Gastrointestinal Stromal Tumors Mimicking Gynecologic Disease: Clinicopathological Analysis of 20 Cases
Open Access
- 27 June 2022
- journal article
- research article
- Published by MDPI AG in Diagnostics
- Vol. 12 (7), 1563
- https://doi.org/10.3390/diagnostics12071563
Abstract
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.Funding Information
- Clinician Scientist Award at The Johns Hopkins University School of Medicine (D.X.); Pilot Project Award by the Cervical Cancer SPORE program at Johns Hopkins (n/a)
This publication has 41 references indexed in Scilit:
- Crosstalk between KIT and FGFR3 Promotes Gastrointestinal Stromal Tumor Cell Growth and Drug ResistanceCancer Research, 2015
- Perivascular Epithelioid Cell Neoplasm (PEComa) of the Gynecologic TractThe American Journal of Surgical Pathology, 2014
- Spectrum of KIT/PDGFRA/BRAF mutations and Phosphatidylinositol-3-Kinase pathway gene alterations in gastrointestinal stromal tumors (GIST)Cancer Letters, 2011
- Natural History of Imatinib-naive GISTsThe American Journal of Surgical Pathology, 2011
- Frequencies of KIT and PDGFRA mutations in the MolecGIST prospective population-based study differ from those of advanced GISTsMedical Oncology, 2011
- DOG1 and CD117 are the antibodies of choice in the diagnosis of gastrointestinal stromal tumoursHistopathology, 2010
- Extragastrointestinal Stromal Tumors Presenting as Vulvovaginal/Rectovaginal Septal MassesInternational Journal of Gynecological Pathology, 2006
- PDGFRA Mutations in Gastrointestinal Stromal Tumors: Frequency, Spectrum and In Vitro Sensitivity to ImatinibJournal of Clinical Oncology, 2005
- Gastrointestinal Stromal Tumors Metastatic to the OvaryThe American Journal of Surgical Pathology, 2005
- Gastrointestinal stromal tumors: The incidence, prevalence, clinical course, and prognostication in the preimatinib mesylate eraCancer, 2005