Diseases Predisposing to Adrenocortical Malignancy (Li–Fraumeni Syndrome, Beckwith–Wiedemann Syndrome, and Carney Complex)

Jouinot, Anne; Bertherat, Jérôme

doi:10.1007/978-3-030-25905-1_9

Anne Jouinot^3,4 &
Jérôme Bertherat^3,4

Part of the book series: Experientia Supplementum ((EXS,volume 111))

1805 Accesses
8 Citations

Abstract

Adrenocortical malignancies can occur in the context of several tumor predisposition syndromes.

The Carney complex (CNC) is responsible for the majority of primary pigmented nodular adrenal diseases and is more rarely associated with adrenocortical carcinoma (ACC). Other core manifestations of CNC include cardiac and cutaneous myxomas, lentiginosis, somatotroph pituitary adenomas, Sertoli tumors, melanocytic schwannoma, and thyroid, breast, and bone tumors. CNC is mostly due to germline inactivating mutations of PRKAR1A.

The majority of childhood ACC are related to genetic predisposition. The Beckwith–Wiedemann syndrome (BWS) is an overgrowth and tumor predisposition syndrome due to genetic or epigenetic alterations at the 11p15 locus. Classical tumor spectrum of BWS includes embryonal tumors and childhood ACC. The Li–Fraumeni syndrome (LFS) is a devastating tumor predisposition syndrome, due to germline inactivating mutations of TP53, and characterized by a high, various, and early-onset cancer risk. LFS spectrum includes premenopausal breast cancer, soft-tissue sarcoma, osteosarcoma, central nervous system tumor, and ACC, accounting for 50–80% of pediatric cases. Finally, germline predisposition affects up to 10% of adult ACC patients, mostly in part of LFS and Lynch syndrome.

This chapter focuses on the diagnosis, screening, and management of adrenal tumors in part of these tumor predisposition syndromes.

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Abbreviations

ACC:: Adrenocortical carcinoma
APC:: Adenomatous polyposis coli
BRCA2:: Breast cancer 2
BWS:: Beckwith–Wiedemann Syndrome
cAMP:: Cyclic adenosine monophosphate
CDKN1C:: Cyclin-dependent kinase inhibitor 1C
CNC:: Carney complex
IC:: Imprinting center
IGF2:: Insulin-like growth factor 2
KCNQ1:: Potassium voltage-gated channel subfamily Q member 1
KCNQ1OT1:: KCNQ1 overlapping transcript 1
LFS:: Li–Fraumeni syndrome
MEN1:: Menin 1
MLH1:: MutL Homolog 1
MMR:: Mismatch repair
MRI:: Magnetic resonance imaging
MSH:: MutS protein homolog
MUTYH:: MutY DNA glycosylase
NF1:: Neurofibromin 1
NMD:: Nonsense-mediated mRNA decay
PDE:: Phosphodiesterases
PKA:: Protein kinase A
PMS2:: Postmeiotic segregation increased 2
PPNAD:: Primary pigmented nodular adrenal disease
PRKACA:: Protein kinase cAMP-dependent catalytic subunit alpha
PRKACB:: Protein kinase cAMP-dependent catalytic subunit beta
PRKAR1A:: Protein kinase cAMP-dependent regulatory subunit type 1 alpha
SDH:: Succinate dehydrogenase
TP53:: Tumor protein 53
UPD:: Uniparental disomy

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Endocrinology Department, Cochin Hospital, APHP, Paris, France
Anne Jouinot & Jérôme Bertherat
Institut Cochin, INSERM U1016, CNRS UMR8104, Paris University, Paris, France
Anne Jouinot & Jérôme Bertherat

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2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, MTA-SE Molecular Medicine Research Group, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary
Peter Igaz
Department of Laboratory Medicine, Faculty of Medicine, Semmelweis University, “Lendület” Hereditary Endocrine Tumors Research Group, Hungarian Academy of Sciences and Semmelweis University, Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary
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Jouinot, A., Bertherat, J. (2019). Diseases Predisposing to Adrenocortical Malignancy (Li–Fraumeni Syndrome, Beckwith–Wiedemann Syndrome, and Carney Complex). In: Igaz, P., Patócs, A. (eds) Genetics of Endocrine Diseases and Syndromes. Experientia Supplementum, vol 111. Springer, Cham. https://doi.org/10.1007/978-3-030-25905-1_9

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