No abstract

A case of myelodysplastic syndrome is reported, in which the bone marrow contained many cells with the typical light microscopic morphology of Gaucher cells. In the absence of any evidence of inherited Gaucher's disease, these cells are considered to be pseudo-Gaucher cells, which have been described previously in association with other haematological diseases. This is the first report of their occurrence in myelodysplastic syndrome. (J Clin Pathol 1999;52:917-918) Keywords: myelodysplasia; pseudo-Gaucher cells Case reportA 72 year old woman presented with a four day history of general malaise and flu-like symptoms. Examination revealed no abnormality apart from mild hypertension and an area of cellulitis on her right shoulder. She had no significant past medical history and was taking no drugs. A full blood count showed a haemoglobin concentration of 94 g/l, white cell count 7.2 × 10 9 /l, neutrophils 6.2 × 10 9 /l, platelets 78 × 10 9 /l, and MCV 84 fl. Examination of the blood film revealed mild red cell anisocytosis, but very abnormal neutrophils with abnormal nuclear segmentation, Döhle bodies, and hypogranularity (fig 1), suggesting myelodysplasia. There were no blasts in the peripheral blood.Examination of a bone marrow aspirate taken during the admission confirmed the diagnosis of myelodysplasia. The marrow was markedly hypercellular. Micromegakaryocytes were present, and many of the larger megakaryocytes showed abnormal nuclear configurations. Myelopoiesis was left shifted with marked hypogranularity. Morphologically identifiable myeloblasts accounted for 4% of nucleated cells. (Of note, however, was the presence of a significant (23%) population of CD34 positive cells on immunophenotyping.) No pathological sideroblasts were identified. On the basis of these appearances, the myelodysplasia was subclassified as refractory anaemia according to the French-American-British (FAB) classification. Sea blue histiocytes were prominent, but particularly striking was the large number of cells with the typical morphological appearance of Gaucher cells (fig 2). Electron microscopic examination was, unfortunately, not performed. Cytogenetic analysis revealed a normal karyotype.

Understanding the molecular mechanisms underlying mammalian kidney function requires transcriptome profiling of the interplay between cells comprising nephron segments. Traditional transcriptomics requires cell dissociation, resulting in loss of the spatial context of gene expression within native tissue. To address this problem, we performed spatial transcriptomics (ST) to retain the spatial context of the transcriptome in human and mouse kidneys. The generated ST data allowed spatially resolved differential gene expression analysis, spatial identification of functional nephron segments, cell-to-cell interaction analysis, and chronic kidney disease-associated genetic variant calling. Novel ST thus provides an opportunity to enhance kidney diagnostics and knowledge, by retaining the spatial context of gene expression within intact tissue.

Peripheral blood stem cell (PBSC) mobilization for autologous transplantation is more difficult in treated patients and those with bone marrow involvement. In 17 pretreated lymphoma patients, cyclophosphamide (4 g/m2) and G-CSF mobilized a median circulating peak of 1959 CFU-GM/ml on day 12.5. PBSC harvesting commenced when WBC was 1 x 10(9)/l at day 10.5 collected a median of 21.2 x 10(4)/CFU-GM/kg. 13/17 (76%) patients exceeded the 10 x 10(4) CFU-GM/kg threshold for engraftment. The CFU-GM yield was significantly higher in patients whose WBC recovered from 1-5 x 10(9)/l in less than 3 days and correlated with the maximum WBC pre and post the cyclophosphamide induced nadir. This regime safely mobilized adequate PBSC in the majority of pretreated lymphoma patients.

The lymphoid tissues of Waldeyer's ring, including the nasopharynx, are very rare sites for Hodgkin's disease and are considered to be relatively resistant to it. This report of a case of Hodgkin's disease of the post-nasal space demonstrates the difficulty of making the diagnosis histologically and the characteristic immunohistochemical features of this disease.Before immunohistochemistry became so widely available, some authors speculated it might be underdiagnosed (Eavey and Goodman, 1982; O'Reilly and Kershaw, 1987). Judging by its continued rarity, this appears not to be the case.