Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Nephrology"
DOI: 10.1007/s00467-018-4040-1
Abstract: BackgroundThe DICER1 syndrome is a tumor-predisposition disorder caused by germline pathogenic variation in DICER1 and is associated with cystic nephroma and other renal neoplasms. Dicer1 mouse and rare human DICER1 syndrome case reports describe structural… read more here.
Keywords: dicer1; dicer1 carriers; family controls; dicer1 syndrome ... See more keywords
Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of clinical pathology"
DOI: 10.1093/ajcp/aqy004
Abstract: Objectives Multinodular goiter (MNG) and well-differentiated thyroid carcinoma (WDTC) are emerging phenotypes of DICER1 syndrome. Methods Histologic and molecular findings of botryoid-type embryonal rhabdomyosarcoma (bERMS) and thyroid nodules from a 12-year-old DICER1 mutation carrier (p.Arg1060Ilefs*7)… read more here.
Keywords: dicer1 syndrome; histologic molecular; case; multinodular goiter ... See more keywords
Sertoli-Leydig cell tumor in two siblings with DICER1 syndrome
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DOI: 10.1097/md.0000000000020806
Abstract: Abstract Rationale: DICER1 syndrome is an autosomal-dominant tumor predisposition syndrome associated with numerous cancerous and noncancerous conditions. The most common sex cord-stromal tumor associated with DICER1 syndrome is Sertoli-Leydig cell tumor of the ovary (SLCT),… read more here.
Keywords: leydig cell; dicer1 syndrome; slct; sertoli leydig ... See more keywords
The Value of DICER1 Mutation Analysis in "Subtle" Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix.
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Gynecological Pathology"
DOI: 10.1097/pgp.0000000000000718
Abstract: Embryonal rhabdomyosarcoma of the uterine cervix is a rare neoplasm which is almost invariably associated with pathogenic somatic or germline DICER1 mutations; patients with germline mutations have DICER1 syndrome. We report 2 subtle cervical embryonal… read more here.
Keywords: uterine cervix; dicer1; dicer1 syndrome; embryonal rhabdomyosarcoma ... See more keywords
DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2023.1150418
Abstract: Background Embryonal rhabdomyosarcomas (ERMS) of the uterine cervix and corpus are rare pediatric tumors usually associated with a late age of onset and frequent somatic DICER1 mutation. It may also develop in the context of… read more here.
Keywords: syndrome embryonal; embryonal rhabdomyosarcoma; case; cervix ... See more keywords