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Endocrine Oct 2021
Topics: Adenoma; Choristoma; Humans; Parathyroid Glands; Parathyroid Neoplasms
PubMed: 33765297
DOI: 10.1007/s12020-021-02699-w -
Endocrine Pathology Mar 2021The majority of parathyroid disease encountered in routine practice is due to single parathyroid adenoma, of which the majority arise as sporadic tumors. This is usually... (Review)
Review
The majority of parathyroid disease encountered in routine practice is due to single parathyroid adenoma, of which the majority arise as sporadic tumors. This is usually a straightforward diagnosis in endocrine pathology when in the appropriate clinical setting, although subsets of cases will exhibit atypical histological features that may warrant additional immunohistochemical and genetic analyses to estimate the malignant potential. Parathyroid carcinomas on the other hand, are bona fide malignant tumors characterized by their unequivocal invasion demonstrated through routine histology or metastasis. The ultimate endpoint for any molecular marker discovered through laboratory investigations is to be introduced in clinical routine practice and guide the surgical pathologist in terms of diagnostics and prognostication. For parathyroid tumors, the two main diagnostic challenges include the distinction between parathyroid adenoma and parathyroid carcinoma, as well as the pinpointing of hereditable disease for familial screening purposes. While numerous markers on genetic, epigenetic, and protein levels have been proposed as discriminative in these aspects, this review aims to condense the scientific coverage of these enigmatic topics and to propose a focused surgical pathology approach to the subject.
Topics: Animals; Epigenesis, Genetic; Epigenomics; Genomics; Humans; Parathyroid Neoplasms; Pathology, Surgical
PubMed: 33269427
DOI: 10.1007/s12022-020-09656-9 -
European Annals of Otorhinolaryngology,... Nov 2015Fine-needle aspiration cytology (FNAC) of thyroid nodules commonly reveals the presence of oncocytic cells (or Hürthle cells) in a follicular neoplasm. Histological...
INTRODUCTION
Fine-needle aspiration cytology (FNAC) of thyroid nodules commonly reveals the presence of oncocytic cells (or Hürthle cells) in a follicular neoplasm. Histological examination is necessary to determine the benign or malignant nature of the tumour. However, oncocytic cells are also normally present in the parathyroid glands.
CASE REPORT
A thyroid nodule was discovered on thyroid ultrasound in a woman with a history of left partial thyroid lobectomy. Fine-needle aspiration cytology revealed a follicular neoplasm comprising oncocytic cells (Hürthle cells). This woman also presented features of hyperparathyroidism with hypercalcaemia. (123)I/(99m)Tc-sestamibi and (18)F-fluorocholine PET-CT scan revealed increased uptake over the remaining left thyroid lobe. Left lobectomy was completed together with thyroid exploration. Histological examination revealed a parathyroid adenoma in the residual thyroid tissue. Parathyroid hormone levels subsequently returned to normal.
DISCUSSION
Cytomorphological similarities are often observed between parathyroid and Hürthle cell thyroid tumours. The parathyroid rather than thyroid nature of the tumour must be strongly suspected preoperatively in the presence of hyperparathyroidism.
Topics: Adenoma; Female; Humans; Hyperparathyroidism; Middle Aged; Multimodal Imaging; Oxyphil Cells; Parathyroid Neoplasms; Positron-Emission Tomography; Tomography, X-Ray Computed
PubMed: 26364541
DOI: 10.1016/j.anorl.2015.08.033 -
Head & Neck Sep 2019We evaluate our initial experience of transoral vestibular approach parathyroidectomy (TOEPVA) for the treatment of primary hyperparathyroidism. (Observational Study)
Observational Study
BACKGROUND
We evaluate our initial experience of transoral vestibular approach parathyroidectomy (TOEPVA) for the treatment of primary hyperparathyroidism.
METHODS
We conducted a prospective study of patients with single parathyroid adenoma, using TOEPVA to perform the parathyroidectomy. The variables we analyzed were size, volume, and location of the adenoma, bleeding, identification, and preservation of the recurrent laryngeal nerve, injury to the mental nerve, and the effective cure rate, using measures of central tendency.
RESULTS
Our study included 21 women, with an average age of 43 years. The recurrent laryngeal nerve and mental nerve suffered no permanent damage, the average size of the adenoma was 26.6 mm, and a volume of 3.95 mL. We were able to identify the adenoma and cure the hyperparathyroidism in 20 of the patients (95.2%).
CONCLUSIONS
TOEPVA is viable and safe in who wish to avoid the cervical scar resulting for the patient with primary hyperparathyroidism.
