Novel Glial Cells Missing-2 (GCM2) Variants in Parathyroid Disorders
CONCLUSIONS: We provide evidence that 2 novel GCM2 R67C inactivating mutations with inability to bind DNA are causative of hypoparathyroidism. Additionally, we provide evidence that two novel GCM2 variants increased transactivation of the PTH promoter in vitro and are associated with FIHP. Furthermore, our studies suggest that activating GCM2 variants may contribute to facilitating more aggressive parathyroid disease.PMID:35038313 | DOI:10.1530/EJE-21-0433 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - January 17, 2022 Category: Endocrinology Authors: Lucie Canaff Vito Guarnieri Yoojung Kim Betty Y L Wong Alexis Nolin-Lapalme David E C Cole Salvatore Minisola Cristina Eller-Vainicher Filomena Cetani Andrea Repaci Daniela Turchetti Sabrina Corbetta Alfredo Scillitani David Goltzman Source Type: research

Novel Glial Cells Missing-2 (GCM2) Variants in Parathyroid Disorders
CONCLUSIONS: We provide evidence that 2 novel GCM2 R67C inactivating mutations with inability to bind DNA are causative of hypoparathyroidism. Additionally, we provide evidence that two novel GCM2 variants increased transactivation of the PTH promoter in vitro and are associated with FIHP. Furthermore, our studies suggest that activating GCM2 variants may contribute to facilitating more aggressive parathyroid disease.PMID:35038313 | DOI:10.1530/EJE-21-0433 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - January 17, 2022 Category: Endocrinology Authors: Lucie Canaff Vito Guarnieri Yoojung Kim Betty Y L Wong Alexis Nolin-Lapalme David E C Cole Salvatore Minisola Cristina Eller-Vainicher Filomena Cetani Andrea Repaci Daniela Turchetti Sabrina Corbetta Alfredo Scillitani David Goltzman Source Type: research

Clinical Presentation, Treatment, and Outcome of Parathyroid Carcinoma: Results of the NEKAR Retrospective International Multicenter Study
Objective: In this retrospective cohort study, we describe the clinical presentation and workup of parathyroid carcinoma (PC) and determine its clinical prognostic parameters. Primary outcome was recurrence free survival. Summary Background Data: PC is an orphan malignancy for which diagnostic workup and treatment is not established. Methods: Eighty-three patients were diagnosed with PC between 1986 and 2018. Disease-specific and recurrence-free survivals were estimated with the Kaplan-Meier method. Risk factors for recurrence were identified by binary logistic regression with adjustment for age and sex. ...
Source: Annals of Surgery - January 16, 2022 Category: Surgery Tags: ORIGINAL ARTICLES Source Type: research

A Case of Brown Tumor on 68Ga-DOTATATE PET/CT and 18F-FDG PET/CT
A 50-year-old man presented with right chest pain and persistent increased parathyroid hormone after parathyroidectomy for parathyroid carcinoma. 68Ga-DOTATATE PET/CT and 18F-FDG PET/CT were performed consecutively for restaging to determine subsequent treatment strategy. An osteolytic lesion on the right sixth rib showed increased uptake on both 68Ga-DOTATATE and 18F-FDG PET/CT. Subsequent biopsy confirmed it to be a brown tumor. (Source: Clinical Nuclear Medicine)
Source: Clinical Nuclear Medicine - December 16, 2021 Category: Nuclear Medicine Tags: Interesting Images Source Type: research

Case Report and Systematic Review: Sarcomatoid Parathyroid Carcinoma —A Rare, Highly Malignant Subtype
ConclusionSaPC is a very rare pathologic subtype of PC and appears to be much more easily misdiagnosed as a thyroid tumor. Spindle cell areas or transitional zones are highly possible to be pathological features in its sarcomatoid components. Despite many similarities, there are some differences between SaPC and general PC—SaPC does not show the obvious endocrine feature but stronger aggressiveness. Surgical treatment of SaPC does relieve life-threatening symptoms and improve quality of life even with recurrence in the short term. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - December 15, 2021 Category: Endocrinology Source Type: research

18F Choline PET/CT in a patient with HRPT2 mutation: Detecting parathyroid carcinoma recurrence and concomitant breast carcinoma
Nuklearmedizin. 2021 Nov 29. doi: 10.1055/a-1670-9315. Online ahead of print.NO ABSTRACTPMID:34844271 | DOI:10.1055/a-1670-9315 (Source: Nuklearmedizin)
Source: Nuklearmedizin - November 29, 2021 Category: Radiology Authors: Konrad Christof Radzikowski Gundula Rendl Mohsen Beheshti Christian Pirich Source Type: research

18F Choline PET/CT in a patient with HRPT2 mutation: Detecting parathyroid carcinoma recurrence and concomitant breast carcinoma
Nuklearmedizin. 2021 Nov 29. doi: 10.1055/a-1670-9315. Online ahead of print.NO ABSTRACTPMID:34844271 | DOI:10.1055/a-1670-9315 (Source: Nuklearmedizin)
Source: Nuklearmedizin - November 29, 2021 Category: Radiology Authors: Konrad Christof Radzikowski Gundula Rendl Mohsen Beheshti Christian Pirich Source Type: research

