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At least 19 recordsLinked to original sources
PubMed2001

Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis.

The proto-oncogene C-KIT encodes a tyrosine kinase receptor that is expressed on mast cells and haematopoietic stem cells and can show somatic mutations in patients with mastocytosis. Only scattered information is available about mutations in C-KIT in patients with other myeloid neoplasms. Moreover, the prevalence of mutations in C-KIT in bone marrow specimens of individuals with systemic mastocytosis is largely unknown. Using sequence analysis, we have screened cDNAs of the C-KIT domain encompassing codon 510-626 and codon 763-858 in bone marrow (BM) mononuclear cells (MNCs) of patients with myelodysplastic syndromes (n = 28) and patients with systemic mastocytosis (n = 12) for the presence of mutations. Furthermore, restriction fragment length polymorphism analysis was applied for identification of the C-KIT 2468A-->T and the C-KIT 1700T-->G mutation, as well as the C-KIT 1642A-->C polymorphism. All 11 patients with systemic indolent mastocytosis tested positive for C-KIT 2468A-->T. In contrast, no mutation was identified in the case of aggressive mastocytosis. Among patients with myelodysplastic syndromes, no patient showed a somatic mutation in C-KIT. The allele frequency for C-KIT 1642A-->C among the entire patient population was 0.038 and was 0.125 among age- and sex-matched healthy controls. Our data demonstrate that myelodysplastic syndromes without histological or cytological evidence of mastocytosis do not exhibit somatic mutations in exons 10, 11, 12, 16, 17 and 18 of C-KIT. In contrast, BM MNCs of patients with systemic indolent mastocytosis were all positive for C-KIT 2468A-->T and negative for additional mutations in these exons. The C-KIT 1642A-->C polymorphism is not associated with myelodysplastic syndrome or systemic mastocytosis.

Adult↗
PubMed1999

Recent advances in mastocytosis research. Summary of the Vienna Mastocytosis Meeting 1998.

The term mastocytosis denotes a heterogenous group of disorders characterized by abnormal growth and accumulation of mast cells in one or more organs. Cutaneous and systemic variants of the disease have been described. Mast cell disorders have also been categorized according to other aspects, such as family history, age, course of disease, or presence of a concomitant myeloid neoplasm. However, so far, generally accepted disease criteria are missing. Recently, a number of diagnostic (disease-related) markers have been identified in mastocytosis research. These include the mast cell enzyme tryptase, CD2, and mast cell growth factor receptor c-kit (CD117). Several gain-of-function-mutations in the kinase domain of c-kit appear to occur in mastocytosis supporting the clonal (neoplastic) nature of the disease. Also, certain point mutations appear to be associated with distinct variants of mastocytosis, i.e. Asp-816-->Val with a subset of sporadic persistent (systemic) mastocytosis (mostly adults), and Gly-839-->Lys with (a subset of) typical pediatric (mostly cutaneous) mastocytosis. Another potential indicator of mast cell neoplasm is the T-/NK-cell-associated marker CD2. This antigen (LFA-2) is abnormally expressed on neoplastic mast cells in cases of systemic mastocytosis or mast cell leukemia, but not found on normal mast cells. The mast cell enzyme tryptase is increasingly used as a serum- and immunohistochemical marker to estimate the actual spread of disease (burden of neoplastic mast cells). The clinical significance of novel mastocytosis markers is currently under investigation. First results indicate that they may be useful to define reliable criteria for the delineation of the disease.

Adult↗
PubMed2002

[Aleukemic mast cell leukemia (formerly: "malignant mastocytosis"): an extremely rare form of leukemia. A case report and simultaneously a contribution to revised classification of mastocytosis].

