Universität zu Köln

Quaas, A., Waldschmidt, D., Alakus, H., Zander, T., Heydt, C., Goeser, T., Daheim, M., Kasper, P., Plum, P., Bruns, C., Brunn, A., Roth, W., Hartmann, N., Bunck, A., Schmidt, M., Goebel, H., Tharun, L., Buettner, R. and Merkelbach-Bruse, S. (2018). Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel. BMC Gastroenterol., 18. LONDON: BIOMED CENTRAL LTD. ISSN 1471-230X

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Abstract

Background: Adenocarcinomas or combined adeno-neuroendocrine carcinomas (MANEC) of small bowel usually have a dismal prognosis with limited systemic therapy options. This is the first description of a patient showing a germline-related BRCA1 mutated MANEC of his ileum. The tumor presented a susceptibility to a combined chemotherapy and the PARP1-inhibitor olaparib. Case presentation: A 74-year old male patient presented with a metastasized MANEC of his ileum. Due to clinical symptoms his ileum-tumor and the single brain metastasis were removed. We verified the same pathogenic (class 5) BRCA1 mutation in different tumor locations. There was no known personal history of a previous malignant tumor. Nevertheless we identified his BRCA1 mutation as germline-related. A systemic treatment was started including Gemcitabine followed by selective internal radiotherapy (SIRT) to treat liver metastases and in the further course Capecitabine but this treatment finally failed after 9 months and all liver metastases showed progression. The treatment failure was the reason to induce an individualized therapeutic approach using combined chemotherapy of carboplatin, paclitaxel and the Poly (ADP-ribose) polymerase-(PARP)-inhibitor olaparib analogous to the treatment protocol of Oza et al. All liver metastases demonstrated with significant tumor regression after 3 months and could be removed. In his most current follow up from December 2017 (25 months after his primary diagnosis) the patient is in a very good general condition without evidence for further metastases. Conclusion: We present first evidence of a therapy susceptible germline-related BRCA1 mutation in small bowel adeno-neuroendocrine carcinoma (MANEC). Our findings offer a personalized treatment option. The germline background was unexpected in a 74-year old man with no previously known tumor burden. We should be aware of the familiar background in tumors of older patients as well.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Quaas, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Waldschmidt, D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Alakus, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Zander, T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Heydt, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Goeser, T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Daheim, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kasper, P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Plum, P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bruns, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Brunn, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Roth, W. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hartmann, N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bunck, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schmidt, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Goebel, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Tharun, L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Buettner, R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Merkelbach-Bruse, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-185860
DOI:	10.1186/s12876-018-0803-1
Journal or Publication Title:	BMC Gastroenterol.
Volume:	18
Date:	2018
Publisher:	BIOMED CENTRAL LTD
Place of Publication:	LONDON
ISSN:	1471-230X
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language RIBOSE POLYMERASE INHIBITORS; RANDOMIZED PHASE-2 TRIAL; SEROUS OVARIAN-CANCER; SOMATIC MUTATIONS; ADENOCARCINOMA; BRCA1 Multiple languages Gastroenterology & Hepatology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/18586