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

Kanagal-Shamanna, Rashmi; Schafernak, Kristian T.; Calvo, Katherine R.

doi:10.1053/j.semdp.2023.11.004

Cited by 2 publications

(1 citation statement)

References 93 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Active clinical surveillance is required given the propensity of MDS to progress into more aggressive disease compared to AML. Particularly attention, in clinical practice as well as in counselling of family members, must be given to MDS patients with germline mutations [20][21][22]. Regardless of the MDS subtype and prognostic allocation, anaemia is prevalent in 80% of MDS patients, and 50% of them receive red blood cell (RBC) transfusions during their disease [71][72][73].…”

Section: Clinical Managementmentioning

confidence: 99%

Latest Insights and Therapeutic Advances in Myelodysplastic Neoplasms

Niscola,

Gianfelici,

Giovannini

et al. 2024

Cancers

View full text Add to dashboard Cite

Myelodysplastic syndromes/neoplasms (MDSs) encompass a range of hematopoietic malignancies, commonly affecting elderly individuals. Molecular alterations in the hematopoietic stem cell compartment drive disease pathogenesis. Recent advancements in genomic profiling have provided valuable insights into the biological underpinnings of MDSs and have expanded therapeutic options, particularly for specific molecularly defined subgroups. This review highlights the diagnostic principles, classification updates, prognostic stratification systems, and novel treatments, which could inform future clinical trials and enhance the management of adult MDS patients, particularly for specific molecularly defined subgroups.

show abstract