The term mastocytosis denotes a heterogeneous group of rare hematological disorders characterized by abnormal accumulation of mast cells. While cutaneous mastocytosis is relatively frequent mast cell leukemia belongs to the rarest forms of human leukemia. In the following we present the case of an aleukemic mast cell leukemia and shall discuss the revised classification of mastocytosis based on the "Year 2000 Working Conference on Mastocytosis" held in Vienna, Austria. A 48 year-old caucasian man presented with a four-week history of diarrhea, obstipation, vomiting, rash, and mild fever. Clinical inspection revealed a disseminated itching rash and a mild hepatomegaly. Red and white blood cell counts were within the normal range. Levels of the alkaline phosphatase and serum histamine were significantly increased. There was no splenomegaly or lymphadenopathy. Cytologic and histologic investigation of the bone marrow revealed a marked increase in atypical mast cells. Since only a few circulating mast cells could be detected in a cytospin preparation of the blood, the diagnosis of an aleukemic mast cell leukemia was established. About four weeks after the diagnosis had been established, the patient died with signs of a hemorrhagic shock due to a massive gastrointestinal bleeding. Autopsy revealed widespread mast cell infiltration of bone marrow, spleen, liver and lungs, but also a small, deeply penetrating, non-specific duodenal ulcer. In conclusion, despite of presentation with signs of a primary gastrointestinal disorder, the patient was found to suffer from an exceedingly rare aleukemic mast cell leukemia ("malignant mastocytosis") and died after a total duration of the disease of only about three months.

Alkaline Phosphatase↗
PubMed2004

Immunophenotypic analysis of mast cells in mastocytosis: When and how to do it. Proposals of the Spanish Network on Mastocytosis (REMA).

BACKGROUND: Mastocytosis is a term used for a heterogeneous group of disorders characterized by an abnormal proliferation and accumulation of mast cells (MCs) in one or multiple tissues including skin, bone marrow, liver, spleen, and lymph nodes, among others. METHODS: In recent years, multiparameter flow cytometric studies have shown that pathologic MCs from patients with mastocytosis display unique aberrant immunophenotypic characteristics as compared with normal MCs. RESULTS: Among other features, pathologic MCs show aberrant expression of CD25 and CD2 antigens and abnormally high levels of the CD11c and CD35 complement receptors, the CD59 complement regulatory molecule, the CD63 lysosomal membrane antigen, and the CD69 early-activation antigen. In addition, MCs from mastocytosis express abnormally low levels of CD117 and unexpectedly high light scatter and autofluorescence characteristics. CONCLUSIONS: These aberrant immunophenotypic features are of great relevance for the assessment of tissue involvement in mastocytosis with consequences in the diagnosis, classification, and follow-up of the disease and in its differential diagnosis with other entities. In this paper we provide the reader with information for the objective and reproducible identification of pathologic MCs by using quantitative multiparametric flow cytometry, information for their phenotypic characterization, and the criteria currently used for a correct interpretation of the immunophenotypic results obtained.

Antibodies, Monoclonal↗
PubMed1997

Heterogeneity of mast cells in mastocytosis and inhibitory effect of ketotifen and ranitidine on indolent systemic mastocytosis.

BACKGROUND: Mastocytosis is a disorder of mast cell proliferation that occurs in both cutaneous and systemic forms. The most frequent site is the skin. OBJECTIVE: The mast cell subtype of two patients with mastocytosis was investigated. METHODS: Immunohistochemical studies were performed on the skin or gastric mucosa or both of the two patients. Blood and urine levels of various mediators were measured for one patient. RESULTS: Mast cells containing tryptase and chymase were the only type seen in the skin lesions of an 11-month-old boy with urticaria pigmentosa. Mast cells containing tryptase were predominant in lesions of the skin and gastric mucosa of a 41-year-old man with indolent systemic mastocytosis. However, mast cells containing tryptase and chymase were predominant in the nonlesional and the normal skin of this patient. Tryptase-positive cells were more numerous in lesional skin than nonlesional skin and normal skin. Elevated blood and urine levels of various mediators were decreased by means of combination therapy with ketotifen and ranitidine. CONCLUSION: In indolent systemic mastocytosis, mast cell dynamics involve only cells containing tryptase. Release of mediators from mast cells may be inhibited by means of combination therapy with histamine H1 and H2 receptor antagonists.

Adult↗
PubMed2006

"Occult" mastocytosis with activating c-kit point mutation evolving into systemic mastocytosis associated with plasma cell myeloma and secondary amyloidosis.

