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Diagnosis and Treatment > Signs and Symptoms

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Marina Tsoli Department of Pathophysiology, National and Kapodistrian University of Athens, Athens, Greece

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Anna Angelousi Department of Pathophysiology, National and Kapodistrian University of Athens, Athens, Greece

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Dimitra Rontogianni Department of Histopathology, Evagelismos General Hospital, Athens, Greece

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Constantine Stratakis Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Gregory Kaltsas Department of Pathophysiology, National and Kapodistrian University of Athens, Athens, Greece

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Summary

Parathyroid carcinoma is an extremely rare endocrine malignancy that accounts for less than 1% of cases of primary hyperparathyroidism. We report a 44-year-old woman who presented with fatigue and diffuse bone pain. Laboratory findings revealed highly elevated serum calcium and parathyroid hormone (PTH) levels and a 4.5 × 3 × 2.5 cm cystic lesion in the lower pole of the right thyroid lobe that was shown histologically to be a parathyroid carcinoma. Ten years later, the patient developed brain and pulmonary metastases and recurrence of PTH-related hypercalcemia. Treatment of hypercalcemia along with localized radiotherapy and various chemotherapy regimens failed to induce a biochemical or radiological response. In conclusion, parathyroid carcinoma is a rare neoplasia that may develop metastases even after prolonged follow-up, for which there is no evidence-based treatment besides surgery. Different chemotherapeutic schemes did not prove to be of any benefit in our case highlighting the need for registering such patients to better understand tumor biology and develop specific treatment.

Learning points:

  • Metastases can develop many years after parathyroid cancer diagnosis.

  • Surgery is the only curative treatment for parathyroid carcinoma.

  • Chemotherapy and radiotherapy prove to be ineffective in parathyroid cancer treatment.

  • Patient registering is required in order to delineate underlining pathology and offer specific treatment.

Taxonomy:
Clinical Overview, Gland/Organ, Parathyroid, Topic, Endocrine-related cancer, Condition/ Syndrome, Metastatic carcinoma, Parathyroid carcinoma, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, White, Country of Treatment, Greece, Diagnosis and Treatment, Signs and Symptoms, Bone pain, Fatigue, Hypercalcaemia, Hypophosphataemia, Myasthaenia, Polydipsia, Polyuria, Investigation, Alkaline phosphatase, Calcium (serum), CT scan, Histopathology, MRI, Phosphate (serum), PTH, Radionuclide imaging, Sestamibi scan, Ultrasound scan, Intervention, Fluid repletion, Lymphadenectomy, Parathyroidectomy, Radiotherapy, Thyroidectomy, Medication, Bisphosphonates, Calcium carbonate, Capecitabine, Cinacalcet, Fluorouracil, Furosemide, Pamidronate, Temozolomide, Zoledronic acid, Related Disciplines, Oncology, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-17-0106
Volume/Issue:
Volume 2017: Issue 1
Open access
Shintaro Kawai The First Department of Medicine

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Hiroyuki Ariyasu The First Department of Medicine

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Yasushi Furukawa The First Department of Medicine

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Reika Yamamoto The First Department of Medicine

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Shinsuke Uraki The First Department of Medicine

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Ken Takeshima The First Department of Medicine

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Kenji Warigaya Department of Human Pathology, Wakayama Medical University, Wakayama, Japan

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Yuji Nakamoto Department of Diagnostic Imaging and Nuclear Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan

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Takashi Akamizu The First Department of Medicine

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Summary

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by renal phosphate wasting leading to hypophosphatemia due to excessive actions of fibroblast growth factor 23 (FGF23) produced by the tumors. Although the best way of curing TIO is complete resection, it is usually difficult to detect the culprit tumors by general radiological modalities owing to the size and location of the tumors. We report a case of TIO in which the identification of the tumor by conventional imaging studies was difficult. Nonetheless, a diagnosis was made possible by effective use of multiple modalities. We initially suspected that the tumor existed in the right dorsal aspect of the scapula by 68Ga-DOTATOC positron emission tomography/computed tomography (68Ga-DOTATOC-PET/CT) and supported the result by systemic venous sampling (SVS). The tumor could also be visualized by 3T-magnetic resonance imaging (MRI), although it was not detected by 1.5T-MRI, and eventually be resected completely. In cases of TIO, a stepwise approach of 68Ga-DOTATOC-PET/CT, SVS and 3T-MRI can be effective for confirmation of diagnosis.

Learning points:

  • TIO shows impaired bone metabolism due to excessive actions of FGF23 produced by the tumor. The causative tumors are seldom detected by physical examinations and conventional radiological modalities.

  • In TIO cases, in which the localization of the culprit tumors is difficult, 68Ga-DOTATOC-PET/CT should be performed as a screening of localization and thereafter SVS should be conducted to support the result of the somatostatin receptor (SSTR) imaging leading to increased diagnosability.

  • When the culprit tumors cannot be visualized by conventional imaging studies, using high-field MRI at 3T and comparing it to the opposite side are useful after the tumor site was determined.

Taxonomy:
Clinical Overview, Gland/Organ, Bone, Topic, Bone, Hormone, FGF23, Condition/ Syndrome, Hypophosphataemia, Osteomalacia, Paraneoplastic syndromes, Tumour-induced osteomalacia, Patient Demographics, Age, Adolescent/young adult, Gender, Female, Ethnicity, Asian - Japanese, Country of Treatment, Japan, Diagnosis and Treatment, Signs and Symptoms, Bone pain, Hypophosphataemia, Osteomalacia, Renal phosphate wasting (isolated), Investigation, 25-hydroxyvitamin-D3, Alkaline phosphatase, Alkaline phosphatase (bone-specific), Bone mineral density, Bone scintigraphy, CT scan, FGF23, Histopathology, Immunohistochemistry, MRI, PET scan, Phosphate (serum), PTH, Intervention, Resection of tumour, Medication, Alphacalcidol, Phosphate supplements, Vitamin D, Publication Details, Case Report Type, Novel diagnostic procedure
DOI:
https://doi.org/10.1530/EDM-17-0005
Volume/Issue:
Volume 2017: Issue 1
Open access