Clinical cancer research : an official journal of the American Association for Cancer Research · 2019
Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Casey Ruth T, McLean Mary A, Challis Benjamin G, McVeigh Terri P, Warren Anne Y, Mendil Lee, Houghton Richard, De Sanctis Stefano, Kosmoliaptsis Vasilis, Sandford Richard N, Gallagher Ferdia A, Maher Eamonn R
Аннотация
PURPOSE: Inherited pathogenic variants in genes encoding the metabolic enzymes succinate dehydrogenase (SDH) and fumarate hydratase predispose to tumor development through accumulation of oncometabolites (succinate and fumarate, respectively; ref. 1). Noninvasive in vivo detection of tumor succinate by proton magnetic resonance spectroscopy (1H-MRS) has been reported in SDH-deficient tumors, but the potential utility of this approach in the management of patients with hereditary leiomyomatosis and renal cell cancer syndrome or Reed syndrome is unknown.
EXPERIMENTAL DESIGN: Magnetic resonance spectroscopy (1H-MRS) was performed on three cases and correlated with germline genetic results and tumor IHC when available.
RESULTS: Here, we have demonstrated a proof of principle that 1H-MRS can provide a noninvasive diagnosis of hereditary leiomyomatosis and renal cell cancer syndrome or Reed syndrome through detection of fumarate accumulation in vivo.
CONCLUSIONS: This study demonstrates that in vivo detection of fumarate could be employed as a functional biomarker.
EXPERIMENTAL DESIGN: Magnetic resonance spectroscopy (1H-MRS) was performed on three cases and correlated with germline genetic results and tumor IHC when available.
RESULTS: Here, we have demonstrated a proof of principle that 1H-MRS can provide a noninvasive diagnosis of hereditary leiomyomatosis and renal cell cancer syndrome or Reed syndrome through detection of fumarate accumulation in vivo.
CONCLUSIONS: This study demonstrates that in vivo detection of fumarate could be employed as a functional biomarker.