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Unusual bilateral ovarian metastases from ileal gastrointestinal stromal tumor (GIST): a case report.

ABSTRACT: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract and liver and peritoneum are the main sites of recurrence. Ovarian metastases from GIST are very rare.A 50 years-old woman was found to have a pelvic mass on transvaginal ultrasound (TV-US) and computed tomography (CT)-scan, considered as a right ovarian mass. The patient underwent surgical abdominal exploration that showed an ileal mass, a normal right ovary and an irregular and vascularized surface of the left ovary. A segmental ileal resection and an ileal anastomosis were performed. Frozen section showed a GIST and surgery was completed with hysterectomy, bilateral salpingo-oophorectomy, pelvic peritonectomy, peritoneal washing and Burch procedure. The histological examination confirmed an ileal GIST with ovarian metastases, harboring in both sites of disease a KIT exon 11 deletion.Ovarian localizations, as far as rare, can be a clinical finding in case of ileal GIST patients, and both gynecologists, pathologists and medical oncologists should be able to recognize them.

SUBMITTER: De Leo A

PROVIDER: S-EPMC5857138 | biostudies-other | 2018 Mar

REPOSITORIES: biostudies-other

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Unusual bilateral ovarian metastases from ileal gastrointestinal stromal tumor (GIST): a case report.

De Leo Antonio A Nannini Margherita M Dondi Giulia G Santini Donatella D Urbini Milena M Gruppioni Elisa E De Iaco Pierandrea P Perrone Anna Myriam AM Pantaleo Maria Abbondanza MA

BMC cancer 20180316 1

<h4>Background</h4>Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract and liver and peritoneum are the main sites of recurrence. Ovarian metastases from GIST are very rare.<h4>Case presentation</h4>A 50 years-old woman was found to have a pelvic mass on transvaginal ultrasound (TV-US) and computed tomography (CT)-scan, considered as a right ovarian mass. The patient underwent surgical abdominal exploration that showed an ileal mass, a norm ...[more]

PMID: 29548310

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Project description:BACKGROUND:Gastrointestinal stromal tumor (GIST) is the most common primary mesenchymal neoplasm of the gastrointestinal tract. Mutations of KIT and platelet-derived growth factor receptor alpha have been well characterized in GISTs. Patients with KIT mutations are generally sensitive to treatment with tyrosine kinase inhibitors. However, some patients with GIST, while initially sensitive to TKIs, gain resistance in later stages of treatment. Heterologous rhabdomyomsarcomatous dedifferentiation of advanced GISTs after long-term imatinib mesylate (IM) therapy has been reported. In these cases, the underlying molecular mechanism of tumor progression and transformation is unclear. CASE PRESENTATION:We report one such patient with rhabdomyosarcomatous dedifferentiation of a GIST without metastatic disease after brief 3-month therapy with IM. The tumor was composed of two distinct phenotypes, a CD117 negative region with rhabdomyosarcomatous differentiation directly adjacent to a CD117 positive classic GIST region. Molecular analysis identified the activating KIT exon 11 mutation in both regions, indicating a common origin for both phenotypes. Additionally, the dedifferentiated component contained two synonymous variants in platelet-derived growth factor receptor alpha and KIT. The increased number of synonymous variants in the rhabdomyosarcomatous region may reflect increased genetic instability of this tumor that may have resulted in the loss of CD117 expression in the dedifferentiated component. CONCLUSION:This study adds to the growing consensus that rhabdomyosarcomatous GIST progresses from a common GIST primary tumor. The role of IM in this progression is uncertain; however short duration of IM treatment in this study supports the hypothesis that rhabdomyosarcomatous GIST progression is not a consequence of IM therapy. Furthermore, we provide additional information supporting the observation that CD117 negative rhabdomyosarcomatous transformation maintains the activating KIT variant without KIT expression.

Dataset Information

Unusual bilateral ovarian metastases from ileal gastrointestinal stromal tumor (GIST): a case report.

Publications

Unusual bilateral ovarian metastases from ileal gastrointestinal stromal tumor (GIST): a case report.

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