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

Rachel Guest; John Van Arnam; Darryl Kinnear; Fouad El-Dana; Kelsey Hummel; Anthea Lafreniere; Eumenia Castro; Melissa Blessing

doi:10.1177/10935266261449073

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

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

Rachel Guest, John Van Arnam, Darryl Kinnear, Fouad El-Dana, Kelsey Hummel, Anthea Lafreniere, Eumenia Castro and Melissa Blessing

Pediatric and developmental pathology

05/30/2026

DOI: 10.1177/10935266261449073

PMID: 42218607

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Abstract

DICER1 syndrome is a rare autosomal dominant cancer predisposition syndrome caused by germline mutations in the 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.

neonatal

pleuropulmonary blastoma

embryonal tumor with multilayered rosettes

autopsy

DICER1 syndrome

ovarian anomaly

Details

Title: Subtitle: Lethal Suspected DICER1 Syndrome Spectrum in Neonate with CPAM Type IV/Type I PPB, Genitourinary Abnormalities, and CNS Embryonal Tumor with Multilayered Rosettes
Creators: Rachel Guest - Baylor College of Medicine
John Van Arnam - Baylor College of Medicine
Darryl Kinnear - Baylor College of Medicine
Fouad El-Dana - Baylor College of Medicine
Kelsey Hummel - Baylor College of Medicine
Anthea Lafreniere - Baylor College of Medicine
Eumenia Castro - University of Wisconsin–Madison
Melissa Blessing - University of Iowa
Resource Type: Journal article
Publication Details: Pediatric and developmental pathology
DOI: 10.1177/10935266261449073
PMID: 42218607
NLM abbreviation: Pediatr Dev Pathol
ISSN: 1615-5742
eISSN: 1615-5742
Publisher: Sage
Language: English
Electronic publication date: 05/30/2026
Academic Unit: Pathology
Record Identifier: 9985167650302771

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