Clinicopathological features of two ultra-rare cases of malignant perivascular epithelioid cell tumors (PEComas) involving the uterus with recent updates
Malignant perivascular epithelioid tumors (PEComas) involving the uterus are uncommon. Herein, we present the clinicopathological features of two such cases, including their diagnostic implications with recent updates. A 62-year-old lady presented with vaginal bleeding. Ultrasonogram revealed a hete...
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Indian Journal of Pathology and Microbiology |
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| Online Access: | https://journals.lww.com/10.4103/ijpm.ijpm_9_23 |
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| author | Bharat Rekhi Santosh Menon |
| author_facet | Bharat Rekhi Santosh Menon |
| author_sort | Bharat Rekhi |
| collection | DOAJ |
| description | Malignant perivascular epithelioid tumors (PEComas) involving the uterus are uncommon. Herein, we present the clinicopathological features of two such cases, including their diagnostic implications with recent updates. A 62-year-old lady presented with vaginal bleeding. Ultrasonogram revealed a heterogeneous uterine mass. She underwent an endometrial biopsy and total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO), which revealed a 3.2 cm-sized proliferative tumor in the fundus. A 45-year-old lady presented with recurrent abdominal pain. She underwent cytoreductive surgery twice with adjuvant chemotherapy for multiple tumors and TAH-BSO for a uterine tumor, 2 years before. Microscopic examination of both tumors revealed markedly atypical, polygonal-shaped/epithelioid tumor cells containing eosinophilic cytoplasm and arranged in a nesting pattern with intervening thin-walled blood vessels, mitotic figures (≥ 6/10 high power fields (hpfs)), and tumor necrosis. Tumor infiltration was more than half the myometrial thickness in the first tumor and pelvic nodal metastasis. The second tumor revealed rhabdoid-like and vacuolated cells along with “spider-like” giant cells. Immunohistochemically, both the tumors were positive for HMB45 and desmin, while negative for epithelial markers. Additionally, the second tumor was positive for smooth muscle actin (SMA) and TFE3. Both patients developed tumor recurrences. In view of multiple tumor deposits, the second patient was induced with a mammalian target of rapamycin (m-TOR) inhibitor (everolimus) but unfortunately died of the disease. Malignant PEComas involving the uterus are ultra-rare, aggressive tumors. An index of suspicion, based on certain histomorphological features, supported by immunohistochemical expression of myomelanocytic markers is necessary for a correct diagnosis. Certain PEComas display TFE3 positivity. A correct diagnosis has significant implications, including an aggressive clinical course and the possibility of targeted therapy, especially in recurrences or metastasis. |
| format | Article |
| id | doaj-art-33b26c9539504585992049aac591651b |
| institution | Kabale University |
| issn | 0377-4929 0974-5130 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
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| series | Indian Journal of Pathology and Microbiology |
| spelling | doaj-art-33b26c9539504585992049aac591651b2025-01-22T15:11:46ZengWolters Kluwer Medknow PublicationsIndian Journal of Pathology and Microbiology0377-49290974-51302023-01-0167113714010.4103/ijpm.ijpm_9_23Clinicopathological features of two ultra-rare cases of malignant perivascular epithelioid cell tumors (PEComas) involving the uterus with recent updatesBharat RekhiSantosh MenonMalignant perivascular epithelioid tumors (PEComas) involving the uterus are uncommon. Herein, we present the clinicopathological features of two such cases, including their diagnostic implications with recent updates. A 62-year-old lady presented with vaginal bleeding. Ultrasonogram revealed a heterogeneous uterine mass. She underwent an endometrial biopsy and total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO), which revealed a 3.2 cm-sized proliferative tumor in the fundus. A 45-year-old lady presented with recurrent abdominal pain. She underwent cytoreductive surgery twice with adjuvant chemotherapy for multiple tumors and TAH-BSO for a uterine tumor, 2 years before. Microscopic examination of both tumors revealed markedly atypical, polygonal-shaped/epithelioid tumor cells containing eosinophilic cytoplasm and arranged in a nesting pattern with intervening thin-walled blood vessels, mitotic figures (≥ 6/10 high power fields (hpfs)), and tumor necrosis. Tumor infiltration was more than half the myometrial thickness in the first tumor and pelvic nodal metastasis. The second tumor revealed rhabdoid-like and vacuolated cells along with “spider-like” giant cells. Immunohistochemically, both the tumors were positive for HMB45 and desmin, while negative for epithelial markers. Additionally, the second tumor was positive for smooth muscle actin (SMA) and TFE3. Both patients developed tumor recurrences. In view of multiple tumor deposits, the second patient was induced with a mammalian target of rapamycin (m-TOR) inhibitor (everolimus) but unfortunately died of the disease. Malignant PEComas involving the uterus are ultra-rare, aggressive tumors. An index of suspicion, based on certain histomorphological features, supported by immunohistochemical expression of myomelanocytic markers is necessary for a correct diagnosis. Certain PEComas display TFE3 positivity. A correct diagnosis has significant implications, including an aggressive clinical course and the possibility of targeted therapy, especially in recurrences or metastasis.https://journals.lww.com/10.4103/ijpm.ijpm_9_23immunohistochemistryperivascular epithelioid cell neoplasmsarcoma |
| spellingShingle | Bharat Rekhi Santosh Menon Clinicopathological features of two ultra-rare cases of malignant perivascular epithelioid cell tumors (PEComas) involving the uterus with recent updates Indian Journal of Pathology and Microbiology immunohistochemistry perivascular epithelioid cell neoplasm sarcoma |
| title | Clinicopathological features of two ultra-rare cases of malignant perivascular epithelioid cell tumors (PEComas) involving the uterus with recent updates |
| title_full | Clinicopathological features of two ultra-rare cases of malignant perivascular epithelioid cell tumors (PEComas) involving the uterus with recent updates |
| title_fullStr | Clinicopathological features of two ultra-rare cases of malignant perivascular epithelioid cell tumors (PEComas) involving the uterus with recent updates |
| title_full_unstemmed | Clinicopathological features of two ultra-rare cases of malignant perivascular epithelioid cell tumors (PEComas) involving the uterus with recent updates |
| title_short | Clinicopathological features of two ultra-rare cases of malignant perivascular epithelioid cell tumors (PEComas) involving the uterus with recent updates |
| title_sort | clinicopathological features of two ultra rare cases of malignant perivascular epithelioid cell tumors pecomas involving the uterus with recent updates |
| topic | immunohistochemistry perivascular epithelioid cell neoplasm sarcoma |
| url | https://journals.lww.com/10.4103/ijpm.ijpm_9_23 |
| work_keys_str_mv | AT bharatrekhi clinicopathologicalfeaturesoftwoultrararecasesofmalignantperivascularepithelioidcelltumorspecomasinvolvingtheuteruswithrecentupdates AT santoshmenon clinicopathologicalfeaturesoftwoultrararecasesofmalignantperivascularepithelioidcelltumorspecomasinvolvingtheuteruswithrecentupdates |