{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:40:37Z","timestamp":1760150437182,"version":"build-2065373602"},"reference-count":31,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T00:00:00Z","timestamp":1699315200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Saving Kids for Cancer Foundation (Poland)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Adrenocortical carcinoma (ACC) is a rare cancer in childhood. ACC is frequently associated with germline TP53 variants, with founder effects especially due to the p.Arg337His mutation. ACC leads to the secretion of adrenocortical hormones, resulting in endocrine syndromes, which is the usual trigger for establishing the diagnosis. We present a surprising ACC pathology in a non-secreting, ectopic retroperitoneal tumour in a 4-year-old boy, successfully controlled with chemotherapy and mitotane after microscopically incomplete tumour resection with spillage. Genomic analysis (gene panel sequencing and copy-number microarray) demonstrated a novel p.Phe338Leu tetramerisation domain (TD) TP53 variant in the proband and his cancer-free mother and a monoallelic deletion encompassing the TP53 locus in cancer tissue, consistent with cancer-predisposition syndrome. While the recurrent p.Arg337His variant translates into high ACC risk, residue 338 and, in general, TD domain variants drive heterogeneous clinical scenarios, despite generally being considered less disruptive than TP53 DNA-binding domain mutations.<\/jats:p>","DOI":"10.3390\/children10111793","type":"journal-article","created":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T11:23:39Z","timestamp":1699356219000},"page":"1793","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["An Asymptomatic, Ectopic Mass as a Presentation of Adrenocortical Carcinoma Due to a Novel Germline TP53 p.Phe338Leu Tetramerisation Domain Variant"],"prefix":"10.3390","volume":"10","author":[{"given":"Justyna","family":"Walenciak","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Oncology and Haematology, Medical University of Lodz, 91-738 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuzanna","family":"Urbanska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology and Haematology, Medical University of Lodz, 91-738 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3089-6947","authenticated-orcid":false,"given":"Agata","family":"Pastorczak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology and Haematology, Medical University of Lodz, 91-738 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9836-9118","authenticated-orcid":false,"given":"Katarzyna","family":"Babol-Pokora","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology and Haematology, Medical University of Lodz, 91-738 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamila","family":"Wypyszczak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology and Haematology, Medical University of Lodz, 91-738 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Bien","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, 80-210 Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Gawlowska-Marciniak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery and Oncology, Central University Hospital, Medical University of Lodz, 91-738 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7197-3334","authenticated-orcid":false,"given":"Jozef","family":"Kobos","sequence":"additional","affiliation":[{"name":"Department of Normal and Clinical Anatomy, Chair of Anatomy and Histology, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8318-5781","authenticated-orcid":false,"given":"Wieslawa","family":"Grajkowska","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Children\u2019s Memorial Health Institute, 04-736 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2147-9503","authenticated-orcid":false,"given":"Joanna","family":"Smyczynska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology and Nephrology, Medical University of Lodz, 91-738 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2714-5851","authenticated-orcid":false,"given":"Wojciech","family":"Mlynarski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology and Haematology, Medical University of Lodz, 91-738 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8007-6969","authenticated-orcid":false,"given":"Szymon","family":"Janczar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology and Haematology, Medical University of Lodz, 91-738 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Riedmeier, M., Decarolis, B., Haubitz, I., M\u00fcller, S., Uttinger, K., B\u00f6rner, K., Reibetanz, J., Wiegering, A., H\u00e4rtel, C., and Schlegel, P.G. 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