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Our report highlights the importance of necroscopy of stillbirths for the recognition of DS and diagnosis of TAM/AMkL, even in apparently normal pregnancies. Transient abnormal myelopoiesis (TAM), which develops in 10% to 20% of DS infants, is recognized as an obligate step toward AMkL in DS [[1]]. Down syndrome (DS) is the most common chromosomopathy in humans, usually caused by constitutional trisomy 21. TAM and AMkL in DS share the presence of somatic truncating variants in the erythroid-megakaryocyte transcription factor gene I GATA1 i (OMIM *305371). [Extracted from the article]

Systemic mastocytosis (SM) is a clinically heterogeneous disorder, characterized by the infiltration of various organs by morphologically, immunophenotypically, and genetically abnormal mast-cells (MC). SM is currently sub-classified into six different categories according to clinical features and aggressiveness (i.e. indolent SM, bone marrow SM, smoldering SM, SM with an associated hematological neoplasm (AHN), aggressive SM, and mast-cell sarcoma) [[1]]. The restriction of SM proliferation to the BM induced us to initially consider a diagnosis of bone marrow mastocytosis (i.e. mastocytosis with isolated involvement of the bone marrow). However, giving the coexistence of lymphoma and SM, we found that the patients actually fulfilled the current WHO criteria for SM-AHN, the second most common subgroup of SM [[1]]. [Extracted from the article]

In myelodysplastic syndrome (MDS), vascular endothelial growth factor (VEGF) may have regulatory effects on the hematopoietic system and contribute to disease progression. We analyzed by immunocytochemistry VEGF expression in bone marrow (BM) cells from 188 patients with MDS and 96 non-hemopathic subjects. We also measured VEGF BM plasma levels andin vitroVEGF release. Our aims were to evaluate whether VEGF expression abnormalities were associated with relevant laboratory or clinical findings and their possible prognostic value. In MDS, VEGF expression was higher than in controls (p < .0001) and VEGF release was significantly higher in the low-risk cases. A trend to a positive correlation between VEGF myeloid expression and apoptotic rate was observed. High myeloid VEGF levels were independently associated with longer overall survival (p < .0001) and progression-free survival (p = .0002). Our findings suggest that, in MDS, VEGF production and release may contribute to ineffective hematopoiesis, with a potential prognostic role. [ABSTRACT FROM PUBLISHER]