Bone marrow morphology predicts additional chromosomal abnormalities in patients with myelodysplastic syndrome with del(5q)

Julia Turbiner Geyer, Shalini Verma, Susan Mathew, Y. Lynn Wang, Joelle Racchumi, Rosanny Espinal-Witter, Shivakumar Subramaniyam, Daniel M. Knowles, Attilio Orazi

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

The current World Health Organization classification considers myelodysplastic syndrome with isolated del(5q) a distinct entity owing to its characteristic clinical and pathologic features. Recently, several studies have examined survival, leukemic transformation, and various prognostic factors in these patients. However, there is a lack of detailed comparative pathologic analysis of myelodysplastic syndrome cases in which del(5q) is present in association with additional cytogenetic abnormalities. We studied 26 cases of myelodysplastic syndrome at initial diagnosis with 5q - alone, 5q - plus 1 additional abnormality, and 5q - as part of a complex karyotype. Four of 17 patients had evidence of JAK2 V617F mutation. In contrast to cases of myelodysplastic syndrome with isolated 5q-, patients with additional abnormalities had normal mean corpuscular volume and decreased platelet counts (P <.001). Based on bone marrow examination, they were significantly more likely to have increased cellularity, trilineage dysplasia, lower proportion of small hypolobated megakaryocytes, higher number of blasts, and fibrosis. The presence of these morphologic features can be used to distinguish these more aggressive cases from those with myelodysplastic syndrome with isolated 5q - and a more benign clinical course.

Original languageEnglish
Pages (from-to)346-356
Number of pages11
JournalHuman Pathology
Volume44
Issue number3
DOIs
StatePublished - Mar 2013

Keywords

  • Adult
  • Aged
  • Aged, 80 and over
  • Antineoplastic Agents/therapeutic use
  • Bone Marrow/pathology
  • Cell Transformation, Neoplastic/genetics
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 5/genetics
  • Female
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Janus Kinase 2/genetics
  • Kaplan-Meier Estimate
  • Karyotyping
  • Lenalidomide
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes/drug therapy
  • Prognosis
  • Sequence Deletion
  • Thalidomide/analogs & derivatives

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