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Case Report

Genomic and Clinical Correlates of Adrenocortical Carcinoma in an Adult Patient with Li-Fraumeni Syndrome: A Case Report

1
Faculty of Health Sciences, McMaster University, Hamilton, ON L8S 4L8, Canada
2
Division of Urology, Department of Surgery, McMaster University, Hamilton, ON L8S 4L8, Canada
3
Division of Medical Oncology, Department of Oncology, McMaster University, Hamilton, ON L8V 5C2, Canada
*
Author to whom correspondence should be addressed.
Curr. Oncol. 2021, 28(1), 226-232; https://doi.org/10.3390/curroncol28010025
Received: 16 November 2020 / Revised: 22 December 2020 / Accepted: 29 December 2020 / Published: 31 December 2020
Li-Fraumeni Syndrome (LFS) is defined by germline mutations of the p53 tumour suppressor gene. Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that is commonly associated with LFS. Most LFS-linked ACC cases occur in children, and limited research has been dedicated to the clinical outcomes and genomics of adult cases with LFS-linked ACC. We report on a 34-year-old female who was diagnosed with three separate malignancies: stage III invasive ductal carcinoma of the right breast, metastatic ACC from the right adrenal gland, and grade 2 pleomorphic sarcoma of the left hand. Her invasive breast ductal carcinoma was treated with neoadjuvant chemotherapy, and she received a bilateral mastectomy after her LFS was confirmed with genetic blood testing. Adrenal ACC was initially treated with a right nephrectomy and adrenalectomy, followed by adjuvant mitotane and two lines of chemotherapy after disease recurrence. Her hand sarcoma was treated by second ray amputation. Further, we conducted deep next-generation sequencing of each of her unique tumour tissue samples using FoundationONE CDx. A whole-genome shot capture followed by in vitro sequencing performed by the Illumina® HiSeq platform revealed a germline P191fs*18 TP53 mutation across all three tissue samples. This case provides insight into the genomics and clinical characteristics of LFS-linked adult-onset ACC and demonstrated that p53 mutations were preserved throughout each malignancy, without apparent treatment pressures on genomic profiling. This case reinforces the critical importance of adopting best practices for LFS, which include the implementation of highly vigilant screening and management of care in a multidisciplinary setting. View Full-Text
Keywords: Li-Fraumeni Syndrome; adrenocortical carcinoma; next-generation sequencing Li-Fraumeni Syndrome; adrenocortical carcinoma; next-generation sequencing
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MDPI and ACS Style

Bondy, S.; Tajzler, C.; Hotte, S.J.; Kapoor, A.; Zbuk, K.; Lalani, A.-K.A. Genomic and Clinical Correlates of Adrenocortical Carcinoma in an Adult Patient with Li-Fraumeni Syndrome: A Case Report. Curr. Oncol. 2021, 28, 226-232. https://doi.org/10.3390/curroncol28010025

AMA Style

Bondy S, Tajzler C, Hotte SJ, Kapoor A, Zbuk K, Lalani A-KA. Genomic and Clinical Correlates of Adrenocortical Carcinoma in an Adult Patient with Li-Fraumeni Syndrome: A Case Report. Current Oncology. 2021; 28(1):226-232. https://doi.org/10.3390/curroncol28010025

Chicago/Turabian Style

Bondy, Suraya, Camilla Tajzler, Sebastien J. Hotte, Anil Kapoor, Kevin Zbuk, and Aly-Khan A. Lalani 2021. "Genomic and Clinical Correlates of Adrenocortical Carcinoma in an Adult Patient with Li-Fraumeni Syndrome: A Case Report" Current Oncology 28, no. 1: 226-232. https://doi.org/10.3390/curroncol28010025

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