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13 pages, 1700 KiB

Open AccessReview

When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms

by Sandrine Girard, Franck Genevieve, Emmanuelle Rault, Odile Fenneteau and Jean-François Lesesve

Diagnostics 2022, 12(7), 1752; https://doi.org/10.3390/diagnostics12071752 - 20 Jul 2022

Cited by 3 | Viewed by 3222

Abstract

Ring sideroblasts are commonly seen in myelodysplastic neoplasms and are a key condition for identifying distinct entities of myelodysplastic neoplasms according to the WHO classification. However, the presence of ring sideroblasts is not exclusive to myelodysplastic neoplasms. Ring sideroblasts are as well either [...] Read more.

Ring sideroblasts are commonly seen in myelodysplastic neoplasms and are a key condition for identifying distinct entities of myelodysplastic neoplasms according to the WHO classification. However, the presence of ring sideroblasts is not exclusive to myelodysplastic neoplasms. Ring sideroblasts are as well either encountered in non-clonal secondary acquired disorders, such as exposure to toxic substances, drug/medicine, copper deficiency, zinc overload, lead poison, or hereditary sideroblastic anemias related to X-linked, autosomal, or mitochondrial mutations. This review article will discuss diseases associated with ring sideroblasts outside the context of myelodysplastic neoplasms. Knowledge of the differential diagnoses characterized by the presence of ring sideroblasts in bone marrow is essential to prevent any misdiagnosis, which leads to delayed diagnosis and subsequent management of patients that differ in the different forms of sideroblastic anemia. Full article

(This article belongs to the Special Issue Myelodysplastic Syndrome: Diagnosis and Screening)

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20 pages, 1176 KiB

Open AccessReview

Diagnosis of Myelodysplastic Syndromes: From Immunological Observations to Clinical Applications

by Yannick Simoni and Nicolas Chapuis

Diagnostics 2022, 12(7), 1659; https://doi.org/10.3390/diagnostics12071659 - 7 Jul 2022

Cited by 2 | Viewed by 2851

Abstract

Myelodysplastic syndromes (MDS) constitute a very heterogeneous group of diseases with a high prevalence in elderly patients and a propensity for progression to acute myeloid leukemia. The complexity of these hematopoietic malignancies is revealed by the multiple recurrent somatic mutations involved in MDS [...] Read more.

Myelodysplastic syndromes (MDS) constitute a very heterogeneous group of diseases with a high prevalence in elderly patients and a propensity for progression to acute myeloid leukemia. The complexity of these hematopoietic malignancies is revealed by the multiple recurrent somatic mutations involved in MDS pathogenesis and the paradoxical common phenotype observed in these patients characterized by ineffective hematopoiesis and cytopenia. In the context of population aging, the incidence of MDS will strongly increase in the future. Thus, precise diagnosis and evaluation of the progression risk of these diseases are imperative to adapt the treatment. Dysregulations of both innate and adaptive immune systems are frequently detected in MDS patients, and their critical role in MDS pathogenesis is now commonly accepted. However, different immune dysregulations and/or dysfunctions can be dynamically observed during the course of the disease. Monitoring the immune system therefore represents a new attractive tool for a more precise characterization of MDS at diagnosis and for identifying patients who may benefit from immunotherapy. We review here the current knowledge of the critical role of immune dysfunctions in both MDS and MDS precursor conditions and discuss the opportunities offered by the detection of these dysregulations for patient stratification. Full article

(This article belongs to the Special Issue Myelodysplastic Syndrome: Diagnosis and Screening)

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18 pages, 889 KiB

Open AccessReview

Cytogenetic and Genetic Abnormalities with Diagnostic Value in Myelodysplastic Syndromes (MDS): Focus on the Pre-Messenger RNA Splicing Process

by Nathalie Douet-Guilbert, Benoît Soubise, Delphine G. Bernard and Marie-Bérengère Troadec

Diagnostics 2022, 12(7), 1658; https://doi.org/10.3390/diagnostics12071658 - 7 Jul 2022

Cited by 5 | Viewed by 3335

Abstract

Myelodysplastic syndromes (MDS) are considered to be diseases associated with splicing defects. A large number of genes involved in the pre-messenger RNA splicing process are mutated in MDS. Deletion of 5q and 7q are of diagnostic value, and those chromosome regions bear the [...] Read more.

