[HTML][HTML] DICER1 Syndrome: DICER1 Mutations in Rare Cancers

JC Robertson, CL Jorcyk, JT Oxford - Cancers, 2018 - mdpi.com
DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer
types. Through mutations of the gene encoding the endoribonuclease, Dicer, DICER1 …

Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes

L de Kock, MK Wu, WD Foulkes - Human Mutation, 2019 - Wiley Online Library
DICER1 syndrome is a pleiotropic tumor predisposition syndrome characterized by a
distinctive constellation of neoplastic and dysplastic lesions, which are generally rare and …

The American Association of Endocrine Surgeons guidelines for the definitive surgical management of thyroid disease in adults

KN Patel, L Yip, CC Lubitz, EG Grubbs, BS Miller… - Annals of …, 2020 - journals.lww.com
Objective: To develop evidence-based recommendations for safe, effective, and appropriate
thyroidectomy. Background: Surgical management of thyroid disease has evolved …

An update on the central nervous system manifestations of DICER1 syndrome

L de Kock, JR Priest, WD Foulkes… - Acta neuropathologica, 2020 - Springer
DICER1 syndrome is a rare tumor predisposition syndrome with manifestations that
predominantly affect children and young adults. The syndrome is typically caused by …

DICER1‐associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: pathology, molecular genetics, and indications for molecular testing

M Apellaniz‐Ruiz, WG McCluggage… - Genes …, 2021 - Wiley Online Library
Gynecologic sarcomas are uncommon neoplasms, the majority occurring in the uterus. Due
to the diverse nature of these, the description of “new” morphological types and the rarity of …

Primary Lung Tumors in Children: Radiologic-Pathologic Correlation From the Radiologic Pathology Archives

JP Lichtenberger III, DM Biko, BW Carter, MA Pavio… - Radiographics, 2018 - pubs.rsna.org
Primary lung tumors in children are rare, with a narrow range of diagnostic considerations.
However, the overlapping imaging appearances of these tumors necessitate attention to key …

[HTML][HTML] Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical …

JJ Bakhuizen, H Hanson, K van der Tuin, F Lalloo… - Familial Cancer, 2021 - Springer
DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors.
Developing surveillance protocols for this syndrome is challenging because uncertainty …

Clinical outcomes and complications of pituitary blastoma

APY Liu, MM Kelsey, N Sabbaghian… - The Journal of …, 2021 - academic.oup.com
Context Pituitary blastoma is a rare, dysontogenetic hypophyseal tumor of infancy first
described in 2008, strongly suggestive of DICER1 syndrome. Objective This work aims to …

Imaging of DICER1 syndrome

RP Guillerman, WD Foulkes, JR Priest - Pediatric Radiology, 2019 - Springer
DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been
increasingly recognized in the last 10 years. Diseases in the syndrome result from mutations …

[HTML][HTML] Modeling germline mutations in pineoblastoma uncovers lysosome disruption-based therapy

PED Chung, DMA Gendoo… - Nature …, 2020 - nature.com
Pineoblastoma is a rare pediatric cancer induced by germline mutations in the tumor
suppressors RB1 or DICER1. Presence of leptomeningeal metastases is indicative of poor …