{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:10:21Z","timestamp":1756379421902,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,3,20]]},"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:p>A patient with a diagnosis of myelodysplastic syndrome (MDS) with isolated 5q deletion underwent repeat bone marrow biopsy to assess haematological response after 6 months of initial lenalidomide therapy. Subsequent bone marrow biopsies revealed persistent MDS with del(5q) in addition to a small atypical mast cell population with &gt;25% of mast cells with spindle-shaped morphology and immunohistochemistry characteristics consistent with mastocytosis. Molecular testing on the bone marrow was positive for <jats:italic>cKIT<\/jats:italic> D816V and the patient was diagnosed with systemic mastocytosis (SM) with an associated haematological neoplasm. MDS with SM is well known to be associated; however, to the best of our knowledge, only one prior case report identifies MDS with del(5q) and associated <jats:italic>cKIT<\/jats:italic> D816V positive mastocytosis. While the exact clonal origin of both chromosomal aberrations is unclear, this case illustrates the therapeutic efficacy of lenalidomide in a patient with MDS with del(5q) and rarely associated <jats:italic>cKIT<\/jats:italic> positive SM.<\/jats:p>","DOI":"10.1136\/bcr-2018-227768","type":"journal-article","created":{"date-parts":[[2019,4,20]],"date-time":"2019-04-20T12:15:12Z","timestamp":1555762512000},"page":"e227768","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["MDS with 5q deletion and rare <i>cKIT<\/i> positive mastocytosis: a diagnostic and therapeutic challenge"],"prefix":"10.1136","volume":"12","author":[{"given":"Daniel Steven","family":"Sanders","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, McLaren-Oakland Hospital, Pontiac, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Fennell","sequence":"additional","affiliation":[{"name":"Department of Pathology, Oakland University William Beaumont Hospital, Royal Oak, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2676-9577","authenticated-orcid":false,"given":"Mohammad Muhsin","family":"Chisti","sequence":"additional","affiliation":[{"name":"Department of Hematology and Medical Oncology, Oakland University William Beaumont School of Medicine, Royal Oak, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,4,20]]},"reference":[{"key":"2025082803393202000_12.4.e227768.1","unstructured":"Horny HP , Akin C , Arber D , et al . Mastocytosis. In: Swerdlow SH , Campo E , Harris NL , et al , (eds). World Health Organization (WHO) Classification of Tumours. Pathology & Genetics. Tumours of Haematopoietic and Lymphoid Tissues. 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