Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023418 (leukemia)
 93,477 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mastocytoses are diseases caused by proliferating mast cells infiltrating one or more organs. The spectrum of mastocytosis includes the cutaneous forms urticaria pigmentosa and solitary mastocytoma (about 90% of mastocytoses) and systemic forms affecting other organs. Infiltrates are most often found in the bone marrow, spleen, lymph nodes and liver, but any organ may be affected. Patients with systemic mastocytosis may or may not have urticaria pigmentosa. About 35% of patients without urticaria pigmentosa have an associated malignant haematological disease and a poor prognosis. Symptoms caused by mast cell mediator release are best treated with antihistamines, but several other drugs may be used if the response is unsatisfactory. Many antineoplastic drugs have been tried to combat aggressive mastocytoses and mast cell leukaemia, but the results have been disappointing.
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PMID:[Mastocytosis]. 195 56

Blood findings in 61 cases of generalized mastocytosis (GM) were evaluated. The cases were divided into two major variants: Systemic mastocytosis (SM; n = 34) with urticaria pigmentosa-like skin lesions, and malignant mastocytosis (MM; n = 27), without skin involvement. The following results were obtained: (1) Significant differences between MM and SM were found in the main haematological parameters (erythrocyte, platelet and leucocyte counts and haemoglobin level); normal values were found in 16 of the SM cases, but never in MM. (2) The main pathological findings were: in SM, anaemia (9/34) and leucocytosis (5/34); and in MM, leucocytosis (19/27), monocytosis (14/27), eosinophilia (12/27), bicytopenia (12/27, mostly anaemia with thrombocytopenia), basophilia (10/27) and isolated anaemia (7/27). (3) The major finding was a significant difference between MM and SM in the incidence of myeloproliferative disorders (MPD), myelodysplasia and mast cell leukaemia (MCL): these disorders occurred in 23 (92%) MM patients, but only in two (6%) SM patients (P less than 0.001). The four instances of MCL and two of myelodysplasia all occurred with MM. Of the 19 cases of MPD, six (SM, 1; MM, 5) were acute variants (acute myeloid and myelomonocytic leukaemias) and 13 (SM, 1; MM, 12) were chronic variants. No case of malignant lymphoma was noted. (4) The blood picture in 10 of 13 chronic MPD cases represented an atypical chronic myeloid leukaemia for which the preliminary descriptive term 'mastocytosis-associated MPD' is proposed. (5) A survey of 103 published cases (SM, 77; MM, 26) yielded similar findings, including a high incidence of MPD and MCL in MM. These findings add further weight to the argument for recognizing SM and MM as two separate entities.
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PMID:Blood findings in generalized mastocytosis: evidence of frequent simultaneous occurrence of myeloproliferative disorders. 201 71

Mast cells (MC) are regular constituents of soft tissue and occur with varying frequency in nearly every organ. They derive from monocytic cells occurring in the adhering mononuclear fraction of the peripheral blood. Their subsequent evolution into mature MCs is primed by a MC generating lymphokine released by sensitized T-cells on restimulation by the antigen. MC granules contain preformed heparin histamine and eosinophil chemotactic factors. Other factors such as leukotriene B4 can be produced by MCs following stimulation. This is the case during the initial phase of nonspecific inflammations, when MCs are stimulated by complement activation. In the immediate type hypersensitivity reaction giving rise to IgE, MC degranulation occurs independent from complement. In IgG and IgM mediated reactions, however, MC involvement is effected by complement consumption and C5 a generation. In delayed type hypersensitivity MCs increase locally. Their functional significance remains obscure. MC neoplasias are rare and generally confined to the dermis. Cutaneous mastocytoses are called benign mastocytoma when localized and urticaria pigmentosa when disseminated. Generalized mastocytosis involves extracutaneous tissue irrespective of skin involvement. Those associated with urticaria pigmentosa-like skin lesions, present at the onset of the disease, have a significantly higher survival rate than those lacking a primary skin involvement. The term urticaria pigmentosa should be reserved for cases of cutaneous mastocytosis without extracutaneous involvement. Cases of mastocytoses lacking primary skin lesions assume a malignant course and are additionally aggravated by high incidence of myeloproliferative disorders and MC leukemia. MC sarcoma is an extremely rare neoplasia of MCs which may also terminate as a MC leukemia.
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PMID:Tissue mast cells in health and disease. 258 3

A 29-yr old woman developed urticaria pigmentosa which subsequently progressed through systemic mastocytosis to Philadelphia chromosome negative (Ph neg) chronic myelogenous leukemia (CML) with t(8;17). Further cytogenetic evolution occurred at the time of transformation to the aggressive phase of the disease. Unlike Ph-positive CML, chromosome number 9 was not involved, nor was the breakpoint cluster region located at band 22q11. This clearly separates this case from other Ph-negative CML patients who do have involvement of 9q34 or the breakpoint cluster region. Since this is the first case of its type to be reported with cytogenetic abnormalities, the clinical relevance of the unique chromosomal rearrangement t(8;17)(p11;q25) in the setting of systemic mastocytosis is unclear. Additional cases need to be reported to determine if this genetic rearrangement is a nonrandom marker of leukemia evolving in a setting of malignant mast cell disease.
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PMID:Mast cell disease followed by leukemia with clonal evolution. 311 98

A preleukemic syndrome, mast cell hyperplasia in the bone marrow, and urticaria pigmentosa simultaneously developed in a 76-year-old woman. A year later, the patient died of acute myelomonoblastic leukemia. These associations provide evidence favoring the origin of the tissue mast cell from a bone marrow stem cell.
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PMID:Preleukemia and urticaria pigmentosa followed by acute myelomonoblastic leukemia. 385 21

