Germline findings in cancer predisposing genes from a small cohort of chordoma patients

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2024年5月3日

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Margarita Raygada,
Liny John,
Anne Liu,
Julianne Schultz,
B. J. Thomas,
Donna Bernstein,
Markku Miettinen,
Mark Raffeld,
Liqiang Xi,
Manoj Tyagi,
Kenneth Aldape,
John Glod,
Karlyne M. Reilly,
Brigitte C. Widemann,
Mary Frances Wedekind

摘要

Introduction

Chordoma is a rare slow-growing tumor that occurs along the length of the spinal axis and arises from primitive notochordal remnants (Stepanek et al., Am J Med Genet 75:335–336, 1998). Most chordomas are sporadic, but a small percentage of cases are due to hereditary cancer syndromes (HCS) such as tuberous sclerosis 1 and 2 (TSC1/2), or constitutional variants in the gene encoding brachyury T (TBXT) (Pillay et al., Nat Genet 44:1185–1187, 2012; Yang et al., Nat Genet 41:1176–1178, 2009).

Purpose

The genetic susceptibility of these tumors is not well understood; there are only a small number of studies that have performed germline genetic testing in this population.

Methods

We performed germline genetic in chordoma patients using genomic DNA extracted by blood or saliva.

Conclusion

We report here a chordoma cohort of 24 families with newly found germline genetic mutations in cancer predisposing genes. We discuss implications for genetic counseling, clinical management, and universal germline genetic testing for cancer patients with solid tumors.