Diagnostic challenges and proposed classification of myeloid neoplasms with overlapping features of thrombocytosis, ring sideroblasts and concurrent del(5q) and SF3B1 mutations Research Letter


Authors: Kumar, J.; Lewis, N. E.; Sherpa, S.; Londono, D.; Sun, X.; Gao, Q.; Arcila, M. E.; Roshal, M.; Zhang, Y.; Xiao, W.; Chan, A.
Title: Diagnostic challenges and proposed classification of myeloid neoplasms with overlapping features of thrombocytosis, ring sideroblasts and concurrent del(5q) and SF3B1 mutations
Keywords: clinical article; aged; middle aged; gene mutation; genetics; mutation; lenalidomide; flow cytometry; letter; polymerase chain reaction; phenotype; gene; neutrophil count; anemia; erythroid precursor cell; prevalence; genotype; gene frequency; cytogenetics; hemoglobin; in situ hybridization; blood; myelodysplastic syndrome; fluorescence in situ hybridization; bone marrow biopsy; heterozygosity; diagnosis; phosphoproteins; chromosome deletion; karyotype; karyotyping; fluorescence activated cell sorting; cytopenia; leukocyte; phosphoprotein; rank sum test; thrombocytosis; chromosome 5; chromosomes, human, pair 5; acute myeloid leukemia; refractory anemia with ringed sideroblasts; sideroblastic anemia; monosomy 7; humans; human; male; female; droplet digital polymerase chain reaction; rna splicing factor; rna splicing factors; sf3b1 mutation; sf3b1 protein, human; anemia, sideroblastic
Journal Title: Haematologica
Volume: 109
Issue: 8
ISSN: 0390-6078
Publisher: Ferrata Storti Foundation  
Date Published: 2024-08-01
Start Page: 2676
End Page: 2681
Language: English
DOI: 10.3324/haematol.2023.284599
PUBMED: 38572547
PROVIDER: scopus
PMCID: PMC11290515
DOI/URL:
Notes: The MSK Cancer Center Support Grant (P30 CA008748) is acknowledge in the PDF -- Corresponding authors is MSK author: Wenbin Xiao and Alexander Chan -- Source: Scopus
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MSK Authors
  1. Maria Eugenia Arcila
    659 Arcila
  2. Dory Mary Londono
    16 Londono
  3. Mikhail Roshal
    230 Roshal
  4. Qi   Gao
    66 Gao
  5. Alexander Yoshifumi Chan
    42 Chan
  6. Natasha Elizabeth Lewis
    31 Lewis
  7. Yanming Zhang
    199 Zhang
  8. Wenbin Xiao
    108 Xiao
  9. Xiaotian Sun
    7 Sun
  10. Jyoti Kumar
    10 Kumar
  11. Sarina Sherpa
    2 Sherpa