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The tumor shows lobules of small round cells separated by fibrovascular septa (hematoxylin & eosin stain; original magnification, Â 400).
Citations
... The patient age (30 years) respects the characteristic pattern of age distribution encountered in patients with primary ovarian PNET [4,15,16]. A maximum size of 110 mm has also been reported in other scientific articles [3,12], although the dimensions reported in the literature vary from 6.5 cm to 16.5 cm [5,17]. ...
Primitive neuroectodermal tumors (PNETs) of the ovary are extremely rare tumors composed of undifferentiated small cells with round nuclei and scant cytoplasm. They are rare in general and extremely rare in the female gynecological tract, where they most commonly affect the ovary, followed by the uterine corpus. The most common presenting symptoms are abdominal pain, bloating and the presence of a pelvic mass. Diagnosis mainly relies on immunohistochemical and fluorescence in situ hybridization (FISH). Due to the rarity of these tumors, there are no standard therapeutic guidelines and treatment consists of surgery, various chemotherapy regimens and/or radiotherapy. In this article, we report the case of a 30-year-old female with peripheral-type PNET (pPNET) of the ovary featuring Ewing sarcoma breakpoint region 1-Friend leukemia integration 1 (EWSR1-FLI1) fusion transcript, confirmed by next-generation sequencing (NGS).
... A search of the English-language literature from January 1980 to December 2017 was performed in PubMed, EMBASE and Google Scholar using the following key words: "primitive neuroectodermal tumor", "Ewing's sarcoma" and "neuroectodermal-type tumor". Ultimately, 12 reports comprising 15 cases with detailed clinical data were included for analysis [10][11][12][13][14][15][16][17][18][19][20][21]. ...
... She experienced two spontaneous pregnancies and delivered twice by cesarean section [14]. Another patient, who was 16 years old with stage IC disease, received paclitaxel and carboplatin chemotherapy after primary surgery, and no tumor was detected during the subsequent 13-month follow-up period [21]. The third patient, who was 17 years old with stage IA disease, only accepted left salpingo-oophorectomy and biopsy of the right ovary, but no adjuvant therapy; she remained in CR after a follow-up of 84 months [10]. ...
... Due to the limited sample size, risk factors for survival could not be determined in the present study. Some authors have suggested that the prognosis is poor for those diagnosed with distant metastasis [16,21]. Our analysis also found that even patients with stage I disease may experience rapid relapse. ...
Background:
The pathological characteristics, treatment strategies and prognosis of ovarian primary primitive neuroectodermal tumor (PNET) were unclear due to the rarity of PNET. All cases treated at Peking Union Medical College Hospital (PUMCH) between 1975 and 2016 and published in the English literature between 1980 to 2017 were reviewed.
Results:
Finally four cases from PUMCH and 15 cases in the literature were included. The median age was 25 years (range 13-79), and the median diameter of the tumors was 13.4 cm (range 5.0-30.0). The most common initial symptoms were abdominal pain, bloating and a pelvic mass. Diagnosis primarily depended on immunohistochemical and fluorescence in situ hybridization data. Treatment consisted of surgery, various chemotherapy regimens and/or radiotherapy. The 5-year overall survival (OS) and progression-free survival (PFS) rates were 15 and 52%, respectively. For patients with OS and PFS > 12 months, the median ages were 21 years (range 13-35) and 17 years (range 13-35), respectively, while for patients with OS < 12 months and PFS < 12 months, the median ages were 48 years (range 14-79) and 25 years (range 18-79), respectively.
Conclusions:
No standard therapy for ovarian primary PNET exists, and an individualized strategy is recommended. Young patients seem to have better prognoses.
... With rare exceptions, systemic combination of chemotherapy and definitive local therapy are typically suggested for all patients (6). Grier et al. (8) (9,10). The bleomycin, etoposide, and cisplatin regimen for treating germ cell tumors was also used (11). ...
... Vincristine, ifosfamide, etoposide, doxorubicin, and cyclophosphamide (EFT-2001 protocol, EWS family of tumor protocols) or ifosfamide, epirubicin, and dacarbazine (IAD) can be other alternate regimens for treating other soft tissue sarcomas (12)(13)(14)(15)(16). However, most patients with EFT died within 10 to 18 mo after diagnosis, with the exception of 1 patient with stage I disease (9)(10)(11)(12)(13)(14)(15)(16). ...
Ewing sarcoma and peripheral primitive neuroectodermal tumor constitute the Ewing family of tumors (EFT). EFTs primarily arising in the ovary are extremely rare. We report the case of a 22-yr-old nulliparous woman with a primary EFT in the ovary that initially presented as a 3-cm teratoma-like ovarian tumor, with rapid progression to a 15-cm-sized tumor with liver metastasis in 3 mo. The patient underwent suboptimal debulking surgery and salvage chemotherapy with vincristine, doxorubicin, and cyclophosphamide alternating with ifosfamide and etoposide. In conclusion, primary EFT in the ovary is extremely rare with highly aggressive behavior and poor outcome for metastatic disease. Demonstration of EWSR1 rearrangement, observed in a variety of soft tissue tumors, is very helpful in the diagnosis of EFT when interpreted on the basis morphology and immunohistochemistry.
... PNETs are uncommon entities especially for the female genital tract and the ovaries are the most common location (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15) . It seems that the exact age for non-skeletal ES is not clear, but cases in the literature were seen between the second and third decades of the life. ...
