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      Radiotherapy for breast cancer associated with a cutaneous presentation of systemic mastocytosis—a case report and literature review

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          Abstract

          Ionizing radiation therapy is a common adjuvant therapy for individuals undergoing surgery for breast cancer. There are many well-recognized acute and chronic cutaneous reactions that can vary in severity, course and duration. We present a rare cutaneous manifestation of systemic mastocystosis, in a 59-year-old female who underwent adjuvant radiotherapy following local excision of ductal carcinoma in situ.

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          Most cited references10

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          Mastocytosis 2016: Updated WHO Classification and Novel Emerging Treatment Concepts.

          Over the past few years substantial advances have been made in understanding the pathogenesis, evolution, and complexity of mast cell neoplasms. New diagnostic and prognostic parameters and novel therapeutic targets with demonstrable clinical impact have been identified. A number of these new markers, molecular targets, and therapeutic approaches have been validated and translated into clinical practice. At the same time, the classification of mastocytosis and related diagnostic criteria have been refined and updated by the consensus group and the World Health Organization (WHO). As a result, more specific therapies tailored towards prognostic sub-groups of patients have been developed. Emerging treatment concepts employ drugs directed against KIT and other relevant targets in neoplastic mast cells, and will hopefully receive recognition by health authorities in the near future. The current article provides an overview of recent developments in the field, with emphasis on the updated WHO classification, refined criteria, additional prognostic parameters, and novel therapeutic approaches. Based on these emerging concepts, the prognosis, quality of life, and survival of patients with advanced mastocytosis are expected to improve in the coming years.
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            Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors.

            Clinical phenotype in systemic mastocytosis (SM) is markedly variable, which complicates prognostication and decision making regarding the choice and timing of therapy. In a retrospective study of 342 consecutive adult patients with SM seen at the Mayo Clinic between 1976 and 2007, disease subdesignation according to the World Health Organization (WHO) proposal was indolent (ISM) in 159 (46%), with associated clonal hematologic non-mast cell lineage disease (SM-AHNMD) in 138 (40%), aggressive (ASM) in 41 (12%), and mast cell leukemia in 4 (1%). KITD816V was detected in bone marrow-derived DNA by allele-specific polymerase chain reaction (PCR) in 68% of 165 patients evaluated (ISM, 78%; ASM, 82%; SM-AHNMD, 60%; P = .03); JAK2V617F was detected in 4%, all in SM-AHNMD. Compared with those with nonindolent SM, life expectancy in ISM was superior and not significantly different from that of the age- and sex-matched US population. In addition, multivariable analysis identified advanced age, weight loss, anemia, thrombocytopenia, hypoalbuminemia, and excess bone marrow blasts as independent adverse prognostic factors for survival. The current study validates the prognostic relevance of the WHO subclassification of SM and provides additional information of value in terms of both risk stratification and interpretation of clinical presentation and laboratory results.
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              Increased serum baseline tryptase levels and extensive skin involvement are predictors for the severity of mast cell activation episodes in children with mastocytosis.

              Despite the good prognosis of pediatric mastocytosis, some patients suffer from severe mast cell (MC) mediator-associated symptoms. The aim of this study was to identify predictors for severe MC mediator release symptoms in children with mastocytosis in the skin (MIS). Serum baseline total tryptase (sbT) levels in 111 children with MIS - 80 maculopapular cutaneous mastocytosis/plaque mastocytosis, 22 nodular mastocytosis, and nine diffuse cutaneous mastocytosis - were investigated as a predictive biomarker for the occurrence of MC mediator-related signs and symptoms within the first 18 months after disease onset. Twelve children (11%) who showed extensive cutaneous disease involving >90% of body surface area (BSA) suffered from severe symptoms requiring hospitalization, with (n = 5) or without (n = 6) management in the intensive care unit (ICU) owing to life-threatening complications. The median sbT was significantly (P < 0.001) higher in patients with extensive cutaneous disease vs those with <90% of BSA involved (45.5 vs 5.2 μg/l, respectively), as well as in children with grade 4 (severe mastocytosis-related symptoms requiring emergency therapy and hospitalization) vs those with grade <4 (46.2 vs 5.2 μg/l, respectively). Receiver operating characteristics curve analyses showed that the optimal cutoff s for sbT to predict the need for daily antimediator therapy, hospitalization, and the management in an ICU were 6.6, 15.5, and 30.8 μg/l, respectively (sensitivity and specificity of 77% and 79%, 100% and 95%, and 100% and 96%, respectively). Increased sbT in association with extensive cutaneous involvement identifies patients at risk for severe MC activation events in pediatric mastocytosis. © 2012 John Wiley & Sons A/S.
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                Author and article information

                Journal
                J Surg Case Rep
                J Surg Case Rep
                jscr
                Journal of Surgical Case Reports
                Oxford University Press
                2042-8812
                November 2018
                23 November 2018
                23 November 2018
                : 2018
                : 11
                : rjy317
                Affiliations
                [1 ]Department of Breast & Endocrine Surgery, Nepean Hospital, Penrith, NSW 2747, Australia
                [2 ]University of Sydney, Sydney, Australia
                Author notes
                Correspondence address. Neshanth Easwaralingam. Tel: +61 404951157; Fax: +61 2 4734 2904; E-mail: neshanth@ 123456bigpond.net.au
                Author information
                http://orcid.org/0000-0002-2616-3751
                Article
                rjy317
                10.1093/jscr/rjy317
                6250909
                30487967
                2aa59e72-81df-4fad-9f74-47e3f53ab8ba
                Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2018.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@ 123456oup.com

                History
                : 29 August 2018
                : 29 October 2018
                : 03 November 2018
                Page count
                Pages: 3
                Categories
                Case Report

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