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1.
Cureus ; 16(2): e54446, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38510889

RESUMO

Gastrointestinal stromal tumors (GISTs) arise from the gastrointestinal tract. In rare cases, extra-gastrointestinal stromal tumors (EGISTs) occur in the omentum, mesentery, et cetera. They are mostly asymptomatic or have unspecific symptoms. Risk stratification classification systems are based on tumor size, mitotic rate, location, and perforation. The gold standard for diagnosis is a computed tomography (CT) scan. Ultrasound/CT-guided percutaneous biopsy allows histopathology and immunochemistry results (most stain positive for CD117 (c-KIT), CD34, and/or DOG1). Mutational analysis (most are in proto-oncogene c-KIT and platelet-derived growth factor receptor A (PDGFRA)) determines appropriate therapy. Surgical resection is the gold standard of treatment, with adjuvant and neoadjuvant molecular-targeted therapies depending on recurrence risk and mutations. This report describes a rare case of GIST (omentum EGIST) with a rare presentation (acute pyelonephritis) in a 67-year-old woman. Abdominal examination showed tenderness and a positive Murphy sign on the left side. Blood analysis presented microcytic hypochromic anemia, aggravated renal function, leukocytosis, and increased C-reactive protein. Abdominal CT revealed a heterogeneous abdominal mass, and a CT-guided biopsy showed epithelioid cells positive for CD117 and DOG1, which is compatible with a GIST. The patient underwent surgery that determined the GIST's origin from the greater omentum. Histology revealed an epithelioid GIST with large dimensions and a high histologic grade. Genetic testing detected a variant in the PDGFRA gene. With a high risk of progression, the patient received a three-year course of imatinib.

2.
Cureus ; 15(10): e47465, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38022206

RESUMO

Melanoma can spread to any organ of the body. The most affected sites are the skin and subcutaneous tissue, lymph nodes, lungs, liver, brain, bone, and intestine. Early diagnosis is crucial to prompt treatment. Although the incidence of melanoma is rising, novel treatment options are being developed, enabling a better prognosis. The authors present a rare case of metastatic melanoma affecting the muscle, lymph nodes, and subcutaneous tissue. The patient complained of redness and swelling of the right thigh and inguinal region, red, painful lumps on her chest wall, and pain in the left upper abdominal quadrant. A CT of the thorax, abdomen, and pelvis was performed, and surgical excision of the left thoracic mass led to the diagnosis of metastatic melanoma. However, no primary lesion was found despite extensive investigation. The unusual presentation of muscular metastasis heralds a poor prognosis. This case highlights the difficulty of diagnosing patients with rare presentations of a rather frequent disease.

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