Making sense of the myelodysplastic/myeloproliferative neoplasms overlap syndromes

  title={Making sense of the myelodysplastic/myeloproliferative neoplasms overlap syndromes},
  author={Ramon Velasquez Tiu and Mikkael A. Sekeres},
  journal={Current Opinion in Hematology},
Purpose of reviewMyelodysplastic/myeloproliferative neoplasms (MDS/MPNs), including chronic myelomonocytic leukemia, atypical chronic myeloid leukemia, MDS/MPN-Unclassifiable, ring sideroblasts associated with marked thrombocytosis, and juvenile myelomonocytic leukemia, are clonal hematologic diseases characterized by myeloid dysplasia, proliferation, and absence of the molecular lesions BCR/ABL, PDGFRA, PDGFRB, and FGFR1. There are currently no US Food and Drug Administration approved… Expand
Clinical management of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes
The myelodysplastic/myeloproliferative neoplasms (MDS/MPNs) are a unique group of hematologic malignancies characterized by concomitant myelotransformation and mutational profiles that support their distinct biology and is anticipated to soon play an integral role in diagnosis, prognostication, and treatment. Expand
Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable
  • K. Zoi, N. Cross
  • Biology, Medicine
  • International Journal of Hematology
  • 2014
The various combinations of mutations indicate a multi-step pathogenesis, which likely contributes to the marked clinical heterogeneity of these disorders and the delineation of complex clonal architectures may serve as the cornerstone for the identification of novel therapeutic targets and lead to better patient outcomes. Expand
How I treat atypical chronic myeloid leukemia.
Allogeneic hematopoietic stem cell transplantation should always be an initial consideration for eligible patients with a suitable donor, because of the challenges of aCML. Expand
Atypical CML- the role of morphology and precision genomics.
  • T. Lasho
  • Medicine
  • Best practice & research. Clinical haematology
  • 2020
This review will address what the authors know about atypical chronic myeloid leukemia; evaluate how the molecular landscape in myeloids malignancies overlaps; and discuss what they can learn by incorporating individualized precision genomic strategies. Expand
Atypical chronic myeloid leukemia: a rare entity with management challenges.
Hematopoietic stem cell transplant may be the only curative option and Ruxolitinib and dasatinib are emerging therapeutic options. Expand
Myeloproliferative neoplasms: Morphology and clinical practice
In myeloproliferative neoplasms (MPNs), controversy persists regarding the usefulness and reproducibility of bone marrow features and under‐diagnosis of morphologically and biologically consistent PV is revealed. Expand
Routine blood examinations combined with morphological analysis for the diagnosis of myelodysplastic/myeloproliferative neoplasms.
It is demonstrated that combining blood routine parameters and the morphological analysis of peripheral blood cells have an essential role in the reliable diagnosis of MDS/MPN based on WHO categories. Expand
Durable Disease Control with MEK Inhibition in a Patient with NRAS-mutated Atypical Chronic Myeloid Leukemia
The need for clinical trials evaluating the safety and efficacy of MEK1/2 as a therapeutic target for the treatment of patients with NRAS-mutated aCML/CNL is highlighted. Expand
A rare atypical chronic myeloid leukemia BCR-ABL1 negative with concomitant JAK2 V617F and SETBP1 mutations: a case report and literature review
Atypical chronic myeloid leukemia (aCML) BCR-ABL1 negative is a rare myelodysplastic syndromes/myeloproliferative neoplasm (MDS/MPN) for which no standard treatment currently exists, and targeted therapy for mutated JAK2 may benefit patients. Expand
Molecular Pathogenesis of BCR-ABL-Negative Atypical Chronic Myeloid Leukemia
Atypical chronic myeloid leukemia is a rare disease whose pathogenesis has long been debated. It currently belongs to the group of myelodysplastic/myeloproliferative disorders. In this review, anExpand


The myelodysplastic/myeloproliferative neoplasms: myeloproliferative diseases with dysplastic features
The current ‘spotlight’ review provides practical guidelines, which should allow for a reproducible classification of these uncommon neoplasms when encountered in clinical practice, and is being replaced by ‘MDS/MPN’ that will be used in this review. Expand
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes
Study of chronic myelomonocytic leukemia samples using Agilent high density array-comparative genomic hybridization (aCGH) and sequencing of 12 candidate genes detected RAS pathway mutations and RUNX1 alterations. Expand
Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: novel pathogenetic lesions.
Various combinations of mutations suggest a multistep pathogenesis and may account for clinical heterogeneity, and the prognostic and diagnostic significance of these molecular lesions, in particular their value as biomarkers of response or resistance to specific therapies, while uncertain now is likely to be clarified as large systematic studies come to completion. Expand
Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML.
BACKGROUND The molecular causes of many hematologic cancers remain unclear. Among these cancers are chronic neutrophilic leukemia (CNL) and atypical (BCR-ABL1-negative) chronic myeloid leukemiaExpand
FLT3 mutations in myelodysplastic syndrome and chronic myelomonocytic leukemia
FMS‐like tyrosine kinase III (FLT3) mutations occur in myelodysplastic syndrome (MDS) and chronic myelomonocytic leukemia (CMML) at a lower frequency than AML and does not predict poor outcome. Expand
Outcome of allo-SCT for chronic myelomonocytic leukemia
12 consecutive CMML patients receiving 13 allogeneic SCT at the University of Hamburg, Germany, from January 2003 to June 2007 were retrospectively analyzed to contribute to insights in the outcome of SCT in this rare disorder. Expand
Current status of allogeneic HST for chronic myelomonocytic leukemia
Carefully selected CMML patients may have the most benefit from this curative approach as non-randomized studies suggest that long-term remissions are achievable when using myeloablative or reduced intensity conditioning transplantation. Expand
On the use of lonafarnib in myelodysplastic syndrome and chronic myelomonocytic leukemia
A decrease in the farnesylation of the HDJ-2 protein measured in patient-derived cells was observed in the majority of patients during treatment with lonafarnib, but no clear correlation between changes in farnesyation and clinical effect could be made. Expand
Essential thrombocythemia with ringed sideroblasts: a heterogeneous spectrum of diseases, but not a distinct entity.
A more accurate classification of so-called ET/RS patients is warranted by evaluation of smears and in particular bone marrow biopsy specimens and they should be classified as having either ET, CIMF or MDS and show a significantly different survival pattern. Expand
Efficacy of decitabine in the treatment of patients with chronic myelomonocytic leukemia (CMML).
The decitabine adverse event profile seen in CMML patients was similar to observations in other hematologic patient populations, with myelosuppression and related infectious complications, and suggest that studies in other myeloproliferative diseases may be warranted. Expand