Bone pain, thyroid nodule and lymphadenectasis: a report of one case with literature review / 中华风湿病学杂志

Objective:By analyzing the clinical and pathologic manifestations of systemic mastocytosis (SM) to improve the recognition of the disease.Methods:Clinical manifestations, diagnosis and treatment of a middle-aged male patient with SM was reported with multidisciplinary discussions.Results:A middle-aged man with bone pain, thyroid nodules and lymphadenectasis came to our clinic. Thyroid cancer with lymph node and bone metastasis was suspected by imaging examination. The pathological results showed cell proliferation with transparent cytoplasm and irregular nuclear in the trabecular bone. Toluidine blue staining showed the proliferated cells were mast cells(+). Immunohistochemistry showed proliferating mast cells stained with CD117 and CD2. SM with extensive bone marrow involvement was diagnosed and treated with thalidomide and calcitriol.Conclusion:Knowing the characteristics of SM is helpful for accurate diagnosis and treatment.

[Cutaneous Manifestations in Mastocytosis: Update]. / Manifestações Cutâneas nas Mastocitoses: Atualização.

INTRODUCTION: Mastocytosis is characterized by the clonal expansion of morphological and immunophenotypically abnormal mast cells in different organs. The skin is the most frequently affected tissue. Virtually all children and more than 80% of adult patients with mastocytosis show cutaneous lesions. MATERIAL AND METHODS: The present article describes the symptoms and signs in cutaneous mastocytosis, based on the review of recently published international consensus guidelines. DISCUSSION: According to the 2016 World Health Organization classification, mastocytosis can be divided in cutaneous mastocytosis, systemic mastocytosis and mast cell sarcoma. Cutaneous mastocytosis is subclassified in three subtypes: maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis and cutaneous astocytoma. Telangiectasia macularis eruptiva perstans is no longer considered a distinct entity. CONCLUSION: Based on the age of onset, cutaneous manifestations of mastocytosis can be variable. The classification of cutaneous mastocytosis has recently been updated. Typically, in patients with childhood-onset mastocytosis, the disease occurs as cutaneous mastocytosis and shows spontaneous resolution around puberty. In contrast, adult patients, despite having also cutaneous lesions, often show systemic involvement and the course of the disease is usually chronic.

Introdução: As mastocitoses caraterizam-se pela expansão clonal de mastócitos, com acumulação de mastócitos morfológica e imunofenotipicamente anormais em diferentes órgãos. A pele é o órgão mais frequentemente envolvido. Virtualmente, todas as crianças e mais de 80% dos adultos com mastocitose apresentam lesões cutâneas.Material e Métodos: O presente artigo descreve os sinais e sintomas associados à mastocitose na pele, tendo por base a revisão das normas de orientação de consenso internacionais, recentemente publicadas.Discussão: De acordo com a classificação proposta pela Organização Mundial de Saúde em 2016, a mastocitose divide-se em mastocitose cutânea, mastocitose sistémica e sarcoma de mastócitos. A mastocitose cutânea pode subdividir-se em três subtipos: a mastocitose cutânea maculopapular (também denominada urticária pigmentosa), mastocitose cutânea difusa e mastocitoma cutâneo. A telangiectasia macular eruptiva perstans já não é considerada uma entidade independente.Conclusão: As manifestações cutâneas da mastocitose são variáveis, dependendo da idade de início da doença. Recentemente a classificação da mastocitose cutânea foi atualizada. Nas crianças, a mastocitose ocorre como mastocitose cutânea que tende à regressão espontânea durante a adolescência. Quando tem início na idade adulta, a mastocitose é geralmente sistémica, sendo a forma mais frequente a mastocitose sistémica indolente, que normalmente também cursa com manifestações cutâneas e tem um curso crónico.

