{
  "abstract": "DICER1 syndrome is a rare autosomal dominant cancer predisposition syndrome caused by germline mutations in the DICER1 gene and several associated benign and malignant entities. This case describes a premature 8-day old neonate prenatally diagnosed with renal and cystic lung abnormalities who died from severe respiratory dysfunction. Autopsy additionally revealed ETMR and genitourinary abnormalities, leading to the diagnosis of probable DICER1 syndrome. While the family declined postmortem genetic testing, detailed postmortem examination led to important diagnoses capable of guiding clinical follow-up and future family planning.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX, USA",
    "Independent Researcher, Houston, TX, USA",
    "Department of Pathology, Texas Children’s Hospital, Houston, TX, USA",
    "LTC Charles S. Kettles VA Medical Center, Ann Arbor, MI, USA",
    "The Hospital for Sick Children (SickKids) and the University of Toronto, Toronto, ON, Canada",
    "University of Wisconsin, Madison, WI, USA",
    "University of Iowa Health Care and Carver College of Medicine, Iowa City, IA, USA"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Rachel Guest",
      "orcid": "0009-0006-2502-5951"
    },
    {
      "affs": [
        1
      ],
      "name": "John Van Arnam"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Darryl Kinnear"
    },
    {
      "affs": [
        0
      ],
      "name": "Fouad El-Dana"
    },
    {
      "affs": [
        0,
        3
      ],
      "name": "Kelsey Hummel"
    },
    {
      "affs": [
        0,
        2,
        4
      ],
      "name": "Anthea Lafreniere"
    },
    {
      "affs": [
        0,
        2,
        5
      ],
      "name": "Eumenia Castro"
    },
    {
      "affs": [
        0,
        2,
        6
      ],
      "name": "Melissa Blessing"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/72v7tasswkzwt.bib",
  "cited_by": 0,
  "doi": "10.1177/10935266261449073",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13724818/",
  "id": "72v7tasswkzwt",
  "issns": [
    "1093-5266",
    "1615-5742"
  ],
  "landing_url": "https://doi.org/10.1177/10935266261449073",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Reports"
    ],
    [
      "openalex",
      "2746|Congenital Diaphragmatic Hernia Studies"
    ]
  ],
  "openalex": "W7162951254",
  "pdf_url": null,
  "pmcid": "PMC13724818",
  "pmid": "42218607",
  "published": "2026-05-30",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/72v7tasswkzwt.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T12:23:19Z",
      "native_id": "PMC13724818",
      "source": "pmc",
      "url": "https://doi.org/10.1177/10935266261449073"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2746|Congenital Diaphragmatic Hernia Studies",
      "subfield": "surgery"
    }
  ],
  "title": "Lethal Suspected DICER1 Syndrome Spectrum in Neonate with CPAM Type IV/Type I PPB, Genitourinary Abnormalities, and CNS Embryonal Tumor with Multilayered Rosettes",
  "title_text": "Lethal Suspected DICER1 Syndrome Spectrum in Neonate with CPAM Type IV/Type I PPB, Genitourinary Abnormalities, and CNS Embryonal Tumor with Multilayered Rosettes",
  "type": "peer-reviewed",
  "updated_at": "2026-11-06T12:21:12Z",
  "url": "https://research.draconitic.com/paper/72v7tasswkzwt",
  "venue": "Pediatric and Developmental Pathology",
  "versions": []
}