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Dermatology Practical & Conceptual Jul 2016Mastocytosis is either cutaneous (with skin-limited proliferation of mast cells) or systemic (with mast cells in extracutaneous sites). The onset of solitary mastocytoma... (Review)
Review
BACKGROUND
Mastocytosis is either cutaneous (with skin-limited proliferation of mast cells) or systemic (with mast cells in extracutaneous sites). The onset of solitary mastocytoma in an adult is rare.
PURPOSE
A woman with the new onset of solitary mastocytoma is described. The clinical features of patients with adult-onset solitary mastocytoma are summarized. Recommendations for the evaluation and treatment of individuals with adult-onset solitary mastocytoma are proposed.
METHODS
PubMed was searched with the key words: adult, CD2, CD25, cell, cutaneous, disease, KIT, KIT D816V, mast, mastocytoma, mutation, pigmentosa, solitary, tryptase, and urticarial. The papers generated by the search, and their references, were reviewed.
RESULTS
A 38-year-old Taiwanese woman presented with an asymptomatic brown patch, which morphologically mimicked a dysplastic nevus, on her right abdomen; biopsy demonstrated a solitary mastocytoma. Comprehensive evaluation (including serologic and bone marrow examination) excluded systemic mastocytosis and her residual mastocytoma is being monitored. Adult-onset solitary mastocytoma has been described in 16 patients. Lesions were either on the head and neck (5/14), torso (5/14) or extremities (4/14). Urtication following lesion rubbing was noted in 79% (11/14) of patients. Excision of the mastocytoma [75% (9/12)] was the most common treatment. Other management approaches included corticosteroids (topical or intralesional), antihistamines (systemic) or observation. Systemic symptoms were noted in 5 patients: flushing (3 women) and pruritus (3 women); gastrointestinal symptoms and headaches, flushing and/or anaphylaxis were each noted in one woman. None of the patients with adult-onset solitary mastocytoma had systemic mastocytosis; however, only 3 women were evaluated for systemic mastocytosis.
CONCLUSIONS
Systemic mastocytosis is common in adults with new onset cutaneous mastocytosis. Therefore, a conservative work up for new onset solitary mastocytosis in adults is proposed to include complete blood cell counts, serum chemistries (including liver function tests), and serum tryptase level and bone marrow biopsy to evaluate for mast cell clusters, morphology and immunophenotype and KIT gene mutation in codon 816. Similar serologic testing should be considered annually for adult-onset solitary mastocytosis patients without systemic disease.
PubMed: 27648381
DOI: 10.5826/dpc.0603a07 -
Actas Dermo-sifiliograficas 2016Mastocytosis is a term used to describe a heterogeneous group of disorders characterized by clonal proliferation of mast cells in various organs. The organ most often... (Review)
Review
Mastocytosis is a term used to describe a heterogeneous group of disorders characterized by clonal proliferation of mast cells in various organs. The organ most often affected is the skin. Mastocytosis is a relatively rare disorder that affects both sexes equally. It can occur at any age, although it tends to appear in the first decade of life, or later, between the second and fifth decades. Our understanding of the pathophysiology of mastocytosis has improved greatly in recent years, with the discovery that somatic c-kit mutations and aberrant immunophenotypic features have an important role. The clinical manifestations of mastocytosis are diverse, and skin lesions are the key to diagnosis in most patients.
Topics: Female; Humans; Male; Mast Cells; Mastocytosis; Proto-Oncogene Proteins c-kit; Skin
PubMed: 26546030
DOI: 10.1016/j.ad.2015.09.007 -
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 -
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 -
Veterinary Pathology Mar 2022Mast cell tumors (MCTs) are one of the most common cutaneous malignancies in dogs. Previous studies have reported expression of mast cell-specific proteases chymase and...
Mast cell tumors (MCTs) are one of the most common cutaneous malignancies in dogs. Previous studies have reported expression of mast cell-specific proteases chymase and tryptase in canine cutaneous MCTs and in connective tissue and mucosal mast cells. In humans and rodents, mast cells express an additional specific protease, carboxypeptidase A3 (CPA3). In this article, we describe CPA3 immunoreactivity in connective tissue, visceral, mucosal, and neoplastic mast cells in dogs. Positive immunolabeling for CPA3 was observed in nonneoplastic mast cells in 20/20 formalin-fixed paraffin-embedded normal tissues (skin, liver, spleen, intestine), and in 63/63 MCTs irrespective of their histological grade. CPA3 protein expression was comparable to that of c-kit in both the nonneoplastic and neoplastic mast cells. Three distinct labeling patterns (membranous, diffuse, and focal cytoplasmic) were observed for CPA3 in MCTs. The focal cytoplasmic labeling pattern was associated with high-grade MCTs staged with the Kiupel 2-tier grading criteria. We propose CPA3 as a novel immunohistochemical marker for canine mast cells in health and disease.
