Sea-blue histiocytes and Gaucher cells in bone marrow of patients with chronic myeloid leukaemia.

Kelsey, P R; Geary, C. G.

doi:10.1136/jcp.41.9.960

Cited by 39 publications

(20 citation statements)

References 2 publications

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“…27,28 Sea-blue histiocytes, although relatively rare, have been reported in a variety of conditions ranging from the more commonly cited Niemann-Pick disease, to an effect of total parenteral nutrition including fat emulsions, to a variety of hematologic malignancies including non-Hodgkin lymphoma, light chain deposition disease, myeloproliferative neoplasms, and MDS. [29][30][31][32][33][34][35][36] It has also been previously reported in SLE. 9 We found SBHs relatively rarely, in only 6 cases total, all of which were CVD.…”

Section: Quantitation Of Cell Lineages By Immunohistochemistrymentioning

confidence: 87%

Bone Marrow Examination for Unexplained Cytopenias Reveals Nonspecific Findings in Patients With Collagen Vascular Disease

Hunt

Salama

Sever

et al. 2013

Archives of Pathology &Amp; Laboratory Medicine

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Context.—Collagen vascular diseases are frequently included in the differential diagnosis for unexplained cytopenias and often prompt a bone marrow biopsy in this patient population to exclude malignancy. Few large-scale studies have characterized the bone marrow morphology in patients with collagen vascular disease, and most are limited to systemic lupus erythematosus or rheumatoid arthritis. Objective.—To identify morphologic and immunohistochemical abnormalities specific to each of a wide range of collagen vascular disease cases. Design.—We examined 102 cases of collagen vascular disease and 38 controls and evaluated the complete blood count, peripheral blood morphology, bone marrow morphology, as well as immunohistochemical staining, for numerous cell lineages. Results.—Bone marrow findings, including abnormalities such as lymphoid aggregates, lipogranulomas, or abnormal localization of immature precursors, were not significantly different as compared to the control group. Conclusions.—Bone marrow examination in patients with collagen vascular disease with cytopenias seldom provides new information. Caution should be exercised in interpreting morphologic findings suggestive of myelodysplasia since these are of a reactive nature in up to 27% of patients with collagen vascular disease. In a cost-effective diagnostic strategy, successful utilization may favor postponing a bone marrow biopsy while a more standardized autoimmune diagnostic panel is being performed.

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Section: Quantitation Of Cell Lineages By Immunohistochemistrymentioning

confidence: 87%

Bone Marrow Examination for Unexplained Cytopenias Reveals Nonspecific Findings in Patients With Collagen Vascular Disease

Hunt

Salama

Sever

et al. 2013

Archives of Pathology &Amp; Laboratory Medicine

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“…[1][2][3] In CML, pseudo-Gaucher cells are believed to arise from increased hemophagocytic activity associated with the high turnover of hematopoietic elements. 4 Because the pseudo-Gaucher cells in CML are monocyte/macrophage-derived, they are assumed to arise from the CML clone and carry the Philadelphia (Ph) chromosome, although this has not been established directly.…”

Section: Introductionmentioning

confidence: 99%

Pseudo-Gaucher histiocytes identified up to 1 year after transplantation for CML are BCR/ABL-positive

et al. 1998

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The results of polymerase chain reaction (PCR) analysis after transplantation for chronic myelogenous leukemia (CML) are difficult to interpret clinically. Positive findings for BCR/ABL can be seen not only in patients who go on to relapse but also in patients who, after years of follow-up, remain in complete remission. The cause for the lack of concordance between PCR findings and relapse is not clear. We identified two patients with CML who had rare pseudo-Gaucher cells in their bone marrow aspirate specimens prior to, and at 1, and 6 or 12 months following syngeneic or allogeneic hematopoietic transplantation. After the transplant, the patients obtained clinical remission and were shown to be cytogenetically normal and to have germline MBCR in blood or bone marrow by Southern analysis. One patient was PCR-positive for BCR/ABL in the marrow at 12 months. In order to determine whether the pseudo-Gaucher histiocytes were BCR/ABL-positive, we used fluorescence in situ hybridization and probes for MBCR and ABL and analyzed Wright-stained smears to correlate molecular cytogenetic findings with cell type. On three aspirate smears from each patient (at 6 or 12 months post-transplant), all of the pseudo-Gaucher cells studied (10/10 in one patient and 12/12 in the other) showed the fusion for BCR/ABL. Other cells analyzed randomly (erythroid precursors, granulocytes and rare monocytes, lymphocytes and plasma cells) did not. Our cases provide the first proof that pseudo-Gaucher cells carry the BCR/ABL fusion. Furthermore, they illustrate that these cells can be found in the marrow for up to 12 months following transplantation. Our results permit speculation that pseudo-Gaucher cells or other long-lived histocytes may be one cause of persistent PCR positivity after transplantation that is not predictive of disease relapse.

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“…Both primary and secondary forms of sea-blue histiocytosis have been described; the latter can be associated with disorders of lipid metabolism, either inherited or acquired. For example, an increased cellular turnover such as that in various hematological diseases (myelodysplastic syndromes, myeloproliferative disorders) may cause the accumulation of sea-blue histiocytes within the bone marrow [2,3,4]. These peculiar cellular elements can also be the morphological expression of a congenital metabolic error such as that occurring in the Gaucher disease and NPD [5,6].…”

Section: Discussionmentioning

confidence: 98%

“…The common feature is the accumulation of unsaturated lipids due to increased production or to a failure of catabolism. The former group include various blood disorders such as chronic myeloid leukemia, idiopathic thrombocytopenic purpura, and myelodysplastic syndromes in which cells are cleared at an increased rate by the reticuloendothelial system [3,4]. The latter group encompasses a variety of inherited metabolic defects including sphingomyelinase deficiency such as NiemannPick disease (NPD) and Gaucher disease [5,6,7].…”

Section: Introductionmentioning

confidence: 98%

Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report

Candoni

Grimaz²,

Doretto³

et al. 2001

Annals of Hematology

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Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism. We report a rare case of sea-blue histiocytosis associated with a mild phenotype of Niemann-Pick disease (NPD) type B in a 44-year-old man who presented with splenomegaly and mild thrombocytopenia. Diagnosis was guided by the morphological finding in bone marrow smears of foamy and sea-blue histiocytes and confirmed by the measurement of acid lysosomal sphingomyelinase activity below normal values. NPD type B is a rare inborn error of metabolism, with a benign course and prognosis, while types A and C are always associated with severe neurological involvement. In our patient diagnosis was confirmed by the specific enzyme assay of leukocytes (deficiency in sphingomyelinase activity). This is a simple and noninvasive method that is useful whenever clinical and morphological finding are relevant, and a primary hematological disorder has been ruled out.

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Sea-blue histiocytes and Gaucher cells in bone marrow of patients with chronic myeloid leukaemia.

Cited by 39 publications

References 2 publications

Bone Marrow Examination for Unexplained Cytopenias Reveals Nonspecific Findings in Patients With Collagen Vascular Disease

Bone Marrow Examination for Unexplained Cytopenias Reveals Nonspecific Findings in Patients With Collagen Vascular Disease

Pseudo-Gaucher histiocytes identified up to 1 year after transplantation for CML are BCR/ABL-positive

Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report

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