Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome

NJ Brown; Z Ye; C Stutterd; SI Jayasinghe; A Schneider; S Mullen; SA Mandelstam; MS Hildebrand

Journal article

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome

NJ Brown, Z Ye, C Stutterd, SI Jayasinghe, A Schneider, S Mullen, SA Mandelstam, MS Hildebrand

Cold Spring Harbor Molecular Case Studies | COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT | Published : 2021

DOI: 10.1101/mcs.a006127

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Abstract

Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported individuals. Features include benign enchondroma and spindle-cell hemangioma, with a recognized increased risk of various malignancies. Fewer than 200 affected individuals have been reported; therefore, accurate estimates of malignancy risk are difficult to quantify and recommended surveillance guidelines are not available. The same gain-of-function IDH1 and IDH2 variants are also implicated in a variety of other benign and malignant tumors. An adult male presented with several ..

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University of Melbourne Researchers

Amy Schneider Author

Michael Hildebrand Author

Chloe Cunningham Author

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Awarded by National Health and Medical Research Council

Funding Acknowledgements

Laboratory work was supported by National Health and Medical Research Council Program Grant (1091593) to Professor Ingrid E. Scheffer and Professor Samuel F. Berkovic and a Project Grant (1129054) to Professor Samuel F. Berkovic. Professors Berkovic and Scheffer lead the Austin Health Epilepsy Research Group where M.S.H and Z.Y. are based. Further individual support to M.S.H. includes a Project Grant (1079058) and an R.D. Wright Career Development Fellowship (1063799).