Topics: Animals; Carboxypeptidases; Dog Diseases; Dogs; Mast Cells; Proto-Oncogene Proteins c-kit; Skin Neoplasms; Tryptases
PubMed: 34894899
DOI: 10.1177/03009858211062636 -
Clinical Endoscopy Nov 2022Extracutaneous mastocytoma is a rare benign tumor composed of mature mast cells and is located in tissues other than the skin. We report the case of a 61-year-old male...
Extracutaneous mastocytoma is a rare benign tumor composed of mature mast cells and is located in tissues other than the skin. We report the case of a 61-year-old male who was diagnosed with extracutaneous mastocytoma via colonoscopic polypectomy and biopsy. To our knowledge, this was the first case of a solitary extracutaneous mastocytoma of the colon. We reported this case and reviewed the literature.
PubMed: 34233110
DOI: 10.5946/ce.2021.003 -
Journal of the American Veterinary... Jan 2022To compare wound healing following planned marginal excision of cutaneous mast cell tumors (MCTs) with that of soft tissue sarcomas (STSs) and to identify risk factors...
Marginal excision of cutaneous mast cell tumors in dogs was not associated with a higher rate of complications or prolonged wound healing than marginal excision of soft tissue sarcomas.
OBJECTIVE
To compare wound healing following planned marginal excision of cutaneous mast cell tumors (MCTs) with that of soft tissue sarcomas (STSs) and to identify risk factors for wound healing complications and delay in healing.
ANIMALS
126 dogs that underwent intentional marginal excision of cutaneous MCTs (n = 77) or subcutaneous STSs (49).
PROCEDURES
Medical records of included dogs were reviewed and signalment, tumor size, tumor location, skin closure type, time to healing, reported complications, histopathological grade, and surgical margins were recorded. These variables and outcomes (complication rate and time to complete healing) were compared between dogs in the MCT and STS groups. Potential risk factors for complications and delayed healing were analyzed.
RESULTS
No significant difference between the groups was found in any of the variables. Wound healing complication rates were 29% (22/77) for the MCT group and 31% (15/49) for the STS group. The mean ± SD time to complete healing was 16.5 ± 7.5 days for the MCT group and 17.7 ± 9.3 days for the STS group. These outcomes did not differ significantly between groups. For both groups, the use of subdermal plexus flap reconstruction was associated with the development of complications and increased time to complete healing.
CLINICAL RELEVANCE
Marginal excision of cutaneous MCTs was not associated with a higher rate of complication or prolonged wound healing, compared with marginal excision of STSs. The use of flap reconstruction in skin closure may delay healing and planned adjuvant therapy. Owners should be counseled regarding these risks and where appropriate and feasible, surgery without reconstruction should be considered.
Topics: Animals; Dog Diseases; Dogs; Mast Cells; Mastocytoma, Skin; Neoplasm Recurrence, Local; Retrospective Studies; Sarcoma; Soft Tissue Neoplasms; Treatment Outcome; Wound Healing
PubMed: 35092664
DOI: 10.2460/javma.21.05.0235 -
Turk Pediatri Arsivi Jun 2015We aimed to retrospectively evaluate histopathological, demographic and clinical findings of children with mastocytosis diagnosed with mastocytosis in our clinic.
AIM
We aimed to retrospectively evaluate histopathological, demographic and clinical findings of children with mastocytosis diagnosed with mastocytosis in our clinic.
MATERIAL AND METHODS
The files of 21 patients diagnosed with mastocytosis between 2000 and 2014 in our clinic were retrospectively analyzed.
