Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.S204P
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MPL

NM_005373.3:p.S204P

Associated Papers

Clinical characteristics and whole exome sequencing in JAK2V617F- and CALR-unmutated essential thrombocythemia.

Thammayot S et al.

Hematology (amsterdam, Netherlands), 2026

Non-MPL-W515K/L mutations in myeloproliferative neoplasms: Insights from two case reports and a review of the literature.

Tønne Nesse AS et al.

Expert Review of Hematology, 2025

Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.

Marshall CH et al.

Cancers, 2025

40361359 (PubMed )
Supplement: cancers-17-01432-s001.zip › cancers-3524691-supplementary.xlsx › Sheet1

Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia.

Mosnier C et al.

Blood Advances, 2025

39820709 (PubMed )
Supplement: BLOODA_ADV-2024-014791-mmc1.pdf

Clinical laboratory characteristics and gene mutation spectrum of Ph-negative MPN patients with atypical variants of JAK2, MPL, or CALR.

Wang Z et al.

Cancer Medicine, 2024

Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations.

Wang J et al.

Platelets, 2023

Expanded molecular detection of MPL codon p.W515 and p.S505N mutations in myeloproliferative neoplasms.

Miller EW et al.

Journal of Clinical Laboratory Analysis, 2023

Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms.

Morishita S et al.

International Journal of Molecular Sciences, 2023

37629188 (PubMed )
Supplement: ijms-24-13008-s001.zip › ijms-2555672-supplementary.pdf

Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.

Garrote M et al.

Cancers, 2023

Identification of putative noncanonical driver mutations in patients with essential thrombocythemia.

Arai A et al.

European Journal of Haematology, 2023

Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.

Lemoine S et al.

Haematologica, 2022

35833299 (PubMed )
Supplement: 2022_280917_LEMOINE_SUPPL.pdf

Molecular characterization of triple-negative myeloproliferative neoplasms by next-generation sequencing.

Maddali M et al.

Annals of Hematology, 2022

Study of CALR, MPL, and c-kit Gene Mutations in Thai Patients with JAK2 V617F Negative Myeloproliferative Neoplasms.

Wiriyaukaradecha K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2022

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Cheng CK et al.

Ejhaem, 2022

35846205 (PubMed )
Supplement: JHA2-3-184-s002.xlsx › All_MPN_cases

Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.

Easwar A et al.

Life (basel, Switzerland), 2021

Recent Advances in Molecular Diagnostics and Targeted Therapy of Myeloproliferative Neoplasms.

Stivala S et al.

Cancers, 2021

Cell-autonomous megakaryopoiesis associated with polyclonal hematopoiesis in triple-negative essential thrombocythemia.

Inano T et al.

Scientific Reports, 2021

Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Stockklausner C et al.

Annals of Hematology, 2021

Novel drivers and modifiers of MPL-dependent oncogenic transformation identified by deep mutational scanning.

Bridgford JL et al.

Blood, 2020

Concomitant and noncanonical JAK2 and MPL mutations in JAK2V617F- and MPLW515 L-positive myelofibrosis.

Schulze S et al.

Genes, Chromosomes & Cancer, 2019

Diagnostic and prognostic contribution of targeted NGS in patients with triple-negative myeloproliferative neoplasms.

Acha P et al.

American Journal of Hematology, 2019

Philadelphia-Negative Myeloproliferative Neoplasms: Laboratory Workup in the Era of Next-Generation Sequencing.

Zuo Z et al.

Current Hematologic Malignancy Reports, 2019

Two activating mutations of MPL in triple-negative myeloproliferative neoplasms.

Xie J et al.

Cancer Medicine, 2019

MPL Y252H anMd PL F126fs mutations in essential thrombocythemia: Case series and review of literature.

Elsayed AG et al.

Hematology Reports, 2019

The Role of New Technologies in Myeloproliferative Neoplasms.

Palumbo GA et al.

Frontiers in Oncology, 2019

Essential thrombocythaemia with mutation in MPL: clinicopathological correlation and comparison with JAK2V617F-mutated and CALR-mutated genotypes.

Alvarez-Larran A et al.

Journal of Clinical Pathology, 2018

Classification and Personalized Prognosis in Myeloproliferative Neoplasms.

Grinfeld J et al.

The New England Journal of Medicine, 2018

Myeloproliferative neoplasms: from origins to outcomes.

Nangalia J et al.

Blood, 2017

Mutations in myeloproliferative neoplasms - their significance and clinical use.

Schischlik F et al.

Expert Review of Hematology, 2017

A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative.

Pishvaian MJ et al.

Oncotarget, 2017

29137355 (PubMed )
Supplement: oncotarget-08-83446-s002.xlsx › Table_S2

Recommendations for molecular testing in classical Ph1-neg myeloproliferative disorders-A consensus project of the Italian Society of Hematology.

Guglielmelli P et al.

Leukemia Research, 2017

Targeted next-generation sequencing identified novel mutations in triple-negative myeloproliferative neoplasms.

Chang YC et al.

Medical Oncology (northwood, London, England), 2017

JAK2 exon 12 mutation-positive myeloproliferative neoplasm associated with recurrent thromboembolism.

Tavakoli V et al.

Blood Research, 2017

Molecular determinants of pathogenesis and clinical phenotype in myeloproliferative neoplasms.

Grinfeld J et al.

Haematologica, 2017

Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.

Plo I et al.

Frontiers in Endocrinology, 2017

Molecular characterisation of triple negative essential thrombocythaemia patients by platelet analysis and targeted sequencing.

Angona A et al.

Blood Cancer Journal, 2016

Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms.

Milosevic Feenstra JD et al.

Blood, 2016

Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients.

Cabagnols X et al.

Blood, 2016

Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: a report of the Association for Molecular Pathology.

Gong JZ et al.

The Journal of Molecular Diagnostics : Jmd, 2013

Different mutations of the human c-mpl gene indicate distinct haematopoietic diseases.

He X et al.

Journal of Hematology & Oncology, 2013

Do we know more about essential thrombocythemia because of JAK2V617F?

Harrison C

Current Hematologic Malignancy Reports, 2009

Thrombocytosis.

Skoda RC

Hematology. American Society of Hematology. Education Program, 2009

New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.

Chaligné R et al.

Leukemia, 2008

Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal.

Vannucchi AM et al.

Leukemia, 2008

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