Retroperitoneal perivascular epithelioid cell tumours: A case report and review of literature

Touloumis, Zisis; Giannakou, Niki; Sioros, Christos; Trigka, Argiro; Cheilakea, Maria; Dimitriou, Nikoletta; Grınıatsos, John

doi:10.12998/wjcc.v7.i21.3507

Cited by 4 publications

(8 citation statements)

References 61 publications

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“…Thus, the expression of Melan-A, HMB45, and SMA are the most important evidence for hepatic PEComa. This result was consistent with other studies [1–31] . Surprisingly, these markers were not 100% positive in previously reported cases, and Folpe et al [30] found that only 80% of PEComas were simultaneously positive for melanocyte and smooth muscle cell markers.…”

Section: Discussionsupporting

confidence: 92%

“…However, some scholars have suggested that PEComa may originate from undifferentiated neural crest cells with the two phenotypes described above [21] . In addition, PEComa may stem from myoblasts or smooth muscle cells that have mutated at the molecular level, and the pericytes are likely to be the ancestors of PEComa [27] . The volume of a hepatic PEComa can change over a wide range.…”

Section: Discussionmentioning

confidence: 99%

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Retrospective analysis of hepatic perivascular epithelioid cell tumour (PEComa) in a single centre for clinical diagnosis and treatment clinical diagnosis and treatment of hepatic PEComa

et al. 2022

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Our primary objective was to investigate the clinical features, diagnosis, treatment and prognosis of hepatic perivascular epithelioid cell tumour (PEComa). Thirty-five cases of pathologically proven hepatic PEComa that were treated in the Department of Hepatobiliary Centre of the First Affiliated Hospital of Nanjing Medical University from January 2008 to February 2019 were retrospectively analysed, and the literature was also reviewed. Twenty-nine females and 6 males were included in this study. The mean age of these patients was 48.0 years (range, 21–75 years). Thirteen patients complained of upper abdominal pain or discomfort, while others were accidentally discovered by imaging examination. Hepatic PEComas tended to occur in the right lobe of the liver (20 cases in the right lobe, 13 in the left lobe and 2 in the caudate lobe). Two cases were characterized by multiple tumours, and the remaining cases were single lesions (range, 1.2–12 cm). Only 8 cases were correctly diagnosed by the preoperative imaging examination, and the correct diagnosis rate was only 22.9%. The postoperative immunohistochemistry analysis showed that hepatic PEComas are positive for human melanoma black 45, Melan-A and smooth muscle actin, with the exception of 1 case that was negative for Melan-A. All patients undergoing an operation accepted regular follow-up, and the average time was 66.5 months (range, 3–132 months). Two patients who experienced tumour recurrence and 1 patient who died of cardiovascular disease, but the remaining patients showed no evidence of tumour recurrence or metastasis during the follow-up period. Hepatic PEComas are a rare type of tumours that mainly occur in young and middle-aged women. The lack of clinical manifestations and imaging findings increases the difficulty of determining a preoperative diagnosis, which mainly depends on the results of pathological examinations. Surgery is currently the only effective treatment, and long-term clinical follow-up is necessary due to the aggressive behaviour and relapse of hepatic PEComa in some patients.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Retrospective analysis of hepatic perivascular epithelioid cell tumour (PEComa) in a single centre for clinical diagnosis and treatment clinical diagnosis and treatment of hepatic PEComa

et al. 2022

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“…Angiomyolipomas are among the most common form of PEComas, but there are several uncommon forms, as well. Retroperitoneal localization has recently been established as the third most frequent, but altogether rare PEComa localization [11].…”

Section: Discussionmentioning

confidence: 99%

Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome

Igaz

Tóth²,

Dezső

et al. 2021

J Med Genet

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Gorlin-Goltz syndrome (GGS) or nevoid basal cell carcinoma syndrome is a rare tumour-overgrowth syndrome associated with multiple developmental anomalies and a wide variety of tumours. Here, we describe a case of a man aged 23 years with GGS with bilateral giant tumours adjacent to both adrenals that raised the suspicion of malignancy on imaging. Histological analysis of both surgically resected tumours revealed perivascular epitheloid cell tumours (PEComas) that were independent of the adrenals. Exome sequencing of the patient’s blood sample revealed a novel germline heterozygous frameshift mutation in the PTCH1 gene. As a second hit, a somatic five nucleotide long deletion in the PTCH1 gene was demonstrated in the tumour DNA of both PEComas. To the best of our knowledge, this is the first report on PEComa in GGS, and this finding also raises the potential relevance of PTCH1 mutations and altered sonic hedgehog signalling in PEComa pathogenesis. The presence of the same somatic mutation in the bilateral tumours might indicate the possibility of a postzygotic somatic mutation that along with the germline mutation of the same gene could represent an intriguing genetic phenomenon (type 2 segmental mosaicism).

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“…These types of tumours are of extraordinary presentation, representing an incidence of less than 1% of all benign tumours (Fenz et al, 2017), and their most frequent location are the adrenal glands (Kwazneski Ii et al, 2016), although they can be established from the retroperitoneum, bone, thyroid, lung, kidney, pancreas, liver, skin, uterus, gastrointestinal tract, etc. (D'Andrea et al, 2016;Ferrari et al, 2016;Fenz et al, 2017;Leal-Medrano et al, 2017;Touloumis et al, 2019;Zhao et al, 2019). These tumours have a nonspecific clinical presentation, being able to simulate any type of neoplasm, however, they usually debut with a painful sensation of mass, with typical characteristics of the affected organ (Cuevas et al, 2015), such as intestinal obstruction and bleeding in tumours of the gastrointestinal tract or bleeding vaginal in the case of uterine tumours.…”

Section: Discussionmentioning

confidence: 99%

Soft Tissue Perivascular Epithelioid Cell Tumour: An Unusual Finding

et al. 2021

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Perivascular epithelioid cell tumour (PEComa) is a rare mesenchymal tumour made up of clear perivascular cells with epithelioid characteristics, which co-expresses muscle and melanocytic markers with a component of spindle cells, like sarcoma and variety of other tissues. This time, we present the case of a young patient with a tumour in the dorsal region of progressive growth, compatible with PEComa of soft tissue after histopathological and immunohistochemical analysis.

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Retroperitoneal perivascular epithelioid cell tumours: A case report and review of literature

Cited by 4 publications

References 61 publications

Retrospective analysis of hepatic perivascular epithelioid cell tumour (PEComa) in a single centre for clinical diagnosis and treatment clinical diagnosis and treatment of hepatic PEComa

Retrospective analysis of hepatic perivascular epithelioid cell tumour (PEComa) in a single centre for clinical diagnosis and treatment clinical diagnosis and treatment of hepatic PEComa

Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome

Soft Tissue Perivascular Epithelioid Cell Tumour: An Unusual Finding

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