Essential thrombocythaemia with mutation inMPL: clinicopathological correlation and comparison withJAK2V617F-mutated andCALR-mutated genotypes

Alvarez‐Larrán, Alberto; Martı́nez, Daniel; Arenillas, Leonor; Rubio, Ariadna; Arellano‐Rodrigo, Eduardo; Boluda, Juan Carlos Hernández; Papaleo, Natalia; Caballero, Gonzalo; Martínez, Clara; Ferrer‐Marín, Francisca; Mata, María Isabel; Pérez‐Encinas, Manuel; Durán, Maria Antònia; Alonso, José M.; Carreño‐Tarragona, Gonzalo; Alonso, J.M.; Noya, Soledad; Magro, Elena; Pérez, Raúl; López‐Guerra, Mònica; Pastor‐Galán, Irene; Cervantes, Francisco; Besses, Carlos; Colomo, Luís; Rozman, Marı́a

doi:10.1136/jclinpath-2018-205227

Cited by 13 publications

(18 citation statements)

References 24 publications

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“…These conditions notwithstanding, we have documented, even prior to central pathology review, a significantly higher rate of fibrotic progression in MPL -mutated ET compared to patients with other driver mutations. While not all reports are consistent in this regard 14 , our data remain aligned with the majority of large scale, mature studies on the subject 8 , 9 . After central pathology review, the similar rates of fibrotic progression between morphologically confirmed MPL -mutated ET and those reassigned as prefibrotic PMF further suggest the latter to be biologically more akin to PMF.…”

supporting

confidence: 86%

MPL-mutated essential thrombocythemia: a morphologic reappraisal

Szuber

Hanson

Lasho

et al. 2018

Blood Cancer Journal

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supporting

confidence: 86%

MPL-mutated essential thrombocythemia: a morphologic reappraisal

Szuber

Hanson

Lasho

et al. 2018

Blood Cancer Journal

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“…Calreticulin ( CALR ) gene mutations have recently been discovered in about 20%–35% of patients affected by essential thrombocythemia (ET) and primary myelofibrosis (PMF) [26]. An additional percentage of ET patients presents with MPL mutation [27].…”

Section: Digital Pcr In Philadelphia Negative Chronic Myeloprolifementioning

confidence: 99%

“…Due to the lack of effective therapies, able to induce molecular remission in MPN patients, the development of techniques for the detection of MRD has not been heavily pushed. Recently, a new scenario is on the horizon with new targeted therapies available or under development [27].…”

Section: Digital Pcr In Philadelphia Negative Chronic Myeloprolifementioning

confidence: 99%

Digital PCR in Myeloid Malignancies: Ready to Replace Quantitative PCR?

Cilloni

Petiti

Rosso

et al. 2019

IJMS

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New techniques are on the horizon for the detection of small leukemic clones in both, acute leukemias and myeloproliferative disorders. A promising approach is based on digital polymerase chain reaction (PCR). Digital PCR (dPCR) is a breakthrough technology designed to provide absolute nucleic acid quantification. It is particularly useful to detect a low amount of target and therefore it represents an alternative method for detecting measurable residual disease (MRD). The main advantages are the high precision, the very reliable quantification, the absolute quantification without the need for a standard curve, and the excellent reproducibility. Nowadays the main disadvantages of this strategy are the costs that are still higher than standard qPCR, the lack of standardized methods, and the limited number of laboratories that are equipped with instruments for dPCR. Several studies describing the possibility and advantages of using digital PCR for the detection of specific leukemic transcripts or mutations have already been published. In this review we summarize the available data on the use of dPCR in acute myeloid leukemia and myeloproliferative disorders.

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“…As concluded from the serial revisions of the prognostication models, thrombosis risk may vary according to the mutational status. For instance, the integration of MPL mutations in the revised IPSET model relied on the association of this mutation with older age (a main risk factor for ET prognosis) [ 38 ]. Although MPL -mutated patients share a similar clinical picture with CALR -mutants, the latter group has a lower incidence of thrombosis, especially when compared to JAK2 V617F mutated counterpart (10.5 vs .…”

Section: Risk Factors and Stratification Modelsmentioning

confidence: 99%

Essential Thrombocythemia and Acquired von Willebrand Syndrome: The Shadowlands between Thrombosis and Bleeding

Awada

Voso

Guglielmelli

et al. 2020

Cancers

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Over the past decade, new insights have emerged on the pathophysiology of essential thrombocythemia (ET), its clinical management, and associated thrombohemostatic disturbances. Here, we review the latest diagnostic and risk stratification modalities of ET and its therapeutics. Moreover, we discuss the clinical evidence-based benefits, deriving from major clinical trials, of using cytoreductive therapy and antiplatelet agents to lower the risk of fatal vascular events. Also, we focus on the condition of extreme thrombocytosis (>1000 × 109/L) and bleeding risk, the development and pathogenesis of acquired von Willebrand syndrome, and the clinical approach to this paradoxical scenario in ET.

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Essential thrombocythaemia with mutation inMPL: clinicopathological correlation and comparison withJAK2V617F-mutated andCALR-mutated genotypes

Abstract: and ET genotypes share clinical and histological characteristics. In contrast to genotype, features of prefibrotic myelofibrosis are uncommon in -mutated ET.

Cited by 13 publications

References 24 publications

MPL-mutated essential thrombocythemia: a morphologic reappraisal

MPL-mutated essential thrombocythemia: a morphologic reappraisal

Digital PCR in Myeloid Malignancies: Ready to Replace Quantitative PCR?

Essential Thrombocythemia and Acquired von Willebrand Syndrome: The Shadowlands between Thrombosis and Bleeding

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