Myelodysplastic syndromes associated with interstitial deletion of chromosome 5q: Clinicopathologic correlations and new insights from the prelenalidomide era

Shernan G. Holtan, Rafael Santana-Davila, Gordon W. DeWald, Rhett P. Khetterling, Ryan A. Knudson, James Hoyer, Dong Chen, Curtis A. Hanson, Luis Porrata, Ayalew Tefferi, David P. Steensma

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Abstract

To better estimate prognosis for patients with myelodysplastic syndromes (MDS) associated with clonal interstitial deletions of the long arm of chromosome 5 (del(5q)), we reviewed the medical records of 130 adults with del(5q) MDS seen at our institution over a 15-year period. Overall median survival of this cohort was 9.5 months, shorter than reported in earlier series. The least favorable outcomes are associated with complex cytogenetics, lack of any normal metaphases, normocytic rather than macrocytic erythrocyte indices, and low baseline lymphocyte counts. Lymphopenia but not neutropenia at the time of diagnosis appears to be a new adverse prognostic indicator. Cytogenetic breakpoints defined by G-banded karyotyping correlate poorly with particular disease features. Surprisingly, survival of patients with treatment-related MDS was equivalent to that of de novo MDS with del(5q) in this series. Morphologic features associated with del(5q) are diverse. Most patients with del(5q) MDS do not meet criteria for WHO-defined 5q-syndrome, and the presence of del(5q) does not appear to modify the clinical phenotype otherwise risk-stratified by the International Prognostic Scoring System (IPSS). Additional important prognostic factors not taken into account by the IPSS include the baseline erythrocyte indices, lymphocyte count, and clonal burden.

Original languageEnglish (US)
Pages (from-to)708-713
Number of pages6
JournalAmerican Journal of Hematology
Volume83
Issue number9
DOIs
StatePublished - Sep 2008

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Chromosome Deletion
Myelodysplastic Syndromes
Erythrocyte Indices
Lymphocyte Count
Cytogenetics
Clonal Deletion
Karyotyping
Chromosomes, Human, Pair 5
Lymphopenia
Survival
Metaphase
Neutropenia
Medical Records
Phenotype
Chromosome 5q Deletion Syndrome

ASJC Scopus subject areas

  • Hematology

Cite this

Myelodysplastic syndromes associated with interstitial deletion of chromosome 5q : Clinicopathologic correlations and new insights from the prelenalidomide era. / Holtan, Shernan G.; Santana-Davila, Rafael; DeWald, Gordon W.; Khetterling, Rhett P.; Knudson, Ryan A.; Hoyer, James; Chen, Dong; Hanson, Curtis A.; Porrata, Luis; Tefferi, Ayalew; Steensma, David P.

In: American Journal of Hematology, Vol. 83, No. 9, 09.2008, p. 708-713.

Research output: Contribution to journalArticle

Holtan, Shernan G. ; Santana-Davila, Rafael ; DeWald, Gordon W. ; Khetterling, Rhett P. ; Knudson, Ryan A. ; Hoyer, James ; Chen, Dong ; Hanson, Curtis A. ; Porrata, Luis ; Tefferi, Ayalew ; Steensma, David P. / Myelodysplastic syndromes associated with interstitial deletion of chromosome 5q : Clinicopathologic correlations and new insights from the prelenalidomide era. In: American Journal of Hematology. 2008 ; Vol. 83, No. 9. pp. 708-713.
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