Genetic Aspects of Myelodysplastic/Myeloproliferative Neoplasms

Autor: Palomo Sanchís, Laura, Acha, Pamela, Sole, F., Universitat Autònoma de Barcelona
Přispěvatelé: Institut Català de la Salut, [Palomo L] MDS Group, Institut de Recerca Contra la Leucèmia Josep Carreras, ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Bellaterra, Spain. Experimental Hematology, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Acha P, Solé F] MDS Group, Institut de Recerca Contra la Leucèmia Josep Carreras, ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus
Rok vydání: 2021
Předmět:
0301 basic medicine
Oncology
Cancer Research
medicine.medical_specialty
Myeloid
Myelodysplastic/myeloproliferative neoplasms
Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES]
Review
Disease
Gene mutation
cytogenetics
Cytogenetics
03 medical and health sciences
0302 clinical medicine
hemic and lymphatic diseases
Internal medicine
Other subheadings::Other subheadings::/genetics [Other subheadings]
medicine
RC254-282
fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS]
molecular landscape
gene mutations
Otros calificadores::Otros calificadores::/genética [Otros calificadores]
business.industry
Myelodysplastic syndromes
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
food and beverages
medicine.disease
Molecular landscape
Peripheral blood
Trastorns mieloproliferatius - Aspectes genètics
enfermedades hematológicas y linfáticas::enfermedades hematológicas::enfermedades de la médula ósea::enfermedades mielodisplásicas-mieloproliferativas [ENFERMEDADES]
Síndromes mielodisplàsiques - Aspectes genètics
Anomalies cromosòmiques
030104 developmental biology
medicine.anatomical_structure
myelodysplastic/myeloproliferative neoplasms
030220 oncology & carcinogenesis
Gene mutations
Bone marrow
Differential diagnosis
business
Hemic and Lymphatic Diseases::Hematologic Diseases::Bone Marrow Diseases::Myelodysplastic-Myeloproliferative Diseases [DISEASES]
Zdroj: Cancers
Scientia
Cancers, Vol 13, Iss 2120, p 2120 (2021)
ISSN: 2072-6694
DOI: 10.3390/cancers13092120
Popis: Simple Summary Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are clonal myeloid neoplasms characterized, at the time of their presentation, by the simultaneous presence of both myelodysplastic and myeloproliferative features. In MDS/MPN, the karyotype is often normal but mutations in genes that are common across myeloid neoplasms can be detected in a high proportion of cases by targeted sequencing. In this review, we intend to summarize the main genetic findings across all MDS/MPN overlap syndromes and discuss their relevance in the management of patients. Abstract Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are myeloid neoplasms characterized by the presentation of overlapping features from both myelodysplastic syndromes and myeloproliferative neoplasms. Although the classification of MDS/MPN relies largely on clinical features and peripheral blood and bone marrow morphology, studies have demonstrated that a large proportion of patients (~90%) with this disease harbor somatic mutations in a group of genes that are common across myeloid neoplasms. These mutations play a role in the clinical heterogeneity of these diseases and their clinical evolution. Nevertheless, none of them is specific to MDS/MPN and current diagnostic criteria do not include molecular data. Even when such alterations can be helpful for differential diagnosis, they should not be used alone as proof of neoplasia because some of these mutations may also occur in healthy older people. Here, we intend to review the main genetic findings across all MDS/MPN overlap syndromes and discuss their relevance in the management of the patients.
Databáze: OpenAIRE
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