Related Experiment Video
Updated: Jan 26, 2026
Optical Clearing of the Mouse Central Nervous System Using Passive CLARITY
Published on: June 30, 2016
An update on the central nervous system manifestations of DICER1 syndrome
Leanne de Kock1,2, John R Priest3, William D Foulkes1,2,4
1Department of Human Genetics, McGill University, 3640 Rue University, Room W-315D, Montreal, QC, H3A 0C7, Canada.
Abstract:
DICER1 syndrome is a rare tumor predisposition syndrome with manifestations that predominantly affect children and young adults. The syndrome is typically caused by heterozygous germline loss-of-function DICER1 alterations accompanied on the other allele by somatic missense mutations occurring at one of a few mutation hotspots within the sequence encoding the RNase IIIb domain. DICER1 encodes a member of the microRNA biogenesis machinery. The syndrome spectrum is highly pleiotropic and features a unique constellation of benign and malignant neoplastic and dysplastic lesions. Pleuropulmonary blastoma (PPB), the most common primary lung cancer in children, is the hallmark tumor of the syndrome. Other manifestations include ovarian Sertoli-Leydig cell tumor, cystic nephroma arising in childhood, multinodular goiter, thyroid carcinoma, anaplastic sarcoma of the kidney, embryonal rhabdomyosarcoma, and nasal chondromesenchymal hamartoma, in addition to other rare entities. Several central nervous system (CNS) manifestations have also been defined, including metastases of PPB to the cerebrum, pituitary blastoma, pineoblastoma, ciliary body medulloepithelioma, and most recently primary DICER1-associated CNS sarcomas and ETMR-like infantile cerebellar embryonal tumor. Macrocephaly is a recently reported non-neoplastic, haploinsufficient phenotype. In this manuscript, we review the CNS manifestations of DICER1 syndrome.
Insights
DICER1 syndrome, a rare genetic disorder, predisposes individuals to various tumors, particularly affecting young people. This review focuses on the central nervous system (CNS) manifestations associated with this condition.
Area of Science:
- Genetics
- Oncology
- Pediatrics
Background:
- DICER1 syndrome is a rare genetic disorder characterized by a predisposition to diverse benign and malignant tumors.
- It arises from specific DICER1 gene alterations, impacting microRNA biogenesis.
- The syndrome presents a wide spectrum of clinical features, predominantly in children and young adults.
Purpose of the Study:
- To comprehensively review the central nervous system (CNS) manifestations of DICER1 syndrome.
- To consolidate current knowledge on neurological and CNS-related neoplastic conditions linked to DICER1 alterations.
- To highlight the diversity of CNS involvement in this rare tumor predisposition syndrome.
Main Methods:
- Literature review of published studies and case reports on DICER1 syndrome.
- Analysis of reported CNS manifestations, including tumors and non-neoplastic conditions.
- Synthesis of genetic mechanisms and clinical presentations related to CNS involvement.
Main Results:
- DICER1 syndrome is associated with a range of CNS tumors, such as pituitary blastoma, pineoblastoma, and medulloepithelioma.
- Metastases from pleuropulmonary blastoma (PPB) to the cerebrum are a significant CNS finding.
- Recently identified CNS manifestations include primary DICER1-associated CNS sarcomas and ETMR-like tumors, as well as non-neoplastic macrocephaly.
Conclusions:
- The central nervous system is a key site for diverse manifestations in DICER1 syndrome.
- Understanding these CNS features is crucial for accurate diagnosis, management, and genetic counseling.
- Further research is needed to fully elucidate the pathogenesis and clinical spectrum of CNS involvement in DICER1 syndrome.
Related Concept Videos
01:25What is a Nervous System?
01:19Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations
01:14The Parasympathetic Nervous System
01:25The Sympathetic Nervous System
01:25The Central Dogma
01:21Nervous System