Successful treatment of malignant rhabdoid tumor of the vulva in an older patient: a case report and review of the literature

PURPOSE: Malignant rhabdoid tumor (MRT) of the vulva is a rare and very aggressive neoplasm. Only 7 cases have been reported thus far in the English literature. This case reports the oldest patient to date with MRT. This 63 year old was successfully treated with surgery and radiation therapy. The current literature is reviewed, and different treatment modalities are considered and evaluated.     

Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors

Malignant rhabdoid tumor (MRT) is a highly aggressive neoplasm that occasionally demonstrates phenotypic overlap with other soft tissue malignancies. Molecular genetic analysis of MRT frequently demonstrates deletion or mutation of the hSNF5/INI1 gene, with corresponding reduced expression at the protein level. INI1 immunohistochemistry was performed to determine the utility of this method in assessing loss of INI1 expression in rhabdoid tumors. Twenty-seven MRTs with molecular analysis (19 renal, 8 extra-renal) were evaluated. Seventeen additional MRT (10 renal, 7 extra-renal) without INI1 molecular analysis were also analyzed. Loss of INI1 expression was observed in the tumor cells in all 44 cases. To determine the specificity of this assay, a variety of 45 pediatric soft tissue tumors, some of which occasionally display rhabdoid differentiation, were investigated. These included Ewing's sarcoma, Wilms' tumor, desmoplastic small round cell tumor, clear cell sarcoma, congenital mesoblastic nephroma, synovial sarcoma, undifferentiated sarcoma, rhabdomyosarcoma, and epithelioid sarcoma. Positive nuclear staining was found in all nonrhabdoid tumors examined. Of interest, synovial and epithelioid sarcomas exhibited variable and/or focal staining. INI1 antibody immunohistochemistry is useful in confirming the histologic diagnosis of renal or extra-renal rhabdoid tumor, especially for cases with indeterminate histologic features, equivocal immunophenotypic profiles, or uninformative molecular studies.     

Continuous remission in an infant with chest wall malignant rhabdoid tumor after relapse

Malignant rhabdoid tumor (MRT) is a highly aggressive tumor that occurs in infancy or childhood. The prognosis, especially in infants, is very poor. Here we report the long-term survival of a 5-month-old boy with MRT that arose from the chest wall. After total resection of the tumor, the patient was given 4 cycles of doxorubicin, vincristine, and cyclophosphamide, alternating with ifosfamide and etoposide. After 18 months off therapy, he had a local recurrence at the same site. After a second total resection, he was given additional chemotherapy with 30.6-Gy local irradiation. No further recurrence has been observed for 5 years since the second complete remission. Currently, he is alive and well at 7.5 years post-onset. Our experience in this case suggests a fundamental strategy of successful treatment of this highly malignant pediatric tumor: (1) complete resection of the localized tumor, (2) intensive multiagent chemotherapy for the minimal disseminated disease, and (3) radiotherapy for local control of the disease.     

Malignant rhabdoid tumor of the vulva: is distinction from epithelioid sarcoma possible? A pathologic and immunohistochemical study

Epithelioid sarcoma (ES) and malignant rhabdoid tumor (MRT) have heretofore been regarded as two separate clinicopathologic entities. However, they have some histologic similarities, and both represent histogenetic and phenotypic enigmas. This study reports the pathologic and immunohistochemical findings of four vulvar neoplasms occurring in young women that represented diagnostic dilemmas because of their similarity to both ES and MRT. Only one case had the classic histologic features of ES, whereas, in our opinion, the other three cases fulfilled the histologic criteria of MRT, despite the fact that two of the three cases were reported earlier as examples of ES. Neither electron microscopy nor immunohistochemistry has been found to be helpful in separating ES from MRT, mainly because they share several ultrastructural and immunophenotypic features. The behavior of these vulvar tumors--ours and the few published examples of ES--is generally aggressive, more in keeping with MRT than classic ES. We believe that some, if not most, putative ES of the vulva are in fact MRT, a neoplasm with an unfavorable prognosis.     

Transitional cell carcinoma with rhabdoid features.

We discuss the light-microscopic, immunohistochemical, electron-microscopic, and flow cytometric analysis in a case of invasive transitional cell carcinoma of the renal pelvis with rhabdoid features and glandular metaplasia. This tumor demonstrated in situ rhabdoid transformation of the transitional epithelium, which has not been described before. Electron-microscopic examination of the rhabdoid cells revealed whorled aggregates of intermediate filaments. There was also evidence of mucin-filled intracellular lumina on light and electron microscopy in both in situ and invasive components of the tumor. Our findings lend support to the view that tumors with "rhabdoid" features in adults and perhaps some children represent a heterogeneous group of neoplasms, some of which may just be unusual morphologic variants of a transitional cell carcinoma, in contrast to the distinct clinicopathologic entity of childhood renal rhabdoid tumors.     

