Mixed large cell neuroendocrine carcinoma and squamous cell carcinoma of the colon: detailed molecular characterisation of two cases indicates a distinct colorectal cancer entity.

The Journal of Pathology. Clinical Research
Christine WoischkeJens Neumann

Abstract

We present two rare cases of mixed large cell neuroendocrine carcinoma and squamous cell carcinoma of the colon. A literature search revealed only three published cases with similar histology but none of these reports provided profound molecular and mutational analyses. Our two cases exhibited a distinct, colon-like immunophenotype with strong nuclear CDX2 and β-catenin expression in more than 90% of the tumour cells of both components. We analysed the two carcinomas regarding microsatellite stability, RAS, BRAF and PD-L1 status. In addition, next-generation panel sequencing with Ion AmpliSeq™ Cancer Hotspot Panel v2 was performed. This approach revealed mutations in FBXW7, CTNNB1 and PIK3CA in the first case and FBXW7 and RB1 mutations in the second case. We looked for similar mutational patterns in three publicly available colorectal adenocarcinoma data sets, as well as in collections of colorectal mixed neuroendocrine-non-neuroendocrine neoplasms (MiNENs) and colorectal neuroendocrine carcinomas. This approach indicated that the FBXW7 point mutation, without being accompanied by classical adenoma-carcinoma sequence mutations, such as APC, KRAS and TP53, likely occurs at a relatively high frequency in mixed neuroendocrine and...Continue Reading

References

Mar 1, 1988·Human Pathology·D E LundquestD Massop
Jan 5, 2002·Proceedings of the National Academy of Sciences of the United States of America·Keiko MiyoshiKhashayarsha Khazaie
Oct 3, 2002·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·A AudeauF A Frizelle
Mar 27, 2004·Diseases of the Colon and Rectum·P E BernickW D Wong
Oct 23, 2004·Current Biology : CB·Markus WelckerBruce E Clurman
Aug 27, 2005·Archives of Pathology & Laboratory Medicine·Lindsey B De LottWendy L Frankel
Jun 27, 2007·Proceedings of the National Academy of Sciences of the United States of America·Yang WangAndrew B Leiter
Apr 22, 2009·Cell·Raphael Kopan, Maria Xenia G Ilagan
Nov 23, 2010·American Journal of Physiology. Gastrointestinal and Liver Physiology·Yoshitatsu SeiStephen A Wank
Nov 26, 2010·The American Journal of Surgical Pathology·Jefferson TerryDiana N Ionescu
Jan 29, 2011·Langenbeck's Archives of Surgery·Simon SchimmackIrvin M Modlin
Nov 5, 2011·Gut·John K RamageUNKNOWN UK and Ireland Neuroendocrine Tumour Society
Feb 11, 2012·The Journal of Pathology·Hayley Davis, Ian Tomlinson
Jul 20, 2012·Nature·UNKNOWN Cancer Genome Atlas Network
Sep 13, 2012·Annals of Oncology : Official Journal of the European Society for Medical Oncology·H SorbyeU Knigge
Sep 25, 2012·Nature Cell Biology·Johan H van EsHans Clevers
Apr 4, 2013·Science Signaling·Jianjiong GaoNikolaus Schultz
Nov 19, 2013·International Journal of Surgery Case Reports·Konstantinos VardasSpiros Drakopoulos
Oct 15, 2014·Cancer Cell·Ryan J DavisBruce E Clurman
Dec 4, 2014·International Journal of Surgery Case Reports·Stefano ScaringiPaolo Bechi
Nov 26, 2015·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Wen-Jie WuZhi-Xiang Wu
Jan 13, 2016·Journal of Pathology and Translational Medicine·Han-Ik BaeAn Na Seo
Feb 26, 2016·The EMBO Journal·Yaohui ChenSuyun Huang
Mar 17, 2016·Nature Reviews. Molecular Cell Biology·Allyson J Merrell, Ben Z Stanger
Jun 22, 2016·Virchows Archiv : an International Journal of Pathology·Mike F MüllerMark J Arends
Aug 4, 2016·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Jian-Xin JiangHao Zhang
Aug 21, 2016·Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists·S Y AlomarJ A Dar
Sep 3, 2016·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Christine WoischkeDavid Horst
Jan 7, 2017·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Moritz JesinghausGünter Klöppel
Jan 10, 2018·Cancer Cell·Rona YaegerNikolaus Schultz
Aug 8, 2018·Inflammatory Bowel Diseases·Elia GuadagnoMarialaura Del Basso De Caro
Aug 14, 2018·Endocrinology and Metabolism Clinics of North America·Frediano InzaniGuido Rindi
Jul 7, 2019·International Journal of Surgery Case Reports·Adel ElkbuliDessy Boneva

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR
surgical resection
biopsy

Software Mentioned

Ion reporter
cBioPortal
Ensembl VEP

Related Concepts

Related Feeds

Carcinoma, Squamous Cell

Basal cell carcinoma is a form of malignant skin cancer found on the head and neck regions and has low rates of metastasis. Discover the latest research on basal cell carcinoma here.