Gene mutation pattern in endometriosis & its relations with non-neoplastic endometrium and adenomyosis

John Hopkins University

Principal Investigator:

Dr. Ayse AYHAN, MD, PhD. (Hamamatsu Univ, Hiroshima Univ and JH Univ Sch.Med)

Key Personnel

Dr.Ie-Ming SHIH, MD, Ph.D.

Dr. Tian-Li WANG, Molecular Genetics Laboratory of Female Reproductive Cancer Johns Hopkins University School of Medicine, pathology.jhu.edu/shihlab

Summary

Endometriosis is considered to be a benign inflammatory lesion. We have recently analyzed genetic alterations in deep infiltrating endometriosis in a group of patients including Dr.Seckin’s patients with the support of Endometriosis Foundation of America by exome sequencing and reported in NEJM for the first time that there are cancer-related (driver) mutations in these non-neoplastic endometriosis tissues in the epithelial component of the endometriosis.

As the pathogenesis of endometriosis and endometriosis-adenomyosis relationship are still obscure, and still retrograde menstruation is the most probable pathogenetic cause along with other theories, in the current project we want to clarify the relation of endometriosis (that we already performed exome analysis) with the eutopic endometrium and the adenomyosis of the very same patients.

We plan to perform exome sequencing of endometrium and adenomyosis (when present) of these patients (currently 7 to 9 patients seem to have an appropriate amount of tissue) and see whether we have (similar) mutations in the eutopic endometrium and adenomyosis of these patients, and compare with already detected mutations of deep infiltrating endometriosis mutations.

Therefore, we hypothesize that the eutopic endometrium of endometriosis patients, when they carry some mutations, may act like cancer cells, move to make deep infiltrating endometriosis (or adenomyosis).

Our study aims to clarify whether (at least some of them) the very same mutations present in eutopic endometrium and adenomyosis. By kind collaboration with Dr.Seckin and discussing his ideas along with his support for our research, we want to examine the role and the relation of eutopic endometrium and adenomyosis to better clarify endometriosis pathogenesis. As the background cases already sequenced, the study will be cheaper to finalize comparatively to a new exome analyze.


Bio

Dr. Ayse AYHAN, MD, PhD. (Hamamatsu Univ, Hiroshima Univ and JH Univ Sch.Med)

While being admitted as a member of the medical profession, I swore Hippocratic oath to solemnly pledge myself to consecrate my life to the service of humanity; practice my profession with conscience and dignity; maintain the honor and the noble traditions of the medical profession; not permit considerations of religion-nationality-race, politics, socioeconomic orientation to intervene between my duty and my patient.

I became a pathologist as I believe that PATHOLOGY is not only the basis of medicine, but also correct histopathological diagnosis is important and necessary for correct clinical management. I love to act as diagnostician, teacher and investigator.

Knowing that research using money/time-consuming molecular technics necessitates well defined pathology background and appropriate collaborative work to have an impact on the scientific field and patient wellness, I continued my way with PhD dealing on molecular pathology.

I decided to be scientist while I was entering Ankara Fen Lisesi (a special highschool teaching specifically science located at Ankara). I have always tried to be questioning, unprejudiced, unbiased but criticizing, realistic and reproducible during my scientific research and my principal personal motto has been to be a responsible scientist with deep respect to science’s greatness.

I continue my diagnostician, teacher and researcher life on neoplastic diseases in general and on the pathology of gynecologic malignant tumors specifically throughout the world.

I strongly believe that my family-daughters-sons-grandchildren and my friends are my most valuable treasures.