Universität zu Köln

Bedau, Tillmann ORCID: 0000-0001-7510-2261, Heydt, Carina ORCID: 0000-0003-3184-9579, Siebolts, Udo ORCID: 0009-0000-2336-4737, Zander, Thomas ORCID: 0000-0002-4266-6818, Kraemer, Max ORCID: 0009-0006-9275-6121, Loeser, Heike, Buettner, Reinhard ORCID: 0000-0001-8806-4786 and Quaas, Alexander ORCID: 0000-0002-3537-6011 (2024). Concurrent KRAS p.G12C mutation and ANK3::RET fusion in a patient with metastatic colorectal cancer: a case report. Diagnostic Pathology, 19 (1). pp. 1-6. Springer Nature. ISSN 1746-1596

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Abstract

[Artikel-Nr.: 55] Background: Colorectal cancer (CRC) frequently involves mutations in the KRAS gene, impacting therapeutic strategies and prognosis. The occurrence of KRAS mutations typically precludes the presence of RET fusions, with current medical literature suggesting a mutual exclusivity between these two genetic alterations. We present a unique case that challenges this notion. Case Presentation: An 85-year-old female with metastatic CRC was found to have a combination of genetic anomalies that is to the best of our knowledge not yet described in the medical literature: a KRAS p.G12C mutation, associated with oncogenesis and treatment resistance, and an ANK3::RET fusion, an infrequent but targetable mutation in CRC. This molecular profile was uncovered through comprehensive genomic sequencing after the patient experienced metachronous tumor dissemination. The presence of both genetic events complicates the treatment approach. Conclusions: The identification of both a KRAS p.G12C mutation and an ANK3::RET fusion in the same CRC patient adds a new layer to the oncogenic landscape and treatment considerations for CRC. It highlights the intricate decision-making required in the era of precision medicine, where targeted therapies must be carefully chosen and potentially combined to combat complex genetic profiles. The case emphasizes the urgency of investigating the clinical effects of concurrent or sequential use of KRAS p.G12C and RET inhibitors to inform future therapeutic guidelines and improve patient outcomes in similar cases.

Item Type:	Article
Creators:	Creators Email ORCID ORCID Put Code Bedau, Tillmann UNSPECIFIED https://orcid.org/0000-0001-7510-2261 UNSPECIFIED Heydt, Carina UNSPECIFIED https://orcid.org/0000-0003-3184-9579 UNSPECIFIED Siebolts, Udo UNSPECIFIED https://orcid.org/0009-0000-2336-4737 UNSPECIFIED Zander, Thomas UNSPECIFIED https://orcid.org/0000-0002-4266-6818 UNSPECIFIED Kraemer, Max UNSPECIFIED https://orcid.org/0009-0006-9275-6121 UNSPECIFIED Loeser, Heike UNSPECIFIED UNSPECIFIED UNSPECIFIED Buettner, Reinhard UNSPECIFIED https://orcid.org/0000-0001-8806-4786 UNSPECIFIED Quaas, Alexander UNSPECIFIED https://orcid.org/0000-0002-3537-6011 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-815309
Identification Number:	10.1186/s13000-024-01478-1
Journal or Publication Title:	Diagnostic Pathology
Volume:	19
Number:	1
Page Range:	pp. 1-6
Number of Pages:	6
Date:	27 March 2024
Publisher:	Springer Nature
ISSN:	1746-1596
Language:	English
Faculty:	Faculty of Medicine
Divisions:	Faculty of Medicine > Pathologie und Neuropathologie > Institut für Pathologie Faculty of Medicine > Innere Medizin > Klinik I für Innere Medizin - Hämatologie und Onkologie Faculty of Medicine > Weitere > Centrum für integrierte Onkologie (CIO)
Subjects:	Medical sciences Medicine
Uncontrolled Keywords:	Keywords Language KRAS p.G12C mutation ; ANK3::RET fusion. ; Metastatic colorectal cancer ; Molecular diagnostics ; Targeted therapy ; Precision oncology ; Genetic profiling ; RET kinase inhibitors ; KRAS inhibitors ; Novel therapeutic strategies English
['eprint_fieldname_oa_funders' not defined]:	Publikationsfonds UzK
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/81530