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. 2021 Oct 6;12:709256. doi: 10.3389/fendo.2021.709256

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Copyright © 2021 Matrood, Apostolidis, Schrader, Krug, Lahner, Ramaswamy, Librizzi, Kender, Kröcher, Kreutzfeldt, Gress and Rinke

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Representative imaging and genomic rearrangements of molecularly characterized patients IX (LCNEC G3) and XII (NET G2). (A) CT and (D) DOTATOC-PET/CT of presacral primary (white arrowheads) and metastases (white arrows). (B) CT-guided biopsy of retroperitoneal lymph node metastasis and (E) ultrasound-guided biopsy of liver metastasis for fresh tissue for genomic analysis. (C, F) Circle plots of genomic rearrangements. Despite slightly lower tumor mutational burden, case XII shows a much higher number of rearrangements as a sign of homologous DNA repair deficiency possibly due to a pathogenic frameshift SETD2 mutation.