RESULTS
All patients had cutaneous mastocytosis, 19 patients had urticaria pigmentosa and 2 patients had mastocytoma. The male-female ratio was: 1/1.6. The median age for onset of disease was 12.1 months and the disease occured in the newborn period in 3 patients. While all patients had eruption, 10 patients had pruritis, 1 patient had a bullous formation, 1 patient had abdominal pain and 1 patient had attacks of redness throughout the body and a sense of burning in the chest. Two patients had a positive familial history. The diagnosis was confirmed with skin biopsy in all patients. The median follow up time of the patients were 5 years. The patients were treated with H1, H2 antihistaminics, local moisturizing creams and topical corticosteroid drugs. The lesions resolved completely in 4 patients who reached to puberty and 7 patients had marked improvement in a 5.5 year-follow-up period. Ten patients had stabile lesions in a 3.6 year-follow-up period.
CONCLUSIONS
Most cases of childhood mastocytosis are observed in the form of cutaneous mastocytosis. The prognosis is good; the disease limits itself and is prone to regress in the adolescent period.
PubMed: 26265895
DOI: 10.5152/tpa.2015.2332 -
Journal of Veterinary Diagnostic... Mar 2022Quantitative morphologic parameters assessed in cytologic samples of canine cutaneous mast cell tumors (ccMCTs) may assist with surgical planning and prognostication....
Quantitative morphologic parameters assessed in cytologic samples of canine cutaneous mast cell tumors (ccMCTs) may assist with surgical planning and prognostication. Robust cutoffs can be defined, with high reproducibility, for parameters such as the nuclear area (NA). The NA may be determined by morphometry (image analysis, NAI) or by stereology, such as the 2D-nucleator method (NAN); stereologic techniques have not been applied to cytologic specimens of ccMCT, to our knowledge. We retrospectively selected routine cytology smears from 51 ccMCT cases and screened them to determine the percentage of neoplastic mast cells with indistinct nuclear borders; this was repeated after the slides were restained with H&E. The NAI and the NAN were estimated in 100 mast cells per animal in H&E-stained slides. All nuclei were visible in H&E smears, and unbiased quantification was feasible. The NAN was similar to NAI, but less time-consuming. Both the NAN and NAI determined by cytology differed in histologic low- and high-grade ccMCTs, and in histologic grade I plus II versus grade III ccMCTs. Stereologic parameters such as the NAN could be considered as complementary techniques for the cytologic evaluation of ccMCTs.
Topics: Animals; Cytodiagnosis; Dog Diseases; Dogs; Mastocytoma, Skin; Reproducibility of Results; Retrospective Studies
PubMed: 34763591
DOI: 10.1177/10406387211058825 -
Journal of Veterinary Diagnostic... May 2022Better understanding of mast cell tumors (MCTs) in miniature pigs is needed to guide diagnosis and establish clinical significance. We characterized the gross pathology,...
Better understanding of mast cell tumors (MCTs) in miniature pigs is needed to guide diagnosis and establish clinical significance. We characterized the gross pathology, histopathology, histochemical staining, and KIT immunoreactivity of cutaneous MCTs in a retrospective descriptive study of 11 miniature pigs (). Tumors were single or multiple papules, small nodules, or plaques. In one pig, lymph nodes and internal organs were affected. Histologically, all MCTs involved the dermis, and some extended to the subcutis (4 of 11) and skeletal muscle (1 of 11). Most tumors were well-demarcated, unencapsulated, nodular or multinodular masses (8 of 11) and fewer were poorly demarcated plaques (3 of 11). Neoplastic cells were often well-differentiated with pale amphophilic-to-eosinophilic faintly granular cytoplasm, occasional binucleation, rare multinucleation, and a low mitotic count (<7 per 10 hpf; 10 of 11). Eosinophils were present in tumors in all cases. Cytoplasmic granules stained most consistently with high-pH (2.5-3) toluidine blue (9 of 10) compared to low-pH (0.5-1) toluidine blue (6 of 9) or Giemsa (7 of 10). KIT immunoreactivity patterns were strong perimembranous (4 of 8), focal perinuclear and stippled cytoplasmic (1 of 8), and diffuse cytoplasmic (3 of 8), and included 1 case that was negative for histochemical stains; hence, KIT is a promising diagnostic marker for MCTs in miniature pigs.
Topics: Animals; Mast Cells; Mastocytoma, Skin; Proto-Oncogene Proteins c-kit; Retrospective Studies; Skin Neoplasms; Swine; Swine Diseases; Swine, Miniature; Tolonium Chloride
PubMed: 35191338
DOI: 10.1177/10406387221079255