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

Malignant Systemic Mastocytosis is a very rare condition. Only about less than 40 well documented cases have been reported as per the available literature. The paper presents the case report of a 54 year old male patient who presented with huge hepatosplenomegaly and abdominal lymphadenopathy. Splenectomy specimen was 17 x 16 x 10 cm size with cut surface studded with numerous tiny 1-2 mm nodules. Histologic sections of spleen showed extensive mast cell (typical and atypical) infiltrates. Liver biopsy and abdominal lymphnode biopsy specimens and bone marrow smears also showed similar infiltration by mast cells. Special stains done for non-specific esterase and chloracetate esterase showed strong positivity for mast cells. The results of immunohistochemical and electron microscopic studies are also presented.
 ...
PMID:Malignant systemic mastocytosis. 129 4

A 68-year-old man presented with a 6-month history of fatigue, rhinorrhoea, pruritic skin lesions, left pleural effusion, ascites, oedema and weight loss of 10 kg. Investigations revealed hepatosplenomegaly, retroperitoneal lymphadenopathy, anaemia, leucocytosis with eosinophilia, hypoprothrombinaemia, hypocholesterolaemia and elevation of both gamma glutamyltransferase and alkaline phosphatase. Biopsies of a skin lesion, bone marrow and liver revealed mast cell infiltration, allowing the diagnosis of systemic mastocytosis (SM). Hydroxyzine plus ranitidine were given without success. Hydroxyzine treatment was stopped, and ketotifen was initiated; substantial symptomatic improvement was observed within 8 d. This case report indicates the effectiveness of ketotifen in the symptomatic treatment of SM.
 ...
PMID:A case of systemic mastocytosis; therapeutic efficacy of ketotifen. 204 Aug 76

The bone marrow examination is useful in the diagnosis and management of patients with malignant lymphoma. Demonstration of marrow lymphoma is dependent on obtaining adequate and properly prepared tissue for examination. The incidence and pattern of marrow disease differ for the various Working Formulation classes of non-Hodgkin's lymphoma (NHL); low grade and high-grade NHL have the highest incidence of marrow involvement at diagnosis. Hodgkin's disease involves the marrow less commonly than NHL and is found in a histologic environment similar to that in lymph node biopsies. Several benign lesions, including reactive lymphoid aggregates, granulomas, immunoblastic lymphadenopathy, and mast cell disease, must be distinguished from NHL or Hodgkin's disease in some instances.
 ...
PMID:Bone marrow in malignant lymphoma. 306 22

The clinical and pathologic features of systemic mastocytosis in 16 dogs are reported. There was no apparent breed or sex predilection, and the median age at presentation was 9.5 years. In 14 of 16 cases there was a primary cutaneous mast cell tumor (MCT). When cutaneous tumor location was compared with previous reports, there was no association between location and systemic dissemination. The most common presenting signs associated with the cutaneous tumor were regional dissemination, edema, ulceration, and abscessation. They were present in 12 dogs (69%). Signs of systemic illness, including anorexia, vomiting, and diarrhea, were seen in eight dogs (50%). Other than the cutaneous tumors, the most consistent physical and radiographic abnormalities included lymphadenopathy, splenomegaly, and hepatomegaly. Eosinophilia and basophilia were seen in two and five dogs, respectively. Six dogs had increased numbers of mast cells in peripheral blood or buffy coat smears. Five of the nine dogs evaluated had increased numbers of mast cells in bone marrow aspirates. Bone marrow aspiration was superior to both peripheral blood and buffy coat smears in predicting mastocytosis. Coagulation abnormalities were seen in three of five dogs tested. Using a conventional histomorphologic grading system, 10 of 13 (77%) tumors were classified as Grade III or undifferentiated and were overrepresented when compared with previous reports of cutaneous MCTs. Eighty-eight percent of the dogs either died or were euthanatized because of their tumors. Organs commonly involved at necropsy included lymph nodes, spleen, liver, and bone marrow; four dogs had gastroduodenal ulcers.
 ...
PMID:Systemic mastocytosis in 16 dogs. 350 91

Mast cell sarcoma is a rare disease. We report an unusual case of this neoplasm arising in the ascending colon of a 32-year-old Japanese woman who presented with abdominal pain. An ulcerating mass in the colon was resected, along with enlarged mesenteric lymph nodes. Two years after surgery, the neoplasm recurred as left cervical lymphadenopathy and an intra-abdominal mass. Despite predonine and radiation therapy, the disease progressed, and the patient died. The tumor cells had abundant fine granular or clear cytoplasm, and oval, lobulated, or indented nuclei. Numerous mature eosinophils were intermingled with the tumor cells. Immunohistologic studies on paraffin sections demonstrated that the majority of the tumor cells were strongly positive for CD45RB, CD68, and mast cell tryptase. They were unreactive, however, with a broad spectrum of antibodies against myelomonocytic and lymphocytic antigens. The mast cell nature of this rare type of tumor can be best identifiable by immunostains for mast cell tryptase.
 ...
PMID:Mast cell sarcoma with tissue eosinophilia arising in the ascending colon. 1043 Feb 80

