The Impact of TSC-1 and -2 Mutations on Response to Therapy in Malignant PEComa: A Multicenter Retrospective Analysis.

Autor:	Liu L; City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA., Dehner C; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA., Grandhi N; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., Lyu Y; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA., Borcherding DC; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA., Chrisinger JSA; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA., Zhang X; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA., Luo J; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA., Tao Y; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA., Parkes A; Carbone Cancer Center, University of Wisconsin, Madison, WI 53706, USA., Bui NQ; Stanford Cancer Institute, Stanford University, Palo Alto, CA 94305, USA., Davis EJ; Ingram Cancer Center, Vanderbilt University, Nashville, TN 37232, USA., Milhem MM; Holden Comprehensive Cancer Center, University of Iowa, Iowa City, IA 52722, USA., Monga V; Holden Comprehensive Cancer Center, University of Iowa, Iowa City, IA 52722, USA., Weiss M; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA., Tine BV; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA., Hirbe AC; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Jazyk:	angličtina
Zdroj:	Genes [Genes (Basel)] 2022 Oct 24; Vol. 13 (11). Date of Electronic Publication: 2022 Oct 24.
DOI:	10.3390/genes13111932
Abstrakt:	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.
Databáze:	MEDLINE
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