Pridobljena mutacija p.d816v v genu kit in genotipizacija triptaznega lokusa pri otrocih s kožno mastocitozo

Točkova, Olga

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Title:	Pridobljena mutacija p.d816v v genu kit in genotipizacija triptaznega lokusa pri otrocih s kožno mastocitozo
Authors:	ID Točkova, Olga (Author) ID Korošec, Peter (Mentor) More about this mentor... ID Berce, Vojko (Comentor)
Files:	DOK_Tockova_Olga_2026.pdf (2,23 MB) MD5: A54832D94752976CAA791F7011791F85
Language:	Slovenian
Work type:	Dissertation
Typology:	2.08 - Doctoral Dissertation
Organization:	MF - Faculty of Medicine
Abstract:	Dedna α-triptazemija je genetska lastnost, ki nastane zaradi povečanega števila kopij gena, ki kodira α-triptazo, in je povezana z mastocitozo pri odraslih. Namen raziskave je bil oceniti povezavo med α-triptazo in mastocitozo v pediatrični populaciji ter preveriti, ali mutacija KIT p.D816V v levkocitih periferne krvi napoveduje sistemsko bolezen pri otrocih. V prospektivno kohorto je bilo vključenih 68 otrok s kožno mastocitozo, obravnavanih v terciarnem centru v Sloveniji. Genotipizacija triptaze je bila opravljena z metodo kapljičnega digitalnega PCR, prisotnost mutacije KIT p.D816V v levkocitih periferne krvi pa smo določali z visoko občutljivim PCR-testom. Večina bolnikov (57 od 68; [83,8 %]) je imela vsaj eno kopijo gena za α-triptazo; pri nobenem nismo potrdili dedne α-triptazemije. Med bolniki s pozitivnim izvidom za KIT p.D816V v levkocitih periferne krvi (7/68; [10,3%] je eden izpolnjeval diagnostična merila za indolentno sistemsko mastocitozo, pri drugem pa smo postavili diagnozo monoklonskega sindroma aktivacije mastocitov. Eden izmed teh je imel tudi povišano koncentracijo bazalne serumske triptaze (14,5 ng/mL). Ugotovili smo visoko prisotnost zarodne α-triptaze pri otrocih z mastocitozo, ne pa dedne α-triptazemije. Rezultati, z uporabo občutljivega določanja mutacije KIT p.D816V kažejo, da je lahko prisotnost mutacije KIT p.D816V v periferni krvi pokazatelj sistemske bolezni pri otrocih s kožno mastocitozo.
Keywords:	KIT D816V, dedna α-triptazemija, mastocitoza, pediatrija, periferna kri, kostni mozeg
Place of publishing:	Maribor
Publisher:	[O. Točkova]
Year of publishing:	2026
PID:	20.500.12556/DKUM-97534
UDC:	616.5-053.2-056-097:577.27(043.3)
COBISS.SI-ID:	285941507
Publication date in DKUM:	06.08.2026
Views:	195
Downloads:	9
Metadata:
Categories:	MF
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Licences

License:	CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International

Link:	http://creativecommons.org/licenses/by-nc-nd/4.0/
Description:	The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.
Licensing start date:	16.03.2026

Secondary language

Language:	English
Title:	KIT p.D816V mutation in peripheral blood and tryptase locus genotyping in pediatric patients with cutaneous mastocytosis
Abstract:	Hereditary α-tryptasemia a genetic trait caused by increased α-tryptase-encoding typtase alpha/beta-1 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 reliably predicts systemic mastocytosis in children. A prospective cohort of 68 children from a referral center in Slovenia with cutaneous mastocytosis 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 systemic mastocytosis, and another was diagnosed with monoclonal mast cell activation syndrome. One of those individuals had an increased basal serum tryptase level (14.5 ng/mL). We found a high presence of germline α-tryptase in children with cutaneous mastocytosis, but not hereditary α-tryptasemia. 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 peripheral blood leukocytes may indicate systemic disease in children with cutaneous mastocytosis .
Keywords:	KIT D816V, hereditary α-tryptasemia, mastocytosis, pediatrics, peripheral blood, bone marrow

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