Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene

Author:

Saarinen Silva12,Kaasinen Eevi12,Karjalainen-Lindsberg Marja-Liisa34,Vesanen Kari12,Aavikko Mervi12,Katainen Riku12,Taskinen Minna25,Kytölä Soili6,Leppä Sirpa25,Hietala Marja78,Vahteristo Pia12,Aaltonen Lauri A.12

Affiliation:

1. Department of Medical Genetics,

2. Genome-Scale Biology Research Program, and

3. Department of Pathology, Haartman Institute, University of Helsinki, Helsinki, Finland;

4. Department of Pathology,

5. Department of Oncology, and

6. Laboratory of Genetics, Helsinki University Central Hospital, Helsinki, Finland;

7. Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland; and

8. Department of Clinical Genetics, Turku University Hospital, Turku, Finland

Abstract

Key Points A familial form of PMBCL is reported for the first time. Exome sequencing identifies MLL 5533C>A (His1845Asn) variant segregating with lymphoma in the reported family.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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