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Case Report: Abdominal Lymph Node Metastases of Parathyroid Carcinoma: Diagnostic Workup, Molecular Diagnosis, and Clinical Management

Parathyroid carcinoma (PC) is an orphan malignancy accounting for only ~1% of all cases with primary hyperparathyroidism. The localization of recurrent PC is of critical importance and can be exceedingly difficult to diagnose and sometimes futile when common sites of recurrence in the neck and chest...

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Autores principales: Lenschow, Christina, Fuss, Carmina Teresa, Kircher, Stefan, Buck, Andreas, Kickuth, Ralph, Reibetanz, Joachim, Wiegering, Armin, Stenzinger, Albrecht, Hübschmann, Daniel, Germer, Christoph Thomas, Fassnacht, Martin, Fröhling, Stefan, Schlegel, Nicolas, Kroiss, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8021949/
https://www.ncbi.nlm.nih.gov/pubmed/33833736
http://dx.doi.org/10.3389/fendo.2021.643328
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author Lenschow, Christina
Fuss, Carmina Teresa
Kircher, Stefan
Buck, Andreas
Kickuth, Ralph
Reibetanz, Joachim
Wiegering, Armin
Stenzinger, Albrecht
Hübschmann, Daniel
Germer, Christoph Thomas
Fassnacht, Martin
Fröhling, Stefan
Schlegel, Nicolas
Kroiss, Matthias
author_facet Lenschow, Christina
Fuss, Carmina Teresa
Kircher, Stefan
Buck, Andreas
Kickuth, Ralph
Reibetanz, Joachim
Wiegering, Armin
Stenzinger, Albrecht
Hübschmann, Daniel
Germer, Christoph Thomas
Fassnacht, Martin
Fröhling, Stefan
Schlegel, Nicolas
Kroiss, Matthias
author_sort Lenschow, Christina
collection PubMed
description Parathyroid carcinoma (PC) is an orphan malignancy accounting for only ~1% of all cases with primary hyperparathyroidism. The localization of recurrent PC is of critical importance and can be exceedingly difficult to diagnose and sometimes futile when common sites of recurrence in the neck and chest cannot be confirmed. Here, we present the diagnostic workup, molecular analysis and multimodal therapy of a 46-year old woman with the extraordinary manifestation of abdominal lymph node metastases 12 years after primary diagnosis of PC. The patient was referred to our endocrine tumor center in 2016 with the aim to localize the tumor causative of symptomatic biochemical recurrence. In view of the extensive previous workup we decided to perform [18F]FDG-PET-CT. A pathological lymph node in the liver hilus showed slightly increased FDG-uptake and hence was suspected as site of recurrence. Selective venous sampling confirmed increased parathyroid hormone concentration in liver veins. Abdominal lymph node metastasis was resected and histopathological examination confirmed PC. Within four months, the patient experienced biochemical recurrence and based on high tumor mutational burden detected in the surgical specimen by whole exome sequencing the patient received immunotherapy with pembrolizumab that led to a biochemical response. Subsequent to disease progression repeated abdominal lymph node resection was performed in 10/2018, 01/2019 and in 01/2020. Up to now (12/2020) the patient is biochemically free of disease. In conclusion, a multimodal diagnostic approach and therapy in an interdisciplinary setting is needed for patients with rare endocrine tumors. Molecular analyses may inform additional treatment options including checkpoint inhibitors such as pembrolizumab.
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spelling pubmed-80219492021-04-07 Case Report: Abdominal Lymph Node Metastases of Parathyroid Carcinoma: Diagnostic Workup, Molecular Diagnosis, and Clinical Management Lenschow, Christina Fuss, Carmina Teresa Kircher, Stefan Buck, Andreas Kickuth, Ralph Reibetanz, Joachim Wiegering, Armin Stenzinger, Albrecht Hübschmann, Daniel Germer, Christoph Thomas Fassnacht, Martin Fröhling, Stefan Schlegel, Nicolas Kroiss, Matthias Front Endocrinol (Lausanne) Endocrinology Parathyroid carcinoma (PC) is an orphan malignancy accounting for only ~1% of all cases with primary hyperparathyroidism. The localization of recurrent PC is of critical importance and can be exceedingly difficult to diagnose and sometimes futile when common sites of recurrence in the neck and chest cannot be confirmed. Here, we present the diagnostic workup, molecular analysis and multimodal therapy of a 46-year old woman with the extraordinary manifestation of abdominal lymph node metastases 12 years after primary diagnosis of PC. The patient was referred to our endocrine tumor center in 2016 with the aim to localize the tumor causative of symptomatic biochemical recurrence. In view of the extensive previous workup we decided to perform [18F]FDG-PET-CT. A pathological lymph node in the liver hilus showed slightly increased FDG-uptake and hence was suspected as site of recurrence. Selective venous sampling confirmed increased parathyroid hormone concentration in liver veins. Abdominal lymph node metastasis was resected and histopathological examination confirmed PC. Within four months, the patient experienced biochemical recurrence and based on high tumor mutational burden detected in the surgical specimen by whole exome sequencing the patient received immunotherapy with pembrolizumab that led to a biochemical response. Subsequent to disease progression repeated abdominal lymph node resection was performed in 10/2018, 01/2019 and in 01/2020. Up to now (12/2020) the patient is biochemically free of disease. In conclusion, a multimodal diagnostic approach and therapy in an interdisciplinary setting is needed for patients with rare endocrine tumors. Molecular analyses may inform additional treatment options including checkpoint inhibitors such as pembrolizumab. Frontiers Media S.A. 2021-03-23 /pmc/articles/PMC8021949/ /pubmed/33833736 http://dx.doi.org/10.3389/fendo.2021.643328 Text en Copyright © 2021 Lenschow, Fuss, Kircher, Buck, Kickuth, Reibetanz, Wiegering, Stenzinger, Hübschmann, Germer, Fassnacht, Fröhling, Schlegel and Kroiss http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Lenschow, Christina
Fuss, Carmina Teresa
Kircher, Stefan
Buck, Andreas
Kickuth, Ralph
Reibetanz, Joachim
Wiegering, Armin
Stenzinger, Albrecht
Hübschmann, Daniel
Germer, Christoph Thomas
Fassnacht, Martin
Fröhling, Stefan
Schlegel, Nicolas
Kroiss, Matthias
Case Report: Abdominal Lymph Node Metastases of Parathyroid Carcinoma: Diagnostic Workup, Molecular Diagnosis, and Clinical Management
title Case Report: Abdominal Lymph Node Metastases of Parathyroid Carcinoma: Diagnostic Workup, Molecular Diagnosis, and Clinical Management
title_full Case Report: Abdominal Lymph Node Metastases of Parathyroid Carcinoma: Diagnostic Workup, Molecular Diagnosis, and Clinical Management
title_fullStr Case Report: Abdominal Lymph Node Metastases of Parathyroid Carcinoma: Diagnostic Workup, Molecular Diagnosis, and Clinical Management
title_full_unstemmed Case Report: Abdominal Lymph Node Metastases of Parathyroid Carcinoma: Diagnostic Workup, Molecular Diagnosis, and Clinical Management
title_short Case Report: Abdominal Lymph Node Metastases of Parathyroid Carcinoma: Diagnostic Workup, Molecular Diagnosis, and Clinical Management
title_sort case report: abdominal lymph node metastases of parathyroid carcinoma: diagnostic workup, molecular diagnosis, and clinical management
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8021949/
https://www.ncbi.nlm.nih.gov/pubmed/33833736
http://dx.doi.org/10.3389/fendo.2021.643328
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