| Written | 1998-09 | Lidia Larizza, Alessandro Beghini |
| | Medical Genetics, San Paolo School of Medicine, University of Milan Via A. di Rudini, 8, 20142 Milano, Italy |
| Updated | 2000-06 | Lidia Larizza, Alessandro Beghini |
| | Medical Genetics, San Paolo School of Medicine, University of Milan Via A. di Rudini, 8, 20142 Milano, Italy |
| Phenotype / cell stem origin |
mast cell |
| Etiology | involvement of KIT/SCF has been demonstrated in a few cases, but the diversity of the clinical pattern has not yet been elucidated;increased soluble SCF has been reported in the skin of patient with indolent mastocytosis; c-KIT mutations have been identified in patients with all forms of sporadic mastocytosis. |
| Clinics | indolent mastocytosis involves the skin, bone marrow and gastrointestinal tract; clinical features range from a single cutaneous nodule to multiple pigmented macules resulting from increased epidermal melanin and papules (urticaria pigmentosa) or diffuse cutaneous involvement; bullae, vescicles and abnormal telangiectasia may be seen; gastrointestinal involvement leads to symptoms such as nausea, vomiting and abdominal pain. in mastocytosis with an associated hematological disorder the urticaria pigmentosa symptoms are accompanied by a variety of haematological findings due to mast cell infiltrates to bone marrow, spleen, liver and lymph nodes. mast cell leukemia is characterized by proliferation and infiltration of immature mast cells in bone marrow, peripheral blood and various extramedullary tissues. aggressive mastocytosis is characterized by aggressive involvement of several haematopoietic organs |
| Pathology | accumulation of mast cells in various organs and release of mast cell mediators which are responsible for the different clinical signs |
| Prognosis | highly dependent on the form being severe, often fatal, in all types with the exception of the indolent form |
| In vivo differentiation of mast cells from acute myeloid leukemia blasts carrying a novel activating ligand-independent C-kit mutation. |
| Beghini A, Cairoli R, Morra E, Larizza L |
| Blood cells, molecules & diseases. 1998 ; 24 (2) : 262-270. |
| PMID 9714703 |
| |
| Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. |
| Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, Koshimizu U, Sugahara H, Butterfield JH, Ashman LK, Kanayama Y |
| The Journal of clinical investigation. 1993 ; 92 (4) : 1736-1744. |
| PMID 7691885 |
| |
| Altered metabolism of mast-cell growth factor (c-kit ligand) in cutaneous mastocytosis. |
| Longley BJ Jr, Morganroth GS, Tyrrell L, Ding TG, Anderson DM, Williams DE, Halaban R |
| The New England journal of medicine. 1993 ; 328 (18) : 1302-1307. |
| PMID 7682288 |
| |
| Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. |
| Longley BJ, Tyrrell L, Lu SZ, Ma YS, Langley K, Ding TG, Duffy T, Jacobs P, Tang LH, Modlin I |
| Nature genetics. 1996 ; 12 (3) : 312-314. |
| PMID 8589724 |
| |
| Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. |
| Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, Metcalfe DD |
| Proceedings of the National Academy of Sciences of the United States of America. 1995 ; 92 (23) : 10560-10564. |
| PMID 7479840 |
| |
| A new c-kit mutation in a case of aggressive mast cell disease. |
| Pignon JM, Giraudier S, Duquesnoy P, Jouault H, Imbert M, Vainchenker W, Vernant JP, Tulliez M |
| British journal of haematology. 1997 ; 96 (2) : 374-376. |
| PMID 9029028 |
| |
| Bcl10 can promote survival of antigen-stimulated B lymphocytes. |
| Tian MT, Gonzalez G, Scheer B, DeFranco AL |
| Blood. 2005 ; 106 (6) : 2105-2112. |
| PMID 15878976 |
| |
