Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P15088 (mast cell)
 14,925 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present the case of a 44-year-old white male who developed multiple myeloma complicated by acute renal failure 8 years after the onset of urticaria pigmentosa. Mast cell disease has been associated with a number of haematological malignancies, particularly those from the myeloid lineage. Lymphoproliferative disorders have also been linked with mast cell disease but an association with multiple myeloma has not previously been described. Patients with urticaria pigmentosa should undergo simple screening blood tests to exclude an underlying haematological malignancy.
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PMID:Urticaria pigmentosa coexisting with multiple myeloma. 913 58

The quantitative measurement of the expression of both cytoplasmic and surface CD63 antigen by human mast cells from both normal and pathological bone marrow samples was studied by use of flow cytometry. Our major goal was to analyze whether in vivo CD63 expression by human bone marrow mast cells could be useful to discriminate bone marrow mast cells from patients with mastocytosis from other conditions. For that purpose, a total of 65 subjects corresponding to 12 healthy volunteers, 25 B-cell chronic lymphoproliferative disorders, 5 reactive bone marrow samples, 4 myelodysplastic syndromes, and 19 mastocytosis were analyzed. The expression of both surface and cytoplasmic CD63 by human bone marrow mast cells is clearly demonstrated. Our results show that high amounts of CD63 are present in human bone marrow mast cells most of it corresponding to an intracellular localization. No significant differences in CD63 expression were observed as regards both total and cytoplasmic CD63, except for higher CD63 levels in adult patients with mastocytosis (P = 0.05). By contrast, the mean level of surface CD63 significantly varied between the different groups of individuals. Accordingly, patients with monoclonal gammopathies displayed a slight decrease (P = 0.1) in surface CD63 expression, whereas bone marrow mast cells from adults with indolent systemic mast cell disease showed significantly (P = 0.0005) higher levels of surface CD63 as compared to healthy controls.
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PMID:Human bone marrow mast cells from indolent systemic mast cell disease constitutively express increased amounts of the CD63 protein on their surface. 982 8

Systemic mastocytosis (SM) is a myeloproliferative disease affecting multipotent and/or mast cell-committed hematopoietic progenitor cells. In a significant subgroup of patients (10-35%), an associated clonal hematologic non-mast cell lineage disorder (AHNMD) occurs. These AHNMDs can be classified according to recently established WHO criteria. Most AHNMDs resemble myeloid malignancies such as acute myeloid leukemia, myeloproliferative disorders or myelodysplastic syndromes. In only a few cases, lymphoproliferative disorders are diagnosed. Patients with SM-AHNMD have a less favorable prognosis concerning survival when compared to indolent SM. No general guidelines for the treatment of patients with SM-AHNMD have been established so far. A reasonable straightforward approach may be to treat the AHNMD in those patients in the same way as if no coexisting SM exists.
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PMID:Spectrum of associated clonal hematologic non-mast cell lineage disorders occurring in patients with systemic mastocytosis. 1191 25

Immunoglobulin light chains (IgLCs) are part of intact immunoglobulins and contribute to antigen recognition. However, IgLCs are synthesized by B cells slightly in excess of Ig heavy chains and are found in the plasma of healthy people at low concentrations. IgLCs are metabolized primarily by the kidney. In B-cell lymphoproliferative disorders, e.g., multiple myeloma, the serum concentration of monoclonal IgLCs markedly increases and the reabsorptive capacity of the proximal tubuli is exceeded. As a consequence, monoclonal IgLCs appear as Bence Jones proteins (BJPs) in the urine and can give rise to IgLC deposits in the kidney that may result in renal insufficiency. In patients with chronic kidney disease (CKD) of various origins, reduced excretion leads to increased serum levels of polyclonal IgLCs. Free IgLCs interfere with essential functions of neutrophils, cells of the first-line nonspecific immune defense, and therefore contribute to the disturbed immune function in CKD patients. IgLCs attenuate the coordinated apoptotic cell death of neutrophils and therefore may interfere with the normal resolution of inflammation and contribute to the chronic inflammatory state found in CKD patients. Recently it was shown that IgLCs may confer mast cell-dependent hypersensitivity and thereby play an important role in the development of contact sensitivity.
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PMID:Free immunoglobulin light chains as a risk factor in renal and extrarenal complications. 1970 83