Topics: Adenoma; Adult; Female; Humans; Hyperparathyroidism, Primary; Longitudinal Studies; Middle Aged; Natural Orifice Endoscopic Surgery; Parathyroid Neoplasms; Parathyroidectomy; Prospective Studies; Treatment Outcome
PubMed: 31157933
DOI: 10.1002/hed.25828 -
Annals of the Royal College of Surgeons... May 2015Primary hyperparathyroidism is a relatively common problem encountered by any endocrine surgical unit. Ectopic parathyroid adenomas have been known to be a common cause... (Review)
Review
Primary hyperparathyroidism is a relatively common problem encountered by any endocrine surgical unit. Ectopic parathyroid adenomas have been known to be a common cause of persistent hyperparathyroidism after surgery. A common site of the missed ectopic gland will be that in the mediastinum. However, with the increasing improvement in available imaging, it is likely that this can be diagnosed preoperatively. The surgical approach to the mediastinal parathyroid has also changed vastly over the last decade from maximally invasive to minimally invasive with minimal complications. We provide a review on the entity of mediastinal parathyroid adenomas and their surgical implications.
Topics: Adenoma; Humans; Mediastinal Neoplasms; Parathyroid Neoplasms
PubMed: 26263931
DOI: 10.1308/003588415X14181254789088 -
Endocrine-related Cancer Sep 2016The vagus nerve (cranial nerve X) is the main nerve of the parasympathetic division of the autonomic nervous system. Vagal paragangliomas (VPGLs) are a prime example of... (Review)
Review
The vagus nerve (cranial nerve X) is the main nerve of the parasympathetic division of the autonomic nervous system. Vagal paragangliomas (VPGLs) are a prime example of an endocrine tumor associated with the vagus nerve. This rare, neural crest tumor constitutes the second most common site of hereditary head and neck paragangliomas (HNPGLs), most often in relation to mutations in the succinate dehydrogenase complex subunit D (SDHD) gene. The treatment paradigm for VPGL has progressively shifted from surgery to abstention or therapeutic radiation with curative-like outcomes. Parathyroid tissue and parathyroid adenoma can also be found in close association with the vagus nerve in intra or paravagal situations. Vagal parathyroid adenoma can be identified with preoperative imaging or suspected intraoperatively by experienced surgeons. Vagal parathyroid adenomas located in the neck or superior mediastinum can be removed via initial cervicotomy, while those located in the aortopulmonary window require a thoracic approach. This review particularly emphasizes the embryology, molecular genetics, and modern imaging of these tumors.
Topics: Cranial Nerve Neoplasms; Humans; Paraganglioma; Parathyroid Neoplasms; Vagus Nerve; Vagus Nerve Diseases
PubMed: 27406876
DOI: 10.1530/ERC-16-0241 -
BMJ Case Reports Mar 2015Undescended parathyroid adenomas are rare, representing 0.08% of all parathyroid adenomas; however, they make up 7% of the underlying cause of failed cervical...
Undescended parathyroid adenomas are rare, representing 0.08% of all parathyroid adenomas; however, they make up 7% of the underlying cause of failed cervical exploration in patients with persistent primary hyperparathyroidism. A 43-year-old woman with no significant medical or family history presented with fatigue and was diagnosed with primary hyperparathyroidism; however, preoperative imaging including sestamibi scan and ultrasound was unable to identify the hyperfunctioning gland. She underwent a neck exploration and hemithyroidectomy and partial parathyroidectomy with failure of resolution of her disease. Subsequent work up including a CT of the neck demonstrated a 1.9 cm mass adjacent to the left submandibular gland. This was removed with postoperative normalisation of the patient's serum calcium and parathyroid hormone levels.
Topics: Adenoma; Adult; Female; Humans; Hyperparathyroidism; Hyperparathyroidism, Primary; Parathyroid Neoplasms; Parathyroidectomy; Treatment Outcome
PubMed: 25737222
DOI: 10.1136/bcr-2014-208277 -
Endokrynologia Polska 2022Parathyroid carcinoma is a rare condition and accounts for < 1% of cases of sporadic primary hyperparathyroidism. It accounts for 0.005% of all cancers. Often the...
INTRODUCTION
Parathyroid carcinoma is a rare condition and accounts for < 1% of cases of sporadic primary hyperparathyroidism. It accounts for 0.005% of all cancers. Often the differentiation between adenoma and carcinoma is challenging and requires multidisciplinary cooperation. Complete surgical resection is the treatment of choice. We present a retrospective analysis of 29 patients who were surgically treated for parathyroid cancer.
MATERIAL AND METHODS
Between the years 1983 and 2018, 71 (7.0%) patients were treated for suspicion of parathyroid cancer among a group of 1019 operated for primary hyperparathyroidism.
RESULTS
We confirmed the diagnosis of parathyroid cancer in 29 (2.8%) patients, 12 men and 17 women, aged 27 to 77 years, mean 55.1 years. That constituted 43.9% of the 71 patients with initial suspicion of cancer diagnosis. All operated patients were under long-term observation.