Malignant Rhabdoid Tumor of the Floor of Mouth: First Reported Case in the Oral Cavity of an Adult

Malignant rhabdoid tumors (MRTs) are exceedingly rare lesions. To our knowledge, only 2 cases have been reported in the oral cavity, with both examples occurring in infants. The current case is the third reported case of MRT of the oral cavity and the first reported case to occur in an adult at this location. The following report describes the clinical, histologic and immunohistochemical features of this tumor.     

Analysis of chromosome 22q as an aid to the diagnosis of rhabdoid tumor: a case report.

Malignant rhabdoid tumor is a highly aggressive tumor of childhood that may present as a soft-tissue primary tumor. We report a soft-tissue neoplasm that was polyphenotypic by immunohistochemical expression of epithelial, mesenchymal, and neural markers and did not meet the criteria for any of the usual pediatric small round-cell tumors. The findings raised the diagnosis of rhabdoid tumor, leading to testing for WT1 mRNA and protein expression, which were positive, as has been reported for renal rhabdoid tumor. This tumor had the typical clinical behavior of rhabdoid tumor with therapy resistance and early tumor-related death. Multicolor spectral karyotyping of this neoplasm showed a balanced translocation between chromosomes 1 and 22 with breakpoints at 1p36 and 22q11-12. The latter region is commonly involved in rhabdoid tumor. This change was also identified by fluorescence in situ hybridization. This case suggests that studies of chromosome 22 may be required to distinguish rhabdoid tumor from other soft-tissue tumors.     

Rhabdoid transformation of recurrent meningioma in the cervical cord: a case report

We report a case of persistent local recurrence of rhabdoid meningioma in the cervical spinal cord. Recently, the meningioma has been reported to be undergoing rhabdoid transformation, but the clinical course is still unclear. Histopathological examination of the tumor showed that it was composed of both meningothelial cells and rhabdoid cells. At each recurrence of the tumor, the population of the rhabdoid cells had increased and the ability to grow had also increased, confirmed by the MIB-1 labeling index. This case showed that phenotypic change of the cells with rhabdoid morphology may affect meningiomas and that such changes are associated with aggressive biological and clinical behavior. This newly classified tumor should be recognized in the differential diagnosis of meningioma.     

Suprasellar germinoma occurring two years after total removal of pineal teratoma

A rare case of a suprasellar germinoma occurring 2 years after total removal of a pineal benign teratoma is presented. The suprasellar germinoma was not considered a recurrence or dissemination from the pineal tumor, but to have been transformed from germ cells present in the suprasellar region. Although it is controversial whether radiation treatment should be given to a patient with a totally removed benign teratoma, careful follow-up computed tomography scans are indispensable for detecting a possible occurrence of other germ cell tumors.     

Undifferentiated carcinoma of the vulva mimicking epithelioid sarcoma.

We report an undifferentiated sweat gland carcinoma of the vulva in an 80-year-old woman. The tumor, which was located in the right labium majus, resembled an epithelioid sarcoma histologically; it had a granulomatous appearance with multiple tumor nodules containing epithelioid tumor cells. The tumor also contained rhabdoid cells; a large cluster of them showed histological features indistinguishable from those of a malignant rhabdoid tumor. Immunohistochemically, the tumor cells reacted not only for epithelial markers such as cytokeratins, EMA, and CEA, which are known to be expressed by epithelioid sarcoma, but also for CA125 and with monoclonal antibodies recognizing sweat gland structures--namely, EKH5 and EKH6. For comparison, two epithelioid sarcomas and two extrarenal malignant rhabdoid tumors were also studied. Of these tumors, only one extrarenal rhabdoid tumor reacted with EKH5, and none reacted for CA125. Electron-microscopic examination of the present tumor showed the presence of discontinuous basal laminae and tonofibril-like structures as well as primitive cell junctions and interdigitating filopodia. From these findings, we conclude that the tumor was an undifferentiated sweat gland carcinoma mimicking an epithelioid sarcoma. Findings in this case support the idea of the diverse histogenesis of extrarenal malignant rhabdoid tumors and indicate that electron microscopy is important for differentiating epithelioid sarcoma from skin adnexal carcinoma.     

