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Primary primitive neuroectodermal tumor of the cervix confirmed with molecular analysis in a 23-year-old woman: A case report.
Pathol Res Pract. 2012 Apr 15; 208(4):245-9.PR

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+Show Affiliations

4th Department of Obstetrics and Gynaecology, Aristotle University of Thessaloniki, Thessaloniki, Greece.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22365564

Citation

Masoura, Sophia, et al. "Primary Primitive Neuroectodermal Tumor of the Cervix Confirmed With Molecular Analysis in a 23-year-old Woman: a Case Report." Pathology, Research and Practice, vol. 208, no. 4, 2012, pp. 245-9.
Masoura S, Kourtis A, Kalogiannidis I, et al. Primary primitive neuroectodermal tumor of the cervix confirmed with molecular analysis in a 23-year-old woman: A case report. Pathol Res Pract. 2012;208(4):245-9.
Masoura, S., Kourtis, A., Kalogiannidis, I., Kotoula, V., Anagnostou, E., Angelidou, S., & Agorastos, T. (2012). Primary primitive neuroectodermal tumor of the cervix confirmed with molecular analysis in a 23-year-old woman: A case report. Pathology, Research and Practice, 208(4), 245-9. https://doi.org/10.1016/j.prp.2012.01.004
Masoura S, et al. Primary Primitive Neuroectodermal Tumor of the Cervix Confirmed With Molecular Analysis in a 23-year-old Woman: a Case Report. Pathol Res Pract. 2012 Apr 15;208(4):245-9. PubMed PMID: 22365564.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Primary primitive neuroectodermal tumor of the cervix confirmed with molecular analysis in a 23-year-old woman: A case report. AU - Masoura,Sophia, AU - Kourtis,Anargyros, AU - Kalogiannidis,Ioannis, AU - Kotoula,Vassiliki, AU - Anagnostou,Eleftherios, AU - Angelidou,Stamatia, AU - Agorastos,Theodoros, Y1 - 2012/02/24/ PY - 2010/11/28/received PY - 2011/12/03/revised PY - 2012/01/11/accepted PY - 2012/2/28/entrez PY - 2012/3/1/pubmed PY - 2012/8/3/medline SP - 245 EP - 9 JF - Pathology, research and practice JO - Pathol. Res. Pract. VL - 208 IS - 4 N2 - 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. SN - 1618-0631 UR - https://www.unboundmedicine.com/medline/citation/22365564/Primary_primitive_neuroectodermal_tumor_of_the_cervix_confirmed_with_molecular_analysis_in_a_23_year_old_woman:_A_case_report_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0344-0338(12)00031-3 DB - PRIME DP - Unbound Medicine ER -