Dataset Information

A concealed inguinal presentation of a gastrointestinal stromal tumor (GIST): a case report and literature review.

ABSTRACT:

Background

Gastrointestinal stromal tumor (GIST) can arise anyplace along the gastrointestinal (GI) tract. The uncommon tumor location in groin area is rarely reported.

Case presentation

We herein reported a metastasized case presented as GI hemorrhage complicated with indirect hernia, and underwent tumor cytoreduction, herniorrhaphy and chemotherapy for jejunal GIST. The case was described consecutively based on the process of surgical management, with a good follow-up result. A literature review by searching similar case reports from two national medical databases was performed to summarize clinical features of such unusual presentation of GIST, which included hernia characteristics, short- and long-term outcomes of this disease. It showed GIST presenting as groin hernia was rarely reported and all available 11 cases suggested a primary tumor and required both tumor resection and hernia repair. The long-term results indicated 64.3% overall survival at 5 years after the incidental diagnosis.

Conclusions

Inguinal hernia is an extremely rare presentation of GIST, with limited case reports available in the literature. A radical involving tumor resection plus hernia repair is an optimal surgical approach for such uncommon condition. An adjuvant medication mounting on mutated KIT gene should be strictly followed for high risk cases.

SUBMITTER: Yuan Y

PROVIDER: S-EPMC7931599 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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Publications

A concealed inguinal presentation of a gastrointestinal stromal tumor (GIST): a case report and literature review.

Yuan Yujie Y Ding Li L Tan Min M Han An-Jia AJ Zhang Xinhua X

BMC surgery 20210303 1

<h4>Background</h4>Gastrointestinal stromal tumor (GIST) can arise anyplace along the gastrointestinal (GI) tract. The uncommon tumor location in groin area is rarely reported.<h4>Case presentation</h4>We herein reported a metastasized case presented as GI hemorrhage complicated with indirect hernia, and underwent tumor cytoreduction, herniorrhaphy and chemotherapy for jejunal GIST. The case was described consecutively based on the process of surgical management, with a good follow-up result. A ...[more]

PMID: 33658035

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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.

Project description:Splenosis pertains to the phenomenon wherein a segment of the spleen undergoes detachment and becomes embedded in other anatomical regions subsequent to traumatic rupture or therapeutic resection, and then progressively establishing blood circulation to foster the regeneration of splenic tissue. Existing literature posits that splenosis predominantly manifests within the confines of the abdominal and pelvic cavities. The objective of the current study was to present an uncommon case involving the occurrence of splenosis within the gastric myometrium, thereby contributing to the current knowledge regarding splenosis. A 16-year-old female sought medical assistance owing to recurrent abdominal pain persisting for a duration of six months, and had a history of splenectomy two years prior. Gastroscopy, endoscopic ultrasound and computed tomography (CT) examination collectively identified a lesion in the submucosal prominence of the fundus of the stomach. Initial considerations based on imaging examinations leaned towards a gastrointestinal stromal tumor. Consequently, an endoscopic resection was undertaken. Remarkably, the pathological findings and histochemistry concurred with the alterations associated with ectopic spleen implantation, leading to a stable postoperative course. In conclusion, splenosis denotes the implantation of a segment of the spleen into extraneous anatomical sites, attributable to traumatic rupture or therapeutic resection. The preoperative diagnosis of splenosis can pose a challenge, potentially culminating in unnecessary radical clinical interventions. Therefore, the acquisition of a comprehensive medical history, with a particular focus on surgical and trauma events, emerges as pivotal for an accurate diagnosis. In light of novel diagnostic modalities, the non-invasive technology of nuclear medicine can efficaciously visualize ectopic splenic tissue, thereby averting superfluous surgical procedures. It is both feasible and imperative to implement individualized treatment strategies for patients afflicted with splenosis.

Project description:BackgroundMost of gastrointestinal stromal tumors (GISTs) are driven by mutations in the KIT/PDGFRA genes and can benefit from TKIs treatment. However, a small subset of GIST (10%-15%) are called "wild-type" GISTs due to the lack of these mutations. Theoretically, they would not benefit from TKIs treatment and may even develop resistance. Therefore, this unexpected response may challenge inherent perceptions. Herein, we present a case of giant wild-type GIST exhibiting an unexpected response to imatinib(IM), followed by laparoscopic surgical resection. Subsequently, potential underlying mechanisms are discussed.Case descriptionThis case describes a 57-year-old man who presented with abdominal pain for two weeks. CT revealed a massive lesion near the splenic hilum along the greater curvature of the stomach, concurrently involving the splenic hilar vessels and surrounding lymph nodes. Ultrasound-guided fine needle aspiration biopsy confirmed it is a mesenchymal spindle cell tumor,GIST. Due to the enormous volume and local invasion, neoadjuvant chemotherapy was initially considered. After 6 months of IM 400 mg/d, CT imaging revealed marked changes in tumor heterogeneity and a significant reduction in volume. Subsequently, laparoscopic surgical resection was performed. Postoperative pathological examination, immunohistochemistry, and genetic testing collectively confirmed it is a wild-type GIST.The patient recovered well and was discharged on the 6th day after surgery, with continued oral IM(400 mg/d) after discharge. No recurrence was observed during follow-up until the publication of this report.ConclusionThis unexpected response suggests that wild-type GISTs may benefit from TKIs treatment, and the potential mechanisms warrant further investigation. Additionally, true wild-type GIST may not be discerned due to current limitations of Next-Generation Sequencing(NGS). Therefore, for advanced/high-risk GIST, additional genetic analysis can be performed after negative NGS results.

Dataset Information

A concealed inguinal presentation of a gastrointestinal stromal tumor (GIST): a case report and literature review.

Background

Case presentation

Conclusions

Publications

A concealed inguinal presentation of a gastrointestinal stromal tumor (GIST): a case report and literature review.

Similar Datasets

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