Cytogenetic abnormalities in essential thrombocythemia at presentation and transformation

Matjaz Sever, Hagop Kantarjian, Sherry Pierce, Nitin Jain, Zeev Estrov, Jorge Cortes, Srdan Verstovsek

Research output: Contribution to journalArticle

Abstract

Cytogenetic abnormalities in patients with essential thrombocythemia (ET) are infrequent. Their role in survival of patients and disease transformation is not extensively studied. We describe cytogenetic abnormalities in 172 patients with ET at a single institution. At presentation nine (5.2%) patients had cytogenetic abnormality and three (1.7%) additional patients acquired them during follow-up. Survival of patients with cytogenetic changes at presentation did not differ when compared to the patients with normal karyotype. The more common were abnormalities of chromosome 9 (n = 4), 20 (n = 2), 5 (n = 2), and complex abnormalities (n = 2). Forty-one patients (23.8%) had additional cytogenetic tests performed for monitoring purposes during follow-up. Five patients (2.9%) with normal karyotype transformed to myelofibrosis (MF) without developing new cytogenetic changes at transformation. Two patients (1.2%) with normal karyotypes at presentation transformed to myelodysplastic syndrome and acute myeloid leukemia, respectively. Both acquired complex cytogenetic changes at the time of transformation. There is no rationale for repeating cytogenetic tests in ET patients on follow up, unless blood cell count changes suggest possible transformation.

Original languageEnglish (US)
Pages (from-to)522-525
Number of pages4
JournalInternational Journal of Hematology
Volume90
Issue number4
DOIs
StatePublished - Sep 3 2009
Externally publishedYes

Fingerprint

Essential Thrombocythemia
Chromosome Aberrations
Cytogenetics
Karyotype
Chromosomes, Human, Pair 9
Primary Myelofibrosis
Survival
Blood Cell Count
Myelodysplastic Syndromes
Acute Myeloid Leukemia

Keywords

  • Acute myeloid leukemia
  • Cytogenetic abnormality
  • Essential thrombocythemia
  • Myelodysplastic syndrome
  • Myelofibrosis
  • Survival

ASJC Scopus subject areas

  • Hematology

Cite this

Cytogenetic abnormalities in essential thrombocythemia at presentation and transformation. / Sever, Matjaz; Kantarjian, Hagop; Pierce, Sherry; Jain, Nitin; Estrov, Zeev; Cortes, Jorge; Verstovsek, Srdan.

In: International Journal of Hematology, Vol. 90, No. 4, 03.09.2009, p. 522-525.

Research output: Contribution to journalArticle

Sever, Matjaz ; Kantarjian, Hagop ; Pierce, Sherry ; Jain, Nitin ; Estrov, Zeev ; Cortes, Jorge ; Verstovsek, Srdan. / Cytogenetic abnormalities in essential thrombocythemia at presentation and transformation. In: International Journal of Hematology. 2009 ; Vol. 90, No. 4. pp. 522-525.
@article{715c1fa553e44ebc959715b45509dea0,
title = "Cytogenetic abnormalities in essential thrombocythemia at presentation and transformation",
abstract = "Cytogenetic abnormalities in patients with essential thrombocythemia (ET) are infrequent. Their role in survival of patients and disease transformation is not extensively studied. We describe cytogenetic abnormalities in 172 patients with ET at a single institution. At presentation nine (5.2{\%}) patients had cytogenetic abnormality and three (1.7{\%}) additional patients acquired them during follow-up. Survival of patients with cytogenetic changes at presentation did not differ when compared to the patients with normal karyotype. The more common were abnormalities of chromosome 9 (n = 4), 20 (n = 2), 5 (n = 2), and complex abnormalities (n = 2). Forty-one patients (23.8{\%}) had additional cytogenetic tests performed for monitoring purposes during follow-up. Five patients (2.9{\%}) with normal karyotype transformed to myelofibrosis (MF) without developing new cytogenetic changes at transformation. Two patients (1.2{\%}) with normal karyotypes at presentation transformed to myelodysplastic syndrome and acute myeloid leukemia, respectively. Both acquired complex cytogenetic changes at the time of transformation. There is no rationale for repeating cytogenetic tests in ET patients on follow up, unless blood cell count changes suggest possible transformation.",
keywords = "Acute myeloid leukemia, Cytogenetic abnormality, Essential thrombocythemia, Myelodysplastic syndrome, Myelofibrosis, Survival",
author = "Matjaz Sever and Hagop Kantarjian and Sherry Pierce and Nitin Jain and Zeev Estrov and Jorge Cortes and Srdan Verstovsek",
year = "2009",
month = "9",
day = "3",
doi = "10.1007/s12185-009-0411-5",
language = "English (US)",
volume = "90",
pages = "522--525",
journal = "International Journal of Hematology",
issn = "0925-5710",
publisher = "Springer Japan",
number = "4",

