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Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia
- Source :
- Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 25(9)
- Publication Year :
- 2007
-
Abstract
- Purpose Polycythemia vera (PV) and essential thrombocythemia (ET) can present in pediatric age as sporadic or familial diseases. To define the biologic profile of childhood PV and ET, we evaluated specific markers in a cohort of pediatric patients affected by PV and ET, including cases with familial occurrence. Patients and Methods Thirty-eight children with PV and ET were investigated. The control group included 58 adults with PV and ET. Endogenous erythroid colonies, qualitative reverse transcriptase polymerase chain reaction for polycythemia rubra vera-1 (PRV-1) RNA expression, human androgen receptor assay and allele specific polymerase chain reaction for JAK2 V617F mutation were undertaken in all patients. Thrombopoietin, thrombopoietin receptor (c-mpl), and erythropoietin receptor mutation analysis was performed by direct sequencing in familial cases. Results The JAK2 V617F mutation in children with PV was significantly less frequent than in adult PV. The most common myeloproliferative marker found in these patients was PRV-1 RNA overexpression. Children and adults with sporadic ET showed a similar proportion of patients with PRV-1 RNA overexpression, JAK2 V617F mutation, and clonality, while none of the familial ET showed JAK2 V617F mutation and clonality. Also, PRV-1 RNA overexpression was significantly less common. Furthermore, most patients with familial ET exhibited the dominant-positive activating mutation of c-mpl. Finally, children with PV and ET had a significant lower incidence of thrombosis than adults. Conclusion This study demonstrates that familial and sporadic ET recognize different pathogenetic mechanisms. Myeloproliferative markers are specific tests for the diagnosis of ET in children with sporadic forms, while a significant proportion of children with PV can prove negative.
- Subjects :
- Male
Cancer Research
Isoantigens
Time Factors
Rome
Cohort Studies
Polycythemia vera
hemic and lymphatic diseases
Receptors, Erythropoietin
Child
Polycythemia Vera
Aged, 80 and over
Erythroid Precursor Cells
Janus kinase 2
Membrane Glycoproteins
biology
Incidence
Middle Aged
Pedigree
Oncology
Thrombopoietin
Receptors, Androgen
Biological Markers
Female
Receptors, Thrombopoietin
Thrombocythemia, Essential
Adult
Adolescent
Receptors, Cell Surface
GPI-Linked Proteins
Myeloproliferative Disorders
medicine
Humans
RNA, Messenger
Aged
Thrombopoietin receptor
Essential thrombocythemia
business.industry
Thrombosis
Janus Kinase 2
medicine.disease
Reverse transcriptase
Erythropoietin receptor
Settore MED/15 - MALATTIE DEL SANGUE
Immunology
Mutation
biology.protein
business
Biomarkers
Follow-Up Studies
Subjects
Details
- ISSN :
- 15277755
- Volume :
- 25
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- Journal of clinical oncology : official journal of the American Society of Clinical Oncology
- Accession number :
- edsair.doi.dedup.....c48d8425ad4aeda67cbfb1a4c77371c0