Dental abnormalities in individuals with pathogenic germline variation in <i>DICER1</i>

Choi, Soo Hyuk; Lee, Janice S.; Bassim, Carol W.; Kushner, Harvey; Carr, Ann G.; Gardner, Pamela J.; Harney, Laura A.; Schultz, Kris Ann P.; Stewart, Douglas R.

doi:10.1002/ajmg.a.61292

Cited by 5 publications

(2 citation statements)

References 26 publications

(26 reference statements)

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“…In the head and neck, chondromesenchymal sinonasal hamartoma (mostly hereditary [ 4 ]) and thyroblastoma (likely sporadic [ 47 ]) represent the most well characterized DICER1 -related manifestations. Among dental abnormalities and phenotypes associated with the DICER1 syndrome are bulbous crown, periodontitis, and taurodontism [ 48 ].…”

Section: Discussionmentioning

confidence: 99%

DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case

Erber

Preidl

Stoehr

et al. 2021

Head and Neck Pathol

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DICER1, a member of the ribonuclease III family, is involved in the biogenesis of microRNAs and, hence, it influences gene expression regulation. DICER1 germline (associated with the inherited DICER1 syndrome) or somatic mutations have been linked to tumorigenesis in histogenetically diverse benign and malignant neoplasms in different organs including pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, nasal chondromesenchymal hamartoma, poorly differentiated thyroid carcinoma, thyroblastoma, intracranial sarcoma and gonadal Sertoli-Leydig cell tumors in addition to others. Moreover, rare botryoid (giant) fibroepithelial polyps may harbor this mutation. Herein, we describe the first reported case of a DICER1-mutated botryoid fibroepithelial polyp occurring within the parotid duct of a 65-year-old female who has no other features or family history of the DICER1 syndrome. Based on its distinctive morphology, we tested this lesion specifically for DICER1 mutations and confirmed the presence of a pathogenic DICER1 variant with a low allele frequency, consistent with a somatic mutation.

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Section: Discussionmentioning

confidence: 99%

DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case

Erber

Preidl

Stoehr

et al. 2021

Head and Neck Pathol

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“…Prior studies have shown that knockout DICER1 models results in various tooth abnormalities since miRNAs have a crucial role in tooth epithelial stem cell differentiation 188 – 190 . It was then hypothesized that DICER1 carriers may present with a spectrum of dental abnormalities and was tested in 57 DICER1 carriers and 55 family controls 191 . Some significant differences included an excess of crown bulbousness, taurodontism and periodontitis in the DICER1 carriers 188 .…”

Section: Other Non-neoplastic Dicer1 Associationsmentioning

confidence: 99%

DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma

et al. 2022

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DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common tumor seen clinically is the pleuropulmonary blastoma (PPB), a lung neoplasm of early childhood which is classified on its morphologic features into four types (IR, I, II and III) with tumor progression over time within the first 4–5 years of life from the prognostically favorable cystic type I to the unfavorable solid type III. Following the initial report of PPB, its association with other cystic neoplasms was demonstrated in family studies. The detection of the germline mutation in DICER1 provided the opportunity to identify and continue to recognize a number seemingly unrelated extrapulmonary neoplasms: Sertoli-Leydig cell tumor, gynandroblastoma, embryonal rhabdomyosarcomas of the cervix and other sites, multinodular goiter, differentiated and poorly differentiated thyroid carcinoma, cervical-thyroid teratoma, cystic nephroma-anaplastic sarcoma of kidney, nasal chondromesenchymal hamartoma, intestinal juvenile-like hamartomatous polyp, ciliary body medulloepithelioma, pituitary blastoma, pineoblastoma, primary central nervous system sarcoma, embryonal tumor with multilayered rosettes-like cerebellar tumor, PPB-like peritoneal sarcoma, DICER1-associated presacral malignant teratoid neoplasm and other non-neoplastic associations. Each of these neoplasms is characterized by a second somatic mutation in DICER1. In this review, we have summarized the salient clinicopathologic aspects of these tumors whose histopathologic features have several overlapping morphologic attributes particularly the primitive mesenchyme often with rhabdomyoblastic and chondroid differentiation and an uncommitted spindle cell pattern. Several of these tumors have an initial cystic stage from which there is progression to a high grade, complex patterned neoplasm. These pathologic findings in the appropriate clinical setting should serve to alert the pathologist to the possibility of a DICER1-associated neoplasm and initiate appropriate testing on the neoplasm and to alert the clinician about the concern for a DICER1 mutation.

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DICER1 Syndrome

Foulkes

Kock

Priest

2021

The Hereditary Basis of Childhood Cancer

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Dental abnormalities in individuals with pathogenic germline variation in DICER1

Abstract: Pathogenic germline variation in the microRNA processing gene DICER1 gives rise to an autosomal dominant, tumor-predisposition disorder. Conditional deletion of Dicer1

Cited by 5 publications

References 26 publications

DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case

DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case

DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma

DICER1 Syndrome

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