Mastocytosis. Review of the literature and description of clinical cases
The term mastocytosis (MC) encompasses a group of rare diseases characterized by the tumorous proliferation of clonal mast cells and the infiltration of one or several organs. The clinical picture of MC is extremely diverse from skin lesions that can spontaneously regress to the aggressive disease f...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
"Consilium Medicum" Publishing house
2014-12-01
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| Series: | Терапевтический архив |
| Subjects: | |
| Online Access: | https://ter-arkhiv.ru/0040-3660/article/view/31642 |
| _version_ | 1828162958875688960 |
|---|---|
| author | A L Melikian I N Subortseva S R Goriacheva T I Kolosheĭnova M V Vakhrusheva A M Kovrigina A B Sudarikov V N Dvirnyk T N Obukhova |
| author_facet | A L Melikian I N Subortseva S R Goriacheva T I Kolosheĭnova M V Vakhrusheva A M Kovrigina A B Sudarikov V N Dvirnyk T N Obukhova |
| author_sort | A L Melikian |
| collection | DOAJ |
| description | The term mastocytosis (MC) encompasses a group of rare diseases characterized by the tumorous proliferation of clonal mast cells and the infiltration of one or several organs. The clinical picture of MC is extremely diverse from skin lesions that can spontaneously regress to the aggressive disease forms associated with organ dysfunction and short survival. Nowadays, the 2008 WHO classification identifies 7 MC subtypes. The disease is diagnosed on the basis of its clinical manifestations and detection of tumorous mast cell infiltrations via morphological, immunohistochemical, immunophenotypic, genetic, and molecular examinations. Abnormal mast cells are characterized by the atypical morphology and pathological expression of CD25 and CD2 antigens. Enhanced serum tryptase activity is a common sign in all MC subtypes. More than 90% of the patients have D816V KIT mutations in the mast cells. This paper reviews the literature. Three cases are described as a clinical example in patients with different MC subtypes. |
| first_indexed | 2024-04-12T01:01:43Z |
| format | Article |
| id | doaj.art-e5078b08a1ec468b92897ee4ac3af83d |
| institution | Directory Open Access Journal |
| issn | 0040-3660 2309-5342 |
| language | Russian |
| last_indexed | 2024-04-12T01:01:43Z |
| publishDate | 2014-12-01 |
| publisher | "Consilium Medicum" Publishing house |
| record_format | Article |
| series | Терапевтический архив |
| spelling | doaj.art-e5078b08a1ec468b92897ee4ac3af83d2022-12-22T03:54:25Zrus"Consilium Medicum" Publishing houseТерапевтический архив0040-36602309-53422014-12-01861212713428658Mastocytosis. Review of the literature and description of clinical casesA L MelikianI N SubortsevaS R GoriachevaT I KolosheĭnovaM V VakhrushevaA M KovriginaA B SudarikovV N DvirnykT N ObukhovaThe term mastocytosis (MC) encompasses a group of rare diseases characterized by the tumorous proliferation of clonal mast cells and the infiltration of one or several organs. The clinical picture of MC is extremely diverse from skin lesions that can spontaneously regress to the aggressive disease forms associated with organ dysfunction and short survival. Nowadays, the 2008 WHO classification identifies 7 MC subtypes. The disease is diagnosed on the basis of its clinical manifestations and detection of tumorous mast cell infiltrations via morphological, immunohistochemical, immunophenotypic, genetic, and molecular examinations. Abnormal mast cells are characterized by the atypical morphology and pathological expression of CD25 and CD2 antigens. Enhanced serum tryptase activity is a common sign in all MC subtypes. More than 90% of the patients have D816V KIT mutations in the mast cells. This paper reviews the literature. Three cases are described as a clinical example in patients with different MC subtypes.https://ter-arkhiv.ru/0040-3660/article/view/31642cutaneous mastocytosissystemic mastocytosismast cell leukemiad816v kit mutationimatinib |
| spellingShingle | A L Melikian I N Subortseva S R Goriacheva T I Kolosheĭnova M V Vakhrusheva A M Kovrigina A B Sudarikov V N Dvirnyk T N Obukhova Mastocytosis. Review of the literature and description of clinical cases Терапевтический архив cutaneous mastocytosis systemic mastocytosis mast cell leukemia d816v kit mutation imatinib |
| title | Mastocytosis. Review of the literature and description of clinical cases |
| title_full | Mastocytosis. Review of the literature and description of clinical cases |
| title_fullStr | Mastocytosis. Review of the literature and description of clinical cases |
| title_full_unstemmed | Mastocytosis. Review of the literature and description of clinical cases |
| title_short | Mastocytosis. Review of the literature and description of clinical cases |
| title_sort | mastocytosis review of the literature and description of clinical cases |
| topic | cutaneous mastocytosis systemic mastocytosis mast cell leukemia d816v kit mutation imatinib |
| url | https://ter-arkhiv.ru/0040-3660/article/view/31642 |
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