{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T07:20:38Z","timestamp":1772090438528,"version":"3.50.1"},"reference-count":35,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T00:00:00Z","timestamp":1772064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cell Dev. Biol."],"abstract":"\n Background<\/jats:title>\n \n Mastocytosis is a rare clonal hematological neoplasm, characterized by cutaneous manifestations in children and categorized as: maculopapular cutaneous mastocytosis (MPCM), diffuse cutaneous mastocytosis (DCM) and mastocytoma. Systemic mastocytosis (SM) typically occurs in adults with c-\n KIT<\/jats:italic>\n D816V mutation. Additional genetic mutations (\n TET2<\/jats:italic>\n ,\n NRAS<\/jats:italic>\n ,\n SF3B1<\/jats:italic>\n ,\n ASXL1<\/jats:italic>\n , etc.) have been detected using Next-Generation Sequencing (NGS) in the adult population while limited information is available in the pediatric setting.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n 36 patients (pts) with pediatric mastocytosis diagnosed between 1997 and 2021 were included. Peripheral blood samples were collected to detect c-\n KIT<\/jats:italic>\n D816V mutation, using both RT-PCR and ddPCR techniques, and to investigate other molecular mutations using NGS panel for rare and myeloid genes.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Median age of lesion onset was 4.7\u00a0months (range birth-17.8\u00a0years). 58% of the cohort underwent cutaneous biopsy after a median 3.77\u00a0months from lesion onset (range 2.49\u00a0months\u201311.6\u00a0years). 20 (55%) were classified as MPCM, 10 (28%) as DCM and 6 (17%) as mastocytoma. Median tryptase value at the onset was 5\u00a0ng\/mL: MPCM (range 1.2\u2013141\u00a0ng\/mL) vs. DCM (range 2.71\u201319.4\u00a0ng\/mL) vs. mastocytoma (range 3.8\u20137.3\u00a0ng\/mL). Two MPCM pts developed indolent SM (ISM) after 10 and 20\u00a0years from the onset of disease. RT-PCR identified c-\n KIT<\/jats:italic>\n D816V mutation in 4\u00a0pts (2 MPCM, 1 DCM, 1 ISM). NGS revealed the precedent mutation in 3\u00a0pts, c-\n KIT<\/jats:italic>\n D816Y and c-\n KIT<\/jats:italic>\n Y553C in 2\u00a0pts. An additional 10 myeloid gene mutations were detected by NGS: 5 already known (\n ASXL1<\/jats:italic>\n G1397S;\n JAK2<\/jats:italic>\n L393V; c-\n KIT<\/jats:italic>\n D816Y;\n LNK<\/jats:italic>\n E208Q;\n TET2<\/jats:italic>\n Y867H) and 5 not previously described (\n ETV6<\/jats:italic>\n A215P; c-\n KIT<\/jats:italic>\n Y553C;\n NFE2<\/jats:italic>\n I291T;\n SH2B3<\/jats:italic>\n G382D;\n SH2B3<\/jats:italic>\n L438V). A single mutation was found in 7\u00a0pts (3 MPCM, 3 DCM, 1 ISM), while two or more mutations in 3 DCM pts. Overall, 9\/36\u00a0pts (5 DCM, 3 MPCM, 1 mastocytoma) presented spontaneous complete regression of cutaneous lesions after a median time of 25\u00a0months (range 17\u00a0months\u201325\u00a0years).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n c-\n KIT<\/jats:italic>\n mutations resulted in 35% of the children tested. The RT-PCR technique resulted more sensitive in finding c-\n KIT<\/jats:italic>\n D816V, while NGS in detecting other mutations whose prognostic roles require further investigation.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3389\/fcell.2026.1780799","type":"journal-article","created":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T06:54:05Z","timestamp":1772088845000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular characterization of pediatric mastocytosis revealed different somatic mutations with uncertain prognostic value"],"prefix":"10.3389","volume":"14","author":[{"given":"Deborah","family":"Kasmi","sequence":"first","affiliation":[{"name":"Hematology, Department of Translational and Precision Medicine, Policlinico Umberto I- Sapienza University","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiorina","family":"Giona","sequence":"additional","affiliation":[{"name":"Hematology, Department of Translational and Precision Medicine, Policlinico Umberto I- Sapienza University","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Ribersani","sequence":"additional","affiliation":[{"name":"Hematology, Department of Translational and Precision Medicine, Policlinico Umberto I- Sapienza University","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Sforzini","sequence":"additional","affiliation":[{"name":"Hematology, Department of Translational and Precision Medicine, Policlinico Umberto I- Sapienza University","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Breccia","sequence":"additional","affiliation":[{"name":"Hematology, Department of Translational and Precision Medicine, Policlinico Umberto I- Sapienza University","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Palumbo","sequence":"additional","affiliation":[{"name":"Hematology, Department of Translational and Precision Medicine, Policlinico Umberto I- Sapienza University","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1182\/blood-2009-03-210039","article-title":"Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies","volume":"114","author":"Abdel-Wahab","year":"2009","journal-title":"Blood"},{"key":"B2","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/j.iac.2014.02.003","article-title":"Diagnostic criteria and classification of mastocytosis in 2014","volume":"34","author":"Akin","year":"2014","journal-title":"Immunol. 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