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Chapter 20 - Germline Predisposition to Lymphoid Neoplasm

from Section IV - Precursor Hematopoietic Neoplasms and Related Neoplasms

Published online by Cambridge University Press:  25 November 2023

By
Katherine R. Calvo ,
Nisha Patel ,
Alina Dulau-Florea  and
Kristian T. Schafernak
Edited by
Silvia Tse Bunting ,
Xiayuan Liang ,
Michele E. Paessler  and
Satheesh Chonat
Silvia Tse Bunting
Affiliation:
Cleveland Clinic Florida Weston
Xiayuan Liang
Affiliation:
University of Colorado
Michele E. Paessler
Affiliation:
University of Pennsylvania School of Medicine
Satheesh Chonat
Affiliation:
Emory University, Atlanta
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Summary

While the number of germline mutations known to confer predisposition to myeloid malignancy has gained broad recognition, there is also increasing awareness of genes predisposing to lymphoid neoplasia. This chapter addresses select genes associated with germline predisposition to lymphoid neoplasms. Genes covered in this chapter are associated with familial B-lymphoblastic leukemia (B-ALL) [1], general cancer predisposition syndromes, and primary immunodeficiency syndromes (PID) (Table 20.1). Individuals with PID are predisposed to lymphoproliferations as a result of complex interactions between germline genetic defects, viral oncogenes, impaired immunosurveillance, and chronic antigen stimulation [2]. Of note, many of the B-cell lymphoproliferations that occur in the setting of a PID show frequent Epstein-Barr virus (EBV) positivity and tendency to involve extranodal sites.

Type
Chapter
Information
Atlas of Pediatric Hematopathology , pp. 230 - 246
Publisher: Cambridge University Press
Print publication year: 2023

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