Senologie - Zeitschrift für Mammadiagnostik und -therapie 2020; 17(02): e40-e41
DOI: 10.1055/s-0040-1710723
Abstracts
Senologie

Multi-analyte tumor profiling for treatment guidance in a rare case of advanced refractory neuroendocrine carcinoma of the breast

D Schaffrin Nabe
1  Praxisgemeinschaft für Hämatologie und Onkologie Bochum, Bochum, Deutschland
,
S Schuster
2  Datar Cancer Genetics Europe, Eckersdorf, Deutschland
,
D Akolkar
3  Datar Cancer Genetics Ltd, Nasik, Indien
,
D Patil
3  Datar Cancer Genetics Ltd, Nasik, Indien
,
V Datta
3  Datar Cancer Genetics Ltd, Nasik, Indien
,
R Datar
3  Datar Cancer Genetics Ltd, Nasik, Indien
,
R Voigtmann
1  Praxisgemeinschaft für Hämatologie und Onkologie Bochum, Bochum, Deutschland
› Author Affiliations
 

Background Neuroendocrine carcinoma of the breast (NCEB) is a rare entity accounting for < 0.1 % of all breast carcinomas and < 1 % of all neuroendocrine carcinomas. Treatment strategies in NCEB are largely empirical in absence of prospective clinical trial data. There are only a few anecdotal reports on molecular characteristics of NECB for guiding treatment decisions. We hypothesized that multi-analyte profiling of the tumor interactome (‘Encyclopedic Tumor Analysis’, ETA) can reveal actionable vulnerabilities in NECB and can guide personalized treatment.

Methods A 51-year-old female patient was diagnosed with pT2pNM0G3 (Ki67 40 %), ER+/PR-/Her2neu- anaplastic neuroendocrine tumor of the left breast. Concerning the grading she underwent an adjuvant CTX, based on Carboplatin/Etoposid analogous to recommended treatment of neuroendocrine tumors (Raphael M. et al, CMAJ, 2017; 189(10):E398-E404). Six months after the end of the therapy the patient developed hepatic, bone and spinal metastasis. Freshly biopsied tumor-tissue and blood of the patient was used for ETA interrogating gene-mutations, gene-expression, immunohistochemistry and in vitro chemoresistance profiling (CRP) of viable tumor cells against approved anti-tumor agents.

Results Among other alterations, ETA detected STK11 mutation known to be favourable for mTOR Inhibitors. Signal transduction pathway modelling showed a VEGFA overexpression. In vitro CRP revealed sensitivity of the tumor towards Capecitabine despite an upregulation of TYMS. The patient was administered a combination regimen with Everolimus, Capecitabine and Bevacizumab. After 3 months of this combination a clinical benefit was seen, confirmed by Imaging.

Conclusion ETA can guide treatment decisions in such rare and difficult-to-treat Cancers.



Publication History

Publication Date:
24 June 2020 (online)

© Georg Thieme Verlag KG
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