Needle in a haystack or elephant in the room? Identifying germline predisposition syndromes in the setting of a new myeloid malignancy diagnosis.

Autor: Reinig EF; Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison, Madison, WI, USA., Rubinstein JD; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Oncology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Patil AT; Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison, Madison, WI, USA., Schussman AL; Department of Surgery, University of Wisconsin-Madison, Madison, WI, USA.; Center for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA., Horner VL; Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI, USA., Kanagal-Shamanna R; Department of Hematopathology and Molecular Diagnostics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA., Churpek JE; Division of Hematology, Medical Oncology, and Palliative Care, Department of Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Wisconsin Blood Cancer Research Institute, Madison, WI, USA., Matson DR; Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison, Madison, WI, USA. drmatson@wisc.edu.; Wisconsin Blood Cancer Research Institute, Madison, WI, USA. drmatson@wisc.edu.
Jazyk: angličtina
Zdroj: Leukemia [Leukemia] 2023 Aug; Vol. 37 (8), pp. 1589-1599. Date of Electronic Publication: 2023 Jul 01.
DOI: 10.1038/s41375-023-01955-4
Abstrakt: Myeloid malignancies associated with germline predisposition syndromes account for up to 10% of myeloid neoplasms. They are classified into three categories by the proposed 5 th Edition of the World Health Organization Classification of Hematolymphoid Tumors: (1) neoplasms with germline predisposition without a pre-existing platelet disorder or organ dysfunction, (2) neoplasms with germline predisposition and pre-existing platelet disorder, or (3) neoplasms with germline predisposition and potential organ dysfunction. Recognizing these entities is critical because patients and affected family members benefit from interfacing with hematologists who specialize in these disorders and can facilitate tailored treatment strategies. However, identification of these syndromes in routine pathology practice is often challenging, as characteristic findings associated with these diagnoses at baseline are frequently absent, nonspecific, or impossible to evaluate in the setting of a myeloid malignancy. Here we review the formally classified germline predisposition syndromes associated with myeloid malignancies and summarize practical recommendations for pathologists evaluating a new myeloid malignancy diagnosis. Our intent is to empower clinicians to better screen for germline disorders in this common clinical setting. Recognizing when to suspect a germline predisposition syndrome, pursue additional ancillary testing, and ultimately recommend referral to a cancer predisposition clinic or hematology specialist, will ensure optimal patient care and expedite research to improve outcomes for these individuals.
(© 2023. The Author(s), under exclusive licence to Springer Nature Limited.)
Databáze: MEDLINE
Externí odkaz: