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J Rosai

Publications and source records attributed to J Rosai.

At least 19 recordsLinked to original sources
PubMed1995

Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT1 gene fusion of desmoplastic small round cell tumor.

Desmoplastic small round cell tumor is a recently recognized distinctive tumor shown to be associated with a recurrent translocation, t(11;22)(p13;q12), and rearrangement of the genes for Ewing sarcoma (EWS) and Wilms tumor (WT1). A genomic DNA fragment containing the EWS-WT1 gene fusion has been isolated from a desmoplastic small round cell tumor, and the breakpoint has been characterized. The breakpoints involve the intron between EWS exons 7 and 8 and the intron between WT1 exons 7 and 8. Chimeric transcripts corresponding to the fusion gene were detected in four of six cases studied. Analysis of these transcripts show an in-frame fusion of RNA encoding the amino-terminal domain of EWS to both alternatively spliced forms of the last three zinc fingers of the DNA-binding domain of WT1. Desmoplastic small round cell tumor represents the third tumor type associated with translocation of EWS and the first tumor associated with consistent translocation of WT1. The chimeric products are predicted to modulate transcription at WT1 target sites and contribute to development of this unique tumor.

Abdominal Neoplasms↗
PubMed1995

Thymoma: a multivariate analysis of factors predicting survival.

BACKGROUND: Despite complete surgical excision, malignant thymomas often recur with resultant death. We reviewed our series to determine which factors independently predict survival after surgical resection. METHODS: A retrospective analysis of patients operated on for thymoma between 1949 and 1993 at Memorial Sloan-Kettering Cancer Center was performed. Clinical data were collected from chart review. Only patients with a pathology report confirming the diagnosis of thymoma were included in this analysis. Kaplan-Meier survival curves were generated and comparisons of survival analyzed by log rank test. Multivariate analysis was performed by the Cox proportional hazard model. RESULTS: One hundred eighteen patients with thymoma underwent operation. There were 86 complete resections (73%), 18 partial resections (15%), and 14 biopsies (12%). By Masaoka staging, 25 patients were stage I (21%), 41 stage II (35%), 43 stage III (36%), and 9 stage IVa (8%). Overall survival was 77% at 5 years and 55% at 10 years. Tumor recurred in 25 (29%) of 86 completely resected thymomas. Stage of disease (p = 0.03) was the only independent prognostic factor affecting recurrence. By multivariate analysis, stage (p = 0.003), tumor size (p = 0.0001), histology (p = 0.004), and extent of surgical resection (p = 0.0006) were independent predictors of long-term survival. CONCLUSIONS: Patients with stage I disease require no further therapy after complete surgical resection. Neoadjuvant therapy should be considered for patients with large tumors and invasive disease.

Combined Modality Therapy↗
PubMed1995

Aggressive angiomyxoma in males. A report of four cases.

Aggressive angiomyxoma (AAM) is a rare, locally infiltrative but nonmetastasizing tumor of the pelvic and perineal soft tissues that occurs almost exclusively in adult females. The authors describe four cases of AAM in adult males that arose in the scrotum. There was some histologic variation among the tumors. One case was focally hypercellular around the blood vessels, two were more densely cellular throughout, and one had cystic degeneration. Three of the tumors were widely infiltrative, and one of the four tumors recurred locally. The clinicopathologic features of these cases are similar to those of AAM occurring in females. In either sex, AAM should be distinguished from benign myxoid tumors with a low risk of local recurrence and fully malignant myxoid tumors with distant metastatic potential.

Adolescent↗
PubMed1995

Desmoplastic small round cell tumor of the pleura.

Three cases of desmoplastic small round cell tumor (DSRCT) with multiphenotypic differentiation, primary in the pleura, are presented. This is a previously unrecognized site for this tumor type. Two patients were male and one female aged 29, 24, and 17 years. All presented with chest pain and were found to have pleural-based tumors associated with pleural effusion. Abdominal involvement was not present in any of the cases. Histologically, the tumor showed the characteristic features of intra-abdominal DSRCT, including angulated nests of small cells embedded in a vascular fibroblastic stroma, focal rhabdoid phenotype, and areas of central necrosis. The neoplastic cells showed evidence of epithelial, mesenchymal, and neural differentiation with characteristic dot-like positivity for vimentin and desmin topographically corresponding to perinuclear aggregates of intermediate filaments identified on electron microscopy in one case. Two patients died of disease 2 years and 15 months after presentation, respectively, and one patient is alive with disease 18 months after presentation. The histogenesis of DSRCT is unknown. Most previously reported cases involved the peritoneum or tunica vaginalis, suggesting a histogenetic relationship to the mesothelium. The occurrence of these tumors in the pleura lends further support to this theory.

