JAK2 mutation-negative essential thrombocythemia in a child presenting with cerebral venous thrombosis
Essential thrombocythemia (ET) is a rare myeloproliferative disorder occurring predominantly in the elderly population. Its occurence in the pediatric age group is even more rare. We report a 13-year-old girl who presented with isolated cerebral venous thrombosis and was diagnosed with essential thr...
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doaj-688faac8bbc344918d5f95490e8837ad2020-11-24T21:45:55ZengElsevierHematology/Oncology and Stem Cell Therapy1658-38762012-01-01516668JAK2 mutation-negative essential thrombocythemia in a child presenting with cerebral venous thrombosisAfaq Ahmad Khan0Vijay Kumar1Ish Anand2Meet Kumar3Prashant Sharma4Manorama Bhargava5Sir Ganga Ram Hospital, New Delhi; Afaq Ahmad Khan · Hematology, Sir Ganga Ram Hospital Hematology, 3/17 Third Floor, Old Rajinder Nagar, New Delhi 110060, IndiaDepartment of Pathology, Hematology Unit, Ram Manohar Lohia Hospital, New DelhiSir Ganga Ram Hospital, New DelhiClinical Hematology, Tata Medical Centre, KolkataHematology, Postgraduate Institute of Medical Education & Research, Chandigarh, IndiaSir Ganga Ram Hospital, New DelhiEssential thrombocythemia (ET) is a rare myeloproliferative disorder occurring predominantly in the elderly population. Its occurence in the pediatric age group is even more rare. We report a 13-year-old girl who presented with isolated cerebral venous thrombosis and was diagnosed with essential thrombocythemia. Family screening for any thrombocytosis was 20 negative. With no secondary cause apparent for persistent thrombocytosis, we looked for the JAK2 mutation, but the result was negative. In contrast to linkage of JAK2 mutation positivity with increased thrombotic risk, our case showed that thrombosis can occur in the absence of JAK2 mutation in a case of essential thrombocythaemia. The indications for treatment and the best treatment of children with ET are currently not known, and guidelines for the management of children with ET are needed. Adult patients have near-normal life expectancy because of the low rate of leukemic conversion, but no child has been monitored long enough to assess prognosis.http://www.sciencedirect.com/science/article/pii/S1658387612500087 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Afaq Ahmad Khan Vijay Kumar Ish Anand Meet Kumar Prashant Sharma Manorama Bhargava |
spellingShingle |
Afaq Ahmad Khan Vijay Kumar Ish Anand Meet Kumar Prashant Sharma Manorama Bhargava JAK2 mutation-negative essential thrombocythemia in a child presenting with cerebral venous thrombosis Hematology/Oncology and Stem Cell Therapy |
author_facet |
Afaq Ahmad Khan Vijay Kumar Ish Anand Meet Kumar Prashant Sharma Manorama Bhargava |
author_sort |
Afaq Ahmad Khan |
title |
JAK2 mutation-negative essential thrombocythemia in a child presenting with cerebral venous thrombosis |
title_short |
JAK2 mutation-negative essential thrombocythemia in a child presenting with cerebral venous thrombosis |
title_full |
JAK2 mutation-negative essential thrombocythemia in a child presenting with cerebral venous thrombosis |
title_fullStr |
JAK2 mutation-negative essential thrombocythemia in a child presenting with cerebral venous thrombosis |
title_full_unstemmed |
JAK2 mutation-negative essential thrombocythemia in a child presenting with cerebral venous thrombosis |
title_sort |
jak2 mutation-negative essential thrombocythemia in a child presenting with cerebral venous thrombosis |
publisher |
Elsevier |
series |
Hematology/Oncology and Stem Cell Therapy |
issn |
1658-3876 |
publishDate |
2012-01-01 |
description |
Essential thrombocythemia (ET) is a rare myeloproliferative disorder occurring predominantly in the elderly population. Its occurence in the pediatric age group is even more rare. We report a 13-year-old girl who presented with isolated cerebral venous thrombosis and was diagnosed with essential thrombocythemia. Family screening for any thrombocytosis was 20 negative. With no secondary cause apparent for persistent thrombocytosis, we looked for the JAK2 mutation, but the result was negative. In contrast to linkage of JAK2 mutation positivity with increased thrombotic risk, our case showed that thrombosis can occur in the absence of JAK2 mutation in a case of essential thrombocythaemia. The indications for treatment and the best treatment of children with ET are currently not known, and guidelines for the management of children with ET are needed. Adult patients have near-normal life expectancy because of the low rate of leukemic conversion, but no child has been monitored long enough to assess prognosis. |
url |
http://www.sciencedirect.com/science/article/pii/S1658387612500087 |
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