A gastrointestinal stromal tumour with pulmonary metastases mimicking unilateral gynaecomastia

MacDonald, Frank M.; Çimen, Sertaç; Molinari, Michele

doi:10.1136/bcr-2013-200905

Cited by 4 publications

(1 citation statement)

References 18 publications

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“…[4] GIST most commonly occurs in the stomach (50%–70%), followed by the small intestine (25%–36%), colorectum and appendix (5%–7%), and esophagus (1%–3%). [5] Ten to thirty percent of GISTs metastasize, most commonly to the liver (50%–60%) and peritoneum (20%–43%), and in rare cases, to the bones and lung (10%) outside the peritoneum. [6] GIST is a relatively common disease in patients with NF1, and approximately 90% of GIST associated with NF1 occurs in the small intestine.…”

Section: Introductionmentioning

confidence: 99%

Synchronous cutaneous malignant peripheral nerve sheath tumor and jejunal gastrointestinal stromal tumor and submucosal angiomyolipoma in type 1 neurofibromatosis: A case report and literature review

Kim

Rao

et al. 2023

Medicine

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Rationale: Type 1 neurofibromatosis (NF1) is one of the most prevalent genetic conditions. NF1 is characterized by cutaneous plexiform neurofibromas and café au lait skin pigmentation, and is inherited in an autosomal dominant trait with mutation in the neurofibromin 1 gene on chromosome 17. Neurofibromin is involved in Ras proto-oncogene regulation. Accordingly, NF1 may lead to malignancies, with a lifetime cancer risk of 60%. Malignant peripheral nerve sheath tumor (MPNST) is the leading cause of mortality due to NF1. The relevance of gastrointestinal stromal tumor (GIST) in NF1 is increasingly being reported in the literature and NF1-associated GIST has been identified to have an alternative molecular pathogenesis.Patient concerns: A 62-years-old female had a 7 × 5 cm growing back mass in the background of various sized cutaneous neurofibromas with café au lait spots. Computed tomography performed in the workup revealed a 4.1 cm enhancing mass near the ileal mesentery.Diagnoses: NF1 affected by cutaneous MPNST of the back, and synchronous GIST and submucosal angiomyolipoma (AML) of the jejunum. Interventions:The patient underwent laparoscopic jejunal mass excision, and excision and flap coverage for the back mass owing to the suspicion of multiple MPNSTs. However, the abdominal masses were diagnosed as GIST and AML following confirmation of the immunohistochemical profiles. Accordingly, the patient was administered adjuvant radiotherapy to the MPNST after surgery.Outcomes: Symptomatic improvements were achieved, and no subsequent relapses were observed.Lessons: Although MPNST and GIST are not rare neoplasm in NF1, only 2 case reports have been published on the synchronous occurrence of these tumors. Moreover, no case report has been published on AML in NF1, except 1 renal AML in segmental neurofibromatosis. Identifying the clinical and pathologic significances of the NF1 is important to achieve improved diagnostic accuracy.

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Section: Introductionmentioning

confidence: 99%

Synchronous cutaneous malignant peripheral nerve sheath tumor and jejunal gastrointestinal stromal tumor and submucosal angiomyolipoma in type 1 neurofibromatosis: A case report and literature review

Kim

Rao

et al. 2023

Medicine

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The epithelioid gastrointestinal stromal tumor with pulmonary metastasis

Lin

Qiu

2020

Medicine

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Rationale: Available literature states that the histological subtype of the gastrointestinal stromal tumor (GIST) with pulmonary metastasis is often spindle cell type. To our knowledge, this is the first report of the GIST with pulmonary metastasis of very uncommon epithelioid subtype. Patient concerns: We report a 63-year-old male presenting with the symptom of bloodstained sputum without obvious inducement. The patient had no chest pain, low back pain, fatigue, fever or night sweats symptoms. Diagnoses: Combined chest digital radiography and the history of the patient who presented with the colon GIST of the epithelioid subtype two years ago that the mass may be a metastasis tumor. Combined with morphological and immunohistochemical staining results, a pathological diagnosis of the GIST with pulmonary metastasis was considered. Interventions: Right lobectomy and partial upper lobectomy were performed. Outcomes: The patient had not experienced any noticeable symptom and recurrent tumors at 6 months follow-up. Lessons: We report a rare case of the GIST with pulmonary metastasis of epithelioid subtype. This case is of great significance to the pathologist's clinical work. For pathologists, if an epithelioid tumor in the lung is found, it is necessary to check whether the gastrointestinal tract also has the tumor, which may be an epithelioid GIST with pulmonary metastasis.

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