":"2018","journal-title":"Mol Cytogenet [Internet]"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-02-427641"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-05-429282"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv342"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3213"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2019000367"},{"key":"e_1_2_11_35_1","unstructured":"Cytogenetic Abnormalities.Chromosomal FISH and Microarray\u2010Based Clinical \u2026\u2014Susan Mahler Zneimer\u2014Google Books [Internet]. Accessed February 5 2022."},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1998.00891.x"},{"key":"e_1_2_11_37_1","article-title":"Bioinformatics analysis of gene expression profiles in chronic lymphocytic leukemia [internet]","volume":"9","author":"Zhang L","year":"2016","journal-title":"Int J Clin Exp Pathol"}],"container-title":["Cancer Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cnr2.1757","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/cnr2.1757","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cnr2.1757","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T20:14:48Z","timestamp":1692735288000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/cnr2.1757"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,21]]},"references-count":36,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1002\/cnr2.1757"],"URL":"https:\/\/doi.org\/10.1002\/cnr2.1757","archive":["Portico"],"relation":{},"ISSN":["2573-8348","2573-8348"],"issn-type":[{"type":"print","value":"2573-8348"},{"type":"electronic","value":"2573-8348"}],"subject":[],"published":{"date-parts":[[2022,11,21]]},"assertion":[{"value":"2022-08-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1757"}}