Publications by authors named "A M Ghemigian"
Pathogenesis and Management Strategies in Radioiodine-Refractory Differentiated Thyroid Cancer: From Molecular Mechanisms Toward Therapeutic Approaches: A Comprehensive Review.
J Clin Med
November 2024
Thyroid cancer (TC) remains the most common cancer in endocrinology. Differentiated thyroid cancer (DTC), the most common type of TC, generally has a favorable outlook with conventional treatment, which typically includes surgery along with radioiodine (RAI) therapy and thyroid-stimulating hormone (TSH) suppression through thyroid hormone therapy. However, a small subset of patients (less than 5%) develop resistance to RAI.
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- This review focuses on the relationship between pathogenic variants related to medullary thyroid cancer (MTC) and multiple endocrine neoplasia type 2 (MEN2), especially considering their connection to cutaneous lichen amyloidosis (CLA).
- It highlights that most MEN2A patients with CLA have a specific pathogenic variant at codon 634, yet the connection between CLA and MTC remains poorly understood despite being recognized for over thirty years.
- The findings indicate that CLA usually appears early in life, often before MTC is diagnosed, and the relationship between mutations and CLA presentation can vary even within the same family.
Article Synopsis
- Non-functioning adrenal incidentalomas (NFAIs) are associated with a higher risk of glucose profile issues, especially type 2 diabetes mellitus (T2DM), though clear links to Cushing's syndrome aren't fully established.
- A comprehensive literature review analyzed 37 studies involving over 17,000 individuals, finding T2DM prevalence in NFAIs with mild autonomous cortisol secretion (MACS) ranged from 12% to 44%, with some studies showing rates as high as 45.2%.
- Comparisons between NFAIs and non-tumor controls indicated increased T2DM rates in NFAIs, and while some studies examined Cushing's syndrome, results regarding glucose profile anomalies were inconsistent.
Our aim is to update the topic of adrenal tumours (ATs) in congenital adrenal hyperplasia (CAH) based on a multidisciplinary, clinical perspective via an endocrine approach. This narrative review is based on a PubMed search of full-length, English articles between January 2014 and July 2023. We included 52 original papers: 9 studies, 8 case series, and 35 single case reports.
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- - A 44-year-old woman diagnosed with Paget's disease of the bone (PDB) also tested positive for Lynch syndrome (LS), with a family history of both conditions prompting genetic screening.
- - The diagnosis involved treatment with zoledronate and denosumab after multiple relapses; genetic testing revealed pathogenic variants linked to PDB and LS in the patient and her asymptomatic daughter.
- - The case highlights potential increased cancer risks for the patient and her daughter, emphasizing the need for ongoing monitoring due to the unique combination of genetic mutations.