Fassnacht M, Assie G, Baudin E, Eisenhofer G, de la Fouchardiere C, Haak HR, et al. Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2020;31:1476–90.

Article  CAS  PubMed  Google Scholar 

Gatta G, Capocaccia R, Botta L, Mallone S, De Angelis R, Ardanaz E, et al. Burden and centralised treatment in Europe of rare tumours: results of RARECAREnet-a population-based study. Lancet Oncol. 2017;18:1022–39.

Article  PubMed  Google Scholar 

Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, et al. The landscape of genomic alterations across childhood cancers. Nature. 2018;555:321–7.

Article  PubMed  Google Scholar 

NCCN Clinical Practice Guidelines in Oncology (Version 2.2022.) Neuroendocrine and adrenal tumors. https://www.nccn.org/professionals/physician_gls/pdf/neuroendocrine.pdf.

Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, et al. Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol. 2015;33:2345–52.

Article  CAS  PubMed  Google Scholar 

Funato M, Tsunematsu Y, Yamazaki F, Tamura C, Kumamoto T, Takagi M, et al. Characteristics of Li-Fraumeni syndrome in Japan; a review study by the special committee of JSHT. Cancer Sci. 2021;112:2821–34.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Domènech M, Grau E, Solanes A, Izquierdo A, Del Valle J, Carrato C, et al. Characteristics of adrenocortical carcinoma associated with Lynch syndrome. J Clin Endocrinol Metab. 2021;106:318–25.

Article  PubMed  Google Scholar 

Gaujoux S, Pinson S, Gimenez-Roqueplo AP, Amar L, Ragazzon B, Launay P, et al. Inactivation of the APC gene is constant in adrenocortical tumors from patients with familial adenomatous polyposis but not frequent in sporadic adrenocortical cancers. Clin Cancer Res. 2010;16:5133–41.

Article  CAS  PubMed  Google Scholar 

Cöktü S, Spix C, Kaiser M, Beygo J, Kleinle S, Bachmann N, et al. Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study. Br J Cancer. 2020;123:619–23.

Article  PubMed  PubMed Central  Google Scholar 

Imai T, Uchino S, Okamoto T, Suzuki S, Kosugi S, Kikumori T, et al. High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients. Eur J Endocrinol. 2013;168:683–7.

Article  CAS  PubMed  Google Scholar 

Rednam SP, Erez A, Druker H, Janeway KA, Kamihara J, Kohlmann WK, et al. Von Hippel-Lindau and hereditary pheochromocytoma/paraganglioma syndromes: clinical features, genetics, and surveillance recommendations in childhood. Clin Cancer Res. 2017;23:e68–75.

Article  CAS  PubMed  Google Scholar 

Castro-Teles J, Sousa-Pinto B, Rebelo S, Pignatelli D. Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: not a needle in a haystack. Endocr Connect. 2021;10:R293–304.

Article  PubMed  PubMed Central  Google Scholar 

Gruber LM, Erickson D, Babovic-Vuksanovic D, Thompson GB, Young WF Jr, Bancos I. Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1. Clin Endocrinol. 2017;86:141–9.

Article  CAS  Google Scholar 

Petr EJ, Else T. Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening. Clin Diabetes Endocrinol. 2018;4:15.

Article  PubMed  PubMed Central  Google Scholar 

Kumamoto T, Yamazaki F, Nakano Y, Tamura C, Tashiro S, Hattori H, et al. Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1. Int J Clin Oncol. 2021;26:2161–78.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol. 2011;12:559–67.

Article  CAS  PubMed  Google Scholar 

VHA Alliance, VHLA suggested active surveillance guidelines (Updated 10/9/2020). https://www.vhl.org/wp-content/uploads/forms/vhla-active-surveillance-guidelines.pdf.

Louise M, Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, et al. von Hippel-Lindau disease: updated guideline for diagnosis and surveillance. Eur J Med Genet. 2022;65:104538.

Article  Google Scholar 

Carton C, Evans DG, Blanco I, Friedrich RE, Ferner RE, Farschtschi S, et al. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. EClin Med. 2023;56:101818.

