Meshael Alswailem
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View article: Multiple tumours of different lineages likely related to a <i>DNMT3A</i> pathogenic R688H variant
Multiple tumours of different lineages likely related to a <i>DNMT3A</i> pathogenic R688H variant Open
Introduction The relationship between epigenetic modifications that influence gene regulation, such as histone deacetylation, microRNA regulation and DNA methylation, and human diseases has become increasingly recognised. Dysregulation of …
View article: Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation
Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation Open
Introduction So far, only 11 PTH mutations have been described as causes of familial isolated hypoparathyroidism (FIH). In this report, we describe a family with FIH but with significant elevation of functionally inactive PTH due to a PTH …
View article: 6408 Familial Hypoparathyroidism With Elevated Parathyroid Hormone Due To A PTH Mutation Responsive To Teriparatide
6408 Familial Hypoparathyroidism With Elevated Parathyroid Hormone Due To A PTH Mutation Responsive To Teriparatide Open
Disclosure: N. Mukhtar: None. B. Alghamdi: None. M. Alswailem: None. A.S. Alzahrani: None. Introduction: Apart from vitamin D disorders, causes of congenital hypocalcemia (HypoCa) include genetic defects causing familial hypoparathyroidism…
View article: A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia
A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia Open
View article: Germline Variants in Sporadic Pituitary Adenomas
Germline Variants in Sporadic Pituitary Adenomas Open
Context Data on germline genetics of pituitary adenomas (PAs) using whole-exome sequencing (WES) are limited. Objective This study investigated the germline genetic variants in patients with PAs using WES. Methods We studied 134 consecutiv…
View article: An aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germline SDHB pathogenic variant in the absence of paraganglioma or pheochromocytoma
An aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germline SDHB pathogenic variant in the absence of paraganglioma or pheochromocytoma Open
Context Germline succinate dehydrogenase subunit B ( SDHB ) pathogenic variants are characteristic of familial paraganglioma (PGL) syndrome type 4. This syndrome frequently presents with abdominal PGL and has high tendency for locally aggr…
View article: How do BRAFV600E and TERT promoter mutations interact with the ATA and TNM staging systems in thyroid cancer?
How do BRAFV600E and TERT promoter mutations interact with the ATA and TNM staging systems in thyroid cancer? Open
Context The American Thyroid Association risk stratification (ATA) and the American Joint Committee on Cancer Tumor Node Metastases (TNM) predict recurrence and mortality of differentiated thyroid cancer (DTC). BRAF V600E and TERT promoter…
View article: THU683 TERT Promoter Mutations, But Not BRAFV600EMutation, Correlate With The American Thyroid Association And TNM Staging Systems And Predict Outcome Of Differentiated Thyroid Cancer
THU683 TERT Promoter Mutations, But Not BRAFV600EMutation, Correlate With The American Thyroid Association And TNM Staging Systems And Predict Outcome Of Differentiated Thyroid Cancer Open
Disclosure: N. Mukhtar: None. K. Alhamoudi: None. M. Alswailem: None. H. Al-Hindi: None. A.K. Murugan: None. B. Alghamdi: None. A.S. Alzahrani: None. Context: The American Thyroid Association risk stratification (ATA) and the American Join…
View article: THU614 Neurofibromatosis Type 1 Presenting With Pheochromocytoma And Severe Vascular And Hematological Manifestations Due To A Novel NF1 Mutation
THU614 Neurofibromatosis Type 1 Presenting With Pheochromocytoma And Severe Vascular And Hematological Manifestations Due To A Novel NF1 Mutation Open
Disclosure: L.A. Alobaid: None. O. Alsagheir: None. M. Alswailem: None. B. Alghamdi: None. A.S. Alzahrani: None. Neurofibromatosis (NF) type 1 is an autosomal dominant condition caused by germline mutations in NF1, a tumor suppressor gene …
View article: SAT613 A Novel NF1 Mutation As The Underlying Cause Of Dysmorphic Features And Acromegaly In An Atypical Case Of Neurofibromatosis Type 1
SAT613 A Novel NF1 Mutation As The Underlying Cause Of Dysmorphic Features And Acromegaly In An Atypical Case Of Neurofibromatosis Type 1 Open
Disclosure: O. Alsagheir: None. L.A. Alobaid: None. M. Alswailem: None. H. Al-Hindi: None. A.S. Alzahrani: None. Introduction: Neurofibromatosis type 1 is an autosomal dominant disease with an estimated incidence of about 1:2000 cases. It …
View article: SAT631 EPAS1 Mutations In Three Adjacent Nucleotides Resulting In Different Phenotypes
SAT631 EPAS1 Mutations In Three Adjacent Nucleotides Resulting In Different Phenotypes Open
Disclosure: M. Alswailem: None. B. Alghamdi: None. L.A. Alobaid: None. H. Al-Hindi: None. M. Aldawish: None. O. Alsagheir: None. A.S. Alzahrani: None. EPAS1 (HIF2a) mutations have been described in patients (pts) with paragangliomas (PGL) …
View article: SAT604 An Extensively Invasive Giant Prolactinoma Associated With CDH23 Mutation
SAT604 An Extensively Invasive Giant Prolactinoma Associated With CDH23 Mutation Open
Disclosure: B. Alghamdi: None. L.A. Alobaid: None. M. Alswailem: None. E.O. Othman: None. M. Dababo: None. O. Alsagheir: None. A.S. Alzahrani: None. Pituitary adenomas (PA), renamed recently pituitary neuroendocrine neoplasms, are common a…
View article: LBMON174 Germline Molecular Genetics Of Pituitary Adenomas
LBMON174 Germline Molecular Genetics Of Pituitary Adenomas Open
