Mutation status of essential thrombocythemia and primary myelofibrosis defines clinical outcome

Asp, Julia; Andréasson, Björn; Hansson, Ulrika; Wasslavik, Carina; Abelsson, Johanna; Johansson, Peter; Palmqvist, Lars

doi:10.3324/haematol.2015.138958

Cited by 26 publications

(40 citation statements)

References 13 publications

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“…Indeed, JAK2 V617F -mutated cases were found to have multiple features similar to PV, suggesting that JAK2 V617F -positive ET and PV may form a biological continuum [4]; JAK2 V617F mutated ET and PV have been regarded as different phenotypes of a single myeloproliferative neoplasm [6]. It has also been suggested that the phenotypical division of PV and ET should be substituted for a classification based on the type of mutation status to better-match clinical prognosis [7]. In a previous study, we reported an association between JAK2 V617F mutation and a number of BM morphological features: mutated ET showed a higher marrow cellularity, hyperplasia of erythroid and granulocytic lineages, and a smaller number of “staghorn” megakaryocytes than non-mutated cases [9].…”

Section: Discussionmentioning

confidence: 99%

“…Mutations in JAK2 , CALR , and MPL have been shown to have prognostic value in ET [6, 7]. However, no clear association with morphological changes has been reported so far.…”

Section: Introductionmentioning

confidence: 99%

“…ET patients with the MPL mutation have significantly lower haemoglobin (Hb) and haematocrit (Hct) values, higher erythropoietin values, and significantly higher rates of transformation to secondary myelofibrosis (MF) and acute myeloid leukaemia than patients harbouring either JAK2 V617F or CALR mutations [7]. …”

Section: Introductionmentioning

confidence: 99%

“…The JAK2 V617F -activating mutation has been associated with a polycythaemia vera (PV)-like phenotype and an increased risk of thrombosis [4-7]. …”

Section: Introductionmentioning

confidence: 99%

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JAK2V617F, CALR, and MPL Mutations and Bone Marrow Histology in Patients with Essential Thrombocythaemia

et al. 2018

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Introduction: Mutations in the JAK2, CALR, and MPL genes have been shown to have prognostic value in essential thrombocythaemia (ET), but no clear association with morphological changes has been reported so far. We investigated the possible correlation between gene mutations and histopathological features in bone marrow (BM) biopsies of patients with ET. Methods: Marrow cellularity, fibrosis, and the number of total and dysmorphic megakaryocytes and clusters of megakaryocytes were compared to gene mutations in 90 cases of ET at diagnosis. Results: The JAK2^V617F mutation was found in 58.9%, CALR in 28.9%, and MPL in 4.4% of the cases, and 7.8% were triple-negative. JAK2^V617F-mutated ET showed a high BM cellularity, the lowest number of clusters of megakaryocytes and the highest number of dysmorphic megakaryocytes; CALR-mutated ET showed a reduced BM cellularity, many clusters of large megakaryocytes, and very few dysmorphic megakaryocytes; MPL-mutated ET showed the lowest BM cellularity, the highest number of clustered and large megakaryocytes, and the lowest number of dysmorphic megakaryocytes. Triple-negative ET cases had the highest BM cellularity. Conclusions: Distinct morphological patterns were associated with gene mutations in ET, supporting the classification of ET into different subtypes.

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Section: Discussionmentioning

confidence: 99%

“…Mutations in JAK2 , CALR , and MPL have been shown to have prognostic value in ET [6, 7]. However, no clear association with morphological changes has been reported so far.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…The JAK2 V617F -activating mutation has been associated with a polycythaemia vera (PV)-like phenotype and an increased risk of thrombosis [4-7]. …”

Section: Introductionmentioning

confidence: 99%

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JAK2V617F, CALR, and MPL Mutations and Bone Marrow Histology in Patients with Essential Thrombocythaemia

et al. 2018

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“…При TN-статусе медиана ОВ составила 8 лет, тогда как во всех других подгруппах она не достигнута (p = 0,015). Данные ОВ в целом не противоречат результатам других исследовательских групп [15,18,19,27], также отмечающих более высокие показатели ОВ при ста-тусе CALR+ в сравнении с носителями других мутаций. Однако для долгосрочного прогноза продолжитель-ности жизни больных ЭТ при носительстве раз-личных патогенетических мутаций необходим более длительный период наблюдения за пациентами.…”

Section: молекулярные маркеры и течение этunclassified

Molecular Genetic Markers and Clinical Characteristics of Essential Thrombocythemia

Zhernyakova¹,

Мартынкевич²,

Shuvaev³

et al. 2017

Клиническая онкогематология

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Background & Aims. The presence of different molecular genetic markers of clonality (mutations in JAK2, MPL, CALR) or their absence (triple negative status, TN) in essential thrombocythemia (ET) indicates a biological heterogeneity of the disease and can determine its clinical forms. The aim was to evaluate the association of molecular genetic markers with the clinical form and the prognosis of ET. Materials & Methods. We analyzed the data of 240 patients with ET at the age of 20-91 years (median age 58.7 years), who were observed in the Russian Research Institute of Hematology and Transfusiology from 1999 to 2016 (median observation period 37.2 months). Results. The JAK2V617F (JAK2+) mutation was found in 182 (75.9 %) of 240 patients. CALR (CALR+) mutations were found in 30 (12.5 %): type 1 (CALP7+) mutations in 13/30 (43.3 %) and type 2 (CALR2+) in 17/30 (56.7 %). MPL (MPL+) mutations were found in only 2 (0.8 %) of 240 patients. None of the mutations were detected in 26 (10.8 %) of 240 patients (TN status). Significantly higher platelet counts were observed in CALP7+ and CALR2+ subgroups during the primary diagnosis of ET compared with JAK2+ and TN groups. The mean platelet counts were 1252 * 109/L for CALR2+ and 1079 * 109/L for CALP7+ vs 841 * 109/L (p < 0.001; p = 0.06) and 775 * 109/L (p < 0.001; p = 0.04) for JAK2+ and TN, respectively. Thrombosis was diagnosed in 50 (27.4 %) of 182 patients of the JAK2+ subgroup, in 8 (30.7 %) of the 26 patients of the TN subgroup, and in 2 (18.2 %) of 11 patients of the CALP7+ subgroup. No thrombosis was found in the CALR2+ and MPL+ subgroups (p < 0.001). In general, the CALP7+ status was characterized as the most favorable in terms of prognosis (5-year overall survival rate of 100 %), compared to the least favorable TN status (5-year overall survival rate of 85 %). Conclusion. Mutations in the CALR gene were characterized by a more favorable prognosis in comparison with JAK2+and TN, as well as a decrease in the risk and frequency of thrombosis, despite higher platelet counts. TN-status of ET was associated with unfavorable prognosis.

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Thrombocytosis

Thakral¹,

Wang²

2017

Diagnosis of Blood and Bone Marrow Disorders

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Mutation status of essential thrombocythemia and primary myelofibrosis defines clinical outcome

Cited by 26 publications

References 13 publications

<b><i>JAK2</i></b><sup>V617F</sup>, <b><i>CALR</i></b>, and <b><i>MPL</i></b> Mutations and Bone Marrow Histology in Patients with Essential Thrombocythaemia

<b><i>JAK2</i></b><sup>V617F</sup>, <b><i>CALR</i></b>, and <b><i>MPL</i></b> Mutations and Bone Marrow Histology in Patients with Essential Thrombocythaemia

Molecular Genetic Markers and Clinical Characteristics of Essential Thrombocythemia

Thrombocytosis

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