Google Scholar 

Wasserman JD, Zambetti GP, Malkin D. Towards an understanding of the role of p53 in adrenocortical carcinogenesis. Mol Cell Endocrinol. 2012;351:101–10.

Article  CAS  PubMed  Google Scholar 

Hu H, Liu J, Liao X, Zhang S, Li H, Lu R, et al. Genetic and functional analysis of a Li Fraumeni syndrome family in China. Sci Rep. 2016;6:20221.

Article  CAS  PubMed  PubMed Central  Google Scholar 

de Andrade KC, Khincha PP, Hatton JN, Frone MN, Wegman-Ostrosky T, Mai PL, et al. Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study. Lancet Oncol. 2021;22:1787–98.

Article  PubMed  PubMed Central  Google Scholar 

Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, et al. Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer. 2016;122:3673–81.

Article  CAS  PubMed  Google Scholar 

Wasserman JD, Novokmet A, Eichler-Jonsson C, Ribeiro RC, Rodriguez-Galindo C, Zambetti GP, et al. Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. J Clin Oncol. 2015;33:602–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Raymond VM, Else T, Everett JN, Long JM, Gruber SB, Hammer GD. Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. J Clin Endocrinol Metab. 2013;98:E119–25.

Article  CAS  PubMed  Google Scholar 

Schrader KA, Cheng DT, Joseph V, Prasad M, Walsh M, Zehir A, et al. Germline variants in targeted tumor sequencing using matched normal DNA. JAMA Oncol. 2016;2:104–11.

Article  PubMed  PubMed Central  Google Scholar 

Ribeiro RC, Sandrini F, Figueiredo B, Zambetti GP, Michalkiewicz E, Lafferty AR, et al. An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci USA. 2001;98:9330–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Custódio G, Parise GA, Kiesel Filho N, Komechen H, Sabbaga CC, Rosati R, et al. Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors. J Clin Oncol. 2013;31:2619–26.

Article  PubMed  PubMed Central  Google Scholar 

Fortuno C, Pesaran T, Mester J, Dolinsky J, Yussuf A, McGoldrick K, et al. Genotype-phenotype correlations among TP53 carriers: literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing. Cancer Genet. 2020;248-249:11–7.

Article  CAS  PubMed  Google Scholar 

Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG, Network ER, et al. Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes. Eur J Hum Genet. 2020;28:1379–86.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Consul N, Amini B, Ibarra-Rovira JJ, Blair KJ, Moseley TW, Taher A, et al. Li-Fraumeni syndrome and whole-body MRI screening: screening guidelines, imaging features, and impact on patient management. AJR Am J Roentgenol. 2021;216:252–63.

Article  PubMed  Google Scholar 

Maratt JK, Stoffel E. Identification of Lynch syndrome. Gastrointest Endosc Clin N Am. 2022;32:45–58.

Article  PubMed  Google Scholar 

Raymond VM, Everett JN, Furtado LV, Gustafson SL, Jungbluth CR, Gruber SB, et al. Adrenocortical carcinoma is a lynch syndrome-associated cancer. J Clin Oncol. 2013;31:3012–8.

Article  PubMed  PubMed Central  Google Scholar 

Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003;348:919–32.

Article  CAS  PubMed  Google Scholar 

Challis BG, Kandasamy N, Powlson AS, Koulouri O, Annamalai AK, Happerfield L, et al. Familial adrenocortical carcinoma in association with Lynch syndrome. J Clin Endocrinol Metab. 2016;101:2269–72.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wright JP, Montgomery KW, Tierney J, Gilbert J, Solórzano CC, Idrees K. Ectopic, retroperitoneal adrenocortical carcinoma in the setting of Lynch syndrome. Fam Cancer. 2018;17:381–5.

Article  PubMed  PubMed Central  Google Scholar 

Raygada M, Raffeld M, Bernstein A, Miettinen M, Glod J, Hughes MS, et al. Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET. Am J Med Genet A. 2021;185:1282–7.

Article  PubMed