Dyserythropoiesis in the diagnosis of the myelodysplastic syndromes and other myeloid neoplasms: problem areas

Abstract

An evaluation of the significance of specified dyserythropoietic features in suspected myelodysplastic syndrome (MDS) and acute myeloid leukaemia with erythroid dysplasia was made by means of evaluation of 100 electronic images of bone marrow erythroblasts from each of 20 subjects: 11 with a myeloid neoplasm, six with another condition that could cause erythroid dysplasia and three healthy controls. The evaluation was carried out independently by seven experienced haematologists/haematopathologists who were blinded to the diagnosis. The majority of the dyserythropoietic features listed in the World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues were validated, although karyorrhexis was found to be infrequent and lacking in specificity; multinuclearity and megaloblastosis were more often observed but also lacked specificity. Good majority agreement on the identification of dysplastic features was obtained. Despite this, it was demonstrated that a reliable diagnosis of MDS can often not be made on the basis of erythroid morphology alone. Interpretation of dyserythropoiesis must be carried out with full knowledge of other clinicopathological features and with a constant awareness of the other conditions that can be confused with MDS. An iron stain is essential, as cases with ring sideroblasts may otherwise not be recognised as having MDS.

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein

“…Case 2 (B-II.1) was initially suspected of suffering from CDA type II, since he presented normocytic anemia and non-specific morphological erythroblast features, such as the presence of bi- and multi-nuclearity, megaloblastic changes, but no inter-nuclear bridges. Of note, among syndromes showing dyserythropoiesis, there is not a full concordance between experienced hematologists in recognition of these features (Goasguen et al, 2018). Indeed, accurate molecular screening remains the most reliable diagnosis for these patients.…”

The role of eosinophil morphology in distinguishing between reactive eosinophilia and eosinophilia as a feature of a myeloid neoplasm

“…The detection of neutrophil and megakaryocyte dysplasia 1 has an important role in the diagnosis and classification of haematological neoplasms, particularly in the diagnosis of myelodysplastic syndromes and in the recognition of acute myeloid leukaemia (AML) with myelodysplasia‐related changes. The detection of dyserythropoiesis can also be important as long as cases with erythroid dysplasia that is not the result of a haematological neoplasm are recognised 2 . The significance of morphological abnormalities of eosinophils is much less understood.…”

Bone marrow dyspoiesis associated with severe refractory anaemia in liver cirrhosis

“…Dyspoiesis was considered if >5% of the precursor cells of any of the three lineages showed dyspoietic changes-dyserythropoietic features such as nuclear budding, internuclear bridging, nuclear membrane irregularity, bilobulation or multilobulation of the nucleus of erythroid cells, nuclear fragmentation, karyorhexis and uneven distribution of chromatin. Dysmegakaryopoiesis was assessed by counting 30 megakaryocytes showing features such as monolobulated megakaryocytes, abnormal hypogranulation and multiple widely separated nuclei 8. Dysmyelopoietic features such as hypogranulation of neutrophils, nuclear hyposegmentation (pseudo Pelger-Huet), nuclear hypersegmentation, and maturation arrest at myelocyte stage and presence of Auer rods were considered.…”