# Double Parathyroid Carcinoma Associated With CDC73 Mutation: A Rare Case

**Authors:** Sandra Baptista, Helena Leandro, Catarina Gama, Dora Lameiras, Ana Alves Rafael, Bernardo Marques, Martinha Chorão, Tiago Saldanha

PMC · DOI: 10.7759/cureus.95382 · Cureus · 2025-10-25

## TL;DR

A rare case of double parathyroid carcinoma with a CDC73 mutation is reported, highlighting diagnostic and treatment challenges in a patient with severe hypercalcemia.

## Contribution

This case report adds to the limited literature on parathyroid carcinoma by documenting a rare double carcinoma with genetic confirmation of a CDC73 mutation.

## Key findings

- The patient had two parathyroid carcinomas, one with thyroid invasion and another atypical neoplasm.
- Genetic testing confirmed a CDC73 mutation, linking it to the patient's parathyroid carcinoma.
- Postoperative hungry bone syndrome required calcium and vitamin D supplementation.

## Abstract

Primary hyperparathyroidism is a relatively common endocrine disorder, but its malignant form is extremely rare and often presents diagnostic and therapeutic challenges. We present an unusual case involving a man in his late 40s who presented with progressive musculoskeletal pain, functional decline, and weight loss. Laboratory tests revealed severe hypercalcemia and markedly elevated parathyroid hormone levels. Imaging identified multiple osteolytic lesions, and biopsy confirmed osteitis fibrosa cystica. Cervical imaging revealed two suspicious parathyroid nodules, raising concern for malignancy. The patient underwent en bloc resection of the left parathyroid and hemithyroidectomy, followed by right inferior parathyroidectomy and left central compartment lymphadenectomy. Histopathological analysis confirmed parathyroid carcinoma with thyroid invasion on the left and an atypical neoplasm on the right, although capsular invasion could not be assessed. Postoperatively, the patient developed hungry bone syndrome, requiring calcium and vitamin D supplementation. Genetic testing revealed a CDC73 mutation, confirming the genetic basis of the disease.

## Linked entities

- **Genes:** CDC73 (cell division cycle 73) [NCBI Gene 79577]
- **Diseases:** primary hyperparathyroidism (MONDO:0010837), parathyroid carcinoma (MONDO:0012004), osteitis fibrosa cystica (MONDO:0005890)

## Full-text entities

- **Genes:** PTH (parathyroid hormone) [NCBI Gene 5741] {aka FIH1, PTH1}, CDC73 (cell division cycle 73) [NCBI Gene 79577] {aka C1orf28, FIHP, HPTJT, HRPT1, HRPT2, HYX}
- **Diseases:** Parathyroid Carcinoma (MESH:D010282), thyroid invasion (MESH:D013966), hypercalcemia (MESH:D006934), osteolytic lesions (MESH:D030981), Primary hyperparathyroidism (MESH:D049950), musculoskeletal pain (MESH:D059352), hungry bone syndrome (MESH:D001847), malignancy (MESH:D009369), weight loss (MESH:D015431), osteitis fibrosa cystica (MESH:D010002), parathyroid nodules (MESH:D010279), endocrine disorder (MESH:D004700)
- **Chemicals:** calcium (MESH:D002118), vitamin D (MESH:D014807)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12642308/full.md

## References

17 references — full list in the complete paper: https://tomesphere.com/paper/PMC12642308/full.md

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Source: https://tomesphere.com/paper/PMC12642308