26. Neue diagnostische, pathophysiologische und operativ-technische Probleme der Chirurgie der Epithelkörperchen

Bay, V.; Kuhlencordt, F.; Schneider, C.; Seemann, Natashia M.; Zukschwerdt, L

doi:10.1007/bf02659257

Cited by 3 publications

(1 citation statement)

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“…THPT is a condition characterized by the persistent release of PTH and loss of feedback regulation to blood calcium levels, resulting in hypercalcemia and elevated PTH levels, originally described in 1970s ( 20 , 21 ). This condition typically arises when treatment for secondary hyperparathyroidism (SHPT) is inadequate, leading to the formation of abnormal parathyroid structures that are unresponsive to medical interventions.…”

Section: Discussionmentioning

confidence: 99%

Specific genetic aberrations of parathyroid in Chinese patients with tertiary hyperparathyroidism using whole-exome sequencing

Li,

Sheng,

Zeng

et al. 2023

Front. Endocrinol.

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BackgroundTertiary hyperparathyroidism (THPT) is a peculiar subtype of hyperparathyroidism that usually develops from chronic kidney disease (CKD) and persists even after kidney transplantation. Unlike its precursor, secondary hyperparathyroidism (SHPT), THPT is characterized by uncontrolled high levels of calcium in the blood, which suggests the monoclonal or oligoclonal proliferation of parathyroid cells. However, the molecular abnormalities leading to THPT have not yet been fully understood.MethodsIn this study, we analyzed DNA samples from hyperplastic parathyroid and corresponding blood cells of 11 patients with THPT using whole-exome sequencing (WES). We identified somatic single nucleotide variants (SNV) and insertions or deletions variants (INDEL) and performed driver mutation analysis, KEGG pathway, and GO functional enrichment analysis. To confirm the impact of selected driver mutated genes, we also tested their expression level in these samples using qRT-PCR.ResultsFollowing quality control and mutation filtering, we identified 17,401 mutations, comprising 6690 missense variants, 3078 frameshift variants, 2005 stop-gained variants, and 1630 synonymous variants. Copy number variants (CNV) analysis showed that chromosome 22 copy number deletion was frequently observed in 6 samples. Driver mutation analysis identified 179 statistically significant mutated genes, including recurrent missense mutations on TBX20, ATAD5, ZNF669, and NOX3 genes in 3 different patients. KEGG pathway analysis revealed two enriched pathways: non-homologous end-joining and cell cycle, with a sole gene, PRKDC, involved. GO analysis demonstrated significant enrichment of various cellular components and cytobiological processes associated with four genes, including GO items of positive regulation of developmental growth, protein ubiquitination, and positive regulation of the apoptotic process. Compared to blood samples, THPT samples exhibited lower expression levels of PRKDC, TBX20, ATAD5, and NOX3 genes. THPT samples with exon mutations had relatively lower expression levels of PRKDC, TBX20, and NOX3 genes compared to those without mutations, although the difference was not statistically significant.ConclusionThis study provides a comprehensive landscape of the genetic characteristics of hyperplastic parathyroids in THPT, highlighting the involvement of multiple genes and pathways in the development and progression of this disease. The dominant mutations identified in our study depicted new insights into the pathogenesis and molecular characteristics of THPT.

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Section: Discussionmentioning

confidence: 99%

Specific genetic aberrations of parathyroid in Chinese patients with tertiary hyperparathyroidism using whole-exome sequencing

Li,

Sheng,

Zeng

et al. 2023

Front. Endocrinol.

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Spezielle und funktionelle Pathomorphologie der Epithelk�rperchen in einem unausgew�hlten Obduktionsgut (589 Sektionen)

Thiele

Ries

Georgii

1975

Virchows Arch. A Path. Anat. and Histol.

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1637 parathyroid gland dissections were performed on 589 unselected autopsy preparations in order to study both pathomorphology and functional aspects in an unselected group of patients. In no case had primary or tertiary hyperparathyroidism been suspected clinically; but in about 10 patients on chronic hemodialysis, a secondary hyperplasia of the glands was known. In about 33% of the cases pathological changes were observed: 3 chief cell adenomas, 3 adenomas combined with hyperplasia, 12 primary nodular hyperplasias including 6 microadenomas and 145 cases with secondary regulative hyperplasia. Cysts, purulent parathyroiditis, lipomatous pseudohyperplasia, metastases of carcinomas, hemorrhagic infarctions and amyloidosis were also detected in serial sections of the parathyroid glands. The remarkably large group of secondary hyperplasias (about 20%) was divided into 3 categories according to weight and cytology. The first category (118 cases) was characterized by a lack of the normal age-related involution of the parenchyma and prevalence of light (active) chief cells. Statistical evaluation of the other autopsy findings, histomorphology of the bone in particular, led to the conclusion that this group represented a slightly activated gland with possibly reversible hyperplasia, mostly connected with pathological alterations in the kidney and with minimal changes in bone morphology consistent with hyperparathyroidism. The microadenomas displayed different levels of endocrine activity as demonstrated by bone histology in accordance with the cytology of the adenomas (dark or resting chief cells versus active chief cells and waterclear cells). No specific alterations with respect to endocrine function could be attributed to diffuse and nodular hyperplasia of oxyphil (oncocytic) cells except their increase with age and arteriosclerosis, especially in women.

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European endocrine surgery in the 150-year history of Langenbeck’s Archives of Surgery

Dralle

Machens

2010

Langenbecks Arch Surg

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All in all, the 150-year publication record of Langenbeck's Archives of Surgery closely reflects the history of European Endocrine Surgery. Following the path of seminal articles from Billroth, Kocher, and many other surgical luminaries published in the journal more than 100 years ago, Langenbeck's Archives of Surgery today stands out as the principal European journal in the field of endocrine surgery.

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26. Neue diagnostische, pathophysiologische und operativ-technische Probleme der Chirurgie der Epithelkörperchen

Cited by 3 publications

References 5 publications

Specific genetic aberrations of parathyroid in Chinese patients with tertiary hyperparathyroidism using whole-exome sequencing

Specific genetic aberrations of parathyroid in Chinese patients with tertiary hyperparathyroidism using whole-exome sequencing

Spezielle und funktionelle Pathomorphologie der Epithelk�rperchen in einem unausgew�hlten Obduktionsgut (589 Sektionen)

European endocrine surgery in the 150-year history of Langenbeck’s Archives of Surgery

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