{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:20:29Z","timestamp":1763036429616,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:p>A case of systemic mastocytosis associated with a clonal haematological non-mast cell lineage disease (SM-AHNMD), where the associated disease is acute erythroid leukaemia (erythroid\/myeloid type), is reported. Interestingly, molecular studies showed the KIT<jats:sup>D816V+<\/jats:sup> mutation not only in the mast cells, but also in the myeloid blast population and the leukaemic erythroid cells. As is the case with most erythroid leukaemias, the patient had a very aggressive clinical course and died shortly after diagnosis. It is believed that this is the first reported case of systemic mastocytosis with erythroid leukaemia where the KIT<jats:sup>D816V+<\/jats:sup> mutation was detected in all three cell types. Molecular findings provide evidence for derivation of these seemingly morphologically distinct lesions from the same clonal precursor cell. From a practice standpoint, this case illustrates the importance of definitively diagnosing the associated non-mast cell lineage disease due to its prognostic implications.<\/jats:p>","DOI":"10.1136\/jcp.2009.067876","type":"journal-article","created":{"date-parts":[[2009,9,3]],"date-time":"2009-09-03T20:17:46Z","timestamp":1252009066000},"page":"1147-1149","source":"Crossref","is-referenced-by-count":12,"title":["KIT<sup>D816V+<\/sup> systemic mastocytosis associated with KIT<sup>D816V+<\/sup> acute erythroid leukaemia: first case report with molecular evidence for same progenitor cell derivation"],"prefix":"10.1136","volume":"62","author":[{"given":"S A","family":"McClintock-Treep","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H-P","family":"Horny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Sotlar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M K","family":"Foucar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K K","family":"Reichard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2009,9,2]]},"reference":[{"key":"2025092509511695000_62.12.1147.1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2008.070061"},{"key":"2025092509511695000_62.12.1147.2","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/S0002-9440(10)63870-9","article-title":"One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes.","volume":"162","author":"Sotlar","year":"2003","journal-title":"Am J Pathol"},{"key":"2025092509511695000_62.12.1147.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2008.09.027"},{"key":"2025092509511695000_62.12.1147.4","unstructured":"Horny H-P Metcalfe DD Bennett JM . Mastocytosis. In: Tumours of haematopoietic and lymphoid tissues (WHO). Lyon, France: IARC Press, 2008:54\u00e2\u0080\u009363."},{"key":"2025092509511695000_62.12.1147.5","doi-asserted-by":"crossref","first-page":"473","DOI":"10.3109\/10428190009058500","article-title":"Clinical and biologic diversity of leukemias occurring in patients with mastocytosis.","volume":"37","author":"Sperr","year":"2000","journal-title":"Leuk Lymphoma"},{"key":"2025092509511695000_62.12.1147.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2007.10.017"},{"key":"2025092509511695000_62.12.1147.7","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2005.026989"},{"key":"2025092509511695000_62.12.1147.8","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2008.058073"},{"key":"2025092509511695000_62.12.1147.9","first-page":"1115","article-title":"Juxtamembrane mutant V560GKit is more sensitive to imatinib (STI571) compared with wild-type c-KIT whereas the kinase domain mutant D816V Kit is resistant.","volume":"1","author":"Frost","year":"2002","journal-title":"Mol Cancer Ther"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jcp.2009.067876","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T16:51:24Z","timestamp":1758819084000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jcp.2009.067876"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9,2]]},"references-count":9,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2009,11,27]]},"published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1136\/jcp.2009.067876"],"URL":"https:\/\/doi.org\/10.1136\/jcp.2009.067876","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"type":"print","value":"0021-9746"},{"type":"electronic","value":"1472-4146"}],"subject":[],"published":{"date-parts":[[2009,9,2]]}}}