{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T04:05:03Z","timestamp":1783915503120,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T00:00:00Z","timestamp":1773964800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T00:00:00Z","timestamp":1773964800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Identification of\n                      <jats:italic>CALR<\/jats:italic>\n                      indels is key in the diagnosis of myeloproliferative neoplasms (MPNs) that are JAK2 or MPL wild\u2010type. Most patients harbor either type 1 (52\u2010bp deletion) or type 2 (5\u2010bp insertion) exon 9 indels, both of which produce a +1 frameshift and loss of the KDEL ER\u2010retention motif. Additional indels have been characterized. However, many still present diagnostic challenges in interpretation, especially when relying on fragment size alone. Our goal was to assess the concordance of detection of rare\n                      <jats:italic>CALR<\/jats:italic>\n                      indels using two available molecular diagnostic assays in the diagnosis of MPN.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We reviewed 6\u2009years of CALR exon 9 testing at our institution, focusing on patients with non\u2010type 1\/type 2 indels (non\u2010standard). Fragment sizing was performed by PCR with capillary electrophoresis (PCR\u2010CE), with a subset reflexed to next\u2010generation sequencing (NGS) for clarification. We assessed reading frame shifts, KDEL motif status, variant allele frequencies (VAFs), and co\u2010occurring mutations where available.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Over a 6\u2010year period, a total of 3474\n                      <jats:italic>CALR<\/jats:italic>\n                      tests were performed, with indels being detected in 125 patients. Forty patients with exon 9\n                      <jats:italic>CALR<\/jats:italic>\n                      indels other than 52\u2009bp\u2010del and 5\u2009bp\u2010ins were identified (40\/125; 32%). Among these, the most frequently detected indel was the 9\u2010bp deletion (19\/125; 15.2%). Parallel NGS reports were available in 11 patients. From these, five showed a discrepant indel size (5\/11\u2009=\u200945%) between PCR\u2010CE and NGS by \u00b11 or \u22122\u2010bp. These discrepancies resulted in novel frameshifts that were originally categorized as in\u2010frame indels by PCR\u2010CE.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>PCR\u2010CE should be used as a screening method, and indels other than 52\u2010bp del or 5\u2010bp ins should prompt reflex NGS testing to determine frame and clonal status. These findings establish an opportunity to standardize molecular testing for CALR testing in patients with suspected MPN.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ijlh.70093","type":"journal-article","created":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T14:36:06Z","timestamp":1774017366000},"page":"807-815","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Concordance Between Fragment Analysis and Next\u2010Generation Sequencing in Identification of Non\u2010Standard\n                    <i>CALR<\/i>\n                    Indels"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5498-7398","authenticated-orcid":false,"given":"Juan Luis Gomez","family":"Marti","sequence":"first","affiliation":[{"name":"Donald and Barbara Zucker School of Medicine at Hofstra\/Northwell  Hempstead New York 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5096-3537","authenticated-orcid":false,"given":"Sylvia","family":"Spitzer","sequence":"additional","affiliation":[{"name":"Donald and Barbara Zucker School of Medicine at Hofstra\/Northwell  Hempstead New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1167-9373","authenticated-orcid":false,"given":"Oana C.","family":"Rosca","sequence":"additional","affiliation":[{"name":"Donald and Barbara Zucker School of Medicine at Hofstra\/Northwell  Hempstead New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4132-4832","authenticated-orcid":false,"given":"Oana","family":"Vele","sequence":"additional","affiliation":[{"name":"Donald and Barbara Zucker School of Medicine at Hofstra\/Northwell  Hempstead New York 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