{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:18:53Z","timestamp":1763036333685,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:p>Systemic mastocytoses represent neoplastic proliferations of mast cells. In about 20% of cases systemic mastocytoses are accompanied by clonal haematopoietic non-mast cell-lineage disorders, most commonly myeloid neoplasms. A case of systemic mastocytosis carrying the characteristic mutation at codon 816 (D816V) in the <jats:italic>KIT<\/jats:italic> gene of mast cells, with two concurrent accompanying clonal haematopoietic non-mast cell-lineage disorders, chronic myeloproliferative disease, unclassifiable and precursor B lymphoblastic leukaemia is documented. Both accompanying clonal haematopoietic non-mast cell-lineage disorders carried the wild-type <jats:italic>KIT<\/jats:italic> gene, but had a novel t(13;13)(q12;q22) involving the <jats:italic>FLT3<\/jats:italic> locus at 13q12. The chronic myeloproliferative disease, unclassifiable and the precursor B lymphoblastic leukaemia were cured by syngenous stem cell transplantation, but the systemic mastocytosis persisted for more than 10 years. The additional impact of molecular techniques on the correct diagnosis in haematological malignancies is highlighted, and evidence is provided that, apart from internal tandem duplications and mutations, <jats:italic>FLT3<\/jats:italic> can be activated by translocations.<\/jats:p>","DOI":"10.1136\/jcp.2008.058073","type":"journal-article","created":{"date-parts":[[2008,7,28]],"date-time":"2008-07-28T13:29:53Z","timestamp":1217251793000},"page":"958-961","source":"Crossref","is-referenced-by-count":27,"title":["Systemic mastocytosis with associated myeloproliferative disease and precursor B lymphoblastic leukaemia with t(13;13)(q12;q22) involving <i>FLT3<\/i>"],"prefix":"10.1136","volume":"61","author":[{"given":"A","family":"Tzankov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Sotlar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Muhlematter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Theocharides","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Went","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Jotterand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H-P","family":"Horny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Dirnhofer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2008,7,28]]},"reference":[{"key":"2025092612043738000_61.8.958.1","unstructured":"Valent P Horny HP Li CY . Mastocytosis. In: Jaffe E S Harris N L Stein H Vardiman J W , eds. Pathology and genetics of tumours of haematopoietic and lymphoid tissues. Lyon: IARC Press, 2001:293\u00e2\u0080\u0093302."},{"key":"2025092612043738000_61.8.958.2","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2003.014860"},{"key":"2025092612043738000_61.8.958.3","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1998.01072.x"},{"key":"2025092612043738000_61.8.958.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0145-2126(02)00041-3"},{"key":"2025092612043738000_61.8.958.5","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":"2025092612043738000_61.8.958.6","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-11-009605"},{"key":"2025092612043738000_61.8.958.7","first-page":"1128","article-title":"European consensus on grading bone marrow fibrosis and assessment of cellularity.","volume":"90","author":"Thiele","year":"2005","journal-title":"Haematologica"},{"key":"2025092612043738000_61.8.958.8","doi-asserted-by":"publisher","DOI":"10.1532\/IJH97.05090"},{"key":"2025092612043738000_61.8.958.9","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/j.humpath.2005.12.003","article-title":"Myeloproliferative diseases with the recurrent t(8;9)(p23;p24) \u00e2\u0080\u0093 reply.","volume":"37","author":"Tzankov","year":"2006","journal-title":"Hum Pathol"},{"key":"2025092612043738000_61.8.958.10","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404266"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jcp.2008.058073","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T19:04:43Z","timestamp":1758913483000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jcp.2008.058073"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7,28]]},"references-count":10,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2008,7,28]]},"published-print":{"date-parts":[[2008,8]]}},"alternative-id":["10.1136\/jcp.2008.058073"],"URL":"https:\/\/doi.org\/10.1136\/jcp.2008.058073","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"type":"print","value":"0021-9746"},{"type":"electronic","value":"1472-4146"}],"subject":[],"published":{"date-parts":[[2008,7,28]]}}}