Pneumothorax caused by cystic and nodular lung metastases from a malignant uterine perivascular epithelioid cell tumor (PEComa)

Abstract

Perivascular epithelioid cell tumors (PEComas) are mesenchymal neoplasms with immunoreactivity for both melanocytic and smooth muscle markers. PEComas occur at multiple sites, and malignant PEComas can undergo metastasis, recurrence and aggressive clinical courses. Although the lung is a common metastatic site of PEComas, they usually appear as multiple nodules but rarely become cystic or cavitary. Here, we describe a female patient whose lungs manifested multiple cystic, cavity-like and nodular metastases 3 years after the resection of uterine tumors tentatively diagnosed as epithelioid smooth muscle tumors with uncertain malignant potential. This patient's subsequent pneumothorax necessitated video-assisted thoracoscopic surgery, and examination of her resected lung specimens eventually led to correcting the diagnosis, i.e., to a PEComa harboring tuberous sclerosis complex 1 (TSC1) loss-of-heterozygosity that originated in the uterus and then metastasized to the lungs. The administration of a gonadotropin-releasing hormone analogue later stabilized her clinical course. To the best of our knowledge, the present case is the first in the literature that associates PEComas with a TSC1 abnormality. Additionally, the pulmonary manifestations, including imaging appearance and pneumothorax, somewhat resembled those of lymphangioleiomyomatosis, a representative disease belonging to the PEComa family. Although PEComas are rare, clinicians, radiologists and pathologists should become aware of this disease entity, especially in the combined clinical setting of multiple cystic, cavity-like, nodular lesions on computed tomography of the chest and a past history of the tumor in the female reproductive system.

Perivascular epithelioid cell tumors (PEComa) of the female genital tract: A challenging question for gynaecologic oncologist and pathologist

“…After emergency treatment of coagulopathy, an abdominal- pelvic CT scan detected an apparently large uterine fibroid and an endometrial biopsy revealed an uterine PEComa. A 44-year-old woman presented with pneumothorax due to lung metastases from a malignant uterine PEComa ( Okamoto et al, 2017 ).…”

Diagnosis and treatment of malignant PEComa tumours

“…Metastases are most commonly described in the lungs -cases of pneumothorax caused by tumour infiltration [37], and in the liver and bones. Metastases to the extraperitoneal space have also been described as well as the central nervous system, ovary, adrenal glands, peritoneum, intestinal wall, skin, stomach, and lymph nodes [3,4,35,37,38]. For this reason, the diagnosis of malignant PEComa requires a complete evaluation of the staging as in the case of other sarcomas [39].…”

A successful case of complete surgical resection via left upper and right lower lobectomy for bilateral lung metastases of a perivascular epithelioid cell tumor in the colon: a case report

“…*Correspondence: shoheijapan@jikei.ac.jp 1 Division of Thoracic Surgery, Department of Surgery, The Jikei University School of Medicine, 3-25-8 Nishishinbashi, Minatoku, Tokyo 105-0003, Japan Full list of author information is available at the end of the article treatment for metastatic recurrences of PEComas after primary lesion resection has not been established; however, radical resection of lung metastases associated with postoperative recurrence after the first radical resection of PEComas has been reported [4][5][6][7][8]. We report a patient who underwent complete surgical resection via left upper and right lower lobectomy involving a two-step procedure for bilateral lung metastases detected 8 years after undergoing radical surgery for a PEComa in the colon.…”

“…Although the natural course of PEComas is not elucidated well, PEComas have malignant potential, and cases of distant metastasis have been reported [ 2 , 3 ]. The treatment for metastatic recurrences of PEComas after primary lesion resection has not been established; however, radical resection of lung metastases associated with postoperative recurrence after the first radical resection of PEComas has been reported [ 4 – 8 ]. We report a patient who underwent complete surgical resection via left upper and right lower lobectomy involving a two-step procedure for bilateral lung metastases detected 8 years after undergoing radical surgery for a PEComa in the colon.…”