Adult mastocytosis: a review of the Santo António Hospital 's experience and an evaluation of World Health Organization criteria for the diagnosis of systemic disease

BACKGROUND: Mastocytosis is a clonal disorder characterized by the accumulation of abnormal mast cells in the skin and/or in extracutaneous organs. OBJECTIVES: To present all cases of mastocytosis seen in the Porto Hospital Center and evaluate the performance of World Health Organization diagnostic criteria for systemic disease. METHODS: The cases of twenty-four adult patients with mastocytosis were reviewed. Their clinical and laboratorial characteristics were assessed, and the properties of the criteria used to diagnose systemic mastocytosis were evaluated. RESULTS: The age of disease onset ranged from 2 to 75 years. Twenty-three patients had cutaneous involvement and 75% were referred by dermatologists. Urticaria pigmentosa was the most common manifestation of the disease. One patient with severe systemic mast cell mediator-related symptoms showed the activating V560G KIT mutation. The bone marrow was examined in 79% of patients, and mast cell immunophenotyping was performed in 67% of the participants. Systemic disease was detected in 84% of cases, and 81% of the sample had elevated serum tryptase levels. All the diagnostic criteria for systemic mastocytosis had high specificity and positive predictive value. Bone marrow biopsy had the lowest sensitivity, negative predictive value and efficiency, while the highest such values were observed for mast cell immunophenotyping. Patients were treated with regimens including antihistamines, sodium cromoglycate, alpha-interferon, hydroxyurea and phototherapy. CONCLUSIONS: Cutaneous involvement is often seen in adult mastocytosis patients, with most individuals presenting with indolent systemic disease. Although serum tryptase levels are a good indicator of mast cell burden, bone marrow biopsy should also be performed in patients with normal serum tryptase, with flow cytometry being the most adequate method to diagnose systemic disease. .

Aggressive systemic mastocytosis:one case report and literatures review / 白血病·淋巴瘤

Objective To improve the acknowledge of diagnosis and therapy of aggressive systemic mastocytosis (ASM).Methods One ASM patient was reported and the literatures were reviewed.Results As a rare subtype of SM,ASM is characterized by multiple organs involvement,and often accompanied by bone marrow dysfunction,osteolytic lesions and palpable hepatomegaly or splenomegaly which usually indicate the high mast cell burden.Conclusion ASM meets criteria for SM and has one or more C findings.Variable factors affect the prognosis of ASM patients and the formulation of the clinical treatment strategy which leads to the highly individualized therapies.

Systemic mastocytosis:a report of 3 cases and literature review / 中华全科医师杂志

Objective To review the clinical features,diagnostic work-up,classification,prognosis and treatment of systemic mastocytosis (SM).Methods The clinical data of 3 SM patients admitted to Peking Union Medical College Hospital (PUMCH) were retrospectively analyzed and the review of recent literatures was performed.Results All the 3 cases were pathologically diagnosed.According to WHO 2008 classification criteria,2 cases were diagnosed as aggressive SM (ASM) and the other one was diagnosed as indolent SM (ISM).Case 1 was a 60-year-old female patient who had overt mediator release syndrome manifesting as episodes of flushing,fever,vomiting,palpitation,hypotension and syncope.She was diagnosed as aggressive SM based on significantly increased number of abnormal mast cells (accounting for 6％ of all nucleated cells) in the bone marrow aspiration sample and biopsy specimen which accompanied with decreased other myeloid and erythroid elements.Her disease was refractory to the treatment of H2 antihistamines and led to a fatal outcome eventually.Case 2 was a 72-year-old male patient who underwent extended proximal gastrectomy with esophagogastric anastomosis due to endoscopically detected diffuse thickening of the gastric fundic mucosa.The diagnosis as indolent SM was established according to the dense infiltrate of abnormal mast cells in the surgically resected part of stomach and regional lymph nodes.He had been in complete remission for more than 6 years ever since then.Case 3 was a 41-year-old female patient who presented with fever,urticaria pigmentosa and diffuse bone lesions.A bone biopsy specimen demonstrated a dense infiltrate of mast cells while the assays for KIT-D816V mutation and FIP1L1-PDGFRα fusion gene yielded negative results.She was diagnosed as aggressive SM and a progression-free survival of more than 1 year had been achieved with the treatment of prednisone,interferon-α and pamidronate.Conclusions SM is a rare disease.Diagnosis is primarily dependent on histopathology.There is currently no curative therapy for systemic mastocytosis.Treatment is intended to reduce symptoms and improve quality of life.The prognosis of ISM is much better than that of ASM.

