Cases reported "Mastocytosis, Systemic"

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1/21. Detection of c-kit point mutation Asp-816 --> Val in microdissected pooled single mast cells and leukemic cells in a patient with systemic mastocytosis and concomitant chronic myelomonocytic leukemia.

    The c-kit mutation Asp-816-->Val is detectable not only in neoplastic mast cells (MCs) in patients with systemic mastocytosis (SM) but also in most associated hematologic non-MC lineage disease (AHNMD). In order to prove a monoclonal disease evolution we investigated dna of pooled microdissected single cells for the presence of the mutation in a patient with SM and concomitant chronic myelomonocytic leukemia (CMML). LightCycler melting curve analysis and direct sequencing of nested polymerase chain reaction (PCR) products revealed the c-kit mutation in tryptase-positive MC and in leukemic CD15-positive cells in bone marrow infiltrates, but not in colonic epithelial cells, thus, suggesting a monoclonal evolution of SM and concurrent CMML on the basis of a somatic mutation in a common hematologic progenitor.
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2/21. Aggressive systemic mastocytosis.

    Systemic mastocytosis is a rare and occasionally aggressive condition that raises major diagnostic challenges. We report a case in a 72-year-old patient in whom the diagnosis of malignant mastocytosis required two bone marrow smears and three bone marrow biopsies examined using specific staining techniques. Despite interferon therapy, a mast-cell sarcoma of the sternum developed 1 year after symptom onset, followed 1 year later by acute myeloblastic leukemia, which was rapidly fatal.
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3/21. Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL.

    mastocytosis comprises a heterogeneous group of hematological disorders which are morphologically defined by proliferation and accumulation of tissue mast cells in one or more organs. Clinical manifestations of mastocytosis range from disseminated maculopapular skin lesions (= urticaria pigmentosa [UP]) that may spontaneously regress to highly aggressive neoplasms like mast cell leukemia or mast cell sarcoma. Recently, it could be shown that systemic mastocytosis (SM) is a clonal disorder often exhibiting mutations of c-kit, a protooncogene encoding the tyrosine kinase receptor for stem cell factor (SCF). Mutations of c-kit are considered to play a key role in the pathogenesis of mastocytosis. Therefore, we investigated the unique case of a 36 year-old male patient with indolent systemic mastocytosis (ISM) evolving from UP (cutaneous mastocytosis) by means of histology, immunophenotyping and molecular biology. At the time of initial diagnosis the bone marrow showed only a mild diffuse increase in mast cells but compact infiltrates were missing. The serum tryptase levels were normal. Five years later, however, the bone marrow histology displayed patchycompact mast cell infiltrates, which now allowed to establish the diagnosis of an ISM. The serum tryptase levels at this time were markedly elevated. At both time points, mast cells were analyzed by immunohistochemistry using anti-tryptase antibody AA1, by flow cytometry using antibodies against CD2 and CD25, and nested polymerase chain reaction (PCR) on laser-microdissected, single pooled mast cells. immunohistochemistry revealed strong tryptase-positivity of mast cells in both cutaneous and bone marrow infiltrates. flow cytometry yielded an aberrant expression of CD2 and CD25 on bone marrow mast cells. However, repeated thorough PCR analysis failed to unveil c-kit mutation in atypical mast cells of skin and bone marrow samples of both dates. These findings clearly show that ISM can evolve from UP. Moreover, our study provides further evidence that the c-kit mutation Asp-816-Val is not invariably present in ISM.
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4/21. eosinophils are derived from the neoplastic clone in patients with systemic mastocytosis and eosinophilia.

    Twenty to thirty-three percent of systemic mast cell disease (SMCD) patients have some degree of peripheral blood and/or bone marrow eosinophilia. While the clonality of SMCD was established by identification of the pathogenic c-kit Asp816 to Val (D816V) mutation in sorted cells of different hematopoietic lineages, this mutation has not previously been demonstrated in eosinophils from SMCD patients. In the current study, we demonstrate the D816V mutation in purified eosinophils from two patients with aggressive, eosinophilia-associated SMCD, thus proving that the eosinophils are clonal and not reactive in nature. The clinical implications of this finding are discussed.
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5/21. Super scan leading to definitive diagnosis in a patient with recurrent syncope.

    A "super scan" pattern detected on bone scintigraphy usually indicates either metabolic bone disease or diffuse metastases. We report a rare case of a 45-year-old man with recurrent episodes of syncope of 10 years' duration in whom bone scintigraphy showed a super scan with an axial skeleton distribution of uptake. bone marrow biopsy established the diagnosis of systemic mastocytosis. The few reports in the literature of super scans associated with systemic mastocytosis showed diffuse axial and appendicular increased uptake. The present case shows a super scan involving the axial skeleton, which led to the diagnosis of systemic mastocytosis.
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6/21. Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature.

