Normal thrombopoietin and its receptor (c-mpl) genes in children with essential thrombocythemia

Pediatric Blood & Cancer
M L RandiF Fabris

Abstract

Following the observation of thrombopoietin (TPO) gene abnormalities as the cause of familiar cases of thrombocythemia similar derangements of TPO and/or its receptor (c-mpl) might be surmised to be at the root of increased platelet count also in non-familiar (sporadic) cases. Although this was not demonstrated in adults, little data exist about childhood. We studied the molecular biology of TPO and c-mpl in seven children with non-familiar essential thrombocythemia (ET) and one child with secondary thrombocytosis (ST). Plasma TPO content was measured using a commercially available kit. Genomic DNA was extracted from whole blood by standard methods and TPO and c-mpl genes were amplified by polymerase chain reaction (PCR) and sequenced. Plasma TPO levels were normal in all our patients. No alteration was detected in either coding region, including the flanking intronic sequences of TPO and c-mpl genes. As compared to the published normal sequence of the TPO gene, one allelic base change in a non-coding region of intron 1 was found in all children with ET and ST, but this was reported as a common finding in normal subjects as well. High platelet count in our series of sporadic ET of childhood is not due to an abnormality either o...Continue Reading

References

Dec 20, 1994·Proceedings of the National Academy of Sciences of the United States of America·D C FosterA F Ching
Jan 1, 1997·Seminars in Thrombosis and Hemostasis·J J Michiels, P J Van Genderen
Feb 26, 1998·The New England Journal of Medicine·A R MoliternoJ L Spivak
Jul 11, 1998·Pediatric Hematology and Oncology·N YoshidaS Miyazaki
Jan 29, 2000·British Journal of Haematology·M L RandiA Girolami
Oct 24, 2002·Blood·Yves D PastoreJosef T Prchal
Oct 17, 2003·Hematology/oncology Clinics of North America·Adewale Adeyinka, Gordon W Dewald
Oct 17, 2003·Hematology/oncology Clinics of North America·Claire N Harrison, Anthony R Green

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Citations

Mar 21, 2007·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Luciana TeofiliLuigi M Larocca
Mar 31, 2019·Expert Review of Hematology·Maria Luigia RandiMaria Caterina Putti

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