Relevant updates in systemic mastocytosis

Coltoff, Alexander; Mascarenhas, John

doi:10.1016/j.leukres.2019.04.001

Cited by 8 publications

(12 citation statements)

References 101 publications

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“…This variant has not been reported in individuals with KIT-related diseases. The KIT gene is associated with autosomal dominant piebaldism [14], gastrointestinal stromal tumors (GISTs) [15], and familial mastocytosis [16]. The clinical significance of this result is uncertain.…”

Section: Discussionmentioning

confidence: 99%

CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report

Szeliga

Pralat

Witczak

et al. 2020

IJERPH

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Background: Many studies show the occurrence of several multiple endocrine neoplasia syndromes caused by different mutations, for example, in MEN1 and RET genes. Nevertheless, there are less common mutations causing multiple endocrine glands tumors. Examples of such mutations are CHEK2 gene mutations, causing breast, kidney, gastric, colorectal, prostate, lung, ovarian, and thyroid cancers. Case description: In 2005, a 30-year-old woman was admitted to the hospital due to uncontrolled hypertension and obesity. Performed tests have shown ACTH (adrenocorticotropic hormone)—independent micronodular adrenal hyperplasia (AIMAH) as a cause. In 2010, the further diagnostic analysis revealed Cushing’s disease caused by ACTH-secreting pituitary microadenoma. Additionally, in 2011, the patient underwent the strumectomy of multinodular struma. Papillary thyroid carcinoma was found in the excised tissue. In 2018, transvaginal ultrasonography revealed a tumor of the right ovary. After a performed hysterectomy with bilateral salpingo-oophorectomy, the histopathology result has shown female adnexal tumors of probable Wolffian origin (FATWO) located in the broad ligament of the uterus. Due to the history of multiglandular diseases, the patient was referred to genetic testing. We found a positive pathogenic mutation in CHEK2-suppressor gene involved in DNA repair, cell cycle arrest, and apoptosis in response to DNA damage. Conclusion: CHEK2 variants may predispose to a range of endocrine glands tumors, including those identified in our patient. Multiple endocrine glands tumors, as in the presented patient, are a serious problem of public health, due to numerous hospitalizations and necessary repeated surgical treatments. Moreover, the association between CHEK2 and ovarian cancer can be a serious problem with reproductive health.

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Section: Discussionmentioning

confidence: 99%

CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report

Szeliga

Pralat

Witczak

et al. 2020

IJERPH

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“…Therapy for SM-AHNMD is focused on treating the associated hematologic disorder, aiming simultaneously to control the symptoms of mastocytosis [3,13]. Hydroxyurea is the first-choice drug for ET patients at high risk of thrombosis [14], i.e., those with a previous thrombotic event and/or over 60 years of age, and it may also be used in patients with SM-AHNMD.…”

Section: Discussionmentioning

confidence: 99%

“…Systemic mastocytosis (SM) is a rare hematopoietic disorder, which has been included by the World Health Organization (WHO) within the category of myeloproliferative neoplasms (MPN) [1]. The abnormal expansion of clonal mast cells (MC) observed in this disease results in a heterogeneous clinical picture, ranging from indolent SM, where patients have a normal or almost normal life-expectancy, to aggressive MC neoplasms with poor prognosis and short survival time due to multi-organ involvement [2,3].…”

Section: Introductionmentioning

confidence: 99%

Systemic Mastocytosis and Essential Thrombocythemia: Case Report and Literature Overview

et al. 2019

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Mastocytosis is a rare disease in which heightened amounts of mast cells accumulate in the skin, bone marrow, and other visceral organs. Upon activation, mast cells release a wide variety of preformed or newly synthesized mediators which can induce allergic symptoms and inflammatory reactions. Mastocytosis is diagnosed by biopsy and can be divided into cutaneous and systemic mastocytosis (SM). The first one affects the skin and is relatively benign, whilst SM, which involves bone marrow and other organs, may be aggressive and associate with both myelodisplastic and myeloproliferative diseases. Here we present a case of SM associated with essential thrombocythemia and complicated by severe osteoporosis, successfully treated with hydroxyurea, low-dose aspirin and zolendronic acid.

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“…Table 3 Among the different forms of SM, indolent systemic mastocytosis (ISM) is, luckily, the most common. It is characterized by a stable or slowly progressing clinical course, often with a good prognosis [38].…”

mentioning

confidence: 99%

“…Systemic mastocytosis with an associated hematological neoplasm (SM-AHN) is, as its name suggests, a form of SM possibly accompanying all forms of hematological neoplasms. It accounts for up to 40% of all SM cases (second most frequent subvariant following ISM) [38].…”

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confidence: 99%

Mast Cell Activation Disorders

et al. 2021

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Background and Objectives: Mast cell disorders comprise a wide spectrum of syndromes caused by mast cells’ degranulation with acute or chronic clinical manifestations. Materials and Methods: In this review article we reviewed the latest findings in scientific papers about mast cell disorders with a particular focus on mast cell activation syndrome and mastocytosis in pediatric age. Results: Patients with mast cell activation syndrome have a normal number of mast cells that are hyperreactive upon stimulation of various triggers. We tried to emphasize the diagnostic criteria, differential diagnosis, and therapeutic strategies. Another primary mast cell disorder is mastocytosis, a condition with a long-known disease, in which patients have an increased number of mast cells that accumulate in different regions of the body with different clinical evolution in pediatric age. Conclusions: Mast cell activation syndrome overlaps with different clinical entities. No consensus was found on biomarkers and no clearly resolutive treatment is available. Therefore, a more detailed knowledge of this syndrome is of fundamental importance for a correct diagnosis and effective therapy.

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Relevant updates in systemic mastocytosis

Cited by 8 publications

References 101 publications

CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report

CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report

Systemic Mastocytosis and Essential Thrombocythemia: Case Report and Literature Overview

Mast Cell Activation Disorders

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