Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing

Matalliotaki,Charoula; Matalliotakis,Michail; Zervou,Maria  I.; Trivli,Alexandra; Matalliotakis,Ioannis; Mavromatidis,George; Spandidos,Demetrios  A.; Albertsen,Hans  M.; Chettier,Rakesh; Ward,Kenneth; Goulielmos,George  N.

doi:10.3892/mmr.2018.9521

Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing

Authors:
- Charoula Matalliotaki
- Michail Matalliotakis
- Maria I. Zervou
- Alexandra Trivli
- Ioannis Matalliotakis
- George Mavromatidis
- Demetrios A. Spandidos
- Hans M. Albertsen
- Rakesh Chettier
- Kenneth Ward
- George N. Goulielmos
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Affiliations: 3rd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki 54124, Greece, Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, Heraklion 71003, Greece, Department of Obstetrics and Gynecology, Venizeleio General Hospital of Heraklion, Heraklion 71409, Greece, Laboratory of Clinical Virology, Medical School, University of Crete, Heraklion 71003, Greece, Juneau Biosciences, Salt Lake City, UT 84109, USA
Published online on: October 1, 2018 https://doi.org/10.3892/mmr.2018.9521
Pages: 5053-5057
Copyright: © Matalliotaki et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Endometriosis is an enigmatic condition with an unknown etiology and poorly understood pathogenesis and women with endometriosis represent a high-risk population group for a large category of chronic conditions. The study focused on a 67-year-old woman who presented with a 40-year history of familial endometriosis associated with various non-gynecological co-morbidities, thus representing a unique case from a cohort of 1,000 patients with endometriosis. Her family history included infertile members suffering from endometriosis. Thirteen non-gynecological co-morbidities were documented throughout the years, including five autoimmune diseases (i.e., systemic lupus erythematosus, ankylosing spondylitis, multiple sclerosis, bronchial asthma and Crohn's disease), urinary bladder diverticulum, osteoporosis, multinodular goiter, cardiovascular diseases, gastroesophageal reflux disease, malignant tumor of urinary bladder, Barrett's esophagus and bilateral cataract. In order to understand the potential role of gene mutations in the development of all those co-morbidities, whole exome sequencing was performed and the presence of various disease-associated, potentially causal missense variants, were observed. These findings are in accordance with the previously suggested common underlying etiologic pathway for some, but not all, autoimmune disorders. This unusual case provides novel insights demonstrating that endometriosis can coexist with various chronic autoimmune diseases and other conditions, including non-gynecological malignancies, which possibly share a common genetic cause, a fact that should be taken into consideration seriously by clinicians.

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