Frequency, hematopathology, and detection of a new isodicentric variant of deletion 20q

Stephanie A. Smoley, Stephanie R. Fink, Sarah F. Paternoster, Kimberly J. Stockero, Lai P. Nguyen, Phuong L. Nguyen, Curtis A. Hanson, Gordon W. Dewald

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

The ider(20)(p11.21)del(20)(q11q13) anomaly was recognized only recently. Thus, its frequency and clinical significance has not been extensively studied. Due to small size and ambiguous G-band pattern, ider(20q) is usually missed in cytogenetic studies. Furthermore, the commercial FISH probe D20S108 does not distinguish among del(20q), ider(20q), and monosomy 20. Thus, we determined the frequency and hematopathology of patients with ider(20q), and the best cytogenetic methods to detect chromosome 20 anomalies. To do this, we performed FISH on interphase and metaphase cells for 12 patients with -20,+mar and 12 patients with only del(20q) in their karyotype. The marker chromosome in patients with -20,+mar proved to be ider(20q). FISH with D20S108 and 20qter distinguished ider(20q) from del(20q) and monosomy 20. Review of blood and bone marrow slides for nine patients with ider(20q) showed that one had acute myeloid leukemia and eight had myelodysplastic syndromes. Patients with ider(20q) had a more consistent presentation of multilineage dysplasia with additional involvement of the granulocytic series than patients with del(20q). This study shows ider(20q) is common in clinical practice-1/10th the incidence of del(20q)-and is strongly associated with myelodysplasia and acute myeloid leukemia.

Original languageEnglish (US)
Pages (from-to)144-149
Number of pages6
JournalCancer Genetics and Cytogenetics
Volume173
Issue number2
DOIs
StatePublished - Mar 2007

Fingerprint

Mars
Monosomy
Acute Myeloid Leukemia
Cytogenetics
Chromosomes, Human, Pair 20
Myelodysplastic Syndromes
Interphase
Metaphase
Karyotype
Genetic Markers
Bone Marrow
Incidence

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

Smoley, S. A., Fink, S. R., Paternoster, S. F., Stockero, K. J., Nguyen, L. P., Nguyen, P. L., ... Dewald, G. W. (2007). Frequency, hematopathology, and detection of a new isodicentric variant of deletion 20q. Cancer Genetics and Cytogenetics, 173(2), 144-149. https://doi.org/10.1016/j.cancergencyto.2006.11.003

Frequency, hematopathology, and detection of a new isodicentric variant of deletion 20q. / Smoley, Stephanie A.; Fink, Stephanie R.; Paternoster, Sarah F.; Stockero, Kimberly J.; Nguyen, Lai P.; Nguyen, Phuong L.; Hanson, Curtis A.; Dewald, Gordon W.

In: Cancer Genetics and Cytogenetics, Vol. 173, No. 2, 03.2007, p. 144-149.

Research output: Contribution to journalArticle

Smoley, SA, Fink, SR, Paternoster, SF, Stockero, KJ, Nguyen, LP, Nguyen, PL, Hanson, CA & Dewald, GW 2007, 'Frequency, hematopathology, and detection of a new isodicentric variant of deletion 20q', Cancer Genetics and Cytogenetics, vol. 173, no. 2, pp. 144-149. https://doi.org/10.1016/j.cancergencyto.2006.11.003
Smoley, Stephanie A. ; Fink, Stephanie R. ; Paternoster, Sarah F. ; Stockero, Kimberly J. ; Nguyen, Lai P. ; Nguyen, Phuong L. ; Hanson, Curtis A. ; Dewald, Gordon W. / Frequency, hematopathology, and detection of a new isodicentric variant of deletion 20q. In: Cancer Genetics and Cytogenetics. 2007 ; Vol. 173, No. 2. pp. 144-149.
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