Recent Progress and Challenges in the Diagnosis and Treatment of Gastrointestinal Stromal Tumors

Abstract

Gastrointestinal stromal tumors (GISTs) are the most frequent malignant mesenchymal tumors in the gastrointestinal tract. The clinical incidence of GISTs is estimated 10/million/year; however, the true incidence is complicated by frequent findings of tiny GISTs, of which the natural history is unknown. The initial work-up with endoscopy and endoscopic ultrasonography plays important roles in the differential diagnosis of GISTs. Surgery is the only modality for the permanent cure of localized GISTs. In terms of safety and prognostic outcomes, laparoscopy is similar to laparotomy for GIST treatment, including tumors larger than 5 cm. GIST progression is driven by mutations in KIT or PDGFRA or by other rare gene alterations, all of which are mutually exclusive. Tyrosine kinase inhibitors (TKIs) are the standard therapy for metastatic/recurrent GISTs. Molecular alterations are the most reliable biomarkers for TKIs and for other drugs, such as NTRK inhibitors. The pathological and genetic diagnosis prior to treatment has been challenging; however, a newly developed endoscopic device may be useful for diagnosis. In the era of precision medicine, cancer genome profiling by targeted gene panel analysis may enable potential targeted therapy even for GISTs without KIT or PDGFRA mutations.

A case of jejunal GIST revealed by hematemesis: Unusual situation

“…However, it is hard to differentiate these lesions from other subepithelial tumors by microscopic evaluation, and an immunohistochemistry (IHC) study is necessary for differentiation [20] . These tumors can differentiate from other subepithelial lesions, including leiomyoma, leiomyosarcoma, GI cysts, and lipoma; through IHC by the positiveness of CD117 and KIT negativeness of Desmin and S100 [21] . The present case represents bland-looking spindle-shaped cells with the positiveness of CD117, which confirm the diagnosis of GIST.…”

Franseen Needles May Be Promising for Improving the Sampling Adequacy of EUS-FNA for Subepithelial Lesions

“…Recently, EUS-FNA has been shown to have utility not only for diagnosing lesions but also for genomic characterization to develop molecular profiling to find personalized anti-cancer therapies [ 29 ]. Genomic characterization for GIST is also attracting attention [ 30 , 31 ], but surgical specimens are often used since genomic characterization requires sufficient tissue sampling. The Franseen needle, with a high sampling adequacy rate, may have a role in the potential genomic characterization for GIST.…”

A Case Report of Multiple Gastrointestinal Stromal Tumors: Imaging Findings, Surgical Approach, and Review of the Literature

“…According to the size and the number of lesions, GISTs are categorized into three groups: small GISTs, large GISTs, and metastatic GISTs ( 21 ). In general, small GISTs (<5 cm) are resected with R0 pathology results, without the need for lymphadenectomy, also in consideration of expansive growth and the extremely rare occurrence of nodal metastasis.…”

“…In general, small GISTs (<5 cm) are resected with R0 pathology results, without the need for lymphadenectomy, also in consideration of expansive growth and the extremely rare occurrence of nodal metastasis. Today, the laparoscopic approach can be considered the standard procedure, because it has proved to be less invasive and is characterized by shorter postoperative time of recovery in comparison with conventional laparotomy ( 21 ). Recently, Nishida et al reviewed the literature with the aim of summing up the main guidelines about the treatment of small GISTs, and they observed that there is no global consensus ( 21 ).…”