Endometrial endometrioid adenocarcinoma associated with primitive neuroectodermal tumour of the uterus: a poor prognostic subtype of uterine tumours

Abstract

Uterine primitive neuroectodermal tumours are extremely rare tumours. They can occur in pure form or combined with another component including endometrioid adenocarcinoma. We aimed to review the clinical impact of neuroectodermal phenotype in uterine tumours, after we recently diagnosed one such case. A 58-year-old female presented with irregular vaginal bleeding. Ultrasonography and CT showed the presence of a large uterine mass with irregular contours. At laparotomy it was found to extend to the right ureter, sigmoid colon and some small intestinal loops. Microscopic examination revealed that the tumour consisted of an endometrioid adenocarcinoma component merging with an extensive neuroectodermal component. No EWSR1 or FUS rearrangement was found in the two tumour components. The patient received two courses of chemotherapy but died 11 months after the initial diagnosis. We reviewed the morphological and molecular criteria for the diagnosis of uterine primitive neuroectodermal tumours published in the literature. We conclude that regardless of the detection of an EWSR1 rearrangement, the presence of a neuroectodermal differentiation component in these rare uterine tumours is a marker of aggressive behaviour, and its presence should be highlighted in the diagnosis.

Uterine adenosarcoma admixed with a primitive neuroectodermal tumour (PNET): a case report and review of the literature

“…This reduces the importance of molecular confirmation for diagnosing uterine PNET. On the other hand, no significant difference in survival has been found related to ESWR1 rearrangement, whereas the two-year survival (46%) for uterine pure PNET (FIGO's annual report) [6] relates mainly with the surgical stage [7]. Of interest, the latest AJCC Cancer Staging Manual (2017) does not still provide staging criteria for uterine sarcomas other then adenosarcoma, leiomyosarcomas, and endometrial stromal sarcoma, leaving PNET staging in a grey area.…”

Primitive uterine neuroectodermal tumours: Two case reports

“…The most frequent localization of PNETs in female genital tract is reported to be the ovaries ( 2 ) . The cervix and vulva are rarely the primary site ( 3 ) .…”

“…Central PNETs are derived from the neural tube and primarily involve the brain and spinal cord. The peripheral PNETs originate from the neural crest and occur outside the central nervous system, often involving the sympathetic nervous system or soft tissues and bones ( 2 ) . Pelvic PNETs are frequently observed in the uterine corpus, ovaries, cervix, and vulva.…”

“…Also, immunohistochemical profiles and genetic analyses commonly help the pathologist to differentiate between PNET and other small round cell tumors. Nowadays, the cornerstone treatment of PNET is surgery followed by chemotherapy and/or radiotherapy ( 2 ) . This study aimed to describe and discuss this rare pathology of the female genital tract.…”

Endometrial Carcinomas

“…The findings of Homer-Wright and pseudovascular rosettes, foci of glial, ependymal, or medulloepithelial differentiation as well as positivity for CD99 and FLI-1 will favor a diagnosis of PNET. 142,143 ENDOMETRIAL VERSUS ENDOCERVICAL ADENOCARCINOMA (FIG. 9) Distinction between endometrial and endocervical carcinomas can be difficult, especially in biopsy specimens as besides overlapping histologic features between the two sites, there is often cross-contamination.…”