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Veterinary and Comparative Oncology Mar 2019In humans, advanced mast cell (MC) neoplasms are rare malignancies with a poor prognosis. Only a few preclinical models are available, and current treatment options are... (Review)
Review
In humans, advanced mast cell (MC) neoplasms are rare malignancies with a poor prognosis. Only a few preclinical models are available, and current treatment options are limited. In dogs, MC neoplasms are the most frequent malignant skin tumours. Unlike low-grade MC neoplasms, high-grade MC disorders usually have a poor prognosis with short survival. In both species, neoplastic MCs display activating KIT mutations, which are considered to contribute to disease evolution. Therefore, tyrosine kinase inhibitors against KIT have been developed. Unfortunately, clinical responses are unpredictable and often transient, which remains a clinical challenge in both species. Therefore, current efforts focus on the development of new improved treatment strategies. The field of comparative oncology may assist in these efforts and accelerate human and canine research regarding diagnosis, prognostication, and novel therapies. In this article, we review the current status of comparative oncology approaches and perspectives in the field of MC neoplasms.
Topics: Animals; Antineoplastic Agents; Dog Diseases; Dogs; Humans; Mastocytoma; Species Specificity
PubMed: 30136349
DOI: 10.1111/vco.12440 -
Clinical Pediatrics Jan 1974
Topics: Biopsy; Child, Preschool; Diagnosis, Differential; Erythema; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Mast Cells; Mast-Cell Sarcoma; Shoulder; Skin Neoplasms; Thigh
PubMed: 4203516
DOI: 10.1177/000992287401300108 -
International Journal of Dermatology May 2023Mastocytosis is a heterogeneous group of rare disorders characterized by the accumulation of clonal mast cells in organs such as the skin and bone marrow. The diagnosis...
BACKGROUND
Mastocytosis is a heterogeneous group of rare disorders characterized by the accumulation of clonal mast cells in organs such as the skin and bone marrow. The diagnosis of cutaneous mastocytosis (CM) is based on clinical findings, positive Darier's sign, and histopathology, if necessary.
METHODS
Medical records of 86 children with CM diagnosed during a 35-year long period were reviewed. Most patients (93%) developed CM during the first year of life (median age 3 months). Clinical features at presentation and during the follow-up period were analyzed. Baseline serum tryptase level was measured in 28 patients.
RESULTS
A total of 85% of patients had maculopapular cutaneous mastocytosis/urticaria pigmentosa (MPCM/UP), 9% had mastocytoma, and 6% had diffuse cutaneous mastocytosis (DCM). Boy to girl ratio was 1.1:1. Fifty-four of 86 patients (63%) were followed from 2 to 37 years (median 13 years). Complete resolution was registered in 14% of mastocytoma cases, 14% of MCPM/UP, and in 25% of DCM patients. After the age of 18, skin lesion persisted in 14% mastocytoma, 7% MCPM/UP, and 25% children with DCM. Atopic dermatitis was diagnosed in 9.6% of patients with MPCM/UP. Three of 28 patients had elevated serum tryptase. Prognosis in all patients was good, and there were no signs of progression to systemic mastocytosis (SM).
CONCLUSION
To the best of our knowledge, our results represent the longest single-center follow-up study of childhood-onset CM. We found no complications of massive mast cell degranulation or progression to SM.
Topics: Male; Female; Humans; Child; Infant; Follow-Up Studies; Tryptases; Mastocytosis; Urticaria Pigmentosa; Mastocytosis, Cutaneous; Mast Cells; Mastocytosis, Systemic; Mastocytoma
PubMed: 36807903
DOI: 10.1111/ijd.16612 -
Clinical Pediatrics Oct 2008Cutaneous mastocytosis can be divided into 4 different clinical variants--urticaria pigmentosa, solitary mastocytoma, diffuse cutaneous mastocytosis, and telangiectasia... (Review)
Review
Cutaneous mastocytosis can be divided into 4 different clinical variants--urticaria pigmentosa, solitary mastocytoma, diffuse cutaneous mastocytosis, and telangiectasia macularis eruptiva perstans. Skin findings are often accompanied by symptoms secondary to mast cell release of mediators. These symptoms can be both localized to the skin lesion and systemic because of the release of mediators into the bloodstream. The majority of pediatric cases of cutaneous mastocytosis show a good prognosis with gradual resolution of both symptoms and skin lesions. This article will review each of the 4 clinical presentations focusing on pediatric-onset of disease while reviewing the literature.