... The distinction between ES of the ovary and other tumors is made through immunohistochemistry studies. As seen in Table 2, (12)(13)(14)(15)24) on immunohistochemistry, diffuse membranous positivity for MIC2 (CD99), CD56 (neural cell adhesion molecule), HMW CK and FL1 led to the consideration of PNETs. Negativity for epithelial markers such as CK, EMA, desmin, and WT-1 led to the consideration of desmoplastic small round cell tumors (SRCTs). ...
Primitive neuroectodermal tumors are high-grade malignant neoplasms. These are uncommon entities for the female genital tract. The treatment, management and follow-up period of Ewing’s tumors are not well-defined because of their rarity in the genital tract. Surgical debulking is the mainstay treatment in all cases. After debulking surgery, patients receive chemotherapy and/or radiotherapy and there is a relation between disease stage and survival. Herein, we present a case of ovarian primitive neuroectodermal tumor with a review of previously reported cases.
... The pathogenesis of gynecologic PNETs is unclear, and mechanisms of tumor development are likely dependent on primary site and association with another tumor type. The identification of teratoma in a significant minority of ovarian PNETs based on our study and others (2,(4)(5)(6) suggests germ cell derivation in at least a subset of tumors arising at this site. There have been rare reports of teratomas (45,(56)(57)(58)(59)(60) arising in the uterus, and while it is conceivable that teratoma may be a source of uterine PNETs as it is in the ovary, teratoma has not been found in association with PNET in the uterus (1, 9-25, 40, 41). ...
Primary primitive neuroectodermal tumor (PNET) of the female genital tract is rare, and its proper classification remains unclear. The clinical, histologic, and immunophenotypic features as well as EWSR1 rearrangement status of 19 gynecologic PNETs, including 10 ovarian, 8 uterine, and 1 vulvar tumors, are herein reported. Patient age ranged from 12 to 68 years, with a median age of 20 and 51 years among those with ovarian and uterine PNETs, respectively. Morphologic features of central nervous system (CNS) tumors were seen in 15 PNETs, including 9 medulloblastomas, 3 ependymomas, 2 medulloepitheliomas, and 1 glioblastoma, consistent with central PNET. The remaining 4 PNETs were composed entirely of undifferentiated small round blue cells and were classified as Ewing sarcoma/peripheral PNET. Eight PNETs were associated with another tumor type, including 5 ovarian mature cystic teratomas, 2 endometrial low-grade endometrioid carcinomas, and a uterine carcinosarcoma. By immunohistochemistry, 17 PNETs expressed at least 1 marker of neuronal differentiation, including synaptophysin, NSE, CD56, S100, and chromogranin in 10, 8, 14, 8, and 1 tumors, respectively. GFAP was positive in 4 PNETs, all of which were of central type. Membranous CD99 and nuclear Fli-1 staining was seen in 10 and 16 tumors, respectively, and concurrent expression of both markers was seen in both central and Ewing sarcoma/peripheral PNETs. All tumors expressed vimentin, whereas keratin cocktail (CAM5.2, AE1/AE3) staining was only focally present in 4 PNETs. Fluorescence in situ hybridization was successful in all cases and confirmed EWSR1 rearrangement in 2 of 4 tumors demonstrating morphologic features of Ewing sarcoma/peripheral PNET and concurrent CD99 and Fli-1 expression. In conclusion, central and Ewing sarcoma/peripheral PNETs may be encountered in the female genital tract with central PNETs being more common. Central PNETs show a spectrum of morphologic features that overlaps with CNS tumors but lack EWSR1 rearrangements. GFAP expression supports a morphologic impression of central PNET and is absent in Ewing sarcoma/peripheral PNET. Ewing sarcoma/peripheral PNETs lack morphologic features of CNS tumors.
Introduction
The diagnosis of Ewing sarcoma family of tumours (ESFT) is challenging, especially in adults and in extra-skeletal or visceral location. Several morphologic mimics with varied treatment options and prognosis confer diagnostic dilemmas. Application of ancillary diagnostic modalities in surgical pathology in clinical routine has enabled accurate diagnosis of ESFT in bone, soft tissues, and viscera.
Aim
The study aims to assess the clinicopathological features including molecular test results of ESFT with emphasis on sex, age, and location, especially extra-skeletal soft tissue and visceral location.
Material and Methods
Data of clinicopathological, molecular tests (wherever performed), diagnosis rendered in 302 ESFT over a decade from our centre were reviewed. Statistical comparison of skeletal and extra-skeletal tumours with reference to age and sex was done using SPSS package. The P value of <.05 was considered significant.
Results
The cohort included 302 ESFTs with 49% skeletal and 51% extra-skeletal tumours. Thigh was most common site among skeletal tumours; chest wall, paraspinal location, and retroperitoneum among soft tissues (39.4%); and kidney, ovary, and cervix among visceral tumours (11.3%). Fluorescence in situ hybridisation for EWSR1 gene rearrangement was positive in 54 patients and reverse-transcriptase polymerase chain reaction in 19 patients. Predominance of male sex, younger age and location in extremities among skeletal tumours and lack of gender predilection, higher age and axial location in extra-skeletal tumours were noted, which were statistically significant. Molecular tests were performed more frequently in extra-skeletal tumours, especially in visceral tumours to establish the diagnosis.
Conclusions
The study showed statistically significant differences in the age, sex, and location between skeletal and extra-skeletal ESFT. The increased percentage of extra-skeletal tumours especially in viscera was attributed to the increased awareness and availability of ancillary techniques.
Ewing's sarcoma with diverse morphologies and genotype remains a diagnostic dilemma We share our experience of Ewing's sarcoma with special reference to extraskeletal ESFT
