Cytogenetic and molecular genetic aspects of essential thrombocythemia

David P. Steensma, Ayalew Tefferi

Research output: Contribution to journalArticle

41 Citations (Scopus)

Abstract

Essential thrombocythemia (ET) is a chronic myeloid disorder that is characterized by thrombocytosis, thrombohemorrhagic and vasomotor symptoms, a long median survival, and a low risk of transformation to leukemia. ET can be difficult to distinguish from secondary (reactive) thrombocytosis, and the diagnosis of ET can only be made after the exclusion of other marrow disorders with similar features. Although ET has been assumed to be a clonal process, recent studies have suggested that a substantial number of cases classified as ET may actually not be clonal, and nonclonality may be associated with a lower risk of thrombosis. The lack of a characteristic cytogenetic marker for ET confounds analyses of clonality and offers no insight into disease pathogenesis. There is controversy over the proper classification of thrombocytosis associated with the pathological BCR-ABL gene rearrangement; such cases are not clearly distinguishable from chronic myelogenous leukemia (CML) and should be provisionally classified as CML. New insights are emerging into the role of the megakaryocytopoiesis regulator thrombopoietin (TPO) and its receptor, c-Mpl, in ET and related disorders, but TPO-Mpl dynamics appear to be complex. In some familial thrombocythemic syndromes, mutations in the 5′ untranslated region of TPO have recently been described, but these have not yet been observed in sporadic ET. In the future, global analysis of gene expression patterns may help overcome diagnostic dilemmas, refine disease classification, and lead to an improved understanding of the pathogenesis of ET.

Original languageEnglish (US)
Pages (from-to)55-65
Number of pages11
JournalActa Haematologica
Volume108
Issue number2
DOIs
StatePublished - 2002

Fingerprint

Essential Thrombocythemia
Cytogenetics
Molecular Biology
Thrombocytosis
Thrombopoietin
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Thrombopoietin Receptors
Thrombopoiesis
Gene Rearrangement
5' Untranslated Regions
Gene Expression Profiling
Leukemia
Thrombosis
Bone Marrow
Mutation

Keywords

  • Chronic myeloproliferative disorders
  • Essential thrombocythemia
  • Leukemic transformation
  • Thrombocytosis

ASJC Scopus subject areas

  • Hematology

Cite this

Cytogenetic and molecular genetic aspects of essential thrombocythemia. / Steensma, David P.; Tefferi, Ayalew.

In: Acta Haematologica, Vol. 108, No. 2, 2002, p. 55-65.

Research output: Contribution to journalArticle

@article{a1b2a00a3dea41fb8c248362d006417f,
title = "Cytogenetic and molecular genetic aspects of essential thrombocythemia",
abstract = "Essential thrombocythemia (ET) is a chronic myeloid disorder that is characterized by thrombocytosis, thrombohemorrhagic and vasomotor symptoms, a long median survival, and a low risk of transformation to leukemia. ET can be difficult to distinguish from secondary (reactive) thrombocytosis, and the diagnosis of ET can only be made after the exclusion of other marrow disorders with similar features. Although ET has been assumed to be a clonal process, recent studies have suggested that a substantial number of cases classified as ET may actually not be clonal, and nonclonality may be associated with a lower risk of thrombosis. The lack of a characteristic cytogenetic marker for ET confounds analyses of clonality and offers no insight into disease pathogenesis. There is controversy over the proper classification of thrombocytosis associated with the pathological BCR-ABL gene rearrangement; such cases are not clearly distinguishable from chronic myelogenous leukemia (CML) and should be provisionally classified as CML. New insights are emerging into the role of the megakaryocytopoiesis regulator thrombopoietin (TPO) and its receptor, c-Mpl, in ET and related disorders, but TPO-Mpl dynamics appear to be complex. In some familial thrombocythemic syndromes, mutations in the 5′ untranslated region of TPO have recently been described, but these have not yet been observed in sporadic ET. In the future, global analysis of gene expression patterns may help overcome diagnostic dilemmas, refine disease classification, and lead to an improved understanding of the pathogenesis of ET.",
keywords = "Chronic myeloproliferative disorders, Essential thrombocythemia, Leukemic transformation, Thrombocytosis",
author = "Steensma, {David P.} and Ayalew Tefferi",
year = "2002",
doi = "10.1159/000064754",
language = "English (US)",
volume = "108",
pages = "55--65",
journal = "Acta Haematologica",
issn = "0001-5792",
publisher = "S. Karger AG",
number = "2",