Topics: Child; Diagnosis, Differential; Humans; Mastocytosis, Cutaneous; Prognosis
PubMed: 18502981
DOI: 10.1177/0009922808318344 -
Schweizer Archiv Fur Tierheilkunde May 1979
Topics: Animals; Female; Horse Diseases; Horses; Mast Cells; Mast-Cell Sarcoma; Necrosis; Skin Neoplasms
PubMed: 109918
DOI: No ID Found -
Journal of Clinical Medicine Aug 2022The term mastocytosis refers to a heterogeneous group of disorders characterised by accumulation of clonal mast cells in different organs, most commonly in the skin.... (Review)
Review
The term mastocytosis refers to a heterogeneous group of disorders characterised by accumulation of clonal mast cells in different organs, most commonly in the skin. Little is known about the role of dermoscopy in the diagnostics of mastocytosis. To date, no systematic review on the dermoscopic features of cutaneous mastocytosis has been performed. The aim of this study was to summarise the current knowledge in the field as well as to identify the knowledge gaps to show possible directions for further studies, based on a systematic search of PubMed, Scopus, and Web of Science databases and related references published before 3 January 2022. Dermoscopic features, type of dermoscope, polarisation mode, magnification, and number of cases were analysed. In total, 16 articles were included in this review (3 case series and 13 case reports), analysing 148 patients with different variants of cutaneous mastocytosis; all of the studies analysed had a low level of evidence (V). The main dermoscopic features of urticaria pigmentosa included brown structureless areas, brown lines arranged in a network, and linear vessels distributed in a reticular pattern, with this last finding also being typical of telangiectasia macularis eruptiva perstans. The presence of either circumscribed yellow structureless areas or diffuse yellowish background was a constant pattern of mastocytoma, while nodular, pseudoangiomatous xanthelasmoid, and plaque-type mastocytosis were typified by light-brown structureless areas and/or pigment network, though the first two variants also showed yellow/yellow-orange structureless areas. Finally, pigmented streaks of radial distribution surrounding hair follicles were described to be a pathognomonic dermoscopic feature of pseudoxanthomatous mastocytosis. Although this review shows that the various clinical forms of cutaneous mastocytosis may feature diagnostic dermoscopic clues, it also underlines the need for further investigation as several relevant data are missing, including evaluation of dermoscopic pattern according to anatomical locations or "lesion age", studies on rare mastocytosis variants, evaluation of the prognostic role of dermoscopy in the context of systemic involvement, and comparative analyses with common clinical mimickers.
PubMed: 36012900
DOI: 10.3390/jcm11164649 -
Journal of Cutaneous Pathology Jun 2019
Topics: Eosinophils; Humans; Infant; Male; Mastocytoma, Skin
PubMed: 31034654
DOI: 10.1111/cup.13452 -
Journal of the American Academy of... Dec 2020
Topics: Child; Dermoscopy; Diagnosis, Differential; Humans; Mastocytoma, Skin; Microscopy, Confocal; Nevus, Epithelioid and Spindle Cell; Skin; Skin Neoplasms; Xanthogranuloma, Juvenile
PubMed: 32276049
DOI: 10.1016/j.jaad.2020.03.091 -
Modern Pathology : An Official Journal... Jan 2014Adult-onset urticaria pigmentosa/mastocytosis in the skin almost always persists throughout life. The prevalence of systemic mastocytosis in such patients is not...
Adult-onset urticaria pigmentosa/mastocytosis in the skin almost always persists throughout life. The prevalence of systemic mastocytosis in such patients is not precisely known. Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). Systemic mastocytosis is diagnosed when the major diagnostic criterion plus one minor criterion or at least three minor criteria are fulfilled. Systemic mastocytosis was confirmed in 57 patients (97%) by the diagnosis of compact mast cell infiltrates plus at least one minor diagnostic criterion (n=42, 71%) or at least three minor diagnostic criteria (n=15, 25%). In two patients, only two minor diagnostic criteria were detectable, insufficient for the diagnosis of systemic mastocytosis. By the use of highly sensitive molecular methods, including the analysis of microdissected mast cells, KIT D816V was found in all 58 bone marrow biopsies investigated for it but only in 74% (20/27) of the skin biopsies. It is important to state that even in cases with insufficient diagnostic criteria for systemic mastocytosis, KIT D816V-positive mast cells were detected in the bone marrow. This study demonstrates, for the first time, that almost all patients with adult-onset mastocytosis in the skin, in fact, have systemic mastocytosis with cutaneous involvement.
Topics: Adolescent; Adult; Age of Onset; Biomarkers; Biopsy; Bone Marrow Examination; DNA Mutational Analysis; Female; Humans; Immunohistochemistry; Interleukin-2 Receptor alpha Subunit; Male; Mast Cells; Mastocytoma, Skin; Mastocytosis, Systemic; Microdissection; Middle Aged; Mutation; Predictive Value of Tests; Proto-Oncogene Proteins c-kit; Skin; Tryptases; Young Adult
PubMed: 23807778
DOI: 10.1038/modpathol.2013.117 -
Bulletin de La Societe Francaise de... 1954
Topics: Hematologic Neoplasms; Humans; Mast Cells; Mastocytoma; Mastocytosis, Cutaneous; Skin Neoplasms
PubMed: 13219572
DOI: No ID Found