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Chapter 19 - Germline Predisposition to Myeloid Neoplasia

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

There is increasing recognition of the role inherited and de novo germline mutations play in the development of myeloid neoplasia [1], particularly in children, adolescents, and young/middle-aged adults [2, 3]. Germline mutation inheritance may be autosomal dominant with variable penetrance, X-linked, or autosomal recessive. Family history of neoplasia or cytopenia may be helpful in identifying potential cases with germline predisposition. However, variability in disease penetrance within family members harboring the same mutation may mask early recognition of familial disease. Additionally, patients harboring de novo germline mutations may have no family history of disease. The World Health Organization’s (WHO) 2016 classification of tumors of the hematopoietic and lymphoid tissues recognizes three major classifications of myeloid neoplasms with germline predispositions: myeloid neoplasms without preexisting disorder or organ dysfunction, myeloid neoplasms with preexisting platelet disorders, and myeloid neoplasms with other organ dysfunctions (including inherited bone marrow failure syndromes) [1].

Type
Chapter
Information
Atlas of Pediatric Hematopathology , pp. 207 - 229
Publisher: Cambridge University Press
Print publication year: 2023

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