Malignant brain tumor with rhabdoid features in an adult

Rhabdoid tumor (RT) of the central nervous system is an uncommon and aggressive neoplasm that usually affects pediatric patients. Currently, these tumors are classified as malignant RT or atypical teratoid/RT. Another entity of intraparenchymal brain tumor with a rhabdoid component is the extremely rare rhabdoid glioblastoma. A 23-year-old woman presented with a malignant RT in the right thalamus. The tumor was adjacent to the right lateral ventricle and was partially resected. Histological examination revealed prominent proliferation of rhabdoid cells, which is consistent with a diagnosis of malignant RT; the typical features of glioblastoma were not observed. The tumor cells stained positively for integrase interactor-1 and glial fibrillary acidic protein. Therefore, the tumor may have originated from glial components. Genetic analysis using comparative genomic hybridization showed a deoxyribonucleic acid copy-number gain on chromosome 7 but not on chromosome 22. The tumor did not respond to chemotherapy or radiotherapy, and the patient survived for only 4 months after surgery. The present case of malignant RTs shows certain similarities with those of rhabdoid glioblastoma. Further accumulation and analysis of data, including data from genetic analyses, may lead to the identification of a new type of malignant RT.     

Myoepithelial Carcinoma of the Breast with Focal Rhabdoid Features

Myoepithelial carcinoma of the breast is extremely rare and only 33 cases have been reported in the English literature. Herein, we report a case of myoepithelial carcinoma of the breast with focal rhabdoid features. The patient was a 67‐year‐old woman, who presented with a lump of the left breast that rapidly grew to 3 cm in diameter within 3 months. Lumpectomy revealed a solid and whitish colored tumor, which was composed mainly of elongated spindle‐shaped cells with mild atypia, focal necrosis, and infiltrative margin. In a small area of the lesion, ovoid tumor cells exhibited eccentric nuclei with centrally located nucleoli and plump cytoplasm including round eosinophilic inclusions, resembling a rhabdoid tumor. Immunohistochemically, both types of tumor cells exhibited a myoepithelial phenotype. MIB‐1 index was 30%. The cytoplasmic inclusion of the ovoid cells exhibited immunopositivity for both vimentin and cytokeratin. From these findings, this tumor was diagnosed as a myoepithelial carcinoma with focal rhabdoid features. Although rhabdoid features have been reported in some types of malignant and benign tumors, this is the first report of such features in myoepithelial carcinoma of the breast.     

Suprasellar germ cell tumor with extracranial metastases

A case of metastasizing suprasellar germ cell tumor is described. Serum tumor markers were measured and the immunochemistry of the tumor was studied. The rarity of extracranial metastasis from suprasellar germinomas is noted, and the relevance to mixed tumors is discussed. The difficulties associated with small biopsies and the importance of tumor marker studies in all cases of an intracranial germ cell tumor are emphasized by the case study.     

Giant granular cell tumor of the suprasellar area: immunocytochemical and electron microscopic studies

We describe a case of a granular cell tumor (GCT) of the suprasellar region with an 11-year history in a 26-year-old woman. The computed tomographic scan showed a midline, contrast-enhancing, noncalcified mass. The biopsy was diagnosed as GCT. The tumor was treated with radiation therapy. At necropsy, a large, homogeneous GCT surrounded by gliosis was found. The tumor cells were filled with granules positive for periodic acid-Schiff, diastase-resistant. The cells did not contain glial fibrillary acidic protein or S-100 protein. Electron microscopy showed tumor cells filled with innumerable lysosomal structures. No intermediate filament was found within the cytoplasm. The tumor cells were not surrounded by a basement membrane. Based on this study and on our review of the literature, the suggestion that GCT has a multicellular origin is upheld.     

Malignant rhabdoid tumours of the small intestine with multiple organ involvement: Case report

Introduction and importanceMalignant rhabdoid tumours (MRTs) were first described as an infrequent variant of Wilms’ tumour and have been reported in several organs. The small intestine is a rare site for MRTs.Case presentationA 70-year-old man presented with appetite loss and melena. Haemorrhagic small intestinal tumours, swollen mesenteric and paraaortic lymph nodes, a tumour in the left kidney, and multiple tumours in the lung were found. He underwent partial resection of two haemorrhagic small intestinal tumours classified as MRTs based on the results of a pathological examination. However, melena appeared again on postoperative day 6. We performed another operation and resected approximately 180 cm of the small intestine that contained multiple tumours. All lesions were classified as MRTs. Unfortunately, melena appeared again 4 days after the second operation. He did not want invasive therapy and died from massive melena 2 months after the initial surgery.Clinical discussionMRTs of the small intestine are uncommon and have an extremely poor prognosis. Although curative resection is an important treatment, cases of metastasis at diagnosis and postoperative early recurrence have been observed, as was the case for the patient described herein. In these cases, effective systemic therapy is necessary. Recently, tumour suppressor genes were shown to be involved in the occurrence of MRT, and new therapies for MRT have been studied.ConclusionWe herein conclude effective systemic therapy is necessary for MRTs with multiple organ involvement. The development of new drugs for this disease is ongoing.     

