Clear Cell Myomelanocytic Tumor (PEComa) of the Duodenum in a Child With a History of Neuroblastoma

Abstract

We report herein a case of digestive clear cell myomelanocytic tumor (PEComa) that is unique in its location and presentation. The lesion, located in the duodenal wall, was diagnosed in a child with a history of cervical neuroblastoma that was in remission after surgical resection and chemotherapy. The diagnosis was obtained by examination of a biopsy specimen taken during laparoscopy. The decision was made to perform surgical resection. Examination of the surgical specimen confirmed the diagnosis of PEComa. No metastasis was found. After 2 years of follow-up, the patient is alive, without evidence of metastasis or recurrence. This case highlights the distinctive characteristics of the cells in PEComa, recognizable even on limited biopsy material. It also suggests a possible association between PEComa and neuroblastoma, 2 unusual tumors that belong to the spectrum of lesions known to occur in patients with tuberous sclerosis and that may share a possible common pathogenetic mechanism.

Metastatic Perivascular Epithelioid Cell Tumor of the Colon in a Child

“…Our search of the English medical literature through PubMed, using the key words “perivascular epithelioid cell tumor” and “PEComa” resulted in 20 cases in children younger than 18 years old, only 3 of them involving the GI tract. The first case involved the rectum of a 9‐year‐old girl (5), the second was a duodenal PEComa found 8 years after treatment of a neuroblastoma in a 12‐year‐old boy (6), and the third involved the transverse colon of a 16‐year‐old girl (7). In contrast to our patient's tumor, none of these were found to be metastatic.…”

A Liver Transplant for Local Control in a Pediatric Patient with Metastatic TFE3-Associated Perivascular Epithelioid Cell Tumor (PEComa) to the Liver

“…Unlike renal PEComas, GI PEComas are less likely associated with TSC mutations [4,5]. Only 13 pediatric GI PEComas cases have been reported, ranging from 6 to 17 years of age with a female predilection, and the most common location is the distal colon (Table 1) [5,[10][11][12][13][14][15][16][17][18][19][20][21]. Interestingly, 2 cases occurred in patients with history of neuroblastoma, and no association with TSC mutations has been observed [12,17].…”

“…Only 13 pediatric GI PEComas cases have been reported, ranging from 6 to 17 years of age with a female predilection, and the most common location is the distal colon (Table 1) [5,[10][11][12][13][14][15][16][17][18][19][20][21]. Interestingly, 2 cases occurred in patients with history of neuroblastoma, and no association with TSC mutations has been observed [12,17]. TFE3 immunostaining was performed in four cases, and they were all positive.…”