تقرير
A Rare Metastatic Mesenteric Malignant PEComa with TSC2 Mutation Treated with Palliative Surgical Resection and Nab-Sirolimus: A Case Report
| العنوان: | A Rare Metastatic Mesenteric Malignant PEComa with TSC2 Mutation Treated with Palliative Surgical Resection and Nab-Sirolimus: A Case Report |
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| المؤلفون: | Meredith, Luke, Chao, Timothy, Nevler, Avinoam, Mallick, Atrayee Basu, Singla, Rajan, McCue, Peter, Bowne, Wilbur, Jiang, MD, PhD, Wei |
| المصدر: | Kimmel Cancer Center Faculty Papers |
| بيانات النشر: | Jefferson Digital Commons |
| سنة النشر: | 2023 |
| المجموعة: | Jefferson Digital Commons (Thomas Jefferson University, Philadelphia) |
| مصطلحات موضوعية: | humans, male, MTOR inhibitors, mutation, perivascular epithelioid cell neoplasms, sarcoma, sirolimus, TOR serine-threonine kinases, Genomics, Medical Pathology, Oncology, Surgery |
| الوصف: | BACKGROUND: Malignant perivascular epithelioid cell tumors (PEComas) are exceedingly rare malignant mesenchymal neoplasms with characteristic morphological and immunohistochemical (IHC) patterns. However, some malignant PEComas are poorly differentiated with atypical histopathological features, making a definitive diagnosis difficult. PEComas are most commonly found in females and often show either TSC1 or TSC2 alterations, which result in the activation of the mTOR pathway, or TFE3 fusions. Given these molecular characteristics, mTOR inhibitors have recently been approved by the FDA in the treatment of malignant PEComas, particularly in those with TSC1/2 alterations. Therefore, molecular analyses may be helpful for both the diagnostic workup of and predicting response to mTOR inhibitors in cases of malignant PEComas. CASE PRESENTATION: Here, we report a case of an aggressive, 23 cm mesenteric malignant PEComa with multiple peritoneal metastases in a young male patient. Pathological examination of the initial biopsy showed a malignant epithelioid neoplasm with high-grade morphology and atypical immunoprofile, which precluded a definitive diagnosis. Because of the patient's excessive transfusion requirements due to intra-tumoral hemorrhage, a palliative R2 resection was performed. Histopathological examination of the tumor revealed focal immunoreactivity for Melan-A, HMB-45, desmin, and CD117. Although a diagnosis of malignant PEComa was favored, other entities such as epithelioid gastrointestinal stromal tumor (GIST) or melanoma could not be definitively ruled out. Given the favored diagnosis, the patient was started on sirolimus, an mTOR inhibitor, rather than chemotherapy. Molecular analyses were performed and the tumor was found to harbor mutations in TP53 and TSC2, supporting a definitive diagnosis of malignant PEComa. The patient was then switched to nab-sirolimus, with initial stabilization of the disease. CONCLUSIONS: This report details a multidisciplinary approach for the diagnosis and management of a ... |
| نوع الوثيقة: | report |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | https://jdc.jefferson.edu/kimmelccfp/99Test; https://jdc.jefferson.edu/context/kimmelccfp/article/1099/viewcontent/Rare_Metastatic_Mesenteric_Malignant_PEComa.pdfTest; https://jdc.jefferson.edu/context/kimmelccfp/article/1099/filename/0/type/additional/viewcontent/Supplemental_Figure.docxTest |
| الإتاحة: | https://jdc.jefferson.edu/kimmelccfp/99Test https://jdc.jefferson.edu/context/kimmelccfp/article/1099/viewcontent/Rare_Metastatic_Mesenteric_Malignant_PEComa.pdfTest https://jdc.jefferson.edu/context/kimmelccfp/article/1099/filename/0/type/additional/viewcontent/Supplemental_Figure.docxTest |
| حقوق: | http://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.B479E191 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |