Peripheral-type primitive neuroectodermal tumor of the ovary with EWSR1–FLI1 fusion transcript: a case report and brief review of literature

Abstract

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).

Intracranial Teratoma in Young Adult Female: Case Report

“…Regarding the symptomatology of intracranial teratomas, there is no specific and reliable clinical picture, which varies according to the size of the tumor, its location, and course, with findings of intracranial hypertension. 9,19 In the present case report, the manifestation of chronic periorbital headache is justified only by the presence of intracranial hypertension in the patient, as the other symptoms, such as: photophobia; phonophobia; nausea and vomiting together with facial and limb paresthesia were totally unspecific considering the location of the tumor lesion. In addition, nonspecific signs and symptoms are considered since there was no optic nerve compression or intraocular injury, considering that the tumor was located in the anterior portion of the temporal lobe; therefore, far from the posterior occipital portion.…”

Mature teratoma of conus medullaris: A case report and review of literature

“…Teratomas are generally classified into mature, immature, and malignant pathologic subtypes according to their degree of differentiation and the presence of benign or malignant components 2 . Teratomas that are immature or malignant are characterized by primitive and undifferentiated components and tend to be more aggressive tumors, with a shorter time to metastasis or recurrence 20,21 . However, these subtypes are less common than their mature counterparts, as our review of the literature revealed only two cases of immature teratoma of conus medullaris compared to 61 cases that had been classified as mature.…”

Mature Teratoma with Somatic-Type Malignancy: An Entity of Unacquaintance—A Case Report

“…8 They comprise only 0.3 to 0.6% of all intracranial tumors. 1 The most commonly proposed mechanisms for these tumors are KIT, KRAS/NRAS, and CBAL mutation. 9 These tumors show male predominance with an overall male-to-female ratio being 3:1 with approximately over 90% incidence in a young population.…”