Nelly Sabbaghian
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View article: DICER1 associated cervical embryonal rhabdomyosarcoma in a 59-year-old woman
DICER1 associated cervical embryonal rhabdomyosarcoma in a 59-year-old woman Open
•We report a case of DICER1-associated ERMS in a 59-year-old woman.•Detection of pathogenic variants in DICER1 supports a diagnosis of ERMS.•Awareness of adult onset ERMS and molecular testing for DICER1 variants can lead to correct diagno…
View article: DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility
DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility Open
The endoribonuclease DICER1 plays an essential role in the microRNA (miRNA) biogenesis pathway, cleaving precursor miRNA (pre-miRNA) stem-loops to generate mature single-stranded miRNAs. Germline pathogenic variants (GPVs) in DICER1 result…
View article: Clinical Outcomes and Complications of Pituitary Blastoma
Clinical Outcomes and Complications of Pituitary Blastoma Open
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 describe genetic alterations, clinical courses, outcomes, and co…
View article: Analysis of the gene coding for the BRCA2-Interacting protein PALB2 in hereditary prostate cancer
Analysis of the gene coding for the BRCA2-Interacting protein PALB2 in hereditary prostate cancer Open
The genetic basis of susceptibility to prostate cancer (PRCA) remains elusive. Mutations in BRCA2 have been associated with increased prostate cancer risk and account for around 2% of young onset (<56 years) prostate cancer cases. PALB2 is…
View article: Intrathyroidal Thymus (Incidentaloma) Mimicking Thyroid Neoplasia in DICER1 Syndrome
Intrathyroidal Thymus (Incidentaloma) Mimicking Thyroid Neoplasia in DICER1 Syndrome Open
Introduction: With the use of ultrasonography for the evaluation of thyroid and nonthyroid neck diseases, the incidental discovery of previously unsuspected thyroid nodules/nonpalpable lesions has increased. Intrathyroidal thymus arises du…
View article: DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis Open
BACKGROUNDDICER1 is the only miRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter (MNG) and rare pediatric-onset lesions. Other susceptibility genes for familial forms of MNG likely exist.ME…
View article: Mesenchymal Hamartoma of the Liver and DICER1 Syndrome
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome Open
Mesenchymal hamartoma of the liver (MHL) is a benign tumor affecting children that is characterized by a primitive myxoid stroma with cystically dilated bile ducts. Alterations involving chromosome 19q13 are a recurrent underlying cause of…
View article: DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma
DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma Open
DICER1 is a driver of pediatric thyroid nodules, and DICER1-mutated PTC may represent a distinct class of low-risk malignancies. Given the prevalence of variants in children, we advocate for inclusion of DICER1 sequencing and gene dosage d…
View article: Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion
Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion Open
Objective Familial multinodular goiter (MNG), with or without ovarian Sertoli-Leydig cell tumor (SLCT), has been linked to DICER1 syndrome. We aimed to search for the presence of a germline DICER1 mutation in a large family with a remarkab…
View article: A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes
A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes Open
Genetic testing was crucial in elucidating this patient's predisposition to the early development of neoplastic and non-neoplastic conditions. Our report also highlights the phenotypic overlap between the Cowden and DICER1 syndromes and il…
View article: Analysis of<i>DICER1</i>in familial and sporadic cases of Transposition of the Great Arteries
Analysis of<i>DICER1</i>in familial and sporadic cases of Transposition of the Great Arteries Open
Background DICER1 plays a major role in development and in generating mature microRNAs that are important in gene expression. We screened for DICER1 mutations in a family with DICER1 syndrome and we discovered a pathogenic mutation in a ch…
View article: Supplementary Material for: A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes
Supplementary Material for: A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes Open
Background: Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features whic…
View article: Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter
Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter Open
This study demonstrates that nodules within MNG occurring in DICER1 syndrome are associated with spatially distributed somatic DICER1 RNase IIIb mutations.