Adolescent↗
PubMed1995

Liposarcoma of the anterior mediastinum and thymus. A clinicopathologic study of 28 cases.

We studied 28 cases of anterior mediastinal liposarcoma occurring in 16 males and 12 females with a mean age of 43 years (range, 14-72). Presenting symptoms included dyspnea (four cases) and chest pain (four cases), although 11 tumors were detected incidentally by routine chest radiography. Seven cases were believed to be located within the thymus. Most (i.e., 25) of the cases were of low grade, with the well-differentiated lipoma-like or sclerosing subtypes constituting 60% and the myxoid subtype constituting 28%; the remaining 12% exhibited mixed features. Three cases were pleomorphic type. Several low-grade tumors exhibited widespread, dense aggregates of mature-appearing lymphocytes and plasma cells, which occasionally obscured the mesenchymal nature of the neoplasm, suggesting instead a lymphoid neoplasm or a reactive fibroinflammatory condition. The three high-grade tumors showed combinations of pleomorphic and round cell patterns, with focal myxoid areas. Of the cases grossly arising within the thymus, only one showed extensive thymic tissue within the lesion ("thymoliposarcoma"); six others exhibited residual thymus peripheral to the tumor. Clinical follow-up in 23 cases revealed recurrence in seven patients (31.8%), with a mean interval to recurrence of 3 years. Eight patients died (mean survival, 2.6 years), one postoperatively and three following a recurrence. Fifteen patients were alive (mean survival, 2 years), four with recurrent tumor. The myxoid tumors had a somewhat more aggressive course than the well-differentiated tumors. Metastases were not observed in any of the patients.

Adolescent↗
PubMed1995

Carcinoma of the thymus with clear-cell features. Report of eight cases and review of the literature.

We report eight cases of thymic carcinoma with clear-cell features and review the five previously reported cases. The tumor was composed of cells with clear cytoplasm and rather bland nuclear features, and showed a lobular or occasionally sheet-like growth pattern. Cytoplasmic glycogen was demonstrable in 92% of cases, whereas mucin was absent in all cases tested. The tumor cells were uniformly immunoreactive for low- and high-molecular-weight keratins and were reactive for epithelial membrane antigen in 22% of cases. The differential diagnosis includes mediastinal seminoma, parathyroid carcinoma, and metastatic clear-cell carcinoma. The diagnosis of primary thymic carcinoma depends on the exclusion of other primary sites clinically, particularly lung and kidney, and the demonstration of postivity for keratins and negativity for placental alkaline phosphatase. Thymic carcinoma with clear-cell features behaves as a high-grade thymic carcinoma: including our cases and the previously reported cases, nine of 13 patients (69%) are either dead of disease or have persistent disease at the latest follow-up. The importance of this entity is recognition of its aggressive clinical behavior and its distinction from other primary and metastatic clear-cell neoplasms of the mediastinum.

Adult↗
PubMed1995

Diffuse idiopathic pulmonary neuroendocrine cell proliferation presenting as interstitial lung disease.

Pulmonary neuroendocrine cell (PNEC) hyperplasia typically occurs as an adaptive response in persons living at high altitudes and as a reactive response in the setting of lung injury. However, previous studies suggest that PNEC hyperplasia can occur in the absence of preexisting lung disease and may even give rise to airway disease through the development of pulmonary tumorlets and airway fibrosis and perhaps the release of paracrine secretions. We describe a patient with diffuse PNEC proliferation of a probable hyperplastic nature developing in the absence of a chronic pulmonary disorder who presented clinically with an interstitial lung process. Open lung biopsy displayed a florid intraepithelial population of PNEC diffusely involving the distal airways and alveoli with desquamation and filling of alveolar spaces by nests of PNEC. The presence of alveolar thickening was attributable to the intraepithelial proliferation of PNEC associated with interstitial fibrosis and accounted for mild reductions in the pulmonary diffusing capacity. The neuroendocrine differentiation of this proliferation was evident by light microscopic and ultrastructural examination. The absence of airway fibrosis and pulmonary tumorlets was in agreement with the lack of clinical airway disease in this case. The intraepithelial growth and absence of parenchymal invasion in this lesion favor a diffuse, florid PNEC hyperplasia with mild dysplastic features over a pulmonary neuroendocrine neoplasm.

