Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review

Li, Yanfang; Li, Xiaoying; Liu, Xianghong; Kang, Lili

doi:10.1177/0300060520952621

Cited by 5 publications

(15 citation statements)

References 19 publications

(30 reference statements)

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“… 18 , 20 The various c-KIT gene status, wild type, mutations in exon 17, and other mutations found in children do not correlate with clinical phenotypes, MPCM, DCM, and mastocytoma and do not predict the outcome of the disease. 18 , 21 – 23 The presence of c-KIT mutations of the MCs in the skin confirms the diagnosis of CM, but this is not a diagnostic criterion for SM nor a predictor of the evolution of the disease. 2 , 24 , 25 On the other hand, the presence of KIT 816V mutation in the peripheral blood (PB) of children with CM should suggest performing a bone marrow biopsy, which is useful for identifying children at risk of developing SM.…”

Section: Pathophysiologymentioning

confidence: 99%

Pediatric Mastocytosis: An Update

Giona

2021

Mediterr J Hematol Infect Dis

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Mastocytosis is a rare clonal disorder, characterized by excessive proliferation and accumulation of mast cells (MC) in various organs and tissues. Cutaneous mastocytosis (CM), the most common form in children, is defined when MC infiltration is limited to the skin. Systemic mastocytosis (SM), the most common form in adults, is characterized by MC proliferation and accumulation in organs, such as bone marrow, lymph nodes, liver and spleen (1). Genetic aberrations, mainly the KIT D816V mutation, play a crucial role in the pathogenesis of mastocytosis, resulting in enhancing MC survival and subsequent accumulation in organs and tissues (2,3). CM includes 3 forms: solitary mastocytoma, maculopapular cutaneous mastocytosis (MPCM) and diffuse cutaneous mastocytosis (DCM). In the majority of children with CM, skin lesions regress spontaneously around puberty; unfortunately, in a few cases, it is not a self-limiting disease (4). Even if SM occurs occasionally, all children with mastocytosis require planned follow-up over time. Children with mastocytosis often suffer from MC mediator-related symptoms, the most common of which is itching, often triggered by rubbing the lesions. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers. Treatment with H1 and H2 histamine receptor blockers on demand, and the availability of epinephrine auto-injectors for the patients to use in case of severe anaphylactic reactions are recommended.

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Section: Pathophysiologymentioning

confidence: 99%

Pediatric Mastocytosis: An Update

Giona

2021

Mediterr J Hematol Infect Dis

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“…With few exceptions, mastocytosis is not a hereditary disease. Heritability associated with germline mutations of KIT is extremely rare in mastocytosis, and these germline KIT mutations occur in different gene regions such as N822I, F522C, K509I, S451C, R634W, Del 419, A533D, S476I, among others [ 17 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 ]. Of note, rare cases of mastocytosis with germline KIT mutations associated with tuberous sclerosis and gastrointestinal stromal tumors were reported [ 35 , 36 , 39 ].…”

Section: Pathogenesismentioning

confidence: 99%

“…The mechanisms underlying the correlation between KIT mutation and clinical phenotypes of pediatric mastocytosis are poorly understood [ 16 , 19 , 25 , 26 , 38 , 40 ]. In some sporadic cases with DCM, various somatic KIT mutations (D816V, D816Y, D816I, Del419, K509I, internal tandem duplication A502_Y503dup) were reported [ 19 , 26 , 40 , 41 , 42 , 43 ]. Moreover, in familial DCM, germline mutations such as S451C and A533D were detected [ 31 , 37 ].…”

Section: Pathogenesismentioning

confidence: 99%

Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021

Lange

Hartmann

Carter

et al. 2021

IJMS

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Pediatric mastocytosis is a heterogeneous disease characterized by accumulation of mast cells in the skin and less frequently in other organs. Somatic or germline mutations in the KIT proto-oncogene are detected in most patients. Cutaneous mastocytosis is the most common form of the disease in children. In the majority of cases, skin lesions regress spontaneously around puberty. However, in few patients, mastocytosis is not a self-limiting disease, but persists into adulthood and can show signs of systemic involvement, especially when skin lesions are small-sized and monomorphic. Children with mastocytosis often suffer from mast cell mediator-related symptoms. Severe hypersensitivity reactions can also occur, mostly in patients with extensive skin lesions and blistering. In a substantial number of these cases, the triggering factor of anaphylaxis remains unidentified. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers, treatment with H1 and H2 histamine receptor blockers, and equipment of patients and their families with epinephrine auto-injectors for use in severe anaphylactic reactions. Advanced systemic mastocytosis occurs occasionally. All children with mastocytosis require follow-up examinations. A bone marrow investigation is performed when advanced systemic mastocytosis is suspected and has an impact on therapy or when cutaneous disease persists into adulthood.

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“…При мастоцитозе «врожденность», ассоциированная с герминальными мутациями в гене KIT, встречается крайне редко, и эти зародышевые мутации имеют отношение к разным регионам гена KIT, таким как N822I, F522C, K509I, S451C, R634W, Del 419, A533D, S476I [30][31][32].…”

Section: патофизиология генетические основы и молекулярные маркеры пр...unclassified

“…В семьях, в которых мастоцитоз наследуется по аутосомно-доминантному пути, пациенты, как правило, имеют повышенный уровень триптазы, внекожное вовлечение и хроническое течение заболевания [31]. Было продемонстрировано, что присутствие мутаций KIT в кожных биоптатах не является предиктором дальнейшей эволюции заболевания [19], не коррелирует с клиническим фенотипом и не является прогностическим фактором [6,19,32].…”

Section: патофизиология генетические основы и молекулярные маркеры пр...unclassified

A case report of mast cell leukemia in a child and literature review

Boychenko

2023

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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Mast cell leukemia (MCL) is a very rare form of aggressive systemic mastocytosis accounting for < 1% of all mastocytosis. Mastocytosis is a broad term used for a group of clonal disorders characterized by accumulation of mast cells in the skin with or without extracutaneous involvement. The clinical spectrum of the disease varies from only cutaneous lesions to highly aggressive systemic involvement such as MCL. Mastocytosis can present from birth to adulthood. In children, mastocytosis is usually benign, and there is a good chance of spontaneous regression at puberty, unlike adult-onset disease, which is generally systemic and more severe. Individuals with systemic mastocytosis may be at risk of developing hematologic malignancies. MCL diagnosis requires the presence of SM criteria with additional features including leukemic infiltration of bone marrow and/or blood by at least 20% high-grade MC as well as the infiltration of extracutaneous organs by neoplastic MC. Genetic aberrations, mainly the KIT D816V mutation, play a crucial role in the pathogenesis of mastocytosis and are detected in most patients. To date, there is no approved standard therapy. For MCL, few options are available for treatment and because of the rarity of the disease very few clinical trials address the question. Even if SM occurs occasionally, all children with mastocytosis require planned follow-up over time. We present an overview of literature on MCL and a rare case of MCL diagnosed in a 4-year-old girl who had had cutaneous mastocytosis since early childhood. A bone marrow examination revealed MCL. She ultimately died despite chemotherapy. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.

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Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review

Cited by 5 publications

References 19 publications

Pediatric Mastocytosis: An Update

Pediatric Mastocytosis: An Update

Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021

A case report of mast cell leukemia in a child and literature review

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