Mastocytosis in Adults: A Retrospective Analysis of the Clinical Course and Treatment of 58 Patients
В. Г. ПотапенкоВ В БайковИ. Э. БелоусоваElena BelyakovaM.V. BarabanshchikovaD. V. ZaslavskyI.S. Zyuzgin ZyuzginА. А. КлимовичYu. А. KrivolapovТ Г КулибабаЕ. В. ЛисуковаЕ Е ЛеенманL. A. MazurokАнна Михайловна МаксимоваЕlena V. MorozovaA.S. NizamutdinovaK.A. SkoryukovaE.A. UkrainchenkoН. В. Медведева
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Background. Mastocytosis is a disease caused by proliferation and accumulation of clonal mast cells in one or more organs. It is often associated with other hematological tumors. Aggressive forms of mastocytosis (AFM) require specific therapy. In non-aggressive forms of mastocytosis (NFM) symptomatic treatment is needed. Aim. To analyze the clinical course and treatment outcomes in different forms of adult mastocytosis. Materials & Methods. The retrospective analysis was based on the records of patients who received in-person and distance consultation within the period from 11/2008 to 11/2020. The analysis of complaints in disease onset and over time was carried out using questionnaires. NFM patients received symptomatic treatment with antihistamines. To all AFM patients chemotherapy was administered. Results. The analysis includes the data of 58 patients: 39 (67.2 %) women and 18 (32.8 %) men. The median age was 40 years (range 18-79 years), the median age on diagnosis was 39 years (range 1-79 years). In all patients skin rashes were reported. The median age of the first skin manifestations was 25 years (range 0.1-70 years). In-person monitoring was conducted in 34 (58.6 %) patients, 24 (41.4 %) patients received distance consultations. Median follow-up was 56.5 months (range 3-564 months). In 8 (13.7 %) patients mastocytosis was diagnosed in childhood with the median of 9 years (range 0-15 years). The diagnosis was morphologically confirmed in 46 (79.3 %) patients. Main complaints included pruritus (67.2 %), edema and erythema response to various irritants (62 %). In 45 (77.5 %) patients NFMs were reported. The regular symptomatic treatment of 78.8 % of NFM patients consisted only of antihistamines (57.9 %), and 2 (4.4 %) patients noted poor disease symptom control. One (2.2 %) patient died of associated chronic myelomonocytic leukemia. None of NFM patients required cytoreductive treatment. AFMs were diagnosed in 13 (22.4 %) patients, 5 (38.4 %) out of them had mast cell leukemia. The indications for starting chemotherapy were cytopenia (n = 3; 23 %), extensive osteolysis (n = 7; 53.8 %), ascitic syndrome with portal hypertension (n = 6; 46.1 %). Overall survival of AFM patients was 84.6 % (n = 11) with median follow-up of 80 months (range 12-131 months). Conclusion. NFM prognosis is favorable. Antihistamines are effective in relieving complaints of most patients. Cytostatic treatment of AFM in some patients provides long-lasting antitumor response.Keywords:
Cutaneous Mastocytosis
Erythema
Abstract Мastocytosis is a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells (MCs) in the skin and/or other organ systems. Mastocytosis is a rare disease. The annual incidence is 5-10 cases per 1 million people. However, the majority of cases stay undiagnosed due to the lack of specific tests and a wide variety of clinical features of the disease. In mastocytosis, somatic mutations of KIT gene lead to autocrine dysregulation and constitutive c-KIT activation in the absence of its ligand SCF. Clinical symptoms of the disease are determined by MC mediator release and/or infiltration of tissues by MCs. According to the World Health Organisation classification updated in 2016 mastocytosis is divided to cutaneous mastocytosis (CM), indolent systemic mastocytosis (ISM), smoldering systemic mastocytosis (SSM), SM with an associated hematologic (non-MC-lineage) neoplasm (SMAHN), aggressive SM (ASM), MC leukemia (MCL) and MC sarcoma (MCS). The CM and ISM prognosis is excellent with (almost) normal life expectancy, unlike aggressive forms (ASM and MCL) with poor prognosis. In this paper the key aspects of clinical features and diagnostic criteria of mastocytosis are discussed. We present a case report of a patient with mastocytosis in the skin following psoralen plus ultraviolet A (PUVA) therapy with good response.
Cutaneous Mastocytosis
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First described by Nettleship et al. in 1869 [1], mastocytoses are a heterogeneous group of disorders characterized by the pathologic accumulation of mast cells in various tissues [2-5]. Mastocytosis can be confined to the skin as in cutaneous mastocytosis (CM), or it can involve extracutaneous tissues such as the liver, spleen, bone marrow and lymph nodes, as in systemic mastocytosis [6]. Mastocytosis is a World Health Organization-defined clonal mast cell disorder characterized by significant clinicopathologic heterogeneity [7]. Keywords: Cutaneous mastocytosis; Systemic mastocytosis; Systemic involvement; Mast cells; Mastocytosis.
Cutaneous Mastocytosis
Urticaria pigmentosa
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Mastocytosis is characterized by an increased number of mast cells with an abnormal growth and accumulation in one or more organs. In most children mastocytosis is limited to the skin (cutaneous mastocytosis) and often transient as compared with that in adults in whom mastocytosis is usually progressive and systemic. Generally, we recognize three more common forms of cutaneous mastocytosis: maculopapulous mastocytosis (formerly urticaria pigmentosa), mastocytoma of skin, and diffuse cutaneous mastocytosis. Childhood mastocytosis can further be divided into cutaneous mastocytosis (nonpersisting and persisting) and systemic mastocytosis (extremely rare). An approach to management using a set protocol is described in table form. In most cases of mastocytosis, only yearly checkups are necessary and no treatment is required; preventive recommendations are warranted in those individuals with systemic disease and constitutional symptoms. Symptomatic therapy is advised in only a minority of cases. This article is meant as a guideline for physicians involved in the care of children with mastocytosis and their parents.