Imaging of Treated Thyroid and Parathyroid Disease
The thyroid and parathyroid glands are endocrine structures located in the visceral space of the infrahyoid neck. Imaging plays a critical role in the evaluation of patients with thyroid cancer, both in the pre and posttreatment setting. Disorders of thyroid function, that is, hyperthyroidism and hypothyroidism, are also fairly common, although imaging utilization is less frequent with these conditions. Parathyroid dysfunction results in disordered calcium metabolism. Imaging is frequently applied in the preoperative assessment of these patients undergoing parathyroidectomy; however, routine imaging in the postoperative se...
Source: Neuroimaging Clinics - November 20, 2021 Category: Radiology Authors: Kalen Riley, Yoshimi Anzai Source Type: research

ASO Visual Abstract: Extended En Bloc Reoperation for Recurrent or Persistent Parathyroid Carcinoma-Analysis of 31 Cases in a Single-Institution Experience
Ann Surg Oncol. 2021 Nov 13. doi: 10.1245/s10434-021-11064-0. Online ahead of print.NO ABSTRACTPMID:34775546 | DOI:10.1245/s10434-021-11064-0 (Source: Ann Oncol)
Source: Ann Oncol - November 14, 2021 Category: Cancer & Oncology Authors: Bojun Wei Teng Zhao Hong Shen Mulan Jin Quan Zhou Xing Liu Jiacheng Wang Qian Wang Source Type: research

Parathyroid Carcinoma and Ectopic Secretion of Parathyroid hormone
Endocrinol Metab Clin North Am. 2021 Dec;50(4):683-709. doi: 10.1016/j.ecl.2021.07.001.ABSTRACTThe most common causes of hypercalcemia are primary hyperparathyroidism (PHPT) and malignancy. Parathyroid carcinoma (PC), causing a severe PHPT, is the rarest parathyroid tumor. A diagnosis of PC is challenging because the clinical profile overlaps with that of benign counterpart. Surgery is the mainstay treatment. CDC73 mutations have been detected in up to 80% of sporadic PCs. Ectopic production of parathyroid hormone (PTH) by malignant nonparathyroid tumors is a rare condition accounting for less than 1% of hypercalcemia of m...
Source: The Medical Clinics of North America - November 14, 2021 Category: General Medicine Authors: Filomena Cetani Elena Pardi Claudio Marcocci Source Type: research

ASO Visual Abstract: Extended En Bloc Reoperation for Recurrent or Persistent Parathyroid Carcinoma-Analysis of 31 Cases in a Single-Institution Experience
Ann Surg Oncol. 2021 Nov 13. doi: 10.1245/s10434-021-11064-0. Online ahead of print.NO ABSTRACTPMID:34775546 | DOI:10.1245/s10434-021-11064-0 (Source: Ann Oncol)
Source: Ann Oncol - November 14, 2021 Category: Cancer & Oncology Authors: Bojun Wei Teng Zhao Hong Shen Mulan Jin Quan Zhou Xing Liu Jiacheng Wang Qian Wang Source Type: research

Parathyroid Carcinoma and Ectopic Secretion of Parathyroid hormone
The most common causes of hypercalcemia are primary hyperparathyroidism (PHPT) and malignancy. Parathyroid carcinoma (PC), causing a severe PHPT, is the rarest parathyroid tumor. A diagnosis of PC is challenging because the clinical profile overlaps with that of benign counterpart. Surgery is the mainstay treatment. CDC73 mutations have been detected in up to 80% of sporadic PCs. Ectopic production of parathyroid hormone (PTH) by malignant nonparathyroid tumors is a rare condition accounting for less than 1% of hypercalcemia of malignancy. PTH secretion can be considered an aberration in the tissue specificity of gene expr...
Source: Endocrinology and Metabolism Clinics of North America - November 11, 2021 Category: Endocrinology Authors: Filomena Cetani, Elena Pardi, Claudio Marcocci Source Type: research

A novel long-range deletion spanning CDC73 and upper-stream genes discovered in a kindred of familial primary hyperparathyroidism
ConclusionsWe discovered a novel 130  kb long-range deletion spanningCDC73 in a family of 5 persons, and the existence of the deletion was related to PHPT and PC. Our discovery validated the role ofCDC73 mutation in the occurrence of PHPT and PC, which provided new information to the genetic studies of PC. (Source: Endocrine)
Source: Endocrine - November 2, 2021 Category: Endocrinology Source Type: research

ASO Author Reflections: Extended En Bloc Reoperation: A Potential Curative Operation for Recurrent or Persistent Parathyroid Carcinoma
Ann Surg Oncol. 2021 Oct 28. doi: 10.1245/s10434-021-10975-2. Online ahead of print.NO ABSTRACTPMID:34709492 | DOI:10.1245/s10434-021-10975-2 (Source: Ann Oncol)
Source: Ann Oncol - October 28, 2021 Category: Cancer & Oncology Authors: Bojun Wei Teng Zhao Hong Shen Mulan Jin Quan Zhou Xing Liu Jiacheng Wang Qian Wang Source Type: research

ASO Author Reflections: Extended En Bloc Reoperation: A Potential Curative Operation for Recurrent or Persistent Parathyroid Carcinoma
Ann Surg Oncol. 2021 Oct 28. doi: 10.1245/s10434-021-10975-2. Online ahead of print.NO ABSTRACTPMID:34709492 | DOI:10.1245/s10434-021-10975-2 (Source: Ann Oncol)
Source: Ann Oncol - October 28, 2021 Category: Cancer & Oncology Authors: Bojun Wei Teng Zhao Hong Shen Mulan Jin Quan Zhou Xing Liu Jiacheng Wang Qian Wang Source Type: research