Patients with telomere biology disorders show context specific somatic mosaic states with high frequency of U2AF1 variants

Alejandro Ferrer; Terra Lasho; Jenna A Fernandez; Nickolas P Steinauer; Rachel A Simon; Christy M Finke; Eva M Carmona; Mark E Wylam; Laura J Ongie; Brittany N Burnap; Cecilia Arana Yi; Lisa Z Sproat; James Foran; Talha Badar; Abhishek A Mangaonkar; Mrinal M Patnaik

doi:10.1002/ajh.27086

Patients with telomere biology disorders show context specific somatic mosaic states with high frequency of U2AF1 variants

Am J Hematol. 2023 Dec;98(12):E357-E359. doi: 10.1002/ajh.27086. Epub 2023 Sep 4.

Authors

Alejandro Ferrer^{1

2}, Terra Lasho^{1

2}, Jenna A Fernandez^{1

2}, Nickolas P Steinauer³, Rachel A Simon^{1

2}, Christy M Finke¹, Eva M Carmona⁴, Mark E Wylam⁴, Laura J Ongie⁵, Brittany N Burnap², Cecilia Arana Yi⁶, Lisa Z Sproat⁶, James Foran⁷, Talha Badar⁷, Abhishek A Mangaonkar^{1

2}, Mrinal M Patnaik^{1

2}

Affiliations

¹ Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.
² Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
³ Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
⁴ Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, Minnesota, USA.
⁵ Department of Clinical Genetics, Mayo Clinic, Rochester, Minnesota, USA.
⁶ Division of Hematology/Oncology, Mayo Clinic, Scottsdale, Arizona, USA.
⁷ Division of Hematology/Oncology, Mayo Clinic, Jacksonville, Florida, USA.

PMID: 37665761
DOI: 10.1002/ajh.27086

Abstract

Somatic mosaic states in telomere biology disorders are characterized by somatic variants in the spliceosome and DNA damage response and repair pathways. A likely maladaptive response to short telomeres that may lead to increased hematological cancer.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Biology
Humans
Splicing Factor U2AF / genetics
Telomerase* / genetics
Telomerase* / metabolism
Telomere* / genetics
Telomere* / metabolism

Substances

Splicing Factor U2AF
Telomerase
U2AF1 protein, human