{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T06:38:31Z","timestamp":1771828711604,"version":"3.50.1"},"reference-count":13,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T00:00:00Z","timestamp":1757462400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Differentiating between the repertoire of immunoglobulin rearrangements is important in guiding diagnoses and management of B-cell lymphoma processes. A subset of these disease entities, such as chronic lymphocytic leukemia (CLL) and mantle cell lymphoma (MCL), can show distinct genomic profiles with a shared cell of origin. In this report, we describe a rare case in which differentiating between the immunoglobulin family of rearrangements (IGH, IGK, IGL) with optical genome mapping (OGM) helped revise the clinical suspicion of CLL.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We present a 50-year-old woman with a lymphoproliferative disorder. Her clinical laboratory genetics workup included chromosomal banding analysis, fluorescence in situ hybridization, next-generation sequencing, and OGM. Optical genome mapping was performed on the bone marrow specimen, starting with the ultra-high molecular weight DNA mapped on the Saphyr system. Structural variants with OGM were detected using rare variant analysis set to default parameters.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In 2021, flow cytometry performed on the peripheral blood detected a monotypic CD5+\/CD23+ B-cell population. A subsequent bone marrow in 2024 detected similar findings by flow with \u03ba light chain restriction. Chromosomal banding analysis found a translocation between the long arms of chromosomes 11 and 22. Optical genome mapping demonstrated that this translocation involved the CCND1 locus juxtaposed to the regulatory immunoglobulin \u03bb (IGL) gene cluster.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We present a case of CD5+\/CD10\u2013 small B-cell lymphoma that immunophenotypically resembled CLL but showed positive immunostaining for cyclin D1. The combination of the clinicopathologic findings and the CCND1 translocation involving IGL, detected by OGM, supported a revised diagnosis of MCL.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ajcp\/aqaf096","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T11:22:17Z","timestamp":1755516137000},"page":"639-643","source":"Crossref","is-referenced-by-count":3,"title":["<i>IGL<\/i>\n                    ::\n                    <i>CCND1<\/i>\n                    detected by optical genome mapping revises diagnosis of a B-cell lymphoma"],"prefix":"10.1093","volume":"164","author":[{"given":"Soma R","family":"Chakraborty","sequence":"first","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle A","family":"Bickford","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology (CGAT)\u2014Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Narcisa A","family":"Smuliac","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology (CGAT)\u2014Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyle A","family":"Tonseth","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology (CGAT)\u2014Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farzana","family":"Murad","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology (CGAT)\u2014Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Bao","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology (CGAT)\u2014Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Devon N","family":"Wilson","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology (CGAT)\u2014Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather B","family":"Steinmetz","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology (CGAT)\u2014Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren M","family":"Wainman","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology (CGAT)\u2014Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liam L","family":"Donnely","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]},{"name":"Laboratory for Clinical Genomics and Advanced Technology (CGAT)\u2014Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]},{"name":"Geisel School of Medicine at Dartmouth , Hanover, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swaroopa","family":"PonnamReddy","sequence":"additional","affiliation":[{"name":"Department of Hematology\/Oncology, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]},{"name":"Geisel School of Medicine at Dartmouth , Hanover, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremiah X","family":"Karrs","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]},{"name":"Laboratory for Clinical Genomics and Advanced Technology (CGAT)\u2014Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]},{"name":"Geisel School of Medicine at Dartmouth , Hanover, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prabhjot","family":"Kaur","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center , Lebanon, NH ,","place":["United States"]},{"name":"Geisel School of Medicine at Dartmouth , Hanover, NH ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7785-2899","authenticated-orcid":false,"given":"Wahab A","family":"Khan","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology (CGAT)\u2014Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock 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