title: Molecular diagnosis of endometrial cancer from uterine aspirates.
abstract: Rapid and reliable diagnosis of endometrial cancer (EC) in uterine aspirates is highly desirable. Current sensitivity and failure rate of histological diagnosis limit the success of this method and subsequent hysteroscopy is often necessary. Using quantitative reverse transcriptase-polymerase chain reaction on RNA from uterine aspirates samples, we measured the expression level of 20 previously identified genes involved in EC pathology, created five algorithms based on combinations of five genes and evaluated their ability to diagnose EC. The algorithms were tested in a prospective, double-blind, multicenter study. We enlisted 514 patients who presented with abnormal uterine bleeding. EC was diagnosed in 60 of the 514 patients (12%). Molecular analysis was performed on the remnants of aspirates and results were compared to the final histological diagnoses obtained through biopsies acquired by aspiration or guided by hysteroscopy, or from the specimens resected by hysterectomy. Algorithm 5 was the best performing molecular diagnostic classifier in the case-control and validation study. The molecular test had a sensitivity of 81%, specificity of 96%, positive predictive value (PPV) of 75% and negative predictive value (NPV) of 97%. A combination of the molecular and histological diagnosis had a sensitivity of 91%, specificity of 97%, PPV of 79% and NPV of 99% and the cases that could be diagnosed on uterine aspirate rose from 76 to 93% when combined with the molecular test. Incorporation of the molecular diagnosis increases the reliability of a negative diagnosis, reduces the need for hysteroscopies and helps to identify additional cases.
authors: Oryzon Genomics, Cornellà de Llobregat, Barcelona, Spain.
authors: Cristina
authors: C
authors: Perez-Sanchez
authors: Eva
authors: E
authors: Colas
authors: Silvia
authors: S
authors: Cabrera
authors: Orlando
authors: O
authors: Falcon
authors: Angel
authors: A
authors: Sanchez-del-Río
authors: Enrique
authors: E
authors: García
authors: Luis
authors: L
authors: Fernández-de-Castillo
authors: Juan Carlos
authors: JC
authors: Muruzabal
authors: Elena
authors: E
authors: Alvarez
authors: Gabriel
authors: G
authors: Fiol
authors: Carmen
authors: C
authors: González
authors: Rafael
authors: R
authors: Torrejón
authors: Eloy
authors: E
authors: Moral
authors: Miriam
authors: M
authors: Campos
authors: Manuel
authors: M
authors: Repollés
authors: Ramon
authors: R
authors: Carreras
authors: Jesus
authors: J
authors: Jiménez-López
authors: Jordi
authors: J
authors: Xercavins
authors: Elena
authors: E
authors: Aibar
authors: Alvaro
authors: A
authors: Perdones-Montero
authors: Eric
authors: E
authors: Lalanne
authors: Marta
authors: M
authors: Palicio
authors: Tamara
authors: T
authors: Maes
authors: Elisabet
authors: E
authors: Rosell-Vives
authors: Carlos
authors: C
authors: Nieto
authors: Alicia
authors: A
authors: Ortega
authors: Nuria
authors: N
authors: Pedrola
authors: Marta
authors: M
authors: Llauradó
authors: Marina
authors: M
authors: Rigau
authors: Andreas
authors: A
authors: Doll
authors: Miguel
authors: M
authors: Abal
authors: Jordi
authors: J
authors: Ponce
authors: Antonio
authors: A
authors: Gil-Moreno
authors: Jaume
authors: J
authors: Reventós
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy / Q000379:methods; D016022:Case-Control Studies; D004311:Double-Blind Method; D016889:Endometrial Neoplasms / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D007044:Hysterectomy / Q000379:methods; D015907:Hysteroscopy / Q000379:methods; D008875:Middle Aged; D057089:Pathology, Molecular / Q000379:methods; D011446:Prospective Studies; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D014592:Uterine Hemorrhage / Q000175:diagnosis / Q000473:pathology; D014594:Uterine Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D055815:Young Adult
keywords: endometrial aspirates; endometrial cancer; molecular diagnostics