Perivascular Epithelioid Cell Tumor, Malignant
Conditions
Keywords
Perivascular epithelioid cell tumors, PEComas, Myomelanocytic markers, Angiomyolipomas, Lymphangioleiomyomatoses, Visceral tumors, Fluorescence In Situ Hybridization
Brief summary
Perivascular epithelioid cell tumors (PEComas) are rare and are characterized by the expression of myomelanocytic markers. They are a complex family that includes angiomyolipomas, lymphangioleiomyomatoses and other soft tissue and visceral tumors. Due to the low prevalence of these tumors, the natural history is unclear; furthermore, a molecular classification integrating clinical, pathological and molecular parameters has not been described to date.
Interventions
None listed
Sponsors
University Hospital, Strasbourg, France
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Years to No maximum
Inclusion criteria
* Major patient (≥18 years) * Minor patient (1 to 17 years old) * PEComas diagnosed in France between 01/01/1990 and 15/09/2019 and reviewed by a sarcoma referral pathologist
Exclusion criteria
: * Opposition of the patient (or the holders of parental authority) to participate in the study * Biological tissue from a patient who does not meet all the inclusion criteria * Classic triphasic angiomyolipoma or lymphangioleiomyomatosis * Inability to provide informed information to the subject * Patient under court protection * Patient under guardianship or curatorship
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To retrospectively describe the percentage of tumors with FISH (Fluorescence In Situ Hybridization) identification of the TFE3 rearrangement out of 100 cases of PEComas diagnosed in France between 01 January 1990 and 15 September 2019 | Files analysed retrospectively from January 01, 1990 to September 15, 2019 will be examined |
Countries
France
Contacts
Primary ContactGabriel MALOUF, MD, PhD
Outcome results
None listed