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Case Reports
. 2024 Dec;86(3):930-936.
doi: 10.1007/s12020-024-03997-9. Epub 2024 Sep 1.

From cortisol-producing adrenal adenoma to atrial myxoma, through nivolumab-induced hypophysitis: a complicated case report of Carney Complex

Ludovico Di Gioia  1 , Giovanni Dambrosio  1 , Angelo Cignarelli  1 , Annalisa Natalicchio  1 , Sebastio Perrini  1 , Luigi Laviola  1 , Francesco Giorgino  2 , Gian Pio Sorice  1
Affiliations
Case Reports

From cortisol-producing adrenal adenoma to atrial myxoma, through nivolumab-induced hypophysitis: a complicated case report of Carney Complex

Ludovico Di Gioia et al. Endocrine. 2024 Dec.

Abstract

Purpose: Carney complex (CNC) is a rare, autosomal dominant syndrome, most commonly caused by PRKAR1A gene mutations and characterized by pigmented skin and mucosal changes with multiple endocrine and non-endocrine tumours. This case report highlights the diagnostic challenges associated with CNC in a patient with multiple neoplasms and a complex medical history, including cortisol-producing adrenal adenoma, breast cancer, melanoma, and atrial myxoma.

Methods: We report the case of a 41-year-old woman with a medical history of left adrenalectomy for cortisol producing adenoma (2005) with no sign of adrenal insufficiency at follow-up, right mastectomy for BRCA1/2 negative carcinoma (2013) and left parotid BRAF-V600E wild-type melanoma (2019), treated with nivolumab adjuvant therapy. In August 2019, following the fifth nivolumab administration, the patient developed central hypocortisolism due to iatrogenic hypophysitis, confirmed by brain MRI and properly treated with oral hydrocortisone. Nivolumab was discontinued due to the patient's decision. In October 2020 and April 2021, the patient had ischaemic strokes, requiring systemic thrombolysis. Echocardiographic examination then revealed a left atrial mass, with histological finding of myxoma.

Results: Given the rarity of this neoplasm and the suspicion of a syndromic disorder, a genetic evaluation was conducted, which confirmed a PRKAR1A gene mutation and the diagnosis of Carney complex.

Conclusion: This case illustrates the diagnostic challenges in CNC, especially in patients with multiple tumourous manifestations and a wide spectrum of life-threatening clinical presentations. It underscores the importance of a multidisciplinary approach to diagnose and manage rare diseases, improving patient outcomes through timely genetic testing and coordinated care.

Keywords: Carney Complex; atrial myxoma; hypophysitis; nivolumab.

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Conflict of interest statement

Compliance with ethical standards Conflict of interest The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Medical history. BRCA breast cancer, BP blood pressure, HR heart rate, SpO2 oxygen saturation, ACTH adrenocorticotropic hormone, TSH thyroid-stimulating hormone, FT4 free thyroxine, MRI magnetic resonance imaging
Fig. 2
Fig. 2
Pituitary MRI. August 2019 (adrenal crisis): panel (A, B); January 2020: panel (C, D). MRI magnetic resonance imaging
See this image and copyright information in PMC

References

    1. Carney Complex - NORD (National Organization for Rare Disorders). Accessed September 15, 2022. https://rarediseases.org/rare-diseases/carney-complex/
    1. J.B.A.G. Haanen, F. Carbonnel, C. Robert et al. Management of toxicities from immunotherapy: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 28(Supplement 4)), iv119–iv142 (2017). 10.1093/annonc/mdx225 - PubMed
    1. L. Delasos, C. Bazewicz, A. Sliwinska, N.L. Lia, J. Vredenburgh, New onset diabetes with ketoacidosis following nivolumab immunotherapy: A case report and review of literature. J. Oncol. Pharm. Pr. 27(3), 716–721 (2021). 10.1177/1078155220943949 - PubMed
    1. Vaxzevria (previously COVID-19 Vaccine AstraZeneca) | European Medicines Agency. Accessed July 17, 2024. https://www.ema.europa.eu/en/medicines/human/EPAR/vaxzevria-previously-c...
    1. E. Kassi, A. Angelousi, N. Asonitis et al. Endocrine-related adverse events associated with immune-checkpoint inhibitors in patients with melanoma. Cancer Med 8, 6585–6594 (2019). 10.1002/cam4.2533 - PMC - PubMed

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