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Diagnosis and Treatment > Medication

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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
Christopher Muir Departments of Endocrinology

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Anthony Dodds Haematology and Bone Marrow Transplantation, St Vincent’s Hospital, Sydney, Australia

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Katherine Samaras Departments of Endocrinology
Garvan Institute of Medical Research, Sydney, Australia

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Summary

Diamond–Blackfan anaemia (DBA) is a rare cause of bone marrow failure. The incidence of malignancy and endocrine complications are increased in DBA, relative to other inherited bone marrow failure syndromes. We describe an adult woman with DBA who developed osteoporosis and avascular necrosis (AVN) of both distal femora. Such endocrine complications are not uncommon in DBA, but under-appreciated, especially in adulthood. Further, rectal adenocarcinoma was diagnosed at age 32 years, requiring hemi-colectomy and adjuvant chemotherapy. Elevated cancer risk may warrant disease-specific screening guidelines. Genetic predictors of extra-haematopoetic complications in DBA are yet to be established.

Learning points:

  • Endocrine complications are common in DBA.

  • Clinical vigilance is required in managing bone health of DBA patients treated with glucocorticoids.

  • There is currently no reliable way to predict which patients will develop complications of therapy or premature malignancy related to DBA.

  • Complaints of bone or joint pain should prompt screening with targeted magnetic resonance imaging. Osteoporosis screening should be performed routinely.

Taxonomy:
Clinical Overview, Gland/Organ, Bone, Topic, Bone, Condition/ Syndrome, Adenocarcinoma, Osteoporosis, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, White, Country of Treatment, Australia, Diagnosis and Treatment, Signs and Symptoms, Arthralgia, Bone pain, Central obesity, Investigation, Bone mineral density, Haemoglobin, MRI, Radionuclide imaging, Intervention, Resection of tumour, Medication, Alendronate, Bisphosphonates, Calcium, Cholecalciferol, Fluorouracil, Prednisone, Vitamin D, Publication Details, Case Report Type, Insight into disease pathogenesis or mechanism of therapy
DOI:
https://doi.org/10.1530/EDM-16-0141
Volume/Issue:
Volume 2017: Issue 1
Open access