Value of testing for homologous recombination repair deficiency in newly diagnosed advanced-stage epithelial ovarian cancer: Recommendations for Belgian physicians

BJMO - volume 17, issue 2, march 2023

C. Gennigens MD, PhD, H. Denys MD, PhD, S. Altintas MD, PhD, J. Kerger MD, J-F. Baurain MD, PhD, V. Bours MD, PhD, S. Henry MD, K. Van de Vijver MD, PhD, D. Lambrechts PhD, I. Vergote MD, PhD


Epithelial ovarian cancer (EOC) is the most frequent form of OC, a disease with a poor prognosis and high lethality, as most patients are diagnosed at advanced stages. To successfully battle EOC, it is crucial to identify reliable biomarkers and use personalised therapies in patient subgroups. A common feature of high-grade serous and endometrioid OC is homologous recombination repair deficiency (HRD), which frequently stems from the inactivation of the breast cancer susceptibility (BRCA) genes. Poly-(adenosine diphosphate [ADP])-ribose polymerase inhibitors (PARPi) were, therefore, developed for their lethality against HRD tumour cells. While patients with non-HRD tumours may also benefit from PARPi therapy in the recurrent EOC setting, recent phase III trials on newly diagnosed advanced-stage EOC have shown that PARPi treatment benefit is greater in patients with HRD tumours. These findings open new avenues for the use of PARPi as maintenance therapy in HRD-positive patients who had received first-line chemotherapy. This manuscript provides recommendations for Belgian physicians on how to approach HRD testing and incorporate it into treatment decisions of patients with newly diagnosed advanced-stage EOC.

(BELG J MED ONCOL 2023;17(2):38–45)

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BJMO - volume 12, issue 3, february 2018

L. Jongen , Giuseppe Floris , D. Lambrechts PhD, Annouschka Laenen , Patrick Neven , Grace Mann , Richard Cutler Jr. , A. Lalani , H. Wildiers MD, PhD

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P.09 Tamoxifen metabolism and breast cancer efficacy in the neo-adjuvant or metastatic setting – a prospective multicenter trial

BJMO - 2017, issue 3, february 2017

L. Jongen , P. Neven MD, PhD, A. Lintermans , K. Van Asten MSc, C. Blomme , D. Lambrechts PhD, A. Poppe , H. Wildiers MD, PhD, A.S. Dieudonné , J. Decloedt MD, P. Berteloot , D. Verhoeven MD, PhD, M. Joerger , P. Vuylsteke MD, W. Wynendaele MD, PhD, M. Casteels , Sabine Van Huffel , W. Lybaert MD, J. Van Ginderachter , R. Paridaens , I. Vergote MD, PhD, V. Dezentjé , B. Van Calster PhD, H-J. Guchelaar

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Mixed adenoneuroendocrine carcinoma (MANEC) of the colon: molecular pathogenesis and treatment

BJMO - volume 9, issue 1, february 2015

L. Vanacker MD, D. Smeets PhD, A. Hoorens MD, PhD, E. Teugels PhD, R. Algaba MD, M.F. Dehou MD, A. De Becker MD, D. Lambrechts PhD, J. De Grève MD, PhD

We present the case of a 30-year-old male patient with a high grade neuroendocrine carcinoma and an adenocarcinoma developed in a tubulovillous adenoma of the colon, with diffuse liver metastasis. He underwent a right hemicolectomy and received four courses of postoperative chemotherapy with cisplatin and etoposide, followed by high dose chemotherapy with autologous stem cell support. After this treatment there was a complete biochemical and radiological remission. Now, 48 months after diagnosis the patient is alive and in unmaintained complete remission. The occurrence of a high grade neuroendocrine carcinoma in a low grade colon adenocarcinoma without any intermediate phenotypes was intriguing. Comparative exome sequencing of DNA from the malignant components revealed six somatic changes in cancer consensus genes. In both tumours, we detected mutations in APC and KRAS, as well as in BCL9 and FOXP1. Only in the neuroendocrine carcinoma component did we find a mutation in SMARCA4. All mutations were absent in germ-line DNA. The finding of several identical somatic mutations in both components in the subsequent exome sequencing supports a clonal relationship between the neuroendocrine carcinoma and the synchronous adenocarcinoma. We suggest that a mutation in SMARCA4A may be responsible for the abrupt transition to the aggressive neuroendocrine phenotype.

(BELG J MED ONCOL 2015;9(1):31–34)

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