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Int. J. Mol. Sci. 2011, 12(1), 627-632; doi:10.3390/ijms12010627
Case Report

HE4 in the Differential Diagnosis of a Pelvic Mass: A Case Report

1,†,* , 2,†
, 3
, 4
, 3
, 1
, 1
 and 1
1 Department of Molecular Medicine, Sapienza University, Rome 00161, Italy 2 CNR IBPM, Consiglio Nazionale Ricerche, Rome 00161, Italy 3 Department of Experimental Medicine, Sapienza University, Rome 00161, Italy 4 Department of Radiological Sciences, Sapienza University, Rome 00161, Italy These authors contributed equally to this work.
* Author to whom correspondence should be addressed.
Received: 12 December 2010 / Revised: 28 December 2010 / Accepted: 5 January 2011 / Published: 18 January 2011
(This article belongs to the Section Molecular Pathology)
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Abstract

Neoplasms of the ovary present an increasing challenge to the physician. Neoplastic ovarian cysts can resemble endometriomas in ultrasound imaging and need to be carefully considered in the differential diagnosis. We report the case of a woman with a strong family history of hereditary breast and ovarian cancer, who presented with a pelvic mass. The young girl refused oncogenetic counseling and genetic testing, even though she had a 50% a priori probability of being a BRCA1 mutation carrier. Pelvic magnetic resonance imaging (MRI) and a comparative analysis of the serum concentration of HE-4 and CA125 biomarkers provided accuracy and sensitivity in the diagnosis of a benign ovarian pathology. Based on this experience, we propose that the sensitivity of a screening program based on a HE4 and CA125 assay and MRI in high risk patients with mutations in the BRCA1 and BRCA2 genes may be considered a useful pre-operative tool for the differential diagnosis of pelvic masses.
Keywords: HE4 tumor marker; high-risk patients; ovarian cancer; endometriosis HE4 tumor marker; high-risk patients; ovarian cancer; endometriosis
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Anastasi, E.; Granato, T.; Coppa, A.; Manganaro, L.; Giannini, G.; Comploj, S.; Frati, L.; Midulla, C. HE4 in the Differential Diagnosis of a Pelvic Mass: A Case Report. Int. J. Mol. Sci. 2011, 12, 627-632.

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