Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.
Best Pract Res Clin Haematol
; 37(1): 101537, 2024 Mar.
Article
in En
| MEDLINE
| ID: mdl-38490765
ABSTRACT
Myeloid neoplasms with germline predisposition have been recognized increasingly over the past decade with numerous newly described disorders. Penetrance, age of onset, phenotypic heterogeneity, and somatic driver events differ widely among these conditions and sometimes even within family members with the same variant, making risk assessment and counseling of these individuals inherently difficult. In this review, we will shed light on high malignant penetrance (e.g., CEBPA, GATA2, SAMD9/SAMD9L, and TP53) versus variable malignant penetrance syndromes (e.g., ANKRD26, DDX41, ETV6, RUNX1, and various bone marrow failure syndromes) and their clinical features, such as variant type and location, course of disease, and prognostic markers. We further discuss the recommended management of these syndromes based on penetrance with an emphasis on somatic aberrations consistent with disease progression/transformation and suggested timing of allogeneic hematopoietic stem cell transplant. This review will thereby provide important data that can help to individualize and improve the management for these patients.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Myelodysplastic Syndromes
/
Myeloproliferative Disorders
/
Neoplasms
Limits:
Humans
Language:
En
Journal:
Best Pract Res Clin Haematol
Year:
2024
Document type:
Article