{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T04:06:33Z","timestamp":1751429193380,"version":"3.41.0"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2024,11,14]],"date-time":"2024-11-14T00:00:00Z","timestamp":1731542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,11,14]],"date-time":"2024-11-14T00:00:00Z","timestamp":1731542400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Medizinische Hochschule Hannover (MHH)"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Virchows Arch"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>The majority of mastocytosis cases are characterized by an activating mutation in the <jats:italic>KIT<\/jats:italic> gene in codon 816. The detection of this alteration is of importance for proper diagnostic workup. Therefore, reliable and sensitive methods for the detection of <jats:italic>KIT<\/jats:italic> Codon 816 hotspot mutations in various types of patient samples are required. Since mutated cancer genes are often overexpressed, we evaluated the feasibility and sensitivity of <jats:italic>KIT<\/jats:italic> p.D816V detection by analysing mRNA\/cDNA instead of genomic DNA. From 80 bone marrow trephines harboring a <jats:italic>KIT<\/jats:italic> p.D816 mutation, seven were only mutated by mRNA\/cDNA pyrosequencing and 11 only by digital PCR analysis of genomic DNA. These results clearly demonstrate that detection of clinically relevant mutations in mRNA extracted from routinely processed decalcified archival bone marrow trephines is not only possible in a reliable fashion but under many circumstances advantageous. This enables the direct correlation of genomic data with high-quality morphological evaluation.<\/jats:p>","DOI":"10.1007\/s00428-024-03973-8","type":"journal-article","created":{"date-parts":[[2024,11,14]],"date-time":"2024-11-14T02:51:54Z","timestamp":1731552714000},"page":"1349-1353","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Sensitive and reliable detection of KIT p.D816V mutation in decalcified archival bone marrow trephines"],"prefix":"10.1007","volume":"486","author":[{"given":"Miriam","family":"Odensass","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephan","family":"Bartels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerome","family":"Schlue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guntram","family":"B\u00fcsche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans H.","family":"Kreipe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2350-6584","authenticated-orcid":false,"given":"Ulrich","family":"Lehmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,11,14]]},"reference":[{"key":"3973_CR1","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","volume":"36","author":"JD Khoury","year":"2022","unstructured":"Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, Bejar R, Berti E, Busque L, Chan JKC, Chen W, Chen X, Chng WJ, Choi JK, Colmenero I, Coupland SE, Cross NCP, De Jong D, Elghetany MT, Takahashi E, Emile JF, Ferry J, Fogelstrand L, Fontenay M, Germing U, Gujral S, Haferlach T, Harrison C, Hodge JC, Hu S, Jansen JH, Kanagal-Shamanna R, Kantarjian HM, Kratz CP, Li XQ, Lim MS, Loeb K, Loghavi S, Marcogliese A, Meshinchi S, Michaels P, Naresh KN, Natkunam Y, Nejati R, Ott G, Padron E, Patel KP, Patkar N, Picarsic J, Platzbecker U, Roberts I, Schuh A, Sewell W, Siebert R, Tembhare P, Tyner J, Verstovsek S, Wang W, Wood B, Xiao W, Yeung C, Hochhaus A (2022) The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic\/dendritic neoplasms. Leukemia 36:1703\u20131719. https:\/\/doi.org\/10.1038\/s41375-022-01613-1","journal-title":"Leukemia"},{"key":"3973_CR2","doi-asserted-by":"publisher","first-page":"366","DOI":"10.3324\/haematol.2019.217950","volume":"105","author":"G Greiner","year":"2020","unstructured":"Greiner G, Gurbisz M, Ratzinger F, Witzeneder N, Class SV, Eisenwort G, Simonitsch-Klupp I, Esterbauer H, Mayerhofer M, Mullauer L, Sperr WR, Valent P, Hoermann G (2020) Molecular quantification of tissue disease burden is a new biomarker and independent predictor of survival in mastocytosis. Haematologica 105:366\u2013374. https:\/\/doi.org\/10.3324\/haematol.2019.217950","journal-title":"Haematologica"},{"key":"3973_CR3","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1016\/j.jmoldx.2020.01.004","volume":"22","author":"S Bartels","year":"2020","unstructured":"Bartels S, Hasemeier B, Vogtmann J, Schipper E, Busche G, Schlue J, Kreipe H, Lehmann U (2020) Feasibility of combined detection of gene mutations and fusion transcripts in bone marrow trephines from leukemic neoplasms. J Mol Diagn 22:591\u2013598. https:\/\/doi.org\/10.1016\/j.jmoldx.2020.01.004","journal-title":"J Mol Diagn"},{"key":"3973_CR4","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1007\/978-1-4939-2715-9_8","volume":"1315","author":"S Bartels","year":"2015","unstructured":"Bartels S, Lehmann U (2015) Analysis of mutational hotspots in routinely processed bone marrow trephines by pyrosequencing(\u00ae). Methods Mol Biol 1315:103\u2013114. https:\/\/doi.org\/10.1007\/978-1-4939-2715-9_8","journal-title":"Methods Mol Biol"},{"key":"3973_CR5","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/s00277-013-1964-1","volume":"93","author":"P Erben","year":"2014","unstructured":"Erben P, Schwaab J, Metzgeroth G, Horny HP, Jawhar M, Sotlar K, Fabarius A, Teichmann M, Schneider S, Ernst T, Muller MC, Giehl M, Marx A, Hartmann K, Hochhaus A, Hofmann WK, Cross NC, Reiter A (2014) The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis. 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