Molecular Characterization of Perivascular Epithelioid Cell Tumors

NCT05617105 | Unknown

• 1 other identifier: 7550
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Perivascular Epithelioid Cell Tumor, Malignant

Keywords

Perivascular epithelioid cell tumors; PEComas; Myomelanocytic markers; Angiomyolipomas; Lymphangioleiomyomatoses; Visceral tumors; Fluorescence In Situ Hybridization

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients having PEComas diagnosed in France between 01/01/1990 and 15/09/2019 and reviewed by a sarcoma referral pathologist

You may qualify if:

• 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

You may not qualify if:

• Opposition of the patient (or the holders of parental authority) to participate in the study
• Classic triphasic angiomyolipoma or lymphangioleiomyomatosis
• Inability to provide informed information to the subject
• Patient under court protection
• Patient under guardianship or curatorship

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

Service d'Oncologie - CHU de Strasbourg - France

Strasbourg, 67091, France

RECRUITING

MeSH Terms

Conditions

Perivascular Epithelioid Cell Neoplasms; Angiomyolipoma; Lymphangioleiomyomatosis

Condition Hierarchy (Ancestors)

Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Adipose Tissue; Lymphangiomyoma; Neoplasm, Lymphatic Tissue; Lymphoproliferative Disorders; Lymphatic Diseases; Hemic and Lymphatic Diseases; Immunoproliferative Disorders; Immune System Diseases

Central Study Contacts

Gabriel MALOUF, MD, PhD

CONTACT

33 3 88 11 51 41; malouf.gabriel@chru-strasbourg.fr

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 7, 2022
• First Posted: November 15, 2022
• Study Start: December 1, 2019
• Primary Completion: December 1, 2022
• Study Completion: December 31, 2022
• Last Updated: November 15, 2022

Record last verified: 2022-11

Locations

FR (1)