Endocrine Perspective of Cutaneous Lichen Amyloidosis: -C634 Pathogenic Variant in Multiple Endocrine Neoplasia Type 2.

Background: Medullary thyroid carcinoma (MTC), the third most frequent histological type of thyroid malignancy, may be found isolated or as part of multiple endocrine neoplasia type 2 (MEN2). One particular subtype of this autosomal dominant-transmitted syndrome includes an association with cutaneous lichen amyloidosis, although, generally, a tide genotype-phenotype correlation is described in patients who carry proto-oncogene pathogenic variants.

Methods: Our objective was to provide an endocrine perspective of a case series diagnosed with -positive familial MTC associated with cutaneous primary lichen amyloidosis amid the confirmation of MEN2.

Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of Gene and Parafibromin-Deficient Tumours.

A total of 1 out of 10 patients with primary hyperparathyroidism (PHP) presents an underlying genetic form, such as multiple endocrine neoplasia types 1, 2A, etc., as well as hyperparathyroidism-jaw tumour syndrome (HJT). We aimed to summarise the recent data, thus raising more awareness regarding HJT, from the clinical perspective of PHP in association with the challenges and pitfalls of genetic testing and parafibromin staining.

Morphology and one immunohistochemical marker are enough for diagnosis of primary thyroid angiosarcoma.

Primary thyroid angiosarcoma is a very rare and extremely aggressive mesenchymal malignant neoplasm showing morphological and immunophenotypic evidence of endothelial cell differentiation. Early diagnosis of this tumor along with radical thyroidectomy followed by postoperative radiotherapy and chemotherapy are essential for adequate management of the patient. Currently available data on diagnosis and treatment options of this neoplasm are limited because it is a rare disease in endocrine organs.