A 6-week-old boy was referred with a generalized bullous rash since birth. Examination revealed bullous mastocytosis with initially no evidence of systemic involvement. Hepatosplenomegaly was noted at 6 months, and at 12 months he was found to have generalized lymphadenopathy. He developed bouts of vomiting associated with increased blistering. At 17 months he had sudden collapse following a brief bout of vomiting and was apneic and asystolic on arrival at the emergency department. The cause of death was attributed to massive hypotension secondary to mast cell degranulation. Although childhood mastocytosis has a favorable course in general, the subset of children with congenital bullous mastocytosis is at higher risk of sudden death and a more guarded prognosis should be given.
 ...
PMID:Bullous mastocytosis: a fatal outcome. 1063 43

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.
 ...
PMID:[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]. 1223 4

Mastocytosis comprises a heterogeneous group of disorders characterized by proliferation and accumulation of mast cells in 1 or more organ systems. Mast cell leukemia (MCL) is an extremely rare subtype of mastocytosis in which a leukemic spread of mast cells and a rapid progression of disease is seen. In typical cases, mast cells are found in the peripheral blood. However, an aleukemic variant of MCL (formerly termed malignant mastocytosis) has also been described. We here report a case of aleukemic MCL with abnormal immunophenotype of mast cells and the classical c-kit point mutation Asp-816-Val (=D816V). The 75-year-old male patient had a short history of weight loss and lymphadenopathy. There were no urticaria pigmentosa-like skin lesions. The bone marrow was diffusely infiltrated with atypical mast cells that comprised more than 80% of all nucleated cells on a bone marrow smears. As assessed by immunohistochemistry, neoplastic mast cells expressed tryptase, chymase, CD2, CD25, CD68, and the KIT protein (CD117). Mutation analysis revealed the c-kit mutation D816V. Since circulating mast cells could not be detected in the peripheral blood, the diagnosis of aleukemic MCL was established in accordance to the updated WHO consensus classification. This case further supports the notion that the pathogenesis (c-kit mutation D816V) in MCL is closely related to that found in indolent mast cell disorders. However, additional (but yet unknown) molecular (genetic) defects have to be considered to explain the extremely heterogenous clinical course in these patients.
 ...
PMID:Aleukemic mast cell leukemia with abnormal immunophenotype and c-kit mutation D816V. 1551 20

A 64-year-old man was diagnosed as having urticaria pigmentosa in 1998, and treated with PUVA therapy. In January 2002, X-ray imaging revealed osteosclerosis was detected in the systemic bone and bone scintigraphy. A bone marrow aspiration sample was not obtained due to a dry tap. CT scans showed hepatosplenomegaly and mesenteric lymphadenopathy. Myelofibrosis and diffuse mast cell infiltration were revealed by a bone marrow biopsy, and a diagnosis of systemic mastocytosis with severe osteosclerosis and myelofibrosis was made. In October 2003, he was admitted to our hospital because of mid back pain. A neurological examination showed muscle weakness in the upper and lower limbs, sensory disturbance below the level of Th4 and urinary obstruction. T1 and T2 weighted images of MRI demonstrated a high intensity epidural mass lesion extending from the vertebral level of C5 to Th2 and severely compressing the spinal cord. We considered the possibility of the invasion of the spinal canal by the mastocytosis. The patient was treated with interferon alpha-2b (IFN-alpha2b) and prednisolone. Subsequently, the motor and sensory disturbances were gradually alleviated, and spinal MRI confirmed a marked reduction in the size of the epidural tumor. However, the patient became resistant to interferon, and died of multiple organ failure in spite of steroid pulse and cladribine therapies. Multiple organ infiltration by mast cells was revealed at autopsy.
 ...
PMID:[Case of intraspinal epidural tumor developing after systemic mastocytosis with marked osteosclerosis and myelofibrosis]. 1644 Jul 79

Presented are two cases of systemic mastocytosis in 46- and 63-year-old women, where the correct diagnosis was established in randomly disclosed cervical respectively intraabdominal lymphadenopathy. Both cases lacked characteristic skin and systemic mast-cell mediator symptoms at the time of histologic diagnosis. The first case was classified as a indolent systemic mastocytosis without any proven genetic alteration, the second one met the criteria of aggressive systemic mastocytosis with eosinophilia, where the point mutation asp816val in c-kit gene was confirmed and the patient responded unexpectedly well to Gleevec. Discussed are both conventional morphological differential diagnosis of mastocytosis in lymph nodes and recent advances in genetics of these systemic clonal mast cell proliferations. The latter not only outlines the oncopathogenesis but, in particular, also provides important prognostic and biological implications of this peculiar disease.
 ...
PMID:[Isolated lymphadenopathy as the first presentation of systemic mastocytosis--description of two cases]. 1650


1 2 Next >>