}

TY - JOUR

T1 - Cytogenetic and molecular genetic aspects of essential thrombocythemia

AU - Steensma, David P.

AU - Tefferi, Ayalew

PY - 2002

Y1 - 2002

N2 - Essential thrombocythemia (ET) is a chronic myeloid disorder that is characterized by thrombocytosis, thrombohemorrhagic and vasomotor symptoms, a long median survival, and a low risk of transformation to leukemia. ET can be difficult to distinguish from secondary (reactive) thrombocytosis, and the diagnosis of ET can only be made after the exclusion of other marrow disorders with similar features. Although ET has been assumed to be a clonal process, recent studies have suggested that a substantial number of cases classified as ET may actually not be clonal, and nonclonality may be associated with a lower risk of thrombosis. The lack of a characteristic cytogenetic marker for ET confounds analyses of clonality and offers no insight into disease pathogenesis. There is controversy over the proper classification of thrombocytosis associated with the pathological BCR-ABL gene rearrangement; such cases are not clearly distinguishable from chronic myelogenous leukemia (CML) and should be provisionally classified as CML. New insights are emerging into the role of the megakaryocytopoiesis regulator thrombopoietin (TPO) and its receptor, c-Mpl, in ET and related disorders, but TPO-Mpl dynamics appear to be complex. In some familial thrombocythemic syndromes, mutations in the 5′ untranslated region of TPO have recently been described, but these have not yet been observed in sporadic ET. In the future, global analysis of gene expression patterns may help overcome diagnostic dilemmas, refine disease classification, and lead to an improved understanding of the pathogenesis of ET.

AB - Essential thrombocythemia (ET) is a chronic myeloid disorder that is characterized by thrombocytosis, thrombohemorrhagic and vasomotor symptoms, a long median survival, and a low risk of transformation to leukemia. ET can be difficult to distinguish from secondary (reactive) thrombocytosis, and the diagnosis of ET can only be made after the exclusion of other marrow disorders with similar features. Although ET has been assumed to be a clonal process, recent studies have suggested that a substantial number of cases classified as ET may actually not be clonal, and nonclonality may be associated with a lower risk of thrombosis. The lack of a characteristic cytogenetic marker for ET confounds analyses of clonality and offers no insight into disease pathogenesis. There is controversy over the proper classification of thrombocytosis associated with the pathological BCR-ABL gene rearrangement; such cases are not clearly distinguishable from chronic myelogenous leukemia (CML) and should be provisionally classified as CML. New insights are emerging into the role of the megakaryocytopoiesis regulator thrombopoietin (TPO) and its receptor, c-Mpl, in ET and related disorders, but TPO-Mpl dynamics appear to be complex. In some familial thrombocythemic syndromes, mutations in the 5′ untranslated region of TPO have recently been described, but these have not yet been observed in sporadic ET. In the future, global analysis of gene expression patterns may help overcome diagnostic dilemmas, refine disease classification, and lead to an improved understanding of the pathogenesis of ET.

KW - Chronic myeloproliferative disorders

KW - Essential thrombocythemia

KW - Leukemic transformation

KW - Thrombocytosis

UR - http://www.scopus.com/inward/record.url?scp=0036376905&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036376905&partnerID=8YFLogxK

U2 - 10.1159/000064754

DO - 10.1159/000064754

M3 - Article

VL - 108

SP - 55

EP - 65

JO - Acta Haematologica

JF - Acta Haematologica

SN - 0001-5792

IS - 2

ER -