The Myeloid Diseases from the Biology to the Clinic

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".

Deadline for manuscript submissions: closed (20 November 2022) | Viewed by 8171

Special Issue Editors

Unité de Neurobiologie des Canaux Ioniques et de la Synapse, Marseille, France
Interests: leukemia; molecular biology; oncology
Special Issues, Collections and Topics in MDPI journals
Hematology and Cellular Therapy Department, Conception University Hospital, Marseille, France
Interests: Myeloproliferative Neoplasm; Myelodysplastic Syndrome ; Acute Myeloid
Biochemistry and molecular biology laboratory, Nord University Hospital, 1490 Marseille, France
Interests: Myeloproliferative Neoplasm; Myelodysplasic Syndrome; Chronic myeloid leukemia; Acute Myeloid Leukemia

Special Issue Information

Dear Colleagues,

Myeloproliferative syndromes are cancers of blood. They are rare diseases that expose the patients to life threatening complications, such as deep thrombosis and hemorrhages as well as acute leukemia. Individuals with these myeloproliferative syndromes were classified by the World Health Organization in 2016 according to their molecular status as BRC-ABL-positive or BRC-ABL-negative patients. BRC-ABL-positive patients. These patients have chronic myeloid leukemia (CML), and the majority can be treated with new drugs such as tyrosine-kinase inhibitors.

BCR-ABL-negative patients may experience:

Essential thrombocythemia (ET)

Primitive polyglobuly

Primitive myelofibrosis

These are also very rare diseases.

For years these have been diagnoses of elimination. Recently molecular studies have shown that 90% of these patients have a mutation in one of three genes: jak2, MPL, and Calreticulin. Some challenges remain: we do not currently know the cause of these acquired mutations, nor why the jak2 mutation V617F is at the origin of three diseases.

In this Special Issue we will focus on the latest molecular data (by PCR and NGS) as well as the hematological and clinical points of view.

Prof. Dr. Jean Gabert
Dr. Geoffroy Venton
Dr. Norman Abbou
Guest Editors

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Published Papers (3 papers)

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Review

23 pages, 4867 KiB  
Review
Cytological Diagnosis of Classic Myeloproliferative Neoplasms at the Age of Molecular Biology
by Sophie Combaluzier, Julie Quessada, Norman Abbou, Robin Arcani, Antoine Tichadou, Jean Gabert, Régis Costello, Marie Loosveld, Geoffroy Venton and Yaël Berda-Haddad
Cells 2023, 12(6), 946; https://doi.org/10.3390/cells12060946 - 20 Mar 2023
Cited by 2 | Viewed by 2357
Abstract
Myeloproliferative neoplasms (MPN) are clonal hematopoietic stem cell-derived disorders characterized by uncontrolled proliferation of differentiated myeloid cells. Two main groups of MPN, BCR::ABL1-positive (Chronic Myeloid Leukemia) and BCR::ABL1-negative (Polycythemia Vera, Essential Thrombocytosis, Primary Myelofibrosis) are distinguished. For many years, cytomorphologic and [...] Read more.
Myeloproliferative neoplasms (MPN) are clonal hematopoietic stem cell-derived disorders characterized by uncontrolled proliferation of differentiated myeloid cells. Two main groups of MPN, BCR::ABL1-positive (Chronic Myeloid Leukemia) and BCR::ABL1-negative (Polycythemia Vera, Essential Thrombocytosis, Primary Myelofibrosis) are distinguished. For many years, cytomorphologic and histologic features were the only proof of MPN and attempted to distinguish the different entities of the subgroup BCR::ABL1-negative MPN. World Health Organization (WHO) classification of myeloid neoplasms evolves over the years and increasingly considers molecular abnormalities to prove the clonal hematopoiesis. In addition to morphological clues, the detection of JAK2, MPL and CALR mutations are considered driver events belonging to the major diagnostic criteria of BCR::ABL1-negative MPN. This highlights the preponderant place of molecular features in the MPN diagnosis. Moreover, the advent of next-generation sequencing (NGS) allowed the identification of additional somatic mutations involved in clonal hematopoiesis and playing a role in the prognosis of MPN. Nowadays, careful cytomorphology and molecular biology are inseparable and complementary to provide a specific diagnosis and to permit the best follow-up of these diseases. Full article
(This article belongs to the Special Issue The Myeloid Diseases from the Biology to the Clinic)
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12 pages, 935 KiB  
Review
Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm
by Norman Abbou, Pauline Piazzola, Jean Gabert, Vincent Ernest, Robin Arcani, Anne-Laure Couderc, Antoine Tichadou, Pauline Roche, Laure Farnault, Julien Colle, L’houcine Ouafik, Pierre Morange, Régis Costello and Geoffroy Venton
Cells 2023, 12(1), 105; https://doi.org/10.3390/cells12010105 - 27 Dec 2022
Cited by 3 | Viewed by 2056
Abstract
BCR::ABL1-negative myeloproliferative neoplasms (MPNs) include three major subgroups—polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)—which are characterized by aberrant hematopoietic proliferation with an increased risk of leukemic transformation. Besides the driver mutations, which are JAK2, CALR, and MPL, more [...] Read more.
BCR::ABL1-negative myeloproliferative neoplasms (MPNs) include three major subgroups—polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)—which are characterized by aberrant hematopoietic proliferation with an increased risk of leukemic transformation. Besides the driver mutations, which are JAK2, CALR, and MPL, more than twenty additional mutations have been identified through the use of next-generation sequencing (NGS), which can be involved with pathways that regulate epigenetic modifications, RNA splicing, or DNA repair. The aim of this short review is to highlight the impact of molecular biology on the diagnosis, prognosis, and therapeutic management of patients with PV, ET, and PMF. Full article
(This article belongs to the Special Issue The Myeloid Diseases from the Biology to the Clinic)
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10 pages, 640 KiB  
Review
Lysine-Specific Demethylase 1 (LSD1/KDM1A) Inhibition as a Target for Disease Modification in Myelofibrosis
by Harinder Gill
Cells 2022, 11(13), 2107; https://doi.org/10.3390/cells11132107 - 03 Jul 2022
Cited by 6 | Viewed by 3024 | Correction
Abstract
Myelofibrosis (MF) is the most symptomatic form of myeloproliferative neoplasm and carries the worst outcome. Allogeneic hematopoietic stem cell transplantation is the only therapy with potential for cure at present, but is limited by significant mortality and morbidity. JAK inhibition is the mainstay [...] Read more.
Myelofibrosis (MF) is the most symptomatic form of myeloproliferative neoplasm and carries the worst outcome. Allogeneic hematopoietic stem cell transplantation is the only therapy with potential for cure at present, but is limited by significant mortality and morbidity. JAK inhibition is the mainstay of treatment for intermediate- and high-risk MF. Ruxolitinib is the most widely used JAK1/2 inhibitor and provides durable effects in controlling symptom burden and spleen volumes. Nevertheless, ruxolitinib may not adequately address the underlying disease biology. Its effects on mutant allele burden, bone marrow fibrosis, and the prevention of leukemic transformation are minimal. Multiple small molecules are being tested in multiple phase 2 and 3 studies as either monotherapy or in combination with JAK2 inhibitors. In this review, the role of LSD1/KDM1A inhibition as a potential disease-modification strategy in patients with myelofibrosis is described and discussed. Full article
(This article belongs to the Special Issue The Myeloid Diseases from the Biology to the Clinic)
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