Systemic mastocytosis with associated clonal haematological non-mast cell lineage disease (SM-AHNMD) is a heterogeneous group of mast cell disorders with different clinical, pathologic and underlying molecular characteristics. While myelomonocytic/myeloid neoplasia overwhelmingly predominates the AHNMD component, lymphoproliferative disorders rarely occur as an AHNMD component of SM-AHNMD. Here we report two cases of SM-AHNMD, in which the AHNMD component is chronic lymphocytic leukemia in one case, and concurrent chronic lymphocytic leukemia as well as plasma cell myeloma in another case. To the best of our knowledge, this is the first case report of SM-AHNMD with chronic lymphocytic leukemia and plasma cell dyscrasia simultaneously.
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PMID:Systemic mastocytosis in association with chronic lymphocytic leukemia and plasma cell myeloma. 2049 Mar 36

BACKGROUND Systemic mastocytosis with an associated hematologic non-mast cell lineage disease is a rare entity, and the majority of systemic mastocytosis cases are associated with myeloid neoplasm. Lymphoproliferative disorders are less commonly associated with systemic mastocytosis and a few cases of systemic mastocytosis associated with chronic lymphocytic leukemia have been described in the literature. CASE REPORT We present a case of indolent systemic mastocytosis associated with small lymphocytic lymphoma. The bone marrow biopsy demonstrated mast cells in the form of clusters and perivascular distribution on immunohistochemistry for tryptase, CD2, and CD25 markers. In addition, 30% involvement by small lymphocytic lymphoma was discovered in the form of interstitial lymphoid aggregates composed of small lymphocytes. Flow cytometry showed B-cells positively stained for CD19, CD20, CD5, CD23, and kappa light chains, and the CD38 expression was <5%. CONCLUSIONS In systemic mastocytosis with an associated hematologic non-mast cell lineage disease, the combination of systemic mastocytosis associated with small lymphocytic lymphoma is rare and the management strategy follows the principle of treating the two entities individually as if they are not related. Clinical surveillance is indicated for indolent systemic mastocytosis and low-risk small lymphocytic lymphoma to monitor for disease progression.
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PMID:Systemic Mastocytosis in Association with Small Lymphocytic Lymphoma. 2897 Apr 67

Mastocytosis is a mast cell disease caused by functionally defective infiltrating mast cells and CD34+ mast cell precursors. The heterogeneous group of mast cell disorders is categorized into five variants in the updated 2017 World Health Organization (WHO) classification among those systemic mastocytosis with an associated neoplasm (SM-AHN). Except for myeloid neoplasia, lymphoproliferative disorders associated to SM-AHN are more scarce. Here, we report the second case ever described of associated mastocytosis and hairy-cell disease. A 38-year-old female patient without any specific medical history was diagnosed a hairy cell leukemia and BRAFV600E mutation was found in hairy cells. Since purine-analogs were avoided to prevent prolonged myelosuppression, she was treated with vemurafenib and rituximab. Despite early discontinuation due to vemurafenib-induced agranulocytosis, a partial response was observed. Strikingly, bone marrow biopsy performed one month after vemurafenib discontinuation revealed a nodular infiltration by 30% tumoral mastocytes. Along with elevated tryptase level, KITD816V mutation on mastocytes and clinical exam, the patient was diagnosed with systemic mastocytosis with an associated hematological neoplasm (SM-AHN). No BRAFV600E mutation was found on mastocytes. The physiopathology of this association is not known and might be only a coincidence or a common genetic driver mutation enhancing mast and hairy cells.
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PMID:Mastocytosis onset in a patient with treated hairy cell leukemia: Just a coincidence? 3179 34