Gene Sequencing Reveals Mutations in Endometriosis
By LabMedica International staff writers Posted on 24 May 2017 |

Image: Endometriosis in the peritoneal tissue (left) forming a scar. Under microscopy, it is composed of glands and surrounding stroma with chronic inflammation and fibrosis (Photo courtesy of Ie-Ming Shih).
Endometriosis occurs when tissue lining the uterus forms and grows outside of the organ, most often into the abdomen. The disease occurs in up to 10% of women before menopause and half of those with abdominal pain and infertility problems.
Endometriosis is defined as the presence of ectopic endometrial stroma and epithelium and can cause pelvic pain and infertility. Endometriotic lesions are considered to be benign inflammatory lesions but have cancer like features such as local invasion and resistance to apoptosis. Endometriosis most commonly involves the ovaries, fallopian tubes and the tissue lining of the pelvis. Rarely, endometrial tissue may spread beyond pelvic organs.
A large group of scientists led by those at Johns Hopkins Medicine analyzed deeply infiltrating endometriotic lesions from 27 patients by means of exomewide sequencing (24 patients) or cancer-driver targeted sequencing (three patients). Mutations were validated with the use of digital genomic methods in microdissected epithelium and stroma. Seven of the 24 women were from Japan; the rest were patients at Lenox Hill Hospital-Northwell Health. The use of samples from Japanese women was selected because endometriosis before menopause occurs more often in Asian women (13% to 18%) than in Caucasian women (6% to 10%).
The team found that of the 24 women, 19 had one or more mutations in their endometriosis tissue that were not present in their normal tissue. The type and number of mutations varied per endometriosis lesion and between each of the women. The most common mutations, occurring in five of the women, occurred in genes including ARID1A, PIK3CA, KRAS and PPP2R1A, all known for controlling cell growth, cell invasion and DNA damage repair. In an additional group of endometriosis samples biopsied from 15 women from British Columbia, the scientists looked specifically for mutations in the KRAS gene, whose expression signals proteins that spur cell growth and replication. They found KRAS mutations in five of the 15 patients.
Nickolas Papadopoulos, PhD, a professor of oncology and pathology and a co-author of the study, said, “We were surprised to find cancer-linked genes in these benign endometriosis samples because these lesions do not typically become cancer. We don't yet understand why these mutations occur in these tissues, but one possibility is that they could be giving the cells an advantage for growth and spread.” The study was published on May 11, 2017, in the New England Journal of Medicine.
Endometriosis is defined as the presence of ectopic endometrial stroma and epithelium and can cause pelvic pain and infertility. Endometriotic lesions are considered to be benign inflammatory lesions but have cancer like features such as local invasion and resistance to apoptosis. Endometriosis most commonly involves the ovaries, fallopian tubes and the tissue lining of the pelvis. Rarely, endometrial tissue may spread beyond pelvic organs.
A large group of scientists led by those at Johns Hopkins Medicine analyzed deeply infiltrating endometriotic lesions from 27 patients by means of exomewide sequencing (24 patients) or cancer-driver targeted sequencing (three patients). Mutations were validated with the use of digital genomic methods in microdissected epithelium and stroma. Seven of the 24 women were from Japan; the rest were patients at Lenox Hill Hospital-Northwell Health. The use of samples from Japanese women was selected because endometriosis before menopause occurs more often in Asian women (13% to 18%) than in Caucasian women (6% to 10%).
The team found that of the 24 women, 19 had one or more mutations in their endometriosis tissue that were not present in their normal tissue. The type and number of mutations varied per endometriosis lesion and between each of the women. The most common mutations, occurring in five of the women, occurred in genes including ARID1A, PIK3CA, KRAS and PPP2R1A, all known for controlling cell growth, cell invasion and DNA damage repair. In an additional group of endometriosis samples biopsied from 15 women from British Columbia, the scientists looked specifically for mutations in the KRAS gene, whose expression signals proteins that spur cell growth and replication. They found KRAS mutations in five of the 15 patients.
Nickolas Papadopoulos, PhD, a professor of oncology and pathology and a co-author of the study, said, “We were surprised to find cancer-linked genes in these benign endometriosis samples because these lesions do not typically become cancer. We don't yet understand why these mutations occur in these tissues, but one possibility is that they could be giving the cells an advantage for growth and spread.” The study was published on May 11, 2017, in the New England Journal of Medicine.