Introduction Pituitary adenomas (PA) are common. Considered to be mostly sporadic tumors for a long time, it has become clear over the last decade that a significant proportion of PA carry germline and/or somatic mutations. This study inve…
View article: Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant
Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant Open
Mutations in the nuclear receptor subfamily 5 group A member 1 ( NR5A1 ) are the underlying cause of 10–20% of 46,XY disorders of sex development (DSDs). We describe a young girl with 46,XY DSD due to a unique novel mutation of the NR5A1 g…
View article: Fumarate Hydratase is a Novel Gene for Familial Non-Medullary Thyroid Cancer
Fumarate Hydratase is a Novel Gene for Familial Non-Medullary Thyroid Cancer Open
Context The majority of cases of epithelial cell-derived thyroid cancer are sporadic. Familial non-medullary thyroid cancer (FNMTC) occurs in about 5% to 9% of cases, either as a part of known syndromes such as Cowden syndrome or in the fo…
View article: Papillary Thyroid Cancer and a <i>TERT</i> Promotor Mutation-positive Paraganglioma in a Patient With a Germline <i>SDHB</i> Mutation
Papillary Thyroid Cancer and a <i>TERT</i> Promotor Mutation-positive Paraganglioma in a Patient With a Germline <i>SDHB</i> Mutation Open
Purpose About 40% of paragangliomas (PGL) are due to germline mutations in one of several susceptibility genes. These genes rarely predispose to other non-PGL tumors. Here, we describe and functionally characterize a germline SDHB mutation…
View article: A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin
A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin Open
Background and Objectives: Sclerostin is an SOST gene product that inhibits osteoblast activity and prevents excessive bone formation by antagonizing the Wnt signaling pathway. Sclerosteosis has been linked to loss of function mutations in…
View article: Controversy on the Management of Patients Carrying RET p.V804M Mutation
Controversy on the Management of Patients Carrying RET p.V804M Mutation Open
Context: RET p.V804M is classified as a moderate-risk mutation for familial medullary thyroid cancer (FMTC). There is a significant controversy on the management of patients carrying this mutation. We describe a family incidentally discove…
View article: A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population
A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population Open
Context Pseudohypoaldosteronism (PHA) is a condition in which serum aldosterone level is normal or elevated but its action is deficient. Objective This study describes the molecular genetics of PHA 1b in the highly consanguineous populatio…
View article: Genetic Alterations in Pediatric Thyroid Cancer Using a Comprehensive Childhood Cancer Gene Panel
Genetic Alterations in Pediatric Thyroid Cancer Using a Comprehensive Childhood Cancer Gene Panel Open
Context Pediatric differentiated thyroid cancer (DTC) differs from adult DTC in its underlying genetics and clinicopathological features. In this report, we studied these aspects in 48 cases of pediatric DTC. Patients and Methods We used t…
View article: MON-533 Diffuse Sclerosing Variant Papillary Thyroid Cancer: Clinical and Histopathological Features, Mutational Profile, Management and Outcome
MON-533 Diffuse Sclerosing Variant Papillary Thyroid Cancer: Clinical and Histopathological Features, Mutational Profile, Management and Outcome Open
Diffuse sclerosing variant (DSV) is a rare subtype of papillary thyroid cancer (PTC). Whether it represents a higher grade subtype than conventional PTC is not quite clear. Furthermore, there are limited data on its long-term outcome and i…
View article: Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma Open
About 30%-40% of patients with pheochromocytoma (PCC) and paraganglioma (PGL) have underlying germline mutations in certain susceptibility genes despite absent family history of these tumors. Here, we present mutational profile of 101 such…
View article: Correction to: Absence of EIF1AX, PPM1D, and CHEK2 mutations reported in Thyroid Cancer Genome Atlas (TCGA) in a large series of thyroid cancer
Correction to: Absence of EIF1AX, PPM1D, and CHEK2 mutations reported in Thyroid Cancer Genome Atlas (TCGA) in a large series of thyroid cancer Open
View article: Familial Paraganglioma Due to a Novel <i>SDHB</i> Mutation: Familial Phenotypic Heterogeneity and a Potentially Novel Manifestation
Familial Paraganglioma Due to a Novel <i>SDHB</i> Mutation: Familial Phenotypic Heterogeneity and a Potentially Novel Manifestation Open
Non-paraganglioma (PGL) tumors are rare manifestations of familial PGL syndromes. Primary hyperparathyroidism has not been described in PGL syndromes. We present a 36-year-old man with a history of right carotid body tumor at 24 years and …
View article: Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population Open
These cases of rare subtypes of CAH illustrate the heterogeneous phenotypic and genetic features of these subtypes and add unique novel mutations to the previously known ones.
View article: TERT promoter mutations in thyroid cancer: a report from a Middle Eastern population
TERT promoter mutations in thyroid cancer: a report from a Middle Eastern population Open
Telomerase reverse transcriptase ( TERT ) promoter mutations C228T and C250T have recently been described in follicular cell-derived thyroid cancer (TC) in patients from North America and Europe. In this study, we explored whether these fi…