A case of a 70-year-old man presenting with exsudative enteropathy due to light-chain-associated amyloidosis is reported. The diagnosis of systemic mastocytosis associated with IgG/lambda plasma cell myeloma and secondary generalised amyloidosis was carried out by morphological evaluation of bone marrow biopsy. The c-kit point mutation D816Y was detected by molecular analysis. Two years before, a cystadenolymphoma of the left parotid gland had been removed. A moderate increase of loosely scattered spindle-shaped mast cells, a subpopulation of them expressing CD25, an antigen that is not expressed by normal or reactive mast cells, was shown by retrospective analysis carried out on an intraparotideal lymph node. The c-kit mutation D816Y was shown by the molecular analysis of the lymph node. In summary, the notion that systemic mastocytosis may very rarely be associated with B cell neoplasms and that neoplastic mast cell infiltrates may be obscured because of only a minimal increase of atypical mast cells, which are outnumbered by other non-neoplastic cells in the same tissue, is supported by this case. This finding was preliminarily termed "occult" mastocytosis.

Aged↗
PubMed2002

Cladribine induces immunophenotypical changes in bone marrow mast cells from mastocytosis. Report of a case of mastocytosis associated with a lymphoplasmacytic lymphoma.

In the present paper a case of a 65-year-old man diagnosed as suffering from a lymphoplasmacytic lymphoma, resistant to conventional chemotherapy, associated to a bone marrow (BM) mastocytosis, who was successfully treated with cladribine is reported. In this patient cladribine induced not only clinical remission of the lymphoplasmacytic lymphoma but it was also associated with immunophenotypical changes in the BM mast cells (MCs) compartment. Such changes were consistent with a decrease in the number of phenotypically aberrant (CD2+/CD25++/CD35++/CD69++/CD117++) MCs and the reappearance in the BM of MCs displaying a normal phenotype (CD2-/CD25-/CD35-/CD69+/CD117+++). Despite the potential utility of cladribine in the treatment of mastocytosis, our observations should be considered as preliminary and caution should be taken as regards the exact indications of the use of this purine analog in mastocytosis.

Aged↗
PubMed1988

Systemic mastocytosis and mastocytosis-like syndrome: radiologic features of gastrointestinal manifestations.

Mastocytosis is a disorder of unknown etiology characterized by an abnormal proliferation of tissue mast cells, and/or by degranulation of abnormally behaving mast cells that show no proliferation, but release myriad active metabolites. This results in a wide spectrum of signs and symptoms that fluctuate considerably. The presently available diagnostic tests vary in their specificity and sensitivity. We have evaluated the role of radiologic studies in 78 confirmed cases of systemic mastocytosis and/or mastocytosis-like syndrome, including barium meal and small bowel follow-through (UGI-SBFT).

Adolescent↗
PubMed2000

[Mastocytosis: an important differential diagnosis in anaphylactoid reaction to Hymenoptera sting. A case report and overview of clinical aspects, diagnosis and current therapy of mastocytosis].

A 77-year old farmer presented with a history of three severe anaphylactoid reactions after hymenoptera stings for the last three years. No sensitisation to hymenoptera venoms could be shown on allergological work-up. The serum level of tryptase however was clearly elevated (37.1 micrograms/l; normal value: < 13.5 micrograms/l). The diagnosis of systemic mastocytosis could be confirmed by bone marrow biopsy. Patients with mastocytosis are at increased risk of anaphylactic/anaphylactoid reactions. They should be educated how to avoid trigger factors and they should always carry an emergency kit (H1 blocker, corticosteroid, adrenalin) and a "mastocytosis pass" with them. Venom immunotherapy is indicated in patients with proven hymenoptera allergy. Selected patients at very high risk of anaphylactic reactions may need a continuous prophylactic medication with H1 and H2 blocker and eventually a cyclooxygenase inhibitor.

Aged↗
PubMed1990

[Systemic mastocytosis and malignant mastocytosis].

Systemic mastocytosis is a rare, often undiagnosed disease characterized by the proliferation of mast cells in several tissues. The clinical symptoms are related to the mast cell infiltrates, but also to the release of numerous mediators. Malignant mastocytosis is a term that refers to two different entities: aggressive mastocytosis, where the outcome with a myeloproliferative disease, where the latter governs the prognosis. The potential severity of these diseases justifies the development of more intensive therapeutic measures.