Latest Pathology News
- AI Performs Virtual Tissue Staining at Super-Resolution
- AI-Driven Preliminary Testing for Pancreatic Cancer Enhances Prognosis
- Cancer Chip Accurately Predicts Patient-Specific Chemotherapy Response
- Clinical AI Solution for Automatic Breast Cancer Grading Improves Diagnostic Accuracy
- Saliva-Based Testing to Enable Early Detection of Cancer, Heart Disease or Parkinson’s
- Advances in Monkeypox Virus Diagnostics to Improve Management of Future Outbreaks
- Nanoneedle-Studded Patch Could Eliminate Painful and Invasive Biopsies
- AI Cancer Classification Tool to Drive Targeted Treatments
- AI-Powered Imaging Enables Faster Lung Disease Treatment
- New Laboratory Method Speeds Diagnosis of Rare Genetic Disease
- New Technology Autonomously Detects AI Hallucinations in Digital Pathology
- Novel Algorithm Rapidly Identifies Cell Types to Improve Cancer Diagnosis
- AI Method Speeds Up Cancer Tracking Using Blood Tests
- New AI Tool Improves Blood Cancer Diagnosis
- Novel Platform Technology Predicts Diseases by Early Detection of Aging Signals in Liver Tissue
- AI Model Detects More Than 170 Cancer Types
Channels
Clinical Chemistry
view channel
New Clinical Chemistry Analyzer Designed to Meet Growing Demands of Modern Labs
A new clinical chemistry analyzer is designed to provide outstanding performance and maximum efficiency, without compromising affordability, to meet the growing demands of modern laboratories.... Read more
New Reference Measurement Procedure Standardizes Nucleic Acid Amplification Test Results
Nucleic acid amplification tests (NAATs) play a key role in diagnosing a wide range of infectious diseases. These tests are generally known for their high sensitivity and specificity, and they can be developed... Read moreHematology
view channel
Disposable Cartridge-Based Test Delivers Rapid and Accurate CBC Results
Complete Blood Count (CBC) is one of the most commonly ordered lab tests, crucial for diagnosing diseases, monitoring therapies, and conducting routine health screenings. However, more than 90% of physician... Read more
First Point-of-Care Heparin Monitoring Test Provides Results in Under 15 Minutes
Heparin dosing requires careful management to avoid both bleeding and clotting complications. In high-risk situations like extracorporeal membrane oxygenation (ECMO), mortality rates can reach about 50%,... Read moreImmunology
view channel
Blood Test Detects Organ Rejection in Heart Transplant Patients
Following a heart transplant, patients are required to undergo surgical biopsies so that physicians can assess the possibility of organ rejection. Rejection happens when the recipient’s immune system identifies... Read more
Liquid Biopsy Approach to Transform Diagnosis, Monitoring and Treatment of Lung Cancer
Lung cancer continues to be a major contributor to cancer-related deaths globally, with its biological complexity and diverse regulatory processes making diagnosis and treatment particularly difficult.... Read more
Computational Tool Exposes Hidden Cancer DNA Changes Influencing Treatment Resistance
Structural changes in tumor DNA are among the most damaging genetic alterations in cancer, yet they often go undetected, particularly when tissue samples are degraded or of low quality. These hidden genomic... Read moreMicrobiology
view channel
Viral Load Tests Can Help Predict Mpox Severity
Mpox is a viral infection that causes flu-like symptoms and a characteristic rash, which evolves significantly over time and varies between patients. The disease spreads mainly through direct contact with... Read more
Gut Microbiota Analysis Enables Early and Non-Invasive Detection of Gestational Diabetes
Gestational diabetes mellitus is a common metabolic disorder marked by abnormal glucose metabolism during pregnancy, typically emerging in the mid to late stages. It significantly heightens the risk of... Read morePathology
view channel
AI Performs Virtual Tissue Staining at Super-Resolution
Conventional histopathology, essential for diagnosing various diseases, typically involves chemically staining tissue samples to reveal cellular structures under a microscope. This process, known as “histochemical... Read more
AI-Driven Preliminary Testing for Pancreatic Cancer Enhances Prognosis
Pancreatic cancer poses a major global health threat due to its high mortality rate, with 467,409 deaths and 510,992 new cases reported worldwide in 2022. Often referred to as the "king" of all cancers,... Read more
Cancer Chip Accurately Predicts Patient-Specific Chemotherapy Response
Esophageal adenocarcinoma (EAC), one of the two primary types of esophageal cancer, ranks as the sixth leading cause of cancer-related deaths worldwide and currently lacks effective targeted therapies.... Read more
Clinical AI Solution for Automatic Breast Cancer Grading Improves Diagnostic Accuracy
Labs that use traditional image analysis methods often suffer from bottlenecks and delays. By digitizing their pathology practices, labs can streamline their work, allowing them to take on larger caseloads... Read moreTechnology
view channel
Inexpensive DNA Coated Electrode Paves Way for Disposable Diagnostics
Many people around the world still lack access to affordable, easy-to-use diagnostics for diseases like cancer, HIV, and influenza. Conventional sensors, while accurate, often rely on expensive equipment... Read more
New Miniature Device to Transform Testing of Blood Cancer Treatments
Chimeric antigen receptor (CAR) T cell therapy has emerged as a groundbreaking treatment for blood cancers like leukemia, offering hope to patients when other treatments fail. However, despite its promise,... Read moreIndustry
view channel
Lunit and Microsoft Collaborate to Advance AI-Driven Cancer Diagnosis
Lunit (Seoul, South Korea) and Microsoft (Redmond, WA, USA) have entered into a collaboration to accelerate the delivery of artificial intelligence (AI)-powered healthcare solutions. In conjunction with... Read more