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The presacral masses are typically benign; however, malignant degeneration can occur, and presacral neuroendocrine tumors (NETs) have been reported in six cases. We report three individuals from two families affected by CS in which multiple individuals developed presacral NETs. The first family, 491, had six members with features of CS, including two siblings who presented with presacral, Grade 2 NETs, one of which had metastasized to bone and lymph nodes. A germline c.874C&gt;T (p.Arg292Trp) mutation was found in a highly conserved region of <jats:italic>MNX1<\/jats:italic> in three affected members who underwent sequencing. A second somatic variant\/deletion in <jats:italic>MNX1<\/jats:italic> was not detected in either patient's tumor. In the second family, 342, the proband presented with an incidentally discovered presacral NET. The proband's father had previously undergone resection of a presacral NET, and so genetic testing was performed, which did not reveal an <jats:italic>MNX1<\/jats:italic> mutation or copy number variants. The lack of a second, somatic mutation in the tumors from family 491 argues against <jats:italic>MNX1<\/jats:italic> acting as a tumor suppressor, and the absence of a germline <jats:italic>MNX1<\/jats:italic> mutation in family 342 suggests that other genetic and anatomic factors contribute to the development of presacral NETs. These cases highlight the variable presentation of CS, and the potential for malignancy in these patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.62145","type":"journal-article","created":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T05:40:01Z","timestamp":1614663601000},"page":"1582-1588","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Presacral neuroendocrine tumors associated with the Currarino syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1656-863X","authenticated-orcid":false,"given":"Aaron T.","family":"Scott","sequence":"first","affiliation":[{"name":"Department of Surgery University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathon B.","family":"Tessmann","sequence":"additional","affiliation":[{"name":"Center for Bioinformatics and Computational Biology University of Iowa College 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