Primary primitive neuroectodermal tumor of the cervix confirmed with molecular analysis in a 23-year-old woman: A case report.
Title | Primary primitive neuroectodermal tumor of the cervix confirmed with molecular analysis in a 23-year-old woman: A case report. |
Publication Type | Journal Article |
Year of Publication | 2012 |
Authors | Masoura, S., Kourtis A., Kalogiannidis I., Kotoula V., Anagnostou E., Angelidou S., & Agorastos T. |
Journal | Pathol Res Pract |
Volume | 208 |
Issue | 4 |
Pagination | 245-9 |
Date Published | 2012 Apr 15 |
ISSN | 1618-0631 |
Keywords | Cervix Uteri, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 22, Combined Modality Therapy, DNA, Neoplasm, Fatal Outcome, Female, Humans, Neuroectodermal Tumors, Primitive, Oncogene Proteins, Fusion, Pathology, Molecular, Proto-Oncogene Protein c-fli-1, RNA-Binding Protein EWS, Translocation, Genetic, Tumor Markers, Biological, Uterine Cervical Neoplasms, Young Adult |
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. |
DOI | 10.1016/j.prp.2012.01.004 |
Alternate Journal | Pathol. Res. Pract. |
PubMed ID | 22365564 |