TY - JOUR
T1 - Approach Toward Germline Predisposition Syndromes in Patients with Hematologic Malignancies
AU - Atluri, Himachandana
AU - Gerstein, Yoheved S.
AU - DiNardo, Courtney D.
N1 - Funding Information:
The authors declare the following potential conflicts of interest for the research, authorship, and/or publication of this article. Himachandana Atluri and Yoheved S. Gerstein have no relevant financial or non-financial interests to disclose. Courtney D. DiNardo has received research funding from Abbvie, Agios/Servier, Astex, Calithera, Celgene/BMS, Cleave, Foghorn, ImmuneOnc, and Loxo. She has also received honoraria/consulting fees from Abbvie, Agios/Servier, Astellas, Celgene/BMS, Cleave, Foghorn, Genentech, GenMab, GSK, Novartis, Notable Labs, and Takeda.
Publisher Copyright:
© 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2022/12
Y1 - 2022/12
N2 - Purpose of Review: Hematologic malignancies were previously thought to be primarily sporadic cancers without germline predispositions. However, over the last two decades, with the widespread use of next generation sequencing (NGS), there have been several genes have been identified that carry a risk of inheriting hematologic malignancies. Identification of individuals with hereditary hematologic malignancies (HHM) involves a high index of suspicion and careful attention to family history, clinical features, and variant allele frequency on somatic NGS panels. Recent Findings: Over the last several years, many genetic predisposition syndromes have been recognized to have unique features with both hematologic and non-hematologic co-morbidities. Multidisciplinary evaluation, including genetic counseling, is critical to optimizing diagnostic testing of individuals and at-risk family members. Prompt recognition of affected patients is imperative not only for personalized surveillance strategies but also for proper donor selection for those undergoing stem cell transplantation to avoid familial donors who also may share the same germline mutation. Summary: Herein, we describe our approach to recognizing patients suspected to carry a germline predisposition to hematologic malignancies and evaluation within a hereditary hematologic malignancies clinic (HHMC).
AB - Purpose of Review: Hematologic malignancies were previously thought to be primarily sporadic cancers without germline predispositions. However, over the last two decades, with the widespread use of next generation sequencing (NGS), there have been several genes have been identified that carry a risk of inheriting hematologic malignancies. Identification of individuals with hereditary hematologic malignancies (HHM) involves a high index of suspicion and careful attention to family history, clinical features, and variant allele frequency on somatic NGS panels. Recent Findings: Over the last several years, many genetic predisposition syndromes have been recognized to have unique features with both hematologic and non-hematologic co-morbidities. Multidisciplinary evaluation, including genetic counseling, is critical to optimizing diagnostic testing of individuals and at-risk family members. Prompt recognition of affected patients is imperative not only for personalized surveillance strategies but also for proper donor selection for those undergoing stem cell transplantation to avoid familial donors who also may share the same germline mutation. Summary: Herein, we describe our approach to recognizing patients suspected to carry a germline predisposition to hematologic malignancies and evaluation within a hereditary hematologic malignancies clinic (HHMC).
KW - Acute myeloid leukemia
KW - Germline predisposition
KW - Hematologic malignancies
KW - Next generation sequencing
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U2 - 10.1007/s11899-022-00684-2
DO - 10.1007/s11899-022-00684-2
M3 - Review article
C2 - 36279069
AN - SCOPUS:85140626164
SN - 1558-8211
VL - 17
SP - 275
EP - 285
JO - Current hematologic malignancy reports
JF - Current hematologic malignancy reports
IS - 6
ER -