Nonfunctional Metastatic Parathyroid Carcinoma in the Setting of Multiple Endocrine Neoplasia Type 2A Syndrome

Posada-González, María; Gómez-Ramírez, Joaquín; Luque‐Ramírez, Manuel; Guijarro, Mercedes; Martín-Pérez, Elena; Rodriguez-Sanchez, Ana; García-Sanz, Íñigo; Larrañaga, Eduardo

doi:10.1155/2014/731481

Cited by 9 publications

(4 citation statements)

References 13 publications

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“…Additionally, recent single-center studies [ 14 , 19 ] report a 50/50 distribution. No patient had parathyroid carcinoma, which is also exceptionally rare in MEN 2A [ 52 ].…”

Section: Discussionmentioning

confidence: 99%

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study

Holm

Vestergaard

Poulsen

et al. 2023

Cancers

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Studies of primary hyperparathyroidism (PHPT) in multiple endocrine neoplasia type 2A (MEN 2A) shows divergence in frequency, disease definition, reporting of clinical characteristics and traces of selection bias. This is a nationwide population-based retrospective study of PHPT in MEN 2A, suggesting a representative frequency, with complete reporting and a strict PHPT definition. The Danish MEN 2A cohort 1930–2021 was used. Of 204 MEN 2A cases, 16 had PHPT, resulting in a frequency of 8% (CI, 5–12). Age-related penetrance at 50 years was 8% (CI, 4–15). PHPT was seen in the American Thyroid Association moderate (ATA-MOD) and high (ATA-H) risk groups in 62% and 38% of carriers, respectively. Median age at PHPT diagnosis was 45 years (range, 21–79). A total of 75% were asymptomatic and 25% were symptomatic. Thirteen underwent parathyroid surgery, resulting in a cure of 69%, persistence in 8% and recurrence in 23%. In this first study with a clear PHPT definition and no selection bias, we found a lower frequency of PHPT and age-related penetrance, but a higher age at PHPT diagnosis than often cited. This might be affected by the Danish RET p.Cys611Tyr founder effect. Our study corroborates that PHPT in MEN 2A is often mild, asymptomatic and is associated with both ATA-MOD and ATA-H variants. Likelihood of cure is high, but recurrence is not infrequent and can occur decades after surgery.

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“…Additionally, recent single-center studies [ 14 , 19 ] report a 50/50 distribution. No patient had parathyroid carcinoma, which is also exceptionally rare in MEN 2A [ 52 ].…”

Section: Discussionmentioning

confidence: 99%

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study

Holm

Vestergaard

Poulsen

et al. 2023

Cancers

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“…Currently, only two cases of metastatic PCs have been reported in MEN2A, one associated with the p.Cys634Tyr mutation [19] and one with the p.Cys618Arg rare missense variant in exon 10 of the RET gene [20].…”

Section: Multiple Endocrine Neoplasia Type 2a (Men2a)mentioning

confidence: 99%

Parathyroid Tumors: Molecular Signatures

Marini

Giusti

Iantomasi

et al. 2021

IJMS

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Parathyroid tumors are rare endocrine neoplasms affecting 0.1–0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases), intermediate atypical parathyroid adenomas (aPAs; 1.2–1.3% of cases) and malignant metastatic parathyroid carcinomas (PCs; less than 1% of cases). These tumors are characterized by a variable spectrum of clinical phenotypes and an elevated cellular, histological and molecular heterogeneity that make it difficult to pre-operatively distinguish PAs, aPAs and PCs. Thorough knowledge of genetic, epigenetic, and molecular signatures, which characterize different parathyroid tumor subtypes and drive different tumorigeneses, is a key step to identify potential diagnostic biomarkers able to distinguish among different parathyroid neoplastic types, as well as provide novel therapeutic targets and strategies for these rare neoplasms, which are still a clinical and therapeutic challenge. Here, we review the current knowledge on gene mutations and epigenetic changes that have been associated with the development of different clinical types of parathyroid tumors, both in familial and sporadic forms of these endocrine neoplasms.

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“…It mainly develops as part of the hyperparathyroidism-jaw tumor syndrome (HPT-JT), in which the incidence of cancer is as high as 15–37.5% [ 29 , 30 , 31 ]. Isolated clinical cases of parathyroid cancer have been described in patients with MEN-2A [ 32 , 33 , 34 ] and familial isolated primary hyperparathyroidism (FIHP) [ 35 , 36 ]. Parathyroid cancer in patients with MEN1 syndrome are extremely rare (0.28%) [ 37 ]; herewith, thyroid nodules are observed in more than 25% of MEN-1 patients.…”

Section: Discussionmentioning

confidence: 99%

Multiple Metastases of Parathyroid and Papillary Thyroid Carcinoma in a Female Patient Treated with Long-Term Hemodialysis

Krupinova

Kim

Eremkina

et al. 2023

JPM

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Parathyroid cancer is a rare, clinically aggressive malignancy with a prevalence of approximately 0.005% relative to all carcinoma cases and 1–5% among patients with primary hyperparathyroidism. Prognosis largely depends on the extent of the primary surgery. Non-radical surgical treatment increases the risk of local and distant metastases of the parathyroid cancer associated with limited treatment options. The combination of thyroid and parathyroid disorders has been described rather well for the general population; however, cases of parathyroid and thyroid carcinoma in the same patient are extremely rare (1 case per 3000 patients with parathyroid disorders). We present a rare clinical case of combination of parathyroid and thyroid cancers with metastases of both tumors to the neck lymph nodes in a woman with a mutation in the MEN1 gene (NM_130799.2): c.658T > C p.Trp220Arg (W220R), who has been exposed to radiation for 20 years before diagnosis of thyroid cancer and received renal replacement therapy with long-term hemodialysis before the diagnosis of parathyroid cancer. The patient underwent several surgeries because of metastases of the parathyroid cancer in the neck lymph nodes. Surgeons used intraoperative navigation methods (single-channel gamma detection probe, Gamma Probe 2, and fluorescence angiography with indocyanine green (ICG)) to clarify the volume of surgery. Currently, the patient is still in laboratory remission, despite the structural recurrence of tumors.

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Nonfunctional Metastatic Parathyroid Carcinoma in the Setting of Multiple Endocrine Neoplasia Type 2A Syndrome

Cited by 9 publications

References 13 publications

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study

Parathyroid Tumors: Molecular Signatures

Multiple Metastases of Parathyroid and Papillary Thyroid Carcinoma in a Female Patient Treated with Long-Term Hemodialysis

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