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 language | English |
|---|---|
| Pages (from-to) | 46-54 |
| Number of pages | 9 |
| Journal | American Journal of Hematology |
| Volume | 84 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2009 |
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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 journal › Article
}
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.
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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 -