Journal article
The Impact of TSC-1 and-2 Mutations on Response to Therapy in Malignant PEComa: A Multicenter Retrospective Analysis
Genes, Vol.13(11), p.1932
11/01/2022
DOI: 10.3390/genes13111932
PMCID: PMC9689779
PMID: 36360169
Abstract
Background: Perivascular epithelioid cell neoplasms (PEComas) are a diverse family of mesenchymal tumors with myomelanocytic differentiation that disproportionately affect women and can be associated with tuberous sclerosis (TS). Although mTOR inhibition is widely used as first-line treatment, it is unclear what genomic alterations exist in these tumors and how they influence the response to therapy. Methods: This was a multicenter study conducted at five sites within the US. The data were collected from 1 January 2004 to 31 January 2021. We conducted a retrospective analysis to identify PEComa patients with next-generation sequencing (NGS) data and compared outcomes based on mutations. Results: No significant differences in survival were identified between TSC-1 and TSC-2 mutated PEComa or TSC-1/-2 versus other mutations. No significant difference was seen in progression-free survival (PFS) after first-line therapy between mTOR inhibition versus other systemic therapies. Conclusions: We were unable to detect differences in survival based on genomic alterations or PFS between mTOR inhibition versus other systemic therapies. Future studies should seek to identify other drivers of TSC-1/-2 silencing that could predict response to mTOR inhibition.
Details
- Title: Subtitle
- The Impact of TSC-1 and-2 Mutations on Response to Therapy in Malignant PEComa: A Multicenter Retrospective Analysis
- Creators
- Lawrence Liu - City Of Hope National Medical CenterCarina Dehner - Washington University in St. Louis School of MedicineNikhil Grandhi - Washington University in St. Louis School of MedicineYang Lyu - Washington University in St. Louis School of MedicineDana C. Borcherding - Washington University in St. Louis School of MedicineJohn S. A. Chrisinger - Washington University in St. Louis School of MedicineXiao Zhang - Washington University in St. Louis School of MedicineJingqin Luo - Washington University in St. Louis School of MedicineYu Tao - Washington University in St. Louis School of MedicineAmanda Parkes - Univ Wisconsin, Carbone Canc Ctr, Madison, WI 53706 USANam Q. Bui - Stanford UniversityElizabeth J. Davis - Vanderbilt UniversityMohammed M. Milhem - University of IowaVarun Monga - Univ Iowa, Holden Comprehens Canc Ctr, Iowa City, IA 52722 USAMia Weiss - Washington University in St. Louis School of MedicineBrian Van Tine - Washington University in St. Louis School of MedicineAngela C. Hirbe - Washington University in St. Louis School of Medicine
- Resource Type
- Journal article
- Publication Details
- Genes, Vol.13(11), p.1932
- DOI
- 10.3390/genes13111932
- PMID
- 36360169
- PMCID
- PMC9689779
- NLM abbreviation
- Genes (Basel)
- ISSN
- 2073-4425
- eISSN
- 2073-4425
- Publisher
- Mdpi
- Number of pages
- 7
- Grant note
- Midwest Trials Sarcoma Partnership Oncology Division funds at Washington University in STL
- Language
- English
- Date published
- 11/01/2022
- Academic Unit
- Hematology, Oncology, and Blood & Marrow Transplantation; Internal Medicine
- Record Identifier
- 9984359761202771
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