    Aggressive systemic mastocytosis (ASM) is a hematopoietic neoplasm characterized by infiltration of visceral organs by neoplastic mast cells (MCs) with consecutive organopathy and respective clinical and laboratory findings (so called C-Findings). Whereas, it is generally appreciated that patients with ASM are candidates for pharmacological intervention, no ideal drug or drug combination have been identified yet. One drug proposed to work in ASM is interferon alpha-2b (IFN-alpha2b). However, little is known so far about the quality of responses to IFN-alpha2b and actual response rates. We here report on five ASM patients treated with either a combination of IFN-alpha2b (3x3 million units per week) and prednisolone (n=4), or IFN-alpha2b alone (n=1). During therapy, two of the five patients showed a major response defined by complete resolution of C-Finding(s), one a partial response (partial regression of C-Findings), and one a stable disease (no changes in C-Findings). In one patient, progression to mast cell leukemia was seen after 3 months. In contrast to the other patients, this patient exhibited >10% MCs in his bone marrow (bm) smear at first presentation. In summary, our data confirm beneficial effects of IFN-alpha2b (plus prednisolone) for a group of patients with ASM, whereas patients with mast cell leukemia may require more aggressive therapy. Prospective trials with more patients are now required to further document these drug effects and to better define subgroups of patients with ASM who show good and long-lasting responses to IFN-alpha2b.
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7/21. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib.

    Mutational analysis of the c-kit gene in a patient with a previously undescribed variant of mast cell disease revealed a germline mutation, Phe522Cys, within the transmembrane portion of the Kit receptor protein. transfection experiments revealed that the mutation caused ligand-independent autophosphorylation of Kit, which was inhibited by the tyrosine kinase inhibitor imatinib mesylate. The patient's bone marrow biopsy and aspirate displayed unique pathologic features with the presence of excessive numbers of mature-appearing mast cells and absence of aberrant mast cell surface expression of CD2, CD25, and CD35. Therapy with imatinib mesylate resulted in a dramatic improvement in mast cell burden and clinical symptoms. These results highlight the significance of the transmembrane region of Kit in activation of the molecule and its importance in mast cell development and suggest a role for screening for transmembrane c-kit mutations in patients with mastocytosis in association with the decision to use imatinib mesylate.
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8/21. Acute spinal epidural hematoma and systemic mastocytosis.

    BACKGROUND: Systemic mastocytosis is a mast cell proliferative disorder affecting many organs that is rarely associated with internal bleeding. OBJECTIVE: To describe a case of spinal epidural hematoma in a patient with past medical history of urticaria pigmentosa and osteoporosis diagnosed with systemic mastocytosis. CASE REPORT: A 63-year-old woman with urticaria pigmentosa was admitted to hospital for severe back pain after minor trauma. physical examination showed pain on pressing T12 and L1 spinous processes, bilateral Lasegue sign, absent ankle jerk, and extensor plantar response. Computed tomography disclosed L3 fracture, and magnetic resonance imaging revealed spinal epidural hematoma and T2 hyperintensive scattered vertebral foci that suggested malignancy. The 24-hour urine histamine was very high. Mast cell infiltration was found in bone marrow biopsy. Because power was normal and there was no clinical sphincter disorder, the patient was successfully treated with conservative care. CONCLUSIONS: To our knowledge, acute intraspinal epidural hematoma has never been associated with mastocytosis. The hematoma was likely related to the vertebral fracture as well as a hemorrhagic diathesis due to anticoagulants released by local mast cells.
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9/21. Aggressive systemic mastocytosis mimicking sclerosing cholangitis.

    A 43 year-old woman presented with fever, abdominal pain, epato-splenomegaly, ascites, cholestasis, anemia, thrombocytopenia and previous diagnosis of sclerosing cholangitis based on liver biopsy and endoscopic retrograde cholangiopancreatography(ERCP). The bone marrow biopsy and the revision of liver biopsy using antitryptase stain diagnosed systemic mastocytosis. Because of the aggressive course of the disease the patient was treated with an acute myeloid leukaemia chemotherapy regimen without success.
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10/21. Successful treatment of systemic mastocytosis with high-dose interferon-alfa: long-term follow-up of a case.

    Daily treatment of systemic mastocytosis with high-dose interferon-alfa often is not tolerated because of clinical or hematologic side effects. We report successful treatment of a patient with systemic mastocytosis, who was positive for the D816V mutation, with interferon alfa-2b at 10 million units three times per week. During 5 years of treatment, bone marrow infiltration by mast cells decreased from 50 to < or =5%, and there was a decrease (urinary N-methylhistamine excretion, 75%; serum tryptase concentration, 98%) or normalization (serum calcitonin value, urinary prostaglandin F2alpha excretion) of mast cell mediators. Side effects included mild depression (untreated) and biochemical hypothyroidism easily managed with supplemental levothyroxine.
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