| Title: | Hereditary α − tryptasemia and peripheral blood KIT D816V mutation in patients with pediatric mastocytosis |
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| Authors: | ID Točkova, Olga (Author)
ID Planinšek Ručigaj, Tanja (Author)
ID Ivančan, Simona (Author)
ID Bidovec, Urška, Univerzitetna klinika za pljučne bolezni in alergijo Golnik (Author)
ID Rijavec, Matija, Univerzitetna klinika za pljučne bolezni in alergijo Golnik (Author)
ID Šelb, Julij, Univerzitetna klinika za pljučne bolezni in alergijo Golnik (Author)
ID Korošec, Peter, Univerzitetna klinika za pljučne bolezni in alergijo Golnik (Corresponding author) |
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| Files: |  URL - Source URL, visit https://www.mdpi.com/1422-0067/26/13/6023
 PDF - Presentation file, download (856,57 KB)
MD5: A6E65703A906DCCE6A17B681AB4E1E41
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKPBAG - University Clinic of Respiratory and Allergic Diseases Golnik
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| Abstract: | Hereditary α-tryptasemia (HαT)—a genetic trait caused by increased α-tryptase-encoding typtase alpha/beta-1 (TPSAB1) copy number—is associated with adult mastocytosis. The primary objective was to assess the association between α-tryptase and pediatric mastocytosis. We also want to evaluate whether the KIT p.D816V mutation in peripheral blood leukocytes (PBLs) reliably predicts systemic mastocytosis (SM) in children. A prospective cohort of 68 children from a referral center in Slovenia with cutaneous mastocytosis (CM) underwent tryptase genotyping by droplet digital PCR and examination for KIT p.D816V in PBL using a sensitive PCR test. A significant majority of patients (57 of 68; [83.8%]) had at least one α-tryptase-encoding gene; none had HαT. 7 of the 68 (10.3%) who were positive for KIT p.D816V in PBL, one fulfilled diagnostic criteria for indolent SM, and another was diagnosed with monoclonal mast cell activation syndrome. One of those individuals had an increased basal serum tryptase (BST) level (14.5 ng/mL). We found a high presence of germline α-tryptase in children with CM, but not HαT. By employing sensitive examination for KIT p.D816V in PBL, in combination with clinical data and other examinations, our study suggests that KIT p.D816V in PBL may indicate systemic disease in children with CM. |
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| Keywords: | KIT D816V, hereditary α-tryptasemia, peripheral blood |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Submitted for review: | 12.04.2025 |
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| Article acceptance date: | 19.06.2025 |
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| Publication date: | 23.06.2025 |
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| Publisher: | MDPI, 2000- |
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| Year of publishing: | 2025 |
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| Number of pages: | 16 str. |
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| Numbering: | Vol. 26, issue 13, [article no.] 6023 |
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| Source: | International journal of molecular sciences |
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| PID: | 20.500.12556/DiRROS-23191  |
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| UDC: | 616.155.3-005.4:575.2(497.4) |
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| ISSN on article: | 1422-0067 |
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| DOI: | 10.3390/ijms26136023 |
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| COBISS.SI-ID: | 243302147 |
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| Copyright: | © 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 22. 7. 2025;
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| Publication date in DiRROS: | 05.08.2025 |
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| Views: | 401 |
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| Downloads: | 258 |
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