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Microsatellite instability driven metastatic parathyroid carcinoma managed with the anti-PD1 immunotherapy, pembrolizumab.

Park, Daniel; Airi, Rany; Sherman, Michael.

BMJ Case Rep ; 13(9)2020 Sep 23.

Article En | MEDLINE | ID: mdl-32967944

The present case report describes a 65-year-old man with Lynch syndrome and hypercalcaemia associated with hyperparathyroidism. Parathyroid surgery confirmed the diagnosis of parathyroid carcinoma. Serum calcium and parathyroid hormone (PTH) concentrations serially increased after initial surgery. Imaging study and subsequent biopsy confirmed lung metastases with mismatch repair deficiency. Pembrolizumab was initiated achieving 60% reduction in tumour burden.

Antibodies, Monoclonal, Humanized/therapeutic use , Colorectal Neoplasms, Hereditary Nonpolyposis/complications , Lung Neoplasms/drug therapy , Microsatellite Instability , Parathyroid Neoplasms/therapy , Aged , Biomarkers, Tumor/genetics , Biopsy , Calcium/blood , Chemotherapy, Adjuvant/methods , Colorectal Neoplasms, Hereditary Nonpolyposis/blood , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/therapy , DNA Mutational Analysis , Humans , Hypercalcemia/diagnosis , Hypercalcemia/genetics , Hypercalcemia/therapy , Hyperparathyroidism/diagnosis , Hyperparathyroidism/genetics , Hyperparathyroidism/therapy , Lung/diagnostic imaging , Lung/pathology , Lung Neoplasms/genetics , Lung Neoplasms/secondary , Male , Parathyroid Glands/diagnostic imaging , Parathyroid Glands/pathology , Parathyroid Glands/surgery , Parathyroid Hormone/blood , Parathyroid Neoplasms/diagnosis , Parathyroid Neoplasms/genetics , Parathyroid Neoplasms/pathology , Parathyroidectomy , Positron Emission Tomography Computed Tomography , Programmed Cell Death 1 Receptor/antagonists & inhibitors , Tomography, Emission-Computed, Single-Photon , Treatment Outcome , Exome Sequencing