Publications by authors named "L D Stanescu"
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours that originate from chromaffin cells and occur in the adrenal medulla and in the sympathetic or parasympathetic ganglia. Nearly 70% of PPGLs result from germline or somatic mutations in a single driver gene. The aim of this study was to characterize the genetic background and clinical characteristics related to genetic profile of patients with PPGLs from Romania.
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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
- - 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.
Collision tumors of the thyroid. A special clinical and pathological entity.
Arch Clin Cases
December 2021
Thyroid collision tumors are rare entities that designate two histologically and morphologically distinct tumors that occur simultaneously or as metastases from other organs within the thyroid. Medullary and papillary carcinoma co-occurrence is the most frequent. Several theories tried to explain the pathogenic mechanisms underlining collision tumors, including the theory which assumes that one tumor predisposes the other, stem cell theory, and random effect theory, but their combination better explains the origin of these tumors.
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