A case of suprasellar hemangioblastoma with thoracic meningioma

Supratentorial hemangioblastoma is encountered very rarely, with only about 110 cases reported. This report concerns a case of a suprasellar hemangioblastoma associated with thoracic meningioma. A 62-year-old man was admitted with visual disturbance of the left eye. T2-weighted magnetic resonance imaging (MRI) showed a high signal intensity mass in the suprasellar region without perifocal edema. T1-weighted MRI with gadolinium showed a homogeneously enhanced mass. The angiogram revealed remarkable tumor staining originating from the right and left internal carotid arteries (ICA) and the left external carotid artery (ECA). On the basis of the pre-operative diagnosis of tuberculum sellae meningioma, total tumor removal was performed. Photomicrographs of the specimen showed numerous capillaries divided by stroma cells. Positive immunostaining for factor VIII related antigen (F VIII RAg) was observed in endothelial cells, but immunostaining for epithelial membrane antigen (EMA) was not observed in any cells. A diagnosis of suprasellar hemangioblastoma was made on the basis of these findings. The patient suffered paraparesis on the postoperative seventh day. Since MRI showed a thoracic tumor, a second total tumor removal was performed. The tumor was diagnosed as a meningothelial meningioma. The patient was discharged without evidence of new neurological deficits. Our experience shows that, when a mass is vascularized in the cerebral hemisphere, the possibility of hemangioblastoma needs to be taken into consideration.     

Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: Lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype

Immunohistochemical lack of nuclear INI1 protein expression has been recently described as characteristic finding in atypical teratoid/rhabdoid tumors (AT/RTs), and has been suggested as useful marker to distinguish AT/RTs from other malignant pediatric central nervous system (CNS) tumors. In this study, we examined a large series of malignant pediatric CNS tumors to determine the immunohistochemical expression of INI1 protein in different malignant pediatric tumor entities. Archival paraffin-embedded biopsy specimens of 289 malignant pediatric CNS tumors including medulloblastomas, supratentorial primitive neuroectodermal tumors, glioblastomas, anaplastic astrocytomas, anaplastic ependymomas, choroid plexus carcinomas, germ cell tumors, and AT/RTs were analyzed immunohistochemically for expression of nuclear INI1 protein. Positive INI1 staining was observed in 263 tumors. Lack of INI1 protein was detectable in 26 tumors. Seventeen of the 26 tumors showed morphologically characteristic features of AT/RTs, whereas 9 embryonal tumors did not display rhabdoid features. Tumors without rhabdoid phenotype but lack of INI1 showed an aggressive clinical course and poor response to conventional treatment regimens. In summary, immunohistochemical expression of INI1 protein is lacking in tumors displaying characteristic morphologic features of AT/RT. Furthermore, a certain number of embryonal tumors without rhabdoid features but lack of INI1 protein and aggressive biologic behavior can be detected. We conclude that INI1 protein analysis should be routinely performed in all malignant pediatric embryonal CNS tumors to detect cases with lack of INI1 protein, because patients with these tumors are likely to benefit from intensified treatment.     

A case of suprasellar tumor associated with so-called atypical angina pectoris]

A case of suprasellar tumor associated with so-called atypical angina pectoris was reported. A 58-year-old man was admitted to our hospital on Feb. 2, 1973, because of headache, disturbance of visual field and the attack of chest pain. He had been suffering from disturbance of visual field for about 3 years and the attack of chest pain for about 4 months prior to admission. Neurological findings on admission were bitemporal hemianopia, decreased visual acuity and atrophy of the optic disc. Bilateral carotid angiography showed upward displacement of A1 portion of the anterior cerebral artery. Pneumoencephalography demonstrated defect of the anterior part of the third ventricle. Laboratory examination showed hypopituitalism. On March 26, 1973, Right frontal craniotomy was performed under the diagnosis of suprasellar tumor. The walnut-sized tumor was detected in the suprasellar region and removed totally. Histological examination showed dermoid cyst. With regard to the attack of chest pain, the selective coronary angiography was performed. But organic change was not detected and Master's two step test did not induce any pathological finding in EEG. So we made a diagnosis of so-called atypical angina pectoris. There are many arguments about pathogenesis of so-called atypical angina pectoris. There is no organic change of the heart of attention now. Recently it is said that so-called atypical angina pectoris is closely connected with paradoxical sleep. We recognized dysunction of the autonomic nervous system through various examinations. The hypothalamus was displaced upward by a suprasellar tumor in this case. After removal of the suprasellar tumor, the frequency of the attack of chest pain was decreased. The atypical angina pectoris in the presented case may be considered to consequence of distrubance of the hypothalamic function.