The neoplastic proliferation of tissue mast cells constitutes a group of rare diseases that have localized and systemic variants. The cytologic (n = 7) and histologic (n = 38) findings in bone marrow from a total of 45 patients with systemic mastocytosis were evaluated. Three distinct histologic patterns of marrow involvement were distinguished. In 21 cases a patchy or focal infiltration pattern was encountered. Mast cell aggregates were located predominantly in peritrabecular and perivascular areas. The adjacent trabeculae were thickened. A dense network of reticulin fibers and foci of lymphocytes accompanied the mast cell infiltrates. Increased numbers of eosinophils frequently demarcated the mast cell infiltrates from the surrounding tissue. In the noninfiltrated marrow areas hematopoiesis and the distribution of fat cells appeared to be normal. This histologic pattern, designated type 1, was observed exclusively in patients showing primary involvement of the skin, indistinguishable from urticaria pigmentosa. In 14 additional cases peritrabecular and perivascular sheets of mast cells, with concomitant fibrosis and osteosclerosis, were also present. Unlike the findings in type 1, however, the noninfiltrated marrow areas showed marked reductions in fat cell content and markedly increased granulocytopoiesis or increased numbers of blast cells (infiltration pattern type 2). On the basis of the hematologic and clinical findings, chronic myeloid leukemia was diagnosed in six of these cases, myelomonocytic leukemia in three cases, and acute myeloid leukemia in two cases. The bone marrow of three patients was diffusely infiltrated by atypical mast cells, leading to marked hypoplasia of fat cells and blood cell precursors. These histologic features were identified as infiltration pattern type 3. The diagnosis of mast cell leukemia was confirmed in all three cases by the presence of numerous mast cells in the blood. The prognosis for patients with the type 1 marrow infiltration pattern and primary skin involvement was favorable (actuarial survival rate five years after diagnosis, 0.75). This variant was called benign systemic mastocytosis. Primary skin involvement did not occur in the patients with type 2 or 3 infiltration patterns. The prognosis for these patients was poor (actuarial survival five years after diagnosis, 0.17 for type 2 and 0.00 for type 3). These two forms were accordingly designated malignant systemic mastocytosis.
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PMID:Bone marrow findings in systemic mastocytosis. 386 Apr 69

A 37-year-old female developed what appeared to be the typical cutaneous manifestations of urticaria pigmentosa. These preceded the peripheral blood changes of acute null cell lymphoblastic leukaemia and skin biopsy revealed that the cutaneous changes were due to leukaemic infiltration. Chemotherapy resulted in clearance of the rash. The importance of skin biopsy in patients presenting with suspected urticaria pigmentosa is emphasized.
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PMID:A cutaneous manifestation of acute lymphoblastic leukaemia mimicking urticaria pigmentosa. 658 73

Six patients had hematologic malignancies and coincident urticaria pigmentosa, five with the disseminated maculopapular form and one with the plaque form. Two patients had the juvenile-onset variety; the remainder had the adult eruptive variety. None of the patients complained of symptoms that could be attributed to liberation of histamine. In the two patients with juvenile-onset urticaria pigmentosa, the hematologic malignancies developed at the age of 17 years; one had Hodgkin's disease, and the other had acute myelomonocytic leukemia. In three patients with adult eruptive urticaria pigmentosa, the cutaneous lesions developed within 12 months of the diagnoses of lymphocytic lymphoma (two patients) and evolving myelomonocytic leukemia (one patient). In the remaining patient, cutaneous lesions developed many years before chronic lymphocytic leukemia was diagnosed. None of the patients had systemic mastocytosis. Skin biopsy specimens from all six patients showed an increase in dermal and perivascular round cells, and mast cells were seen in specimens from five of the six patients. In patients who received cytotoxic drugs for the hematologic malignancy, there was no change in the urticaria pigmentosa.
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PMID:Hematologic malignancies occurring in patients with urticaria pigmentosa. 695 22

The syndrome of mastocytosis extends from cutaneous urticaria pigmentosa through systemic mastocytosis to the rarely occurring mast cell leukaemia. Our investigations with a large patient collective have shown that systemic forms of the disease occur more often than is generally supposed. In particular the incidence of bone marrow manifestations deserve more attention. The inflammatory-granulomatous findings in the bone marrow suggest an immunoactive component in the pathogenesis of this disease. The bone lesions that occur in about 50% of patients are probably the result of the common endosteal site of the mastocytosis granuloma. These lesions can be generalized (osteoporosis-osteosclerosis) or localized (osteolytic-osteosclerotic foci). In clinical practice bone biopsy and skeletal radiology complement one another; in addition to skin biopsy bone biopsy supplies the initial diagnosis of mastocytosis and documents systemic manifestation; the X-ray picture informs the clinician about the type and extent of the bone pathology.
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PMID:[Skin and bone findings in mastocytosis]. 715 88

Childhood urticaria pigmentosa is generally considered to have a good prognosis with the majority of cases undergoing spontaneous resolution. However, there have been a number of reports of haematological malignancies occurring in association with urticaria pigmentosa. We describe a child with extensive urticaria pigmentosa and a congenital cardiac anomaly who developed acute lymphoblastic leukaemia and suggest a possible common aetiology.
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PMID:Urticaria pigmentosa and acute lymphoblastic leukaemia. 756 54


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