{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T18:07:51Z","timestamp":1775153271332,"version":"3.50.1"},"reference-count":41,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,6,27]],"date-time":"2022-06-27T00:00:00Z","timestamp":1656288000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Clinician Scientist Award at The Johns Hopkins University School of Medicine"},{"name":"Pilot Project Award by the Cervical Cancer SPORE program"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Diagnosis of pelvic gastrointestinal stromal tumors (GISTs) can be challenging because of their nonspecific presentation and similarity to gynecological neoplasms. In this series, we describe the clinicopathological features of 20 GIST cases: 18 patients presented with pelvic mass and\/or abdominal pain concerning gynecological disease; 2 patients presented with a posterior rectovaginal mass or an anorectal mass. Total abdominal hysterectomy and\/or salpingo-oophorectomy (unilateral or bilateral) were performed in 13 cases. Gross and histological examination revealed that the ovary\/ovaries were involved in three cases, the uterus in two cases, the vagina in two cases and the broad ligament in one case. Immunohistochemically, all tumors (20\/20, 100%) were diffusely immunoreactive for c-KIT. The tumor cells were also diffusely positive for DOG-1 (10\/10, 100%) and displayed focal to diffuse positivity for CD34 (11\/12, 92%). Desmin was focally and weakly expressed in 1 of the 14 tested tumors (1\/14, 7%), whereas 2 of 8 tumors (2\/8, 25%) showed focal SMA positivity. At the molecular level, 7 of 8 (87.5%) GISTs with molecular analysis contained c-KIT mutations with the second and third c-KIT mutations detected in some recurrent tumors. In addition to c-KIT mutation, a pathogenic RB1 mutation was detected in two cases. We extensively discussed these cases focusing on their differential diagnosis described by the submitting pathologists during consultation. Our study emphasizes the importance of precision diagnosis of GISTs. Alertness to this entity in unusual locations, in combination with clinical history, morphological features as well as immunophenotype, is crucial in leading to a definitive classification.<\/jats:p>","DOI":"10.3390\/diagnostics12071563","type":"journal-article","created":{"date-parts":[[2022,6,27]],"date-time":"2022-06-27T22:31:14Z","timestamp":1656369074000},"page":"1563","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Gastrointestinal Stromal Tumors Mimicking Gynecologic Disease: Clinicopathological Analysis of 20 Cases"],"prefix":"10.3390","volume":"12","author":[{"given":"Ying","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Shahi","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"},{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55901, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian F.","family":"Meyer","sequence":"additional","affiliation":[{"name":"Department of Oncology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chien-Fu","family":"Hung","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"},{"name":"Department of Oncology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"},{"name":"Department of Gynecology and Obstetrics, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.-C.","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"},{"name":"Department of Oncology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"},{"name":"Department of Gynecology and Obstetrics, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Russell","family":"Vang","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"},{"name":"Department of Gynecology and Obstetrics, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deyin","family":"Xing","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"},{"name":"Department of Oncology, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"},{"name":"Department of Gynecology and Obstetrics, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.canep.2015.10.031","article-title":"Global epidemiology of gastrointestinal stromal tumours (GIST): A systematic review of population-based cohort studies","volume":"40","author":"Sandvik","year":"2016","journal-title":"Cancer Epidemiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1002\/cncr.20862","article-title":"Gastrointestinal stromal tumors: The incidence, prevalence, clinical course, and prognostication in the preimatinib mesylate era--a population-based study in western Sweden","volume":"103","author":"Nilsson","year":"2005","journal-title":"Cancer"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1646","DOI":"10.1097\/PAS.0b013e31822d63a7","article-title":"Natural history of imatinib-naive GISTs: A retrospective analysis of 929 cases with long-term follow-up and development of a survival nomogram based on mitotic index and size as continuous variables","volume":"35","author":"Rossi","year":"2011","journal-title":"Am. 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