Dataset Information

Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.

ABSTRACT:

Background

Despite recent advances in the investigation of myeloproliferative neoplasms (MPN), the impact of genetic heterogeneity on its molecular pathogenesis has not been fully elucidated. Thus, in this study, we aim to characterize the genetic complexity in Korean patients with polycythemia vera (PV) and essential thrombocythemia (ET).

Methods

We conducted association studies using 84 single-nucleotide polymorphisms (SNPs) in 229 patients (96 with PV and 133 with ET) and 170 controls. Further, whole-genome sequencing was performed in six patients (two with JAK2 V617F and four with wild-type JAK2), and putative somatic mutations were validated in a further 69 ET patients. Clinical and laboratory characteristics were also analyzed.

Results

Several germline SNPs and the 46 haplotype were significantly associated with PV and ET. Three somatic mutations in MPDZ, IQCH, and CALR genes were selected and validated. The frequency of the CALR mutation was 58.0% (40/69) in ET patients, who did not carry JAK2/MPL mutations. Moreover, compared with JAK2 V617F-positive patients, those with CALR mutations showed lower hemoglobin and hematocrit levels (P = 0.004 and P = 0.002, respectively), higher platelet counts (P =0.008), and a lower frequency of cytoreductive therapy (P = 0.014).

Conclusion

This study was the first comprehensive investigation of the genetic characteristics of Korean patients with PV and ET. We found that somatic mutations and the 46 haplotype contribute to PV and ET pathogenesis in Korean patients.

SUBMITTER: Yoo EH

PROVIDER: S-EPMC6807207 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature

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Publications

Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.

Yoo Eun-Hyung EH Park Kyung-Jin KJ Won Hong-Hee HH Park Jun-Hee JH Park Jong-Ho JH Lee Seung-Tae ST Kim Hee-Jin HJ Bang Soo-Mee SM Chi Hyun-Sook HS Jung Chul Won CW Kim Sun-Hee SH Yun Hongseok H Sun Choong-Hyun CH Park Inho I Lee Seungmook S Lee Clarence C Merriman Barry B Luo Raymond R Tan Eileen Hwee Hong EH Park Keun-Joon KJ Yoo Na-Kyung NK Kang Jason J JJ Kim Jong-Won JW

Journal of clinical laboratory analysis 20160502 6

<h4>Background</h4>Despite recent advances in the investigation of myeloproliferative neoplasms (MPN), the impact of genetic heterogeneity on its molecular pathogenesis has not been fully elucidated. Thus, in this study, we aim to characterize the genetic complexity in Korean patients with polycythemia vera (PV) and essential thrombocythemia (ET).<h4>Methods</h4>We conducted association studies using 84 single-nucleotide polymorphisms (SNPs) in 229 patients (96 with PV and 133 with ET) and 170 c ...[more]

PMID: 27132877

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Project description:Polycythemia vera (PV) and essential thrombocythemia (ET) are rare myeloproliferative neoplasms (MPN) in children, adolescents and young adults. No recommendations are available concerning these patients' management. Transposing to children the knowledge established in adult patients is not acceptable. For a better understanding of difficulties encountered by pediatricians and adult hematologists, we conducted a national practice analysis concerning follow-up of patients under 18 diagnosed with ET or PV, in France. Then, we present data from a multicentric, descriptive, retrospective study, including 17 patients with ET or PV, diagnosed under 18, coming from 7 hematopediatric departments in France. Interviewed physicians reported a lack of expertise and theoretical training in the hematological field to diagnose and follow children with MPNs. Data from 17 patients (15 ET, 2 PV) confirmed a high proportion of asymptomatic patients at the time of diagnosis (41%). Proportion of "triple-negative" patients (59%) was higher than in adult cohorts. 60% of patients underwent a bone marrow biopsy and 31% of cases were discussed during a multi-disciplinary staff meeting. 76.5% patients were treated, with a high frequency of antithrombotic and cytoreductive drugs. No complications were observed during the 45 months of median follow-up.ConclusionPhysicians insisted on the need for training. Only the accumulation of descriptions of MPNs in children will lead to a better management of these diseases. Considering the small proportion of pediatric patients with complications after diagnosis, rapid therapeutic de-escalation seems essential to consider during the follow-up in a close collaboration with adult hematologists.What is known• Myeloproliferativ neoplams are rare and chronic deseases, most of the time affecting adults but also found in few pediatric patients. • There are no recommendations for the diagnosis, therapeutic management or follow-up of children with polycythemia vera or essential thrombocythemia.What is new• Find out how adult haematologists and paediatricians feel about the management and follow-up of paediatric patients with myeloproliferative syndrome through a national practice analysis. • Description of the "real life" follow-up of children with polycythemia vera or essential thrombocythemia in France.

Dataset Information

Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.

Background

Methods

Results

Conclusion

Publications

Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.

Similar Datasets

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