Cutaneous Mastocytosis
Urticaria pigmentosa
Mastocytoma
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Background. Mastocytosis is a disease characterized by the presence of mast cells in various organs. The skin is affected most often. Almost every patient diagnosed with mastocytosis has skin lesions. This disease is characterized by redness, itching, abdominal pain, diarrhea, musculoskeletal pain, hypotension. These features result from the release of the mast cell mediator and its infiltration into the target organs. Materials and methods. This article describes the symptoms and signs of each and systemic mastocytosis, the principles of their diagnosis, based on recently published іnternational recommendations. Results. According to the 2016 World Health Organization classification, mastocytosis can be divided into cutaneous mastocytosis, systemic mastocytosis and mast cell sarcoma. Cutaneous mastocytosis is divided into three subtypes: maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis and cutaneous mastocytoma. Permanent telangiectasia of the macular eruptive form is no longer considered a separate unit. Systemic mastocytosis, in turn, is also divided into indolent, smoldering, aggressive and associated with hematological tumors. Conclusions. Cutaneous manifestations of mastocytosis may vary with age. The classification of cutaneous mastocytosis has recently been updated. As a rule, in patients with mastocytosis in childhood the disease occurs as cutaneous mastocytosis and spontaneously regresses during puberty. On the contrary, in adult patients, despite skin lesions, systemic lesions are often observed, and the course of the disease is usually chronic. That is, patients of any age can be affected. The article describes the causes and pathogenesis of mastocytosis with an overview of clinical features, approach to diagnosis and therapy depending on age and severity of the disease. Clinical cases for visual acquaintance with a clinical picture of various forms of mastocytosis are resulted.
Cutaneous Mastocytosis
Mastocytoma
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Abstract Background Mastocytosis is characterized by the accumulation/proliferation of abnormal mast cells. The frequency of isolated cutaneous involvement in adults with mastocytosis has not been fully determined. The main objective of our study was to assess the frequency of isolated cutaneous mastocytosis (CM) in adults with mastocytosis skin lesions. The second objective was to compare the clinical, histological, biological and imaging features in patients with isolated CM and patients with systemic mastocytosis ( SM ). Methods We included all patients with histology‐proven mastocytosis skin lesions between January 2009 and December 2017. The mastocytosis diagnosis was made according to the international diagnostic criteria. All data were collected from a dedicated specific case report. Results Among 160 patients with mastocytosis skin lesions, 25 patients had isolated CM (15.6%), 105 had SM and 30 (18.7%) patients had undetermined mastocytosis. Skin KIT mutation ( OR : 51.9, 95% CI: 3.9–678, P = 0.001) and high bone marrow tryptase ( OR : 97.4, 95% CI: 10.3–915, P = 0.001) were strong predictors of SM . The prevalence of osteoporosis was higher in the SM population than in the isolated CM population. Moreover, a decrease in bone mineral density over a short period of follow‐up (1–2 years) was associated with SM . There were no differences between the two groups regarding the frequency of mast cell activation symptoms, the presentation of skin lesions, the number of mast cells in the dermis and the level of serum tryptase. We propose considering the KIT mutation status and bone marrow tryptase levels to aid the diagnosis of isolated CM in adult mastocytosis patients. Conclusion Only a small minority of adults with mastocytosis skin lesions has isolated cutaneous involvement. In 18.7% of mastocytosis cases, even complete workup does not allow for a precise classification of patients.
Cutaneous Mastocytosis
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Cutaneous Mastocytosis
Urticaria pigmentosa
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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.
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Mastocytosis is a rare disease of bone marrow-derived hematopoietic progenitor cells, which is characterized by abnormal growth and excessive accumulation of mast cells in various tissues. Cutaneous Mastocytosis is a skin limited disease, whereas Systemic Mastocytosis usually involves bone marrow, spleen, liver, lymph nodes and gastrointestinal tract and may present with or without skin involvement. The skin is one of the most commonly affected organ both in children and adults. Mastocytosis in the skin (MIS) is defined by a typical exanthema and monomorphic mast cell infiltrate. MIS is an initial diagnosis which requires further diagnostic steps leading to the final diagnosis of Cutaneous Mastocytosis or Systemic Mastocytosis. The study group included 140 adult patients and 160 children presenting MIS. All patients were clinically diagnosed with Systemic Mastocytosis strictly according WHO criteria. Cutaneous Mastocytosis was divided into maculopapular type, diffuse type and mastocytoma. Cutaneous Mastocytosis was the predominat form of the disease in children. By contrast, in most adult patients Systemic Mastocytosis was recognized. A substantial number of mastocytosis patients suffered from mediator-related symptoms including pruritus, flushing, hypotension, headache, nausea, abdominal pain, diarrhea and anaphylactic shock among others. The present study is focused on the presentation of the clinical diversity of Mastocytosis in the skin, demonstrating diagnostic algorithms and comparison of disease features in children and adults diagnosed in the Mastocytosis Centre, Medical University of Gdañsk. Due to a rare incidence of Systemic Mastocytosis in children, the diagnostic approach in children and adults presenting MIS should differ.
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Cutaneous Mastocytosis
Urticaria pigmentosa
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Cutaneous Mastocytosis
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