Mastocytosis and related entities: a practical roadmap

Beyens, Michiel; Elst, Jessy; Poorten, Marie-Line M. van der; Gasse, Athina L. Van; Toscano, Alessandro; Verlinden, Anke; Vermeulen, Katrien; Maes, Marie-Berthe; Elberink, Hanneke Oude; Ebo, Didier G.; Sabato, Vito

doi:10.1080/17843286.2022.2137631

Cited by 6 publications

(7 citation statements)

References 47 publications

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“…None of the dogs in this study had bone marrow biopsies performed, the crucial procedure to differentiate between CM and SM. 36,37 Dog #1 had mast cells identified in an inguinal lymph node, but not in the spleen, liver, or blood. In humans, the involvement of the lymph node is strongly associated with SM but data on nodal involvement in CM are lacking.…”

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 98%

“…None of the dogs in this study had bone marrow biopsies performed, the crucial procedure to differentiate between CM and SM 36,37 . Bone marrow evaluation is highly recommended in children/adolescents with MIS with significant abnormalities in haematology/biochemistry, elevated serum tryptase levels, obvious organomegaly or identification of a p816V exon 17 KIT mutation 36,37 . Most dogs underwent various staging procedures and, based on the absence of documented mastocytaemia or distant mast cell infiltrates, good long‐term control and young age of lesion onset, MIS likely represents CM in the majority of dogs in this case series.…”

Section: Discussionmentioning

confidence: 99%

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Mastocytosis in the skin in dogs: A multicentric case series

Wyatt,

Affolter,

Borio

et al. 2024

Vet Comparative Oncology

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Canine cutaneous mastocytosis (CM) is rare in contrast to canine mast cell tumours. In humans, CM commonly affects children and is usually indolent with possible spontaneous resolution. Systemic mastocytosis (SM) with bone marrow involvement typically affects adults, can have a poor outcome, and often includes skin lesions. ‘Mastocytosis in the skin’ (MIS) is the preferred term of skin lesions, if bone marrow evaluations are not available, which is often the cases in dogs. In human SM and CM, KIT mutations are often detected. The veterinary literature suggests clinical resemblances between human and canine MIS, but data is limited, and KIT mutations are rarely assessed. This retrospective study describes clinicopathological findings, treatment and outcome of 11 dogs with suspected MIS. Dogs with multiple mast cell tumours were excluded. Histopathology reports (n = 5) or slides (n = 6) were reviewed. KIT mutation analysis including exons 8, 9, 11, 14 and 17 were analysed in eight dogs. Median age at diagnosis was 4 years (range, 1–12). Typical clinical signs included multifocal to generalised nodules and papules. Histologically, skin lesions were characterised by dermal infiltration of well‐differentiated mast cells. KIT mutations were detected in 3/8 dogs (exon 9: n = 2; exon 11: n = 1). One dog had mastocytaemia suggesting possible SM. Glucocorticoids were mostly successful with lesion improvement in all treated dogs (n = 8). This cohort highlights resemblances between human and canine MIS. Further studies are required to confirm these findings and establish diagnostic criteria for CM and MIS associated with SM in dogs.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

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Mastocytosis in the skin in dogs: A multicentric case series

Wyatt,

Affolter,

Borio

et al. 2024

Vet Comparative Oncology

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“…The clinical relevance of HαT is still under debate since not everyone with this trait experiences mediator-related symptoms or anaphylaxis [17,18]. However, it seems to be a disease-modifying trait in anaphylaxis and PMCD [19][20][21].…”

Section: Introductionmentioning

confidence: 99%

Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders

Beyens,

Toscano,

Ebo

et al. 2023

Diagnostics

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Tryptase has proven to be a very useful and specific marker to demonstrate mast cell activation and degranulation when an acute (i.e., within 4 h after the event) and baseline value (i.e., at least 24 h after the event) are compared and meet the consensus formula (i.e., an increase of 20% + 2). The upper limit of normal determined by the manufacturer is 11.4 ng/mL; however, this boundary has been the subject of debate. According to ECNM and AIM experts, the normal range of baseline tryptase should be 1 to 15 ng/mL. A genetic trait, hereditary alpha tryptasemia, characterized by an increased alpha coding TPSAB1 copy number is associated with a baseline value above 8 ng/mL. Elevated tryptase can also be found in chronic kidney disease, obesity, and hematological neoplasms. A tryptase > 20 ng/mL serves as a minor criterion to diagnose systemic mastocytosis and an increase in tryptase > 20% + 2 during an acute event is a required criterion in the diagnosis of mast cell activation syndrome. The goal of this review is to demonstrate the (in)significance of tryptase using some clinical vignettes and to provide a practical guide on how to manage and interpret an elevated tryptase level.

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“…The patient's next generation sequencing of her bone marrow showed a novel KIT p.D816_N822delinsMIDSI mutation in exon 17 ( Fig. 1 ) as opposed to the typical KIT D816V mutation [ 18 , 19 ]. The patient's tryptase was initially elevated at 60.1 ng/mL.…”

mentioning

confidence: 99%

Avapritinib treatment of aggressive systemic mastocytosis with a novel KIT exon 17 mutation

Sandow,

Town,

Heinrich

2024

Leukemia Research Reports

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Mastocytosis and related entities: a practical roadmap

Cited by 6 publications

References 47 publications

Mastocytosis in the skin in dogs: A multicentric case series

Mastocytosis in the skin in dogs: A multicentric case series

Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders

Avapritinib treatment of aggressive systemic mastocytosis with a novel KIT exon 17 mutation

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