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Myelodysplastic Syndromes
Published in Wojciech Gorczyca, Atlas of Differential Diagnosis in Neoplastic Hematopathology, 2014
Della Porta et al. [58] developed a quantitative FC approach to identify sideroblastic anemia by analyzing the expression of CD71, CD105, cytosolic H-ferritin, cytosolic L-ferritin, and mitochondrial ferritin in erythroblasts. Compared with pathologic and healthy controls, MDS patients had higher expression of cytosolic H-ferritin and CD105, and lower expression of CD71 [58]. Mitochondrial ferritin was specifically detected in MDS with ring sideroblasts, and there was a close relationship between its expression and Prussian blue staining. This FC approach provided an accurate quantitative evaluation of erythroid dysplasia and allowed a reliable diagnosis of sideroblastic anemia [58].
Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype
Published in Pediatric Hematology and Oncology, 2023
Hamad Mohammed Alghanim, Mohamed Eltawel, Abdulmajeed Ibrahim Alhaidari, Muhannad Mohammed Alobaid, Areej Mofareh Moghairi, Fahad Sufiani, Naveed Ahmad
He was offered appointment in surveillance clinic because of his genetic predisposition to cancers but was next seen in accident and emergency department of our hospital at 18 months of age with a short history of fever, malaise and pallor. He was found to have significant normochromic normocytic anemia with some Pseudo Pelger-Huet neutrophils on peripheral smear examination. Bone marrow biopsy and aspirate revealed significant megakaryocytic and erythroid dysplasia of >10% and moderate granulocytic dysplasia (Figure 2). Blasts were <5% in the bone marrow sample. A diagnosis of childhood myelodysplatic syndrome - refractory cytopenia of childhood (RCC) was established based on bone marrow results. Flourescence in situ hybridization (FISH) on bone marrow sample revealed two deletions involving 5q31 and 7q31 regions, in 22% and 53% of analyzed bone marrow cells. His chromosome breakage studies on peripheral blood lymphocytes showed evidence of FA on diepoxybutae (DEB) stress assay, where number of chromosomal breaks detected were in the affected range of >0.7 breaks/cell at 0.1 µg/ml DEB.
ETV6-related thrombocytopenia and platelet dysfunction
Published in Platelets, 2021
Jorge Di Paola, Marlie H. Fisher
Recently, it has been reported that autosomal dominant variants in ETV6 lead to mild thrombocytopenia with bleeding diathesis, red cell macrocytosis, and predisposition to hematologic malignancies (30.2% risk overall), with B-cell acute lymphoblastic leukemia (B-ALL) being the most common [16–19]. The mechanisms responsible for thrombocytopenia and propensity for bleeding in patients with ETV6 variants remain unknown. Missense mutations in the central domain and the ETS DNA binding domain of ETV6 result in aberrant subcellular localization, decreased transcriptional repression, and impaired megakaryocyte maturation [16,17]. Several families carrying these germline mutations have been described, with the overwhelming majority demonstrating heterozygous single-nucleotide changes in the ETS DNA binding domain [19]. Five families have been identified with a heterozygous single-nucleotide modification in the central domain of ETV6, c.641C>T, encoding a p.Pro214Leu substitution [19]. Deletions have also been described, which have been shown to result in protein truncation as a consequence of alternate splicing [20,21]. The bone marrow of these affected individuals shows erythroid dysplasia and hyperplasia of small, hypolobulated, immature megakaryocytes, suggesting incomplete differentiation and inability to release platelets into circulation [16].
Low- and intermediate-risk myelodysplastic syndrome with pure red cell aplasia
Published in Hematology, 2021
Huaquan Wang, Haiyue Niu, Tian Zhang, Limin Xing, Zonghong Shao, Rong Fu
Pure red cell aplasia (PRCA) is a rare bone marrow failure syndrome only involving erythrocytes. Its clinical features include severe anemia, reduced reticulocytes, absence or severe reduction of bone marrow erythroid precursors, and normal white blood cells and platelets [1]. Myelodysplastic syndrome (MDS) is a group of heterogeneous malignant clonal hematopoietic stem cell diseases, with dysplasia in one or multiple lineage of myeloid blood cells, ineffective hematopoiesis, and high risk of transformation to acute myeloid leukemia (AML) [2]. Erythroid dysplasia is one of the distinctive features of MDS. Absence or extreme reduction of erythroid precursors is a rare form of erythroid dysplasia. A very small number of patients with MDS onset in the form of PRCA [3]. The differential diagnosis of low- and intermediate-risk MDS and PRCA is very difficult, especially for MDS without blasts.