Flow sorting and exome sequencing reveal the oncogenome of primary Hodgkin and Reed-Sternberg cells

Author:

Reichel Jonathan12ORCID,Chadburn Amy3,Rubinstein Paul G.4,Giulino-Roth Lisa15,Tam Wayne1,Liu Yifang1,Gaiolla Rafael16,Eng Kenneth1,Brody Joshua7,Inghirami Giorgio1,Carlo-Stella Carmelo89,Santoro Armando8,Rahal Daoud8,Totonchy Jennifer1,Elemento Olivier110,Cesarman Ethel1ORCID,Roshal Mikhail1

Affiliation:

1. Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY;

2. Tri-Institutional Training Program in Computational Biology and Medicine, New York, NY;

3. Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL;

4. John H. Stroger Jr Hospital of Cook County, Rush University Medical Center, Ruth M. Rothstein CORE Center, Chicago, IL;

5. Department of Pediatrics, Weill Cornell Medical College, New York, NY;

6. Botucatu School of Medicine, Sao Paulo State University, Botucatu, Brazil;

7. Icahn School of Medicine at Mount Sinai, New York, NY;

8. Humanitas Cancer Center, Humanitas Clinical and Research Center, Rozzano (Milan), Italy;

9. School of Medicine, University of Milan, Milan, Italy; and

10. Institute for Computational Biomedicine, Weill Cornell Medical College, New York, NY

Abstract

Key Points We show feasibility of whole-exome sequencing on purified primary HRS cells and report recurrent genetic alterations characterizing cHL. B2M is the most frequently mutated gene in cHL, strongly associated with nodular sclerosis subtype, younger age, and better overall survival.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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