CONCLUSIONS
A diagnosis of parathyroid carcinoma should always be considered during surgery in patients diagnosed with primary hyperparathyroidism, especially in patients with severe hypercalcaemia, significantly enlarged neck circumference, and concomitant diseases of the renal and skeletal system. Parathyroid carcinoma is rarely definitively diagnosed preoperatively or even intraoperatively, and the final diagnosis can be made exclusively after operation. The optimal treatment is a complete surgical resection at a reference centre - specialized in parathyroid surgery - to improve outcomes and provide the best chance of recovery.
Topics: Adenoma; Adult; Aged; Female; Humans; Hyperparathyroidism; Male; Middle Aged; Parathyroid Neoplasms; Parathyroidectomy; Retrospective Studies
PubMed: 35156702
DOI: 10.5603/EP.a2022.0003 -
Journal of Internal Medicine Dec 2016Primary hyperparathyroidism (pHPT) is a common endocrine disease characterized by excessive secretion of parathyroid hormone and an increased level of serum calcium.... (Review)
Review
Primary hyperparathyroidism (pHPT) is a common endocrine disease characterized by excessive secretion of parathyroid hormone and an increased level of serum calcium. Overall, 80-85% of pHPT cases are due to a benign, single parathyroid adenoma (PA), and 15% to multiglandular disease (multiple adenomas/hyperplasia). Parathyroid carcinoma (PC) is rare, accounting for <0.5-1% of pHPT cases. Secondary hyperparathyroidism (sHPT) is a complication of renal failure, with the development of parathyroid tumours and hypercalcaemia. Recurrent mutations in the MEN1 gene have been confirmed by the whole-exome sequencing in 35% of PAs, suggesting that non-protein-coding genes, regulatory elements or epigenetic derangements may also have roles in the majority of PAs. DNA translocations with cyclin D1 overexpression occur in PAs (8%). In PCs, mutations in CDC73/HRPT2 are common. Activation of the WNT/β-catenin signalling pathway (accumulation of nonphosphorylated β-catenin) by an aberrantly truncated LRP5 receptor has been seen for the majority of investigated PAs and sHPT tumours, and possibly by APC inactivation through promoter methylation in PCs. Promoter methylation of several other genes and repressive histone H3 lysine 27 trimethylation by EZH2 of the HIC1 gene may also contribute to parathyroid tumorigenesis. It is possible that a common pathway exists for parathyroid tumour development. CCND1 (cyclin D1) and EZH2 overexpression, accumulation of nonphosphorylated β-catenin and repression of HIC1 have all been observed to occur in PAs, PCs and sHPT tumours. In addition, hypermethylation has been observed for the same genes in PAs and PCs (e.g. SFRP1, CDKN2A and WT1). Whether β-catenin represents a 'hub' in parathyroid tumour development will be discussed.
Topics: Epigenesis, Genetic; Humans; Hyperparathyroidism, Primary; Jumonji Domain-Containing Histone Demethylases; MicroRNAs; Mutation; Parathyroid Neoplasms; Wnt Signaling Pathway
PubMed: 27071708
DOI: 10.1111/joim.12458 -
International Journal of Molecular... Jun 2022Immunohistochemistry remains an indispensable tool in diagnostic surgical pathology. In parathyroid tumours, it has four main applications: to detect (1) loss of... (Review)
Review
Immunohistochemistry remains an indispensable tool in diagnostic surgical pathology. In parathyroid tumours, it has four main applications: to detect (1) loss of parafibromin; (2) other manifestations of an aberrant immunophenotype hinting towards carcinoma; (3) histogenesis of a neck mass and (4) pathogenetic events, including features of tumour microenvironment and immune landscape. Parafibromin stain is mandatory to identify the new entity of parafibromin-deficient parathyroid neoplasm, defined in the WHO classification (2022). Loss of parafibromin indicates a greater probability of malignant course and should trigger the search for inherited or somatic mutations. Aberrant immunophenotype is characterised by a set of markers that are lost (parafibromin), down-regulated (e.g., APC protein, p27 protein, calcium-sensing receptor) or up-regulated (e.g., proliferation activity by Ki-67 exceeding 5%) in parathyroid carcinoma compared to benign parathyroid disease. Aberrant immunophenotype is not the final proof of malignancy but should prompt the search for the definitive criteria for carcinoma. Histogenetic studies can be necessary for differential diagnosis between thyroid vs. parathyroid origin of cervical or intrathyroidal mass; detection of parathyroid hormone (PTH), chromogranin A, TTF-1, calcitonin or CD56 can be helpful. Finally, immunohistochemistry is useful in pathogenetic studies due to its ability to highlight both the presence and the tissue location of certain proteins. The main markers and challenges (technological variations, heterogeneity) are discussed here in the light of the current WHO classification (2022) of parathyroid tumours.
Topics: Adenoma; Carcinoma; Humans; Immunohistochemistry; Parathyroid Neoplasms; Tumor Microenvironment; Tumor Suppressor Proteins
PubMed: 35805976
DOI: 10.3390/ijms23136981