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Diagnostic work-up of hematological malignancies with underlying germline predisposition disorders (GPD).
Kanagal-Shamanna, Rashmi; Schafernak, Kristian T; Calvo, Katherine R.
Afiliación
  • Kanagal-Shamanna R; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States.
  • Schafernak KT; Division of Pathology and Laboratory Medicine, Phoenix Children's Hospital, Phoenix, AZ, United States.
  • Calvo KR; Hematology Section, Department of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, MD, United States. Electronic address: calvok@cc.nih.gov.
Semin Diagn Pathol ; 40(6): 443-456, 2023 Nov.
Article en En | MEDLINE | ID: mdl-37977953
Hematological malignancies with underlying germline predisposition disorders have been recognized by the World Health Organization 5th edition and International Consensus Classification (ICC) classification systems. The list of genes and the associated phenotypes are expanding and involve both pediatric and adult populations. While the clinical presentation and underlying molecular pathogenesis are relatively well described, the knowledge regarding the bone marrow morphologic features, the landscape of somatic aberrations associated with progression to hematological malignancies is limited. These pose challenges in the diagnosis of low-grade myelodysplastic syndrome (MDS) to hematopathologists which carries direct implication for various aspects of clinical management of the patient, donor selection for transplantation, and family members. Here in, we provide a focused review on the diagnostic work-up of hematological malignancies with underlying germline predisposition disorders with emphasis on the spectrum of hematological malignancies associated with each entity, and characteristic bone marrow morphologic, somatic cytogenetic and molecular alterations at the time of diagnosis of hematological malignancies. We also review the key clinical, morphologic, and molecular features, that should initiate screening for these entities.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndromes Mielodisplásicos / Neoplasias Hematológicas Límite: Adult / Child / Humans Idioma: En Revista: Semin Diagn Pathol Asunto de la revista: PATOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndromes Mielodisplásicos / Neoplasias Hematológicas Límite: Adult / Child / Humans Idioma: En Revista: Semin Diagn Pathol Asunto de la revista: PATOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos