Primary primitive neuroectodermal tumor of the uterus: a report of two cases and review of the literature

BACKGROUND: Primary primitive neuroectodermal (pPNET) tumors rarely occur in adults, and they very rarely present as primary tumors of the uterus. Only 12 reported cases of pPNET of the uterus have been published in the English literature. We report two additional cases treated at the Roswell Park Cancer Institute, Buffalo, NY, between 1999 and 2002. CASES: Two postmenopausal patients presenting with abnormal uterine bleeding underwent endometrial biopsy, and subsequently staging laparotomy. The diagnosis of pPNET in both cases was confirmed only by extensive immunohistochemical analysis of the tumors. One patient with disease confined to an endometrial polyp received no adjuvant therapy, while the second patient with extrauterine disease received adjuvant pelvic radiation followed by chemotherapy. CONCLUSIONS: The diagnosis of pPNET of the uterus may be a challenge. Features of diagnostic significance include positive staining with neuron-specific enolase, presence of neurosecretory granules, and positive staining with the MIC-2 gene. Currently, there is no uniformity in the treatment of these cases since the majority of the patients reported to date have had surgery, chemotherapy, and/or radiation therapy.     

Primary Ewing's sarcoma-primitive neuroectodermal tumor of the uterus: a case report and literature review

BACKGROUND: Primary Ewing's sarcoma-primitive neuroectodermal tumor (ES-PNET) of the uterus is an extremely rare malignancy. CASE: A 30-year-old Korean woman presented with abnormal uterine bleeding with uterine enlargement. A computed tomography (CT) scan and magnetic resonance imaging (MRI) of the abdomen and pelvis showed a huge uterine mass measuring 18 x 20 x 21 cm, metastasis to both pelvic and para-aortic lymph nodes, and omental infiltration. The pathology report of the uterine mass described a uniformly hypercellular tumor, which was arranged in diffuse solid sheets of uniform, small, rounded, and sometimes spindle-shaped cells, with scanty cytoplasm. Immunohistochemically, the mass tested positive for vimentin, CD99, and chromogranin. The patient received several courses of combination chemotherapy and radiotherapy but died from tumor progression 16 months after the initial diagnosis. CONCLUSION(S): This is a rare case of primary uterine ES-PNET in a woman of reproductive age. A review of the literature indicates that primary uterine ES-PNET requires early diagnosis and multimodality treatment including surgery, chemotherapy, and radiotherapy. The behavior of this tumor is potentially aggressive.     

Uterine primitive neuroectodermal tumor: a case report

Background  Primitive neuroectodermal tumors of uterus (PNET) are extremely rare in tumors of the female genital system and therefore there is no sufficient information about their diagnosis, treatment, and follow-up. Case  The case is a 32-year-old, operated in emergency conditions due to intra-abdominal hemorrhage, and discusses our diagnosis and treatment approaches in the light of literature data. Conclusion  To the best of our knowledge, this is first report of uterine PNET that presented with intraabdominal hemorrhage due to uterine rupture. Despite advances in therapy, the prognosis is poor. The low number of these cases precludes accurate standardization of therapy.     

Primitive neuroectodermal tumor of the uterus: a case report and review of literature.

A case of primitive neuroectodermal tumor arising in the uterine corpus of a 43-year-old woman is presented. The tumor mass was 13.3 cm and extended to the uterine serosa, endocervical stroma, and left adnexa. Histologically, the tumor was composed of small blue cells with scant cytoplasm, indistinct cell borders, hyperchromatic round nuclei, and inconspicuous nucleoli focally forming pseudorosettes, suggestive of neuroectodermal origin. The tumor cells displayed strong immunoreactivity for CD99 and FLI1. Cytogenetic fluorescence in situ hybridization study revealed presence of an EWS-FLI1 fusion gene. To the best of our knowledge, this is the first case of primitive neuroectodermal tumor of the uterus with diagnosis confirmed by FLI1 immunohistochemical labeling and demonstration of t (11; 22) by fluorescence in situ hybridization.     

Neonatal macrocephaly: cerebral primitive neuroectodermal tumor or neuroblastoma as an infrequent cause--a case report and review of the literature

We report a male term newborn presenting with a congenital macrocephaly 3.5 standard deviations above the median, with a wide and tense anterior fontanel, splayed calvarial sutures, and muscular hypotonia. Antenatal head circumferences were repeatedly below the median. A postnatal head ultrasound showed a large right intracerebral mass with right lateral ventricle compression, right temporal horn dilation, and right frontal horn enlargement with lateral displacement. Additional imaging by computed tomography scan and magnetic resonance imaging was performed. A decompression was performed and histology, immunohistochemistry, and molecular biology supported the diagnosis of a primitive neuroectodermal tumor. A MYCN gene amplification assay remained negative. The incidence of neonatal brain tumors is between 1.4 and 4.1/100,000 live births. Their most common presentation is macrocephaly, hydrocephalus, stillbirth, or diagnosis by pre- or postnatal imaging. Although hydrocephaly and intra- or extracranial hemorrhage are the most frequent causes of congenital macrocephaly, this should be initially investigated by head ultrasound. A suspected malignancy will be confirmed by histopathology, immunohistochemistry, and molecular biology.     

