ESSENTIAL THROMBOCYTOSIS IN CHILDREN

Objective: Sporadic essential thrombocytosis is a very rare disease in the childhood age group and its frequency has been reported as 1/1,000,000. WHO 2008 essential thrombocytosis diagnostic criteria; high platelet count for more than one year (>450 × 109/l), exclusion of reactive or seconda...

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Autores principales:	Canan ALBAYRAK, Davut ALBAYRAK
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Diseases of the blood and blood-forming organs RC633-647.5
Acceso en línea:	https://doaj.org/article/faf711ab63da4dbfb106f27dfd30bf9b
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spelling	oai:doaj.org-article:faf711ab63da4dbfb106f27dfd30bf9b2021-11-10T04:38:19ZESSENTIAL THROMBOCYTOSIS IN CHILDREN2531-137910.1016/j.htct.2021.10.1073https://doaj.org/article/faf711ab63da4dbfb106f27dfd30bf9b2021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2531137921012207https://doaj.org/toc/2531-1379Objective: Sporadic essential thrombocytosis is a very rare disease in the childhood age group and its frequency has been reported as 1/1,000,000. WHO 2008 essential thrombocytosis diagnostic criteria; high platelet count for more than one year (>450 × 109/l), exclusion of reactive or secondary causes of thrombocytosis (iron deficiency, megaloblastic anemia, acute phase reactants, trauma, operation), no family history of myeloproliferative neoplasm and thrombocytosis, and WHO It can be summarized as the absence of myeloid neoplasm criteria. Methodology: In this study, seven cases diagnosed as sporadic essential thrombocytosis in our Pediatric Hematology clinic are presented. Six of the patients were girls and one was a boy. The median age at presentation was 13 years (the youngest 5 months, the oldest 15 years old). Application complaints: Headache, vertigo and tinnitus in adolescent children were not present in young children, they were detected incidentally. Thrombus was not detected in any patient. The median platelet count at diagnosis was 1442 × 109/l (range 963- 2438). Results: An increase in megakaryocytes was detected in bone marrow aspiration, no cytogenetic anomalies were found. Jak-2 (V617F) mutation was detected in one case and CALR mutation in two cases. No MPL (W515L) mutation was found in any case. In one case with a CALR mutation, a known type 2 mutation was detected, and in the other a new, previously unidentified mutation was detected. In the other four cases, no clonality was detected. Three cases with mutations and two cases with no mutations are being followed up with hydroxyurea therapy. The other two cases are using low-dose aspirin. Follow-up periods range from six months to nine years. No complications developed. Conclusion: Thrombocytosis is a common problem in childhood. Reactive and secondary causes are usually identified. Essential thrombocytosis is a diagnosis that should be considered after excluding other causes. Mutation studies should be performed in pediatric patients who meet the WHO 2008 criteria. While Jak-2 (V617F), CALR and MPL (W515L) mutations are seen in 90% of cases in adults, these three mutations are only seen in 25% of the childhood age group. The high number of cases with no mutations indicates that new candidate genes should be sought and studied.Canan ALBAYRAKDavut ALBAYRAKElsevierarticleDiseases of the blood and blood-forming organsRC633-647.5ENHematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S57- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the blood and blood-forming organs RC633-647.5
spellingShingle	Diseases of the blood and blood-forming organs RC633-647.5 Canan ALBAYRAK Davut ALBAYRAK ESSENTIAL THROMBOCYTOSIS IN CHILDREN
description	Objective: Sporadic essential thrombocytosis is a very rare disease in the childhood age group and its frequency has been reported as 1/1,000,000. WHO 2008 essential thrombocytosis diagnostic criteria; high platelet count for more than one year (>450 × 109/l), exclusion of reactive or secondary causes of thrombocytosis (iron deficiency, megaloblastic anemia, acute phase reactants, trauma, operation), no family history of myeloproliferative neoplasm and thrombocytosis, and WHO It can be summarized as the absence of myeloid neoplasm criteria. Methodology: In this study, seven cases diagnosed as sporadic essential thrombocytosis in our Pediatric Hematology clinic are presented. Six of the patients were girls and one was a boy. The median age at presentation was 13 years (the youngest 5 months, the oldest 15 years old). Application complaints: Headache, vertigo and tinnitus in adolescent children were not present in young children, they were detected incidentally. Thrombus was not detected in any patient. The median platelet count at diagnosis was 1442 × 109/l (range 963- 2438). Results: An increase in megakaryocytes was detected in bone marrow aspiration, no cytogenetic anomalies were found. Jak-2 (V617F) mutation was detected in one case and CALR mutation in two cases. No MPL (W515L) mutation was found in any case. In one case with a CALR mutation, a known type 2 mutation was detected, and in the other a new, previously unidentified mutation was detected. In the other four cases, no clonality was detected. Three cases with mutations and two cases with no mutations are being followed up with hydroxyurea therapy. The other two cases are using low-dose aspirin. Follow-up periods range from six months to nine years. No complications developed. Conclusion: Thrombocytosis is a common problem in childhood. Reactive and secondary causes are usually identified. Essential thrombocytosis is a diagnosis that should be considered after excluding other causes. Mutation studies should be performed in pediatric patients who meet the WHO 2008 criteria. While Jak-2 (V617F), CALR and MPL (W515L) mutations are seen in 90% of cases in adults, these three mutations are only seen in 25% of the childhood age group. The high number of cases with no mutations indicates that new candidate genes should be sought and studied.
format	article
author	Canan ALBAYRAK Davut ALBAYRAK
author_facet	Canan ALBAYRAK Davut ALBAYRAK
author_sort	Canan ALBAYRAK
title	ESSENTIAL THROMBOCYTOSIS IN CHILDREN
title_short	ESSENTIAL THROMBOCYTOSIS IN CHILDREN
title_full	ESSENTIAL THROMBOCYTOSIS IN CHILDREN
title_fullStr	ESSENTIAL THROMBOCYTOSIS IN CHILDREN
title_full_unstemmed	ESSENTIAL THROMBOCYTOSIS IN CHILDREN
title_sort	essential thrombocytosis in children
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/faf711ab63da4dbfb106f27dfd30bf9b
work_keys_str_mv	AT cananalbayrak essentialthrombocytosisinchildren AT davutalbayrak essentialthrombocytosisinchildren
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ESSENTIAL THROMBOCYTOSIS IN CHILDREN

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