Primitive neuroectodermal tumor of the cervix uteri: A case report Changing concepts in therapy
ABSTRACT Peripheral primitive neuroectodermal tumor (PNET) of the cervix uteri is extremely rare. Between 1987 and 2002, there have been eight cases described in the English literature. The treatment policies in these eight cases differed considerably, partly due to the rarity of the disease and to differing time periods of diagnosis and treatment.
At the end of 2002, a 21-year-old woman presented with a PNET of the cervix uteri at our institute, the Erasmus Medical Center. For the appropriate treatment in this case, we reviewed the literature and decided that the treatment should be different from the local surgical treatment followed by additional treatments as most of the earlier reports describe.
In view of the current knowledge of PNET belonging to the family of Ewing's sarcoma, and the improvement of treatment outcome in these tumors due to dose-intensive neo-adjuvant chemotherapy, patients with PNET of the cervix should be treated in accordance to the protocol for bony Ewing's sarcoma with multimodality therapy by means of induction chemotherapy, surgery, and consolidation chemotherapy.
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ABSTRACT: DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor [SLCT]), and/or multinodular goiter (MNG). We report DICER1 mutations in seven additional families that manifested uterine cervix embryonal rhabdomyosarcoma (cERMS, four cases) and primitive neuroectodermal tumor (cPNET, one case), Wilms tumor (WT, three cases), pulmonary sequestration (PS, one case), and juvenile intestinal polyp (one case). One carrier developed (age 25 years) a pleomorphic sarcoma of the thigh; another carrier had transposition of great arteries (TGA). These observations show that cERMS, cPNET, WT, PS, and juvenile polyps fall within the spectrum of DICER1-related diseases. DICER1 appears to be the first gene implicated in the etiology of cERMS, cPNET, and PS. Young adulthood sarcomas and perhaps congenital malformations such as TGA may also be associated.Human Mutation 12/2011; 32(12):1381-4. DOI:10.1002/humu.21600 · 5.05 Impact Factor
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ABSTRACT: Ewing sarcoma, a highly malignant neoplasm of the bone, usually occurs during childhood. About 15% are extraosseous. The Ewing family of tumors (EFTs) are extremely rare in the vagina. A 40-year literature review from 1970 to 2010 revealed only nine cases. A 32-year-old woman presented with a painless vaginal mass. A wide excision was performed. Histopathology, immunohistochemistry and molecular studies confirmed extraosseous vaginal Ewing sarcoma. Despite aggressive chemotherapy with a good initial response, she developed local recurrence and metastasis to the spine and pelvis and succumbed 22 months later. A previous infiltrating ductal breast cancer, treated and in remission complicated the picture. We present the tenth case of vaginal Ewing sarcoma and the fourth to be confirmed by molecular studies. We stress the importance of molecular techniques in definitely diagnosing EFTs, especially those arising at unusual sites, particularly in the context of a previous diagnosis of breast cancer.Annals of Saudi medicine 03/2013; 33(2):182-6. DOI:10.5144/0256-4947.2013.182 · 0.71 Impact Factor
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ABSTRACT: Sarcomas constitute less than 1% of all cervical malignancies. With over 150 reported cases, rhabdomyosarcomas represent the most commonly reported sarcoma at this location. In this report, a select group of the more uncommon sarcomas of the uterine cervix are reviewed, including all previously reported examples of leiomyosarcoma, liposarcoma, alveolar soft part sarcoma, Ewing sarcoma/primitive neuroectodermal tumor, undifferentiated endocervical sarcoma, and malignant peripheral nerve sheath tumor (MPNST). Emphasis is placed on any distinctive clinicopathologic features of these entities at this unusual location.Diagnostic Pathology 02/2006; 1:30. DOI:10.1186/1746-1596-1-30 · 2.41 Impact Factor