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Updated: May 5, 2026
Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Cervical adenocarcinoma identification by testing for chromosomal abnormalities.
Janet L Dittus1, Bunyan S Dudley, Madhvi Upender
1From the Department of Gynecologic Oncology, Tennessee Oncology, Nashville, Tennessee (Dr Dudley); and NeoDiagnostix, Rockville, Maryland (Dr Upender and Mr Endress). Dr Dittus is in private practice, Nashville, Tennessee. Dr. Upender is now the CEO of Naveenum, Potomac, Maryland. Mr Endress is a full-time employee and stockholder of NeoDiagnostix, which provided clinical lab testing during the care of the patient. The other authors have no relevant financial interest in the products or companies described in this article.
Cervical adenocarcinoma in situ was diagnosed in a woman despite negative initial tests. DNA analysis revealed chromosomal abnormalities, leading to a biopsy that confirmed the diagnosis.
Area of Science:
- Gynecologic Oncology
- Cervical Pathology
- Molecular Diagnostics
Background:
- Cervical adenocarcinoma in situ (AIS) is a rare pre-malignant lesion.
- Human papillomavirus (HPV) infection is a primary risk factor for cervical cancers.
- Early detection of cervical abnormalities is crucial for effective management.
Observation:
- A 42-year-old woman with a history of HPV infection presented for evaluation.
- Initial diagnostic methods including repeat cytology, HPV testing, and colposcopy were inconclusive.
- Cervical cell DNA testing revealed significant chromosomal abnormalities.
Findings:
- The chromosomal abnormalities identified in cervical cells prompted further investigation.
- A cervical cone biopsy was performed for definitive diagnosis.
- The biopsy confirmed the presence of cervical adenocarcinoma in situ (AIS).
Implications:
- This case highlights the limitations of standard screening tests for detecting AIS.
- Cervical DNA testing for chromosomal abnormalities may offer a valuable adjunct in diagnosing challenging cases.
- Further research into molecular markers for AIS detection is warranted.
