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Several studies identified the influencing factors on IST response; however, there are still a considerable number of patients suffering from poor prognoses. In this study, we enrolled 61 AA patients aged \u2264 40 years old, and whole-exome sequencing (WES) found unexpected high <jats:italic>FANC<\/jats:italic> heterozygous germline mutations (28\/61, 45.9%). Patients with <jats:italic>FANC<\/jats:italic> mutations have a significantly lower absolute reticulocyte count and CD34<jats:sup>+<\/jats:sup> % in the bone marrow and also lower 3-, 6-, and 9-month IST response than that without mutation, which were 0% vs. 25% (<jats:italic>P<\/jats:italic> = 0.017), 26.3% vs. 42.1% (<jats:italic>P<\/jats:italic> = 0.495), and 29.4% vs. 72.2% (<jats:italic>P<\/jats:italic> = 0.011), especially in anti-thymocyte globulin combined with the cyclosporin A (ATG + CsA) group, which were 0% vs.33.4% (<jats:italic>P<\/jats:italic> = 0.143), 25% vs.83.3% (<jats:italic>P<\/jats:italic> = 0.103), and 25% vs. 100% (<jats:italic>P<\/jats:italic> = 0.003), respectively. The event-free survival in the <jats:italic>FANC<\/jats:italic><jats:sup>wt<\/jats:sup> group was also better than that in the <jats:italic>FANC<\/jats:italic><jats:sup>mut<\/jats:sup> group (<jats:italic>P<\/jats:italic> = 0.016) and also showed in patients who received ATG + CsA treatment (<jats:italic>P<\/jats:italic> = 0.045). In addition, all the adverse effects of <jats:italic>FANC<\/jats:italic> germline mutation were not significant in stem cell\u2013transplanted group. Our result indicated that the WES-based detection of <jats:italic>FANC<\/jats:italic> heterozygous germline mutations may have a great meaning in predicting IST response of acquired AA. This study was registered at <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/chictr.org.cn\">chictr.org.cn<\/jats:ext-link> (# ChiCTR2100054992).<\/jats:p>","DOI":"10.1007\/s00277-023-05086-9","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T15:14:09Z","timestamp":1673277249000},"page":"503-517","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Whole-exome sequencing identifies FANC heterozygous germline mutation as an adverse factor for immunosuppressive therapy in Chinese aplastic anemia patients aged 40 or younger: a single-center retrospective study"],"prefix":"10.1007","volume":"102","author":[{"given":"Yingying","family":"Shen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hangchao","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenbin","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijin","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuechao","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuzhu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinghong","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haifeng","family":"Zhuang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liqiang","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiping","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyin","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianping","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shenyun","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiping","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhong","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baodong","family":"Ye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2338-9365","authenticated-orcid":false,"given":"Dijiong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,1,9]]},"reference":[{"issue":"8","key":"5086_CR1","doi-asserted-by":"publisher","first-page":"2509","DOI":"10.1182\/blood-2006-03-010777","volume":"108","author":"NS Young","year":"2006","unstructured":"Young NS, Calado RT, Scheinberg P (2006) Current concepts in the pathophysiology and treatment of aplastic anemia. 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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare no conflict of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}