title: Primary primitive neuroectodermal tumor of the cervix confirmed with molecular analysis in a 23-year-old woman: A case report.
abstract: Primitive Neuroectodermal Tumor (PNET) of the genital tract is very rare, especially in the cervix. A case report of a young woman with a diagnosis of PNET originating from the uterine cervix is presented here. A 23-year-old woman presented with abnormal uterine bleeding and sharp lower abdominal pain of two months duration. CT and MRI of the abdomen and thorax revealed the presence of a large mass in the uterine cervix, enlarged pelvic lymph nodes and broncho-pulmonary infiltrations with regional nodes. Pathological examination of the tumor revealed a malignant neoplasm composed predominantly of small cells, immunohistochemically positive for CD99, vimentin and c-Kit. Molecular testing demonstrated the expression of EWS/FLI1 fusion transcripts corresponding to the t(11;22)(q24;q12) translocation, which confirmed the diagnosis of PNET of the uterine cervix. Despite surgical excision and administration of the first cycle of adjuvant chemotherapy, the patient died from multiple-organ failure and cardiac arrest. PNET arising from the genital tract, especially in the uterine cervix, is very rare and presents a diagnostic challenge. A timely confirmation with molecular analysis is essential for the diagnosis of such a tumor at an unusual site as in the present case.
authors.affiliation: 4th Department of Obstetrics and Gynaecology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Sophia
authors.initials: S
authors.lastname: Masoura
authors.forename: Anargyros
authors.initials: A
authors.lastname: Kourtis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Kalogiannidis
authors.forename: Vassiliki
authors.initials: V
authors.lastname: Kotoula
authors.forename: Eleftherios
authors.initials: E
authors.lastname: Anagnostou
authors.forename: Stamatia
authors.initials: S
authors.lastname: Angelidou
authors.forename: Theodoros
authors.initials: T
authors.lastname: Agorastos
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D002584:Cervix Uteri / Q000473:pathology / Q000601:surgery; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D003131:Combined Modality Therapy; D004273:DNA, Neoplasm / Q000032:analysis*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D018242:Neuroectodermal Tumors, Primitive / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D057089:Pathology, Molecular; D051789:Proto-Oncogene Protein c-fli-1 / Q000235:genetics; D034802:RNA-Binding Protein EWS / Q000235:genetics; D014178:Translocation, Genetic; D002583:Uterine Cervical Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; C106031:EWS-FLI fusion protein; D015514:Oncogene Proteins, Fusion; D051789:Proto-Oncogene Protein c-fli-1; D034802:RNA-Binding Protein EWS