One case of systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease and literatures revivew / 白血病·淋巴瘤

Objective To improve the understanding of systemic mastocytosis(SM) with associated clonal haematological non-mast-cell lineage disease (SM-AHNMD). Methods The clinical and laboratory features, treatment and prognosis of a rare case of SM-AHNMD was reported and the related literatures were reviewed. Results As the second most common subtype of SM, SM-AHNMD mainly has multifocal dense infiltrates of mast cells detected in sections of bone marrow and/or other extracutaneous organs, and some special cytology or biochemical markers(toluidine blue staining,tryptase,CD117,CD25 and/or CD2) results are positive. C-kit mutations are found in most adult patients. SM-AHNMD also has clinical characters of other clonal haematological non-mast-cell lineage disease (HNMD), such as myelodysplastic syndrome,myeloproliferative neoplasms, acute myeloid leukemia. Conclusion SM-AHNMD meets criteria for SM and other HNMD. Treatment for SM-AHNMD is mainly about the therapy of HNMD, and the prognosis greatly depends on the accompanying hematological disorder.There is no special treatment for SM,and the treatment should be directed at symptomatic control.

Mastocitose sistêmica: relato de caso / Systemic mastocytosis: case report

A mastocitose sistêmica é um raro transtorno clonal dos mastócitos e de seus precursores. Embora de baixa incidência, a mastocitose sistêmica tem importância epidemiológica, pela morbimortalidade e pelo subdiagnóstico observados no nosso meio. Os sintomas da mastocitose sistêmica são advindos do acúmulo patogênico e da ativação dos mastócitos. Estudos recentes revelaram diferenças significativas entre a biologia celular e molecular dos mastócitos de indivíduos com mastocitose e de indivíduos normais. Esses achados podem ser usados tanto na formulação do critério diagnóstico quanto na elaboração de novas estratégias terapêuticas. É relatado caso de paciente do sexo masculino, 58 anos, com história de febre de origem indeterminada, astenia, adinamia, ascite e plaquetopenia internado no Hospital das Clínicas da UFMG com diagnóstico laboratorial de mastocitose sistêmica.

Systemic mastocytosis is a rare disturb of the mast cells and its progenitors. Even so the low incidence, the disease is epidemiologically important because of the high mortality and the misdiagnosed cases. The symptoms are due to systemic infiltration and activation of pathologic mast cells. Recent studies have documented the difference between the molecular and cellular biology of mast cells in patients with mastocytosis and those of healthy individuals. These findings are being used in formulating diagnostic criteria as well as dictating new treatment approaches to the disease. Is reported a clinic case of a male, 58 years old, with the history of fever of undetermined origin and malaise, ascitis and low platelets. The diagnosis criteria for systemic mastocytosis were established.

Mastocitose / Mastocytosis

A mastocitose é caracterizada pelo acúmulo patológico e ativação de mastócitos nos tecidos e órgãos. Embora a classificação da mastocitose e seus critérios diagnósticos sejam bem aceitos, há necessidade de estabelecer parâmetros para aplicação de testes diagnósticos, avaliação clínica e respostas aos tratamentos. O objetivo deste trabalho é fazer uma revisão extensa da literatura, oferecendo conhecimento global sobre os mecanismos etiopatológicos e isiopatológicos, dando especial ênfase à diagnose, classificação e tratamento da mastocitose, promovendo a educação médica continuada.

Mastocytosis is characterized by pathologic accumulation and activation of mast cells in tissues and organs. Although the classification for mastocytosis and diagnostic criteria are well accepted, there remains a need to define standards for the application of diagnostic tests, clinical evaluations, and responses to treatment. The objective of this article was to make an extensive literature review, providing comprehensive knowledge about the etiopathological and pathophysiological mechanisms, with a special emphasis on diagnosis, classification and treatment of mastocytosis, promoting continued medical education.