Intestinal differentiated mucinous adenocarcinoma of the endometrium with sporadic MSI high status: a case report.

Trippel, Mafalda; Imboden, Sara; Papadia, Andrea; Mueller, Michael; Mertineit, Nando; Härmä, Kirsi Hannele; Nicolae, Alina; Vassella, Erik; Rau, Tilman (2017). Intestinal differentiated mucinous adenocarcinoma of the endometrium with sporadic MSI high status: a case report. Diagnostic pathology, 12(1), p. 39. BioMed Central 10.1186/s13000-017-0629-0

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BACKGROUND Intestinal differentiation of primary mucinous adenocarcinoma of the uterine corpus is exceedingly rare in comparison to the approximately 25% rate in endocervical and ovarian mucinous carcinoma. Additionally, little is known about the related genetic and epigenetic alterations, even though large-scale molecular characterisation of the different types of endometrial cancer took place in the TCGA project along the entities defined by the recent WHO classification. CASE PRESENTATION We present a 62-year-old patient harbouring a primary mucinous carcinoma of the uterine corpus with a morphological resemblance to mucinous colorectal adenocarcinoma. The intestinal differentiation was substantiated by CDX2 and CK20 positivity in the absence of PAX8, p16, WT1, p53, ER, PgR, AFP, SALL4 and Glypican3. A high MSI status with MLH1 hypermethylation was revealed by molecular testing. CONCLUSION Intestinal differentiation of mucinous adenocarcinoma of the endometrium is a unique observation. Besides morphology, it obviously can share molecular features of sporadic MSI colorectal cancers. It can be speculated that either CDX2 positive morula formation or intestinal metaplasia of the endometrium as rare conditions might be the origin of carcinogenesis for this type II endometrial cancer. Both conditions were not detectable in this case. Of note, categorising endometrial cancers in genetic subgroups like MSI high cancers alone might lead to the integration of likewise morphologically different tumours like the case presented here with intestinal differentiation. Hence, careful genotype-phenotype correlations are warranted for studies of mucinous adenocarcinoma of the endometrium.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Service Sector > Institute of Pathology
04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic, Interventional and Paediatric Radiology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Gynaecology

UniBE Contributor:

Trippel, Mafalda; Imboden, Sara; Papadia, Andrea; Mueller, Michael; Mertineit, Nando; Härmä, Kirsi Hannele; Nicolae, Alina; Vassella, Erik and Rau, Tilman

Subjects:

500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

1746-1596

Publisher:

BioMed Central

Language:

English

Submitter:

Ekkehard Hewer

Date Deposited:

16 Nov 2017 07:36

Last Modified:

23 Oct 2019 17:00

Publisher DOI:

10.1186/s13000-017-0629-0

PubMed ID:

28494767

Uncontrolled Keywords:

Endometrial cancer Intestinal differentiation MLH1 promotor methylation MSI Mucinous adenocarcinoma

BORIS DOI:

10.7892/boris.106427

URI:

https://boris.unibe.ch/id/eprint/106427

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