Human · observationalMechanismReported positiveLimited evidenceTier 3 · early humann = 3
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · Jan 2020 · case series (3 cases) with comprehensive literature review
ovarian sarcomaperitoneal sarcomaintracranial sarcomapleuropulmonary blastomagenitourinary embryonal rhabdomyosarcomaanaplastic sarcoma of the kidney
The authors report three pediatric sarcoma cases (ovarian with germline DICER1 mutation; metastatic peritoneal and primary intracranial with somatic DICER1 mutations) and performed a literature review of DICER1-associated sarcomas. The review (including 83 cases) shows a consistent heterogeneous histologic pattern similar to pleuropulmonary blastoma across sites. They recommend that this distinctive histology should prompt review of family history and DICER1 mutation testing to enable genetic counseling and imaging surveillance.
Reported effects: cases_reported 3, n=3 · literature_review_count 83, n=83
Key findings
- Reported three pediatric sarcomas associated with DICER1 mutations: a germline DICER1-associated ovarian sarcoma (5-year-old female), a somatic DICER1-associated metastatic peritoneal sarcoma (16-year-old female), and a somatic DICER1-associated primary intracranial sarcoma (4-year-old male).
- Comprehensive literature review including 83 DICER1-associated sarcomas demonstrates a consistent histologic pattern that mimics pleuropulmonary blastoma regardless of site.
- Characteristic histologic features include undifferentiated small round blue cells, poorly differentiated spindle cells, and large bizarre pleomorphic (anaplastic) cells, often with rhabdomyoblastic and/or chondroid differentiation and occasional bone/osteoid formation.
- The authors state that this heterogeneous histologic pattern should prompt detailed family-history review and DICER1 mutation analysis, facilitating genetic counseling, caregiver education, and imaging-based surveillance.
Limitations: Small case series (n=3) reported from a retrospective/case-report design; Descriptive literature review without systematic meta-analysis or pooled quantitative synthesis; No functional experiments in this report to demonstrate biological causality between DICER1 variants and the described histology; Findings may be subject to reporting/selection bias and limited generalizability.
Expands the phenotypic spectrum of DICER1-associated tumors and highlights a characteristic histology that may indicate underlying DICER1 mutations.
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed · Full text
ReviewMechanismInconclusiveModerate evidenceTier 3 · early human
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti · Jul 2019
pleuropulmonary blastomamultinodular goiterovarian Sertoli-Leydig cell tumorcystic nephromamedulloepithelioma (ciliary body/iris)embryonal rhabdomyosarcoma (botryoid type)nasal epithelial/chondromesenchymal hamartomapituitary blastomapineoblastomadifferentiated thyroid carcinomapulmonary blastomawell-differentiated fetal lung adenocarcinomaanaplastic sarcoma of the kidneyprimary ovarian sarcomaPPB-like peritoneal sarcomamulticystic liver neoplasmsWilms tumor
This article summarizes the clinical features, genetic diagnosis, management, and surveillance recommendations for DICER1 syndrome, an inherited disorder caused by germline DICER1 pathogenic variants that predispose to a spectrum of benign and malignant tumors. It lists the most common associated tumors (e.g., pleuropulmonary blastoma, thyroid nodules, ovarian Sertoli-Leydig cell tumors) and gives recommended surveillance schedules and guidance on genetic testing and cascade testing for relatives. The authors note autosomal dominant inheritance with reduced penetrance and state diagnosis is by identification of a heterozygous germline DICER1 pathogenic variant.
Key findings
- DICER1 syndrome is caused by pathogenic variants in the DICER1 gene (located at chromosome 14q32.13) and is associated with increased risk of a spectrum of malignant and benign tumors.
- The most common clinical features include lung cysts and thyroid nodules; common neoplasms include pleuropulmonary blastoma, Sertoli-Leydig cell tumor, pediatric cystic nephroma, and differentiated thyroid carcinoma.
- A broad and variable tumor spectrum is reported, with many tumors occurring before age 40 and PPB typically presenting in children younger than seven years.
- Diagnosis is established by identification of a heterozygous germline DICER1 pathogenic variant presumed to cause loss of function.
- Management of DICER1-associated tumors is tumor-type dependent and may include surgery, chemotherapy, and in some cases radiation; surveillance recommendations (based on the 2016 International PPB Register) are provided for chest imaging, thyroid ultrasound, pelvic and abdominal ultrasound, ophthalmologic assessment, and neurologic monitoring.
- Genetic counseling is recommended, with cascade testing of at-risk first-degree relatives and consideration of testing soon after birth because screening often begins in infancy.
Limitations: This is a review/clinical overview rather than original primary quantitative research.; Surveillance recommendations are presented but the abstract does not provide quantitative evidence of their effectiveness.; Recommendations appear to be based on existing guidance (2016 International PPB Register) and may reflect expert consensus rather than prospective trial data.; Variable penetrance and broad tumor spectrum limit precise risk prediction for individual carriers..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed