TY - JOUR
T1 - Gastrointestinal Stromal Tumors Mimicking Gynecologic Disease
T2 - Clinicopathological Analysis of 20 Cases
AU - Liu, Ying
AU - Shahi, Maryam
AU - Miller, Karin
AU - Meyer, Christian F.
AU - Hung, Chien Fu
AU - Wu, T. C.
AU - Vang, Russell
AU - Xing, Deyin
N1 - Funding Information:
Funding: This study is supported by a Clinician Scientist Award at The Johns Hopkins University School of Medicine (D.X.) and partially supported by the Pilot Project Award by the Cervical Cancer SPORE program at Johns Hopkins (D.X.).
Publisher Copyright:
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2022/7
Y1 - 2022/7
N2 - 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 (unilat-eral 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 immu-noreactive for c-KIT. The tumor cells were also diffusely positive for DOG-1 (10/10, 100%) and dis-played 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 mu-tation, 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 consulta-tion. 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 im-munophenotype, is crucial in leading to a definitive classification.
AB - 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 (unilat-eral 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 immu-noreactive for c-KIT. The tumor cells were also diffusely positive for DOG-1 (10/10, 100%) and dis-played 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 mu-tation, 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 consulta-tion. 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 im-munophenotype, is crucial in leading to a definitive classification.
KW - FGFR3
KW - RB1
KW - c-KIT
KW - gastrointestinal stromal tumor
KW - pelvic mass
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U2 - 10.3390/diagnostics12071563
DO - 10.3390/diagnostics12071563
M3 - Article
C2 - 35885469
AN - SCOPUS:85133365626
SN - 2075-4418
VL - 12
JO - Diagnostics
JF - Diagnostics
IS - 7
M1 - 1563
ER -