Myelodysplastic syndromes (MDS) are considered to be diseases associated with splicing defects. A large number of genes involved in the pre-messenger RNA splicing process are mutated in MDS. Deletion of 5q and 7q are of diagnostic value, and those chromosome regions bear the numbers of splicing genes potentially deleted in del(5q) and del(7q)/-7 MDS. In this review, we present the splicing genes already known or suspected to be implicated in MDS pathogenesis. First, we focus on the splicing genes located on chromosome 5 (HNRNPA0, RBM27, RBM22, SLU7, DDX41), chromosome 7 (LUC7L2), and on the SF3B1 gene since both chromosome aberrations and the SF3B1 mutation are the only genetic abnormalities in splicing genes with clear diagnostic values. Then, we present and discuss other splicing genes that are showing a prognostic interest (SRSF2, U2AF1, ZRSR2, U2AF2, and PRPF8). Finally, we discuss the haploinsufficiency of splicing genes, especially from chromosomes 5 and 7, the important amplifier process of splicing defects, and the cumulative and synergistic effect of splicing genes defects in the MDS pathogenesis. At the time, when many authors suggest including the sequencing of some splicing genes to improve the diagnosis and the prognosis of MDS, a better understanding of these cooperative defects is needed. Full article

(This article belongs to the Special Issue Myelodysplastic Syndrome: Diagnosis and Screening)

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13 pages, 1242 KiB

Open AccessReview

The Mesenchymal Niche in Myelodysplastic Syndromes

by Chloé Friedrich and Olivier Kosmider

Diagnostics 2022, 12(7), 1639; https://doi.org/10.3390/diagnostics12071639 - 5 Jul 2022

Cited by 2 | Viewed by 2161

Abstract

Myelodysplastic syndromes (MDSs) are clonal disorders characterized by ineffective hematopoiesis, resulting in cytopenias and a risk of developing acute myeloid leukemia. In addition to mutations affecting hematopoietic stem cells (HSCs), numerous studies have highlighted the role of the bone marrow microenvironment (BMME) in [...] Read more.

Myelodysplastic syndromes (MDSs) are clonal disorders characterized by ineffective hematopoiesis, resulting in cytopenias and a risk of developing acute myeloid leukemia. In addition to mutations affecting hematopoietic stem cells (HSCs), numerous studies have highlighted the role of the bone marrow microenvironment (BMME) in the development of MDSs. The mesenchymal niche represents a key component of the BMME. In this review, we discuss the role of the mesenchymal niche in the pathophysiology of MDS and provide an overview of currently available in vitro and in vivo models that can be used to study the effects of the mesenchymal niche on HSCs. Full article

(This article belongs to the Special Issue Myelodysplastic Syndrome: Diagnosis and Screening)

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8 pages, 706 KiB

Open AccessReview

VEXAS Syndrome: A Novelty in MDS Landscape

by Marie Templé and Olivier Kosmider

Diagnostics 2022, 12(7), 1590; https://doi.org/10.3390/diagnostics12071590 - 29 Jun 2022

Cited by 23 | Viewed by 4046

Abstract

Fever, inflammation and vacuoles in hematopoietic cells represent the main features associated with VEXAS syndrome, a new prototype of autoinflammatory disorders genetically characterized by somatic mutation of the UBA1 gene which encodes the enzyme1-activating enzyme (E1) required for ubiquitin signaling. Described very recently, [...] Read more.

Fever, inflammation and vacuoles in hematopoietic cells represent the main features associated with VEXAS syndrome, a new prototype of autoinflammatory disorders genetically characterized by somatic mutation of the UBA1 gene which encodes the enzyme1-activating enzyme (E1) required for ubiquitin signaling. Described very recently, patients with VEXAS syndrome present a systemic autoinflammatory syndrome associated with hematological impairments, especially cytopenias whose pathophysiology is mainly non-elucidated. Initially diagnosed in elderly male patients, VEXAS syndrome was frequently associated with a diagnosis of myelodysplastic syndromes (MDS) leading the medical community to first consider VEXAS syndrome as a new subtype of MDS. However, since the first description of VEXAS patients in 2021, it appears from the multitude of case reports that MDS associated with VEXAS are different from the classically described MDS. Full article

(This article belongs to the Special Issue Myelodysplastic Syndrome: Diagnosis and Screening)

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23 pages, 3652 KiB

Open AccessReview

Myelodysplastic Syndrome: Diagnosis and Screening

by Francisco P. Tria IV, Daphne C. Ang and Guang Fan

Diagnostics 2022, 12(7), 1581; https://doi.org/10.3390/diagnostics12071581 - 29 Jun 2022

Cited by 8 | Viewed by 3673

Abstract

Myelodysplastic syndromes (MDS) are heterogeneous groups of clonal myeloid disorders characterized by unexplained persistent peripheral blood (PB) cytopenia(s) of one or more of the hematopoietic lineages, or bone marrow (BM) morphologic dysplasia in hematopoietic cells, recurrent genetic abnormalities, and an increased risk of [...] Read more.

