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Peer-reviewedCC BY 4.0Pediatric and Developmental Pathology

Lethal Suspected DICER1 Syndrome Spectrum in Neonate with CPAM Type IV/Type I PPB, Genitourinary Abnormalities, and CNS Embryonal Tumor with Multilayered Rosettes

  • Rachel Guest1
  • John Van Arnam2
  • Darryl Kinnear1,3
  • Fouad El-Dana1
  • Kelsey Hummel1,4
  • Anthea Lafreniere1,3,5
  • Eumenia Castro1,3,6
  • Melissa Blessing1,3,7
7 affiliations
  1. 1Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX, USA
  2. 2Independent Researcher, Houston, TX, USA
  3. 3Department of Pathology, Texas Children’s Hospital, Houston, TX, USA
  4. 4LTC Charles S. Kettles VA Medical Center, Ann Arbor, MI, USA
  5. 5The Hospital for Sick Children (SickKids) and the University of Toronto, Toronto, ON, Canada
  6. 6University of Wisconsin, Madison, WI, USA
  7. 7University of Iowa Health Care and Carver College of Medicine, Iowa City, IA, USA
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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.

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Cite

BibTeXRIS
BibTeX
@article{guest2026lethal,
  title = {{Lethal Suspected DICER1 Syndrome Spectrum in Neonate with CPAM Type IV/Type I PPB, Genitourinary Abnormalities, and CNS Embryonal Tumor with Multilayered Rosettes}},
  author = {Rachel Guest and John Van Arnam and Darryl Kinnear and Fouad El-Dana and Kelsey Hummel and Anthea Lafreniere and Eumenia Castro and Melissa Blessing},
  journal = {Pediatric and Developmental Pathology},
  year = {2026},
  month = may,
  doi = {10.1177/10935266261449073},
  url = {https://doi.org/10.1177/10935266261449073},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Lethal Suspected DICER1 Syndrome Spectrum in Neonate with CPAM Type IV/Type I PPB, Genitourinary Abnormalities, and CNS Embryonal Tumor with Multilayered Rosettes
AU  - Rachel Guest
AU  - John Van Arnam
AU  - Darryl Kinnear
AU  - Fouad El-Dana
AU  - Kelsey Hummel
AU  - Anthea Lafreniere
AU  - Eumenia Castro
AU  - Melissa Blessing
PY  - 2026
DA  - 2026/05/30
JO  - Pediatric and Developmental Pathology
DO  - 10.1177/10935266261449073
UR  - https://doi.org/10.1177/10935266261449073
AB  - 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.
SN  - 1093-5266
SN  - 1615-5742
ER  -