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Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel

Overview of attention for article published in BMC Gastroenterology, May 2018
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Title
Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel
Published in
BMC Gastroenterology, May 2018
DOI 10.1186/s12876-018-0803-1
Pubmed ID
Authors

A. Quaas, D. Waldschmidt, H. Alakus, T. Zander, C. Heydt, T. Goeser, M. Daheim, P. Kasper, P. Plum, C. Bruns, A. Brunn, W. Roth, N. Hartmann, A. Bunck, M. Schmidt, H. Göbel, L. Tharun, R. Buettner, S. Merkelbach-Bruse

Abstract

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. 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. 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.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Other 3 17%
Student > Doctoral Student 2 11%
Student > Ph. D. Student 2 11%
Researcher 2 11%
Unspecified 1 6%
Other 4 22%
Unknown 4 22%
Readers by discipline Count As %
Medicine and Dentistry 10 56%
Pharmacology, Toxicology and Pharmaceutical Science 1 6%
Unspecified 1 6%
Agricultural and Biological Sciences 1 6%
Biochemistry, Genetics and Molecular Biology 1 6%
Other 0 0%
Unknown 4 22%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 June 2018.
All research outputs
#15,683,389
of 23,305,591 outputs
Outputs from BMC Gastroenterology
#860
of 1,788 outputs
Outputs of similar age
#211,474
of 331,789 outputs
Outputs of similar age from BMC Gastroenterology
#14
of 34 outputs
Altmetric has tracked 23,305,591 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,788 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.1. This one is in the 40th percentile – i.e., 40% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 331,789 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 34 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 50% of its contemporaries.