Diagnostic work-up of hematological malignancies with underlying germline predisposition disorders (GPD).
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.
Palabras clave
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