Myelodysplastic syndromes (MDS) are heterogeneous groups of clonal myeloid disorders characterized by unexplained persistent peripheral blood (PB) cytopenia(s) of one or more of the hematopoietic lineages, or bone marrow (BM) morphologic dysplasia in hematopoietic cells, recurrent genetic abnormalities, and an increased risk of progression to acute myeloid leukemia (AML). In the past several years, diagnostic, prognostic, and therapeutic approaches have substantially improved with the development of Next Generation Sequencing (NGS) diagnostic testing and new medications. However, there is no single diagnostic parameter specific for MDS, and correlations with clinical information, and laboratory test findings are needed to reach the diagnosis. Full article

(This article belongs to the Special Issue Myelodysplastic Syndrome: Diagnosis and Screening)

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11 pages, 3672 KiB

Open AccessReview

Automated Detection of Dysplasia: Data Mining from Our Hematology Analyzers

by Jaja Zhu, Sylvain Clauser, Nicolas Freynet and Valérie Bardet

Diagnostics 2022, 12(7), 1556; https://doi.org/10.3390/diagnostics12071556 - 26 Jun 2022

Cited by 6 | Viewed by 2576

Abstract

Myelodysplastic syndromes (MDSs) are clonal hematopoietic diseases of the elderly, characterized by chronic cytopenia, ineffective and dysplastic hematopoiesis, recurrent genetic abnormalities and increased risk of progression to acute myeloid leukemia. Diagnosis on a complete blood count (CBC) can be challenging due to numerous [...] Read more.

Myelodysplastic syndromes (MDSs) are clonal hematopoietic diseases of the elderly, characterized by chronic cytopenia, ineffective and dysplastic hematopoiesis, recurrent genetic abnormalities and increased risk of progression to acute myeloid leukemia. Diagnosis on a complete blood count (CBC) can be challenging due to numerous other non-neoplastic causes of cytopenias. New generations of hematology analyzers provide cell population data (CPD) that can be exploited to reliably detect MDSs from a routine CBC. In this review, we first describe the different technologies used to obtain CPD. We then give an overview of the currently available data regarding the performance of CPD for each lineage in the diagnostic workup of MDSs. Adequate exploitation of CPD can yield very strong diagnostic performances allowing for faster diagnosis and reduction of time-consuming slide reviews in the hematology laboratory. Full article

(This article belongs to the Special Issue Myelodysplastic Syndrome: Diagnosis and Screening)

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Other

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10 pages, 2151 KiB

Open AccessGuidelines

Perls’ Stain Guidelines from the French-Speaking Cellular Hematology Group (GFHC)

by Camille Lours, Laurane Cottin, Margaux Wiber, Valérie Andrieu, Véronique Baccini, Lucile Baseggio, Chantal Brouzes, Bernard Chatelain, Sylvie Daliphard, Odile Fenneteau, Franck Geneviève, Sandrine Girard, Vincent Leymarie, Karim Maloum, Jean-Baptiste Rieu, Gérard Sebahoun, Isabelle Sudaka, Xavier Troussard, Orianne Wagner-Ballon, Soraya Wuilleme, Valérie Bardet and Jean-François Lesesve Show full author list Hide full author list

Diagnostics 2022, 12(7), 1698; https://doi.org/10.3390/diagnostics12071698 - 12 Jul 2022

Cited by 1 | Viewed by 2465

Abstract

In order to standardize cellular hematology practices, the French-speaking Cellular Hematology Group (Groupe Francophone d’Hématologie Cellulaire, GFHC) focused on Perls’ stain. A national survey was carried out, leading to the proposal of recommendations on insoluble iron detection and quantification in bone marrow. The [...] Read more.

In order to standardize cellular hematology practices, the French-speaking Cellular Hematology Group (Groupe Francophone d’Hématologie Cellulaire, GFHC) focused on Perls’ stain. A national survey was carried out, leading to the proposal of recommendations on insoluble iron detection and quantification in bone marrow. The criteria presented here met with a “strong professional agreement” and follow the suggestions of the World Health Organization’s classification of hematological malignancies. Full article

(This article belongs to the Special Issue Myelodysplastic Syndrome: Diagnosis and Screening)

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