Humans↗
PubMed1984

Bullous mastocytosis: diffuse cutaneous mastocytosis with extensive blisters mimicking scalded skin syndrome or erythema multiforme.

Bullous mastocytosis (diffuse cutaneous mastocytosis) is a rare form of mast cell disease that begins during the first month of life and causes extensive blisters that mimic scalded skin syndrome or bullous erythema multiforme. Discrete pigmented macules, papules, and nodules are absent and the characteristic leathery induration of skin may not develop until 6 months of age. Skin biopsy shows a subepidermal blister with mast cells at the base. The most serious complications are gastrointestinal hemorrhage and shock. The symptoms of bullous mastocytosis may be modified by a number of new therapeutic agents.

Burns↗
PubMed1979

Systemic mastocytosis and the mastocytosis syndrome.

A patient with extensive systemic mastocytosis and the mastocytosis syndrome was studied by light and electron microscopy. Mast cell proliferation was found in the bone marrow, the liver, spleen and lymph node. In addition, the patient had telangiectasia macularis eruptiva perstans and elevated histamine levels.

Bone Marrow↗
PubMed1990

The familial occurrence of bullous mastocytosis (diffuse cutaneous mastocytosis).

We studied four patients (a mother, her two daughters, and her son) with bullous mastocytosis, or diffuse cutaneous mastocytosis, whose genetic inheritance suggested an autosomal dominant pattern. The clinical characteristics included extensive bullae, numerous urticaria, pruritus, flushing, and pseudolichenified skin over all body surfaces without systemic organ involvement. The histopathologic findings disclosed a pronounced accumulation of mast cells in the dermis. Electron microscopic studies of lesional skin obtained in infancy showed round or spindle-shaped mast cells with numerous fingerlike villous protrusions. The cytoplasmic granules varied in size and shape, and the appearance of degranulation was markedly noted. In the adult, most mast cells had markedly decreased numbers of granules and cytoplasmic villi. Some cells displayed degenerative or necrotic appearances. These findings correlated well with the clinical course of these cases, which improved spontaneously over time.

Adult↗
PubMed2006

Systemic mastocytosis mimicking inflammatory bowel disease: A case report and discussion of gastrointestinal pathology in systemic mastocytosis.

Gastrointestinal (GI) symptoms are present in up to 80% of patients with systemic mastocytosis (SM). GI symptoms include mainly abdominal pain, diarrhea, nausea, and vomiting. It is believed that most of the GI symptoms are due to the secondary effect of mast cell mediators on the GI tract. Direct involvement of the GI tract by neoplastic mast cell infiltration has not been well documented. We report a case of SM that initially mimicked inflammatory bowel disease based on clinical, radiographic, endoscopic, and histopathologic findings. On routine histologic sections of small bowel and colonic mucosal biopsies, there was expansion of the lamina propria by mononuclear inflammatory cells, foci of erosions with associated acute inflammation, and evidence of chronic mucosal injury with architectural distortion and gland foreshortening. Only on repeat biopsies and with ancillary tests for mast cells was a diagnosis of SM made, with extensive involvement of the GI tract. This is the first reported case of SM presenting as and mimicking inflammatory bowel disease. It is critical that clinicians and pathologists are aware that neoplastic mast cells in patients with SM can infiltrate the mucosa throughout the GI tract and that this infiltration can lead to symptoms and findings that can mimic inflammatory bowel disease.

Colonoscopy↗
PubMed2002

Smouldering mastocytosis: a novel subtype of systemic mastocytosis with slow progression.

Systemic mastocytosis (SM) is a clonal disease that shows an either indolent or an aggressive clinical course. Utilizing established criteria, indolent SM can readily be discriminated from the rare aggressive subvariants of SM in most cases. In a small group of patients, however, clinical and laboratory parameters are indicative of slow progression without signs of aggressive disease or an associated hemopoietic neoplasm. These SM patients exhibit a high burden of mast cells, hypercellular marrow and organomegaly. Because of the 'intermediate' course and uncertain prognosis, these cases have been referred to as smouldering SM. In the present article, we discuss clinical and laboratory findings in smouldering SM and review the current literature. In addition, the pathophysiology of this novel subtype of SM is discussed.

Humans↗