Primitive neuroectodermal tumours of the uterus: a case report with cytological correlation and review of the literature

Ng, Siok Bian; Sittampalam, Kesavan; Chuah, Khoon Leong

doi:10.1080/0031302021000009397

Cited by 22 publications

(9 citation statements)

References 17 publications

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“…Noteworthy, it seems from the study of the published cases that the EWSR1 is more frequently found in younger (\50 years) patients. Only seven cases of endometrioid adenocarcinoma associated with PNET are described in the literature [4,9,18,24,29]. Three of these had an EWSR1 rearrangement, in three no molecular study was done, and in one no signal was obtained.…”

Section: Discussionmentioning

confidence: 98%

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

et al. 2010

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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.

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Section: Discussionmentioning

confidence: 98%

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

et al. 2010

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“…5,6,11,16,18,25,26,31 Over half of the patients (n = 15) had some type of abnormal vaginal bleeding at the time of presentation 1,5,6,11,12,16,18,23,26,30,31 and (n = 14) had disease >stage I after clinical and/or surgical evaluation. 1,6,11,17,18,22,23,25,30,31 On histologic examination, 13 tumors had some evidence of neuroectodermal differentiation such as rosette formation. 1,5,6,11,12,16,17,23,26,30 The remaining tumors were composed of a diffuse proliferation of small, primitiveappearing cells.…”

Section: Discussionmentioning

confidence: 99%

“…19,20 Among the visceral sites in which PNETs have been reported to occur, those in the female genital tract are among the least well characterized. 1,[4][5][6][7][11][12][13][14][16][17][18][21][22][23][25][26][27][28]30,31 Of the sites within the female genital tract, neuroectodermal tumors of the ovary have been considered the best described although the largest series included tumors not conventionally classified as such. 13 Most of the neuroectodermal tumors arising in the female genital tract have been referred to as PNETs, or PNET, on the basis of their histologic appearance and immunohistochemical profile.…”

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confidence: 99%

Uterine Tumors With Neuroectodermal Differentiation

Euscher

Deavers

López‐Terrada

et al. 2008

American Journal of Surgical Pathology

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Uterine tumors with neuroectodermal differentiation, frequently referred to as primitive neuroectodermal tumors (PNETs), are uncommon. The clinicopathologic features of 17 such cases reviewed at the M.D. Anderson Cancer Center (MDACC) are presented along with a review of the literature. All of the pathology material was reviewed at MDACC, and in all cases, immunohistochemistry contributed to the diagnosis. In 12 cases, in situ hybridization techniques were used to determine whether a rearrangement of the EWSR1 gene, required for a diagnosis of peripheral PNET, was present. Clinical information was obtained from a patient chart review. Ages ranged from 31 to 81 years (median 58). Clinical presentations included vaginal bleeding (9), back pain (1), presumed fibroids (2), pelvic mass (1), incidental finding at hysterectomy (1), and unknown (3). Twelve patients had surgery or imaging to determine stage: I (2), II (0), III (6), and IV (4). Five patients had biopsy only. Ten tumors had only neuroectodermal components. In 7 tumors, the neuroectodermal component was admixed with an additional component including unclassified sarcoma (2 cases), rhabdomyosarcoma, endometrioid carcinoma, adenosarcoma and malignant mixed Mullerian tumor (2 cases). Follow-up, available for 13 patients, ranged from 2 to 41 months with 7 patients dead of disease 2 to 26 months after diagnosis. Six patients are alive with no evidence of disease after follow-up ranging from 6 to 41 months. Four patients were lost to follow-up. Results for the most commonly used immunohistochemistry studies include cytokeratin, 13/15 tumors negative (2 focally positive); synaptophysin, 15/16 tumors positive; neurofilament, 10/11 tumors positive; and CD99, 7/9 tumors positive (2 tumors had nonspecific cytoplasmic staining). None of the 12 tumors tested had a detectable rearrangement in the EWSR1 gene. Uterine tumors with neuroectodermal differentiation, similar to more common endometrial malignancies, tend to occur in postmenopausal women and frequently present with vaginal bleeding. An immunohistochemistry panel including cytokeratin, neurofilament, synaptophysin, and CD99 can highlight neuroectodermal differentiation and identify tumors for which molecular testing should be considered. Tumors without a rearrangement of the EWSR1 gene should be descriptively characterized as uterine tumors with neuroectodermal differentiation or alternatively central type PNETs rather than PNET, not otherwise specified to avoid confusion with peripheral PNET.

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“…To date, over 64 cases of primary uterine PNET have been reported in the literature (Ng, 2002, Dizon et al, 2013, Novo et al, 2015), the largest being a seventeen-patient case series by Euscher et al (2008).…”

Section: Introductionmentioning

confidence: 99%