{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T06:25:32Z","timestamp":1787120732378,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"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":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Systemic mastocytosis (SM) is a rare clonal myeloproliferative neoplasm typically characterized by cutaneous lesions and mediator\u2010release symptoms. Presentations dominated by visceral organ involvement without skin findings are uncommon and pose a significant diagnostic challenge, often mimicking hematologic malignancies. We report a 50\u2010year\u2010old male presenting with generalized weakness, fatigue, and progressive abdominal distension. Examination revealed significant hepatosplenomegaly with no cutaneous manifestations. Investigations demonstrated severe leukocytosis (peak WBC 112.8\u2009\u00d7\u200910\n                    <jats:sup>3<\/jats:sup>\n                    \/\u03bcL) with a leucoerythroblastic picture, persistently elevated alkaline phosphatase, and anemia. Initial bone marrow morphology suggested chronic myeloid leukemia (CML), showing marked hypercellularity (95\u2013100%) and granulocytic hyperplasia (M:E ratio 32:1). Cytogenetics revealed a normal male karyotype (46, XY), and BCR\u2010ABL1 testing was negative, excluding CML. Comprehensive molecular profiling identified a pathogenic KIT p.D816V mutation, confirming systemic mastocytosis with an associated hematologic neoplasm (SM\u2010AHN). The patient was treated with cladribine (40\u2009mg over five days) followed by maintenance hydroxyurea (300\u2009mg twice daily), with significant clinical improvement at eight\u2010week follow\u2010up. This case underscores that SM\u2010AHN can present with isolated hepatosplenomegaly and profound leukocytosis without cutaneous signs, and highlights the critical role of integrated molecular profiling, including KIT mutation analysis, in the diagnostic workup of atypical hematologic presentations.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.72960","type":"journal-article","created":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T12:24:27Z","timestamp":1782476667000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hidden in Plain Sight: Systemic Mastocytosis Manifesting as Isolated Hepatosplenomegaly in the Absence of Cutaneous and Classical Manifestations\u2014A Case Report and Literature Review"],"prefix":"10.1002","volume":"14","author":[{"given":"Muhammad","family":"Sadam Zeb","sequence":"first","affiliation":[{"name":"Khyber Medical College  Peshawar KPK Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3557-5428","authenticated-orcid":false,"given":"Ubaid Ullah","family":"Mian","sequence":"additional","affiliation":[{"name":"Khyber Medical College  Peshawar KPK Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kashif","family":"Khan","sequence":"additional","affiliation":[{"name":"Khyber Medical College  Peshawar KPK Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiman","family":"Gulalay","sequence":"additional","affiliation":[{"name":"Khyber Medical College  Peshawar KPK Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alishba","family":"Hameed","sequence":"additional","affiliation":[{"name":"Khyber Medical College  Peshawar KPK Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyan","family":"Malook","sequence":"additional","affiliation":[{"name":"Khyber Medical College  Peshawar KPK Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Essam","family":"Saeed","sequence":"additional","affiliation":[{"name":"Khyber Medical College  Peshawar KPK Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6486-3093","authenticated-orcid":false,"given":"Suleman","family":"Khan","sequence":"additional","affiliation":[{"name":"Khyber Medical College  Peshawar KPK Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Mujtaba","sequence":"additional","affiliation":[{"name":"Quality Control Coordinator, Department of Research Naseer Teaching Hospital  Peshawar KPK Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-8208-0689","authenticated-orcid":false,"given":"Kamil Ahmad","family":"Kamil","sequence":"additional","affiliation":[{"name":"Internal Medicine Department Nasrat Bashir Curative Hospital  Kandahar Afghanistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,26]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-025-00611-8"},{"issue":"11","key":"e_1_2_12_3_1","first-page":"3047","article-title":"Cutaneous and Systemic Manifestations of Mastocytosis","volume":"59","author":"Alto W. 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