Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing

RN Ptashkin, MD Ewalt, G Jayakumaran… - Nature …, 2023 - nature.com
Genomic profiling of hematologic malignancies has augmented our understanding of
variants that contribute to disease pathogenesis and supported development of prognostic …

Clinicopathologic characterisation of myeloid neoplasms with concurrent spliceosome mutations and myeloproliferative-neoplasm-associated mutations

YC Liu, GM Illar, NG Bailey - Journal of Clinical Pathology, 2020 - jcp.bmj.com
Aims Spliceosome genes (SF3B1, SRSF2, U2AF1 and ZRSR2) are commonly mutated in
myeloid neoplasms, particularly in myelodysplastic syndromes (MDS). JAK2, MPL and …

Genomic characterization and prognostication applied to a Brazilian cohort of patients with myelofibrosis

A Nonino, PV Campregher… - International journal of …, 2020 - Springer
Genomic characterization of patients with myeloproliferative neoplasms (MPN) may lead to
better diagnostic classification, prognostic assessment, and treatment decisions. These …

[HTML][HTML] Janus kinase V617F mutation detection in patients with myelofibrosis

D Nikolova, A Yordanov, V Damyanova… - Balkan Journal of …, 2019 - ncbi.nlm.nih.gov
Myelofibrosis (MF) is characterized by a presence of an extra fibrous tissue in the bone
marrow and additional hematopoiesis. The somatic mutation in the Janus kinase 2 (JAK2) …

Análise do Comprimento Relativo de Telômeros e Investigação de Alterações Cromossômicas em Pacientes com Mielofibrose

FPLG Amorim - 2024 - icts.unb.br
A mielofibrose (MF) é uma neoplasia mieloproliferativa crônica, rara, caracterizada por
fibrose progressiva da medula óssea, hematopoiese ineficiente e sobrevida reduzida …

Integrating detection of copy neutral chromosomal losses in a clinical setting in leukemia and lymphoma by means of allelic imbalance and read depth ratio …

MC Hansen, O Cédile, M Ludvigsen, E Kjeldsen… - BioRxiv, 2019 - biorxiv.org
Chromosomal aberrations are common features of hematological malignancies, with several
recurrent aberrations recognized as important diagnostic or prognostic molecular markers …

[图书][B] Genetic aberrations in chronic myeloid neoplasms

SR Laird - 2021 - search.proquest.com
Chronic myeloid neoplasms (CMNs) are a heterogeneous group of clonal blood disorders
with diverse clinical outcomes. Genetic analysis plays a key role in the diagnosis of CMN, as …

Perfil clínico e genômico de pacientes com Mielofibrose

A Nonino - 2019 - bdtd.ucb.br
RESUMO NONINO, Alexandre. Perfil Clínico e Genômico de Pacientes Com Mielofibrose.
2019. 111 folhas. Tese de Doutorado (Pós-graduação em Ciências Genômicas e …