{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T04:34:59Z","timestamp":1782448499946,"version":"3.54.5"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T00:00:00Z","timestamp":1571875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["nyaspubs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Assessment of telomere length (TL) in peripheral blood leukocytes is part of the diagnostic algorithm applied to patients with acquired bone marrow failure syndromes (BMFSs) and dyskeratosis congenita (DKC). Monochrome multiplex\u2013quantitative polymerase chain reaction (MM\u2013qPCR) and fluorescence <jats:italic>in situ<\/jats:italic> hybridization (flow\u2010FISH) are methodologies available for TL screening. Dependent on TL expressed in relation to percentiles of healthy controls, further genetic testing for inherited mutations in telomere maintenance genes is recommended. However, the correct threshold to trigger this genetic workup is still under debate. Here, we prospectively compared MM\u2013qPCR and flow\u2010FISH regarding their capacity for accurate identification of DKC patients. All patients (<jats:italic>n<\/jats:italic>\u00a0=\u00a0105) underwent genetic testing by next\u2010generation sequencing and in 16 patients, mutations in DKC\u2010relevant genes were identified. Whole leukocyte TL of patients measured by MM\u2013qPCR was found to be moderately correlated with lymphocyte TL measured by flow\u2010FISH (<jats:italic>r<\/jats:italic>\u00b2\u00a0=\u00a00.34; <jats:italic>P<\/jats:italic> &lt; 0.0001). The sensitivity of both methods was high, but the specificity of MM\u2013qPCR (29%) was significantly lower compared with flow\u2010FISH (58%). These results suggest that MM\u2013qPCR of peripheral blood cells is inferior to flow\u2010FISH for clinical routine screening for suspected DKC in adult patients with BMFS due to lower specificity and a higher rate of false\u2010positive results.<\/jats:p>","DOI":"10.1111\/nyas.14248","type":"journal-article","created":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T17:24:19Z","timestamp":1571937859000},"page":"93-103","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Comparison of flow\u2010FISH and MM\u2013qPCR telomere length assessment techniques for the screening of telomeropathies"],"prefix":"10.1111","volume":"1466","author":[{"given":"Monica S. Ventura","family":"Ferreira","sequence":"first","affiliation":[{"name":"Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty RWTH Aachen University, University Hospital Aachen  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Kirschner","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty RWTH Aachen University, University Hospital Aachen  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Insa","family":"Halfmeyer","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty RWTH Aachen University, University Hospital Aachen  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Estrada","sequence":"additional","affiliation":[{"name":"Hematology 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Sophie","family":"Bouillon","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty RWTH Aachen University, University Hospital Aachen  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Begemann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Faculty RWTH Aachen University  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirle","family":"Schemionek","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty RWTH Aachen University, University Hospital Aachen  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Maurer","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty RWTH Aachen University, University Hospital Aachen  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Koschmieder","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty RWTH Aachen University, University Hospital Aachen  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Wilop","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty RWTH Aachen University, University Hospital Aachen  Aachen 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