Cervical granulocytic sarcoma: report of one case and review of the literature

Granulocytic sarcoma in the female genital tract generally has a poor prognosis. We report the case of a 52-year-old nonleukemic patient with relapsed granulocytic sarcoma at the vaginal stump after an 11-year complete remission from the uterine cervix. Magnetic resonance imaging of the pelvis showed a pear-shaped mass arising from the vagina mimicking a normal uterus. The unusual clinical presentation and the difficulties encountered in evaluation are presented. A review of the literature indicates that survival is better with multimodality management and in patients without leukemia.     

Primary cutaneous pre-B lymphoblastic lymphoma immunohistologically mimics Ewing's sarcoma/primitive neuroectodermal tumor.

Precursor B-cell lymphoblastic lymphomas (B-LBLs) are rare and most often involve the skin in the head and neck region. Histologically, cutaneous B-LBLs may be confused with other small round-cell neoplasms. Moreover, half of B-LBL patients are negative for CD45 (leucocyte common antigen, LCA), a widely used marker for the diagnosis of lymphoma, and a significant portion express CD99, a marker for Ewing's sarcoma (ES) or primitive neuroectodermal tumor (PNET). Therefore, an extranodal B-LBL may be misinterpreted as PNET or ES. Here, we report on 2 boys, aged 10 and 5 years, with primary cutaneous B-LBL of the scalp. PNET was initially misdiagnosed because the tumor cells were negative for CD45 but strongly positive for CD99. Advanced stage of acute lymphoblastic leukemia (ALL) developed later and both patients died during the course of treatment for ALL. In retrospective analyses, tumor cells in the initial biopsy specimens of both patients were found to be reactive to terminal deoxynucleotidyl transferase (TdT), CD43 and CD10. Thus, the diagnosis of B-LBL was confirmed. These cases illustrate the possibility that primary cutaneous B-LBL may mimic ES or PNET immunophenotypically, and that correct diagnosis in doubtful cases may be facilitated by analysis using a complete panel of antibodies, particularly including TdT and CD43.     

Primary granulocytic sarcoma of the breast: a case report and review of the literature

Primary granulocytic sarcoma is an uncommon entity that rarely presents in the breast. It is frequently misdiagnosed as carcinoma or lymphoma and a broad panel of immunohistochemical markers including epithelial and haematological markers are essential for an accurate diagnosis. We reviewed all the cases of granulocytic sarcoma reported in the English literature since 1970 and present a new case of granulocytic sarcoma of the breast. Systemic chemotherapy for acute myeloid leukemia (AML) appears to be superior to surgery or radiotherapy. Granulocytic sarcoma should be in the pathologic differential diagnosis of a breast mass.     

Primary ovarian trabecular carcinoid tumor: a case report and literature review

Introduction  

Carcinoid tumors are uncommon neoplasms in the diffuse peripheral endocrine system. Ovarian carcinoids are rare and can be primary or transplanted. Primary ovarian carcinoids make up approximately 0.5–1.7% of all carcinoid tumors.     

Primary yolk sac tumor of the omentum: a case report and review of the literature

Background  Extraovarian yolk sac tumors (YSTs) arising in the omentum represent an exceedingly rare malignancy. Case  A 37-year-old Korean woman was admitted with a history of lower abdominal pain of 3 weeks duration. Pelvic computerized tomography (CT) scanning reported a bilateral ovarian malignancy with peritoneal seeding. Exploration findings revealed a greater omental mass and the result of frozen biopsy was adenocarcinoma or mesothelioma. She was treated with supracolic omentectomy, bilateral salpingo-oophorectomy, pelvic and paraaortic lymph node dissection, multiple peritoneal biopsies and appendectomy. Histological evaluation of the specimen after operation exhibited typical patterns of YST and stained for alpha-fetoprotein (AFP) and cytokeratin. Four courses of bleomycin, etoposide, and cisplatin (BEP) combination chemotherapy repeated every 3 weeks were added to therapy and she has remained free of disease for 1 year after completion of the therapy. Conclusion  To our knowledge this is the fourth case of primary omental YST. A review of the literature indicates that the diagnosis of YST requires proper evaluations of tumor makers and a skilled pathologist for analysis of frozen sections.     

Primary yolk sac tumor of the endometrium: a case report and review of the literature

We describe a rare case of a primary yolk sac tumor of the endometrium treated with a simple total hysterectomy without bilateral salpingo-oophorectomy and 3 cycles of the bleomycin, etoposide and cisplatin regimen.     

Primary primitive neuroectodermal tumor of the urinary tract.

Primary primitive neuroectodermal tumor (PNET) of the urinary tract is a rare disease with aggressive behavior and poor prognosis. We analyzed 851 cases of urinary tract malignancies in our hospital between 1984 and 2004. Only three (0.035%) cases with PNET of the urinary tract were identified. Presenting symptoms included flank pain and hematuria. The first case was a 44-year-old man with left renal PNET who underwent hand-assisted laparoscopic radical nephrectomy and adjuvant chemotherapy. There was no recurrent tumor at the 4-year follow-up. The second case was a 75-year-old woman with right renal PNET with inferior vena cava (IVC) thrombosis extending to the right atrium. The patient underwent right radical nephroureterectomy and IVC thrombectomy with cardiopulmonary bypass. She died of metastatic disease 7 months later. The third case was a 45-year-old man with left ureteral PNET. Left ureteral segmental resection and partial cystectomy were performed. Tumor recurrence was noted 7 years later. The patient died of disseminated disease 1 year after the discovery of recurrence. Urinary tract PNET appears to be an aggressive malignancy. Long-term survival is possible if complete resection is performed at an early stage.