}

TY - JOUR

T1 - Cytogenetic abnormalities in essential thrombocythemia at presentation and transformation

AU - Sever, Matjaz

AU - Kantarjian, Hagop

AU - Pierce, Sherry

AU - Jain, Nitin

AU - Estrov, Zeev

AU - Cortes, Jorge

AU - Verstovsek, Srdan

PY - 2009/9/3

Y1 - 2009/9/3

N2 - Cytogenetic abnormalities in patients with essential thrombocythemia (ET) are infrequent. Their role in survival of patients and disease transformation is not extensively studied. We describe cytogenetic abnormalities in 172 patients with ET at a single institution. At presentation nine (5.2%) patients had cytogenetic abnormality and three (1.7%) additional patients acquired them during follow-up. Survival of patients with cytogenetic changes at presentation did not differ when compared to the patients with normal karyotype. The more common were abnormalities of chromosome 9 (n = 4), 20 (n = 2), 5 (n = 2), and complex abnormalities (n = 2). Forty-one patients (23.8%) had additional cytogenetic tests performed for monitoring purposes during follow-up. Five patients (2.9%) with normal karyotype transformed to myelofibrosis (MF) without developing new cytogenetic changes at transformation. Two patients (1.2%) with normal karyotypes at presentation transformed to myelodysplastic syndrome and acute myeloid leukemia, respectively. Both acquired complex cytogenetic changes at the time of transformation. There is no rationale for repeating cytogenetic tests in ET patients on follow up, unless blood cell count changes suggest possible transformation.

AB - Cytogenetic abnormalities in patients with essential thrombocythemia (ET) are infrequent. Their role in survival of patients and disease transformation is not extensively studied. We describe cytogenetic abnormalities in 172 patients with ET at a single institution. At presentation nine (5.2%) patients had cytogenetic abnormality and three (1.7%) additional patients acquired them during follow-up. Survival of patients with cytogenetic changes at presentation did not differ when compared to the patients with normal karyotype. The more common were abnormalities of chromosome 9 (n = 4), 20 (n = 2), 5 (n = 2), and complex abnormalities (n = 2). Forty-one patients (23.8%) had additional cytogenetic tests performed for monitoring purposes during follow-up. Five patients (2.9%) with normal karyotype transformed to myelofibrosis (MF) without developing new cytogenetic changes at transformation. Two patients (1.2%) with normal karyotypes at presentation transformed to myelodysplastic syndrome and acute myeloid leukemia, respectively. Both acquired complex cytogenetic changes at the time of transformation. There is no rationale for repeating cytogenetic tests in ET patients on follow up, unless blood cell count changes suggest possible transformation.

KW - Acute myeloid leukemia

KW - Cytogenetic abnormality

KW - Essential thrombocythemia

KW - Myelodysplastic syndrome

KW - Myelofibrosis

KW - Survival

UR - http://www.scopus.com/inward/record.url?scp=73449116359&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=73449116359&partnerID=8YFLogxK

U2 - 10.1007/s12185-009-0411-5

DO - 10.1007/s12185-009-0411-5

M3 - Article

C2 - 19728024

AN - SCOPUS:73449116359

VL - 90

SP - 522

EP - 525

JO - International Journal of Hematology

JF - International Journal of Hematology

SN - 0925-5710

IS - 4

ER -