Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis

Melanie J. Percy, Elisa Rumi

Research output: Contribution to journalArticle

Abstract

Familial and acquired erythrocytosis and thrombocytosis are characterized by myeloid lineage hyperproliferation, which is either single or multi-lineage in origin. The single lineage disorders exhibit Mendelian inheritance with polyclonal hematopoiesis and often arise from a single genetic defect. In contrast, the multi-lineage disorders exhibit complex patterns of inheritance with multi-genetic origins and clonal hematopoiesis. They have the potential to acquire JAK2 somatic mutations, but this is not the primary event. Identification of the disease-causing genes will enable better classification of familial and acquired erythrocytosis and thrombocytosis. Furthermore, it will provide an insight into the mechanisms regulating myeloid cell proliferation.

Original languageEnglish
Pages (from-to)46-54
Number of pages9
JournalAmerican Journal of Hematology
Volume84
Issue number1
DOIs
Publication statusPublished - Jan 2009

Fingerprint

Thrombocytosis
Hematopoiesis
Phenotype
Inheritance Patterns
Myeloid Cells
Cell Proliferation
Mutation
Genes
Primary familial and congenital Polycythemia

ASJC Scopus subject areas

  • Hematology

Cite this

Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis. / Percy, Melanie J.; Rumi, Elisa.

In: American Journal of Hematology, Vol. 84, No. 1, 01.2009, p. 46-54.

Research output: Contribution to journalArticle

@article{104f5395642241cdaa30e771713c8a84,
title = "Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis",
abstract = "Familial and acquired erythrocytosis and thrombocytosis are characterized by myeloid lineage hyperproliferation, which is either single or multi-lineage in origin. The single lineage disorders exhibit Mendelian inheritance with polyclonal hematopoiesis and often arise from a single genetic defect. In contrast, the multi-lineage disorders exhibit complex patterns of inheritance with multi-genetic origins and clonal hematopoiesis. They have the potential to acquire JAK2 somatic mutations, but this is not the primary event. Identification of the disease-causing genes will enable better classification of familial and acquired erythrocytosis and thrombocytosis. Furthermore, it will provide an insight into the mechanisms regulating myeloid cell proliferation.",
author = "Percy, {Melanie J.} and Elisa Rumi",
year = "2009",
month = "1",
doi = "10.1002/ajh.21313",
language = "English",
volume = "84",
pages = "46--54",
journal = "American Journal of Hematology",
issn = "0361-8609",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis

AU - Percy, Melanie J.

AU - Rumi, Elisa

PY - 2009/1

Y1 - 2009/1

N2 - Familial and acquired erythrocytosis and thrombocytosis are characterized by myeloid lineage hyperproliferation, which is either single or multi-lineage in origin. The single lineage disorders exhibit Mendelian inheritance with polyclonal hematopoiesis and often arise from a single genetic defect. In contrast, the multi-lineage disorders exhibit complex patterns of inheritance with multi-genetic origins and clonal hematopoiesis. They have the potential to acquire JAK2 somatic mutations, but this is not the primary event. Identification of the disease-causing genes will enable better classification of familial and acquired erythrocytosis and thrombocytosis. Furthermore, it will provide an insight into the mechanisms regulating myeloid cell proliferation.

AB - Familial and acquired erythrocytosis and thrombocytosis are characterized by myeloid lineage hyperproliferation, which is either single or multi-lineage in origin. The single lineage disorders exhibit Mendelian inheritance with polyclonal hematopoiesis and often arise from a single genetic defect. In contrast, the multi-lineage disorders exhibit complex patterns of inheritance with multi-genetic origins and clonal hematopoiesis. They have the potential to acquire JAK2 somatic mutations, but this is not the primary event. Identification of the disease-causing genes will enable better classification of familial and acquired erythrocytosis and thrombocytosis. Furthermore, it will provide an insight into the mechanisms regulating myeloid cell proliferation.

UR - http://www.scopus.com/inward/record.url?scp=58149469238&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=58149469238&partnerID=8YFLogxK

U2 - 10.1002/ajh.21313

DO - 10.1002/ajh.21313

M3 - Article

C2 - 19006225

AN - SCOPUS:58149469238

VL - 84

SP - 46

EP - 54

JO - American Journal of Hematology

JF - American Journal of Hematology

SN - 0361-8609

IS - 1

ER -