Difficulty distinguishing essential thrombocythaemia from polycythaemia vera in children with <i><scp>JAK</scp>2</i> V617F‐positive myeloproliferative neoplasms

Kucine, Nicole; Al-Kawaaz, Mustafa; Hajje, Daher; Bussel, James B.; Orazi, Attilio

doi:10.1111/bjh.15386

Cited by 16 publications

(12 citation statements)

References 7 publications

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“…As patients with ET do not have distinctive features based on blood analysis and because the majority of these patients lack any of the three driver mutations, it is often difficult at the time of diagnosis to differentiate true patients with ET from patients with reactive thrombocytosis. This is further supported by several reports that have demonstrated the difficulty in excluding cases of secondary thrombocytosis from cases of true ET [ 8 , 22 , 23 ]. On the other hand, these two groups were different in terms of complications, as patients with reactive thrombocytosis experienced no complications after a median 82.3‐month follow‐up.…”

Section: Discussionsupporting

confidence: 74%

Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: A retrospective nationwide survey

Ishida

Miyajima

Hyakuna

et al. 2020

eJHaem

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Background Philadelphia‐negative (Ph‐negative) myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are exceptionally rare during childhood. Thus, clinical features of pediatric Ph‐negative MPNs remain largely unknown. This study was therefore performed to address this. Methods We performed a retrospective study to collect clinical information of children diagnosed with Ph‐negative MPNs from 2000 to 2016 using questionnaires in qualified institutions in Japan. The results obtained from the questionnaire survey were then combined with those from the national registry data. Results Among 50 children identified, five had PV, 44 had ET, and one had PMF. Median age at diagnosis was 14.0, 9.0, and 0 years, respectively. Male to female ratio was 4:1, 21:23, and 1:0, respectively. Detection rates of the JAK2 V617F variant were 0/5 in PV and 9/39 in ET. Frequencies of complications, such as thrombosis and subsequent leukemia, were lower than complication frequencies in adults. We identified two children who developed subsequent leukemia, which has not been reported previously, and one of them died. Conclusion This is the first nationally representative survey of pediatric Ph‐negative MPNs. Given its rarity, an international collaboration with comprehensive genetic analyses might be needed to fully elucidate the clinical and genetic features.

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Section: Discussionsupporting

confidence: 74%

Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: A retrospective nationwide survey

Ishida

Miyajima

Hyakuna

et al. 2020

eJHaem

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“…94,[97][98][99] This underscores the importance of identifying appropriate diagnostic criteria for use in pediatrics-while the WHO criteria may be appropriate for adults, they likely cannot be applied to children, who are more frequently triple negative and have different normal values than adults for certain blood counts, including red blood cell (RBC) count, Hb, and hematocrit (Hct), which vary with age. 100 Eight children with a JAK2 V617F -mutated MPN were examined to see if their type of MPN could be clearly discerned. Two children met WHO criteria for PV, while six would have met criteria utilizing age-specific lab values.…”

Section: Sm In the Midostaurin Eramentioning

confidence: 99%

“…Although the primary drivers of adult MPNs are well established, the molecular pathogeneisis in children is largely unkown, and some studies suggest higher rates of “triple‐negative” disease (Figure ) . This underscores the importance of identifying appropriate diagnostic criteria for use in pediatrics—while the WHO criteria may be appropriate for adults, they likely cannot be applied to children, who are more frequently triple negative and have different normal values than adults for certain blood counts, including red blood cell (RBC) count, Hb, and hematocrit (Hct), which vary with age . Eight children with a JAK2 V617F ‐mutated MPN were examined to see if their type of MPN could be clearly discerned.…”

Section: Introductionmentioning

confidence: 99%

“…Eight children with a JAK2 V617F ‐mutated MPN were examined to see if their type of MPN could be clearly discerned. Two children met WHO criteria for PV, while six would have met criteria utilizing age‐specific lab values . As we learn more about MPNs in children, we likely need to start rethinking these diseases in context with what is and isn't normal in this patient population.…”

Section: Introductionmentioning

confidence: 99%

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Emerging translational science discoveries, clonal approaches, and treatment trends in chronic myeloproliferative neoplasms

Mughal

Pemmaraju

Radich

et al. 2019

Hematological Oncology

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The 60th American Society of Hematology (ASH) held in San Diego in December 2018 was followed by the 13th Post‐ASH chronic myeloproliferative neoplasms (MPNs) workshop on December 4 and 5, 2018. This closed annual workshop, first introduced in 2006 by Goldman and Mughal, was organized in collaboration with Alpine Oncology Foundation and allowed experts in preclinical and clinical research in the chronic MPNs to discuss the current scenario, including relevant presentations at ASH, and address pivotal open questions that impact translational research and clinical management. This review is based on the presentations and deliberations at this workshop, and rather than provide a resume of the proceedings, we have selected some of the important translational science and treatment issues that require clarity. We discuss the experimental and observational evidence to support the intimate interaction between aging, inflammation, and clonal evolution of MPNs, the clinical impact of the unfolding mutational landscape on the emerging targets and treatment of MPNs, new methods to detect clonal heterogeneity, the challenges in managing childhood and adolescent MPN, and reflect on the treatment of systemic mastocytosis (SM) following the licensing of midostaurin.

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“…Polycythemia vera (PV) and essential thrombocythemia (ET), two classical myeloproliferative neoplasms (MPNs), are clonal disorders associated with marrow hyperplasia and driver mutations involving JAK2 , CALR , or MPL 1,2 . The World Health Organization's (WHO) diagnostic criteria were based on features identified in adult patients, 2 and alternative pediatric diagnostic criteria have been proposed 3 . In addition, risk‐stratification schema and treatment guidelines have been developed for adult patients 4,5 .…”

Section: Introductionmentioning

confidence: 99%

Use of pegylated interferon in young patients with polycythemia vera and essential thrombocythemia

Kucine

Bergmann

Krichevsky³

et al. 2020

Pediatric Blood & Cancer

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Myeloproliferative neoplasms (MPN) are rare disorders in young patients, and because of this, standardized treatment recommendations are not available. Pediatric patients are more frequently treated with hydroxyurea than interferon, yet there are no data suggesting this is the best practice. Current treatment guidelines for adults suggest using interferon as upfront therapy in young patients. We reviewed the cases of 13 young patients with polycythemia vera or essential thrombocythemia, who were treated with interferon. Extreme thrombocytosis was well controlled and the medication was tolerated by many. Our work shows the need for prospective studies evaluating interferon in our youngest patients with MPN.

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Difficulty distinguishing essential thrombocythaemia from polycythaemia vera in children with JAK2 V617F‐positive myeloproliferative neoplasms

Cited by 16 publications

References 7 publications

Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: A retrospective nationwide survey

Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: A retrospective nationwide survey

Emerging translational science discoveries, clonal approaches, and treatment trends in chronic myeloproliferative neoplasms

Use of pegylated interferon in young patients with polycythemia vera and essential thrombocythemia

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