Aged↗
PubMed1995

Detection of circulating tumor cells in patients with localized and metastatic prostatic carcinoma: clinical implications.

PURPOSE: To determine the frequency with which prostate-specific antigen (PSA)-positive cells can be detected in the peripheral blood of patients with prostatic cancer in different stages and with different sensitivities to hormonal therapy. PATIENTS AND METHODS: Peripheral blood from 107 men with prostatic cancer and 27 non-prostate cancer controls was analyzed for PSA mRNA using reverse-transcriptase polymerase chain reaction (RT-PCR) and Southern blotting. RESULTS: The lower limit of detection was one PSA-producing cell diluted into 1 x 10(6) blood mononuclear cells. The test detected PSA mRNA in four of 25 patients (16%) with clinically organ-confined (T1-2) disease, three of 10 (30%) with T3-4 or N+ tumors, and 25 of 72 (35%) with distant metastases. None of the control samples were positive. An increase in positivity was observed with increasing PSA levels. Within the subgroup of patients with distant metastases, positivity was observed in six of 16 patients (38%) with normal or undetectable PSA levels after hormonal therapy and, overall, in 37% of patients (21 of 57) with androgen-independent disease. CONCLUSION: An RT-PCR-based assay for PSA mRNA can detect circulating cells in the peripheral blood of patients with prostatic cancer. The frequency of positivity increases with tumor stage. A unique observation was the detection of cells in patients with no measurable PSA on hormonal therapy. This suggests that continued seeding of distant sites may still be occurring in these patients, despite seemingly successful therapy. The relationship between continued seeding, disease progression, and survival will require further study.

Base Sequence↗
PubMed1995

Detection of chimeric transcripts in desmoplastic small round cell tumor and related developmental tumors by reverse transcriptase polymerase chain reaction. A specific diagnostic assay.

Desmoplastic small round cell tumor is a recently described entity associated with fusion of the EWS and WT1 genes and with expression of a chimeric transcript. To investigate the structure and potential diagnostic utility of the detection of EWS-WT1 chimeric RNA in desmoplastic small round cell tumor, 12 examples of this entity and 49 other tumors that enter in its differential diagnosis were studied by reverse transcriptase polymerase chain reaction for the presence of EWS-WT1, EWS-FLI-1, PAX3-FKHR, and PAX7-FKHR chimeric transcripts. EWS-WT1 was detected in 11 of 12 desmoplastic small round cell tumors but not in any other tumor type studied, including 17 Wilms' tumors, 10 Ewing's sarcomas/primitive neuroectodermal tumors, 13 alveolar rhabdomyosarcomas, and 9 embryonal rhabdomyosarcomas. One desmoplastic small round cell tumor was found to have a variant EWS-WT1 chimeric product that included exon 8 of EWS EWS-FLI-1 chimeric RNA was present in all Ewing's sarcoma/primitive neuroectodermal tumor and not identified in any other tumor types, including desmoplastic small round cell tumor. PAX3/PAX7-FKHR chimeras were present in 9 of 13 alveolar rhabdomyosarcomas but not in any other tumors. Detection of chimeric transcripts by reverse transcriptase polymerase chain reaction is a very specific aid in differential diagnosis of developmental tumors and further establishes desmoplastic small round cell tumor as a distinct entity.

Adolescent↗
PubMed1995

Florid vascular proliferation associated with neural and neuroendocrine neoplasms. A diagnostic clue and potential pitfall.

We report the light microscopic and immunohistochemical features of vascular proliferations associated with 26 extracranial neural and neuroendocrine neoplasms including esthesioneuroblastoma, neuroblastoma/ganglioneuroblastoma, the primitive neural component of immature teratoma, mediastinal teratoma, primitive neuroectodermal tumor, intra-abdominal desmoplastic small cell tumor, Merkel cell carcinoma of the skin, and thyroid medullary carcinoma. These vascular proliferations were similar to those associated with high-grade glial neoplasms and were characterized by tufts of vessels with a glomeruloid configuration or by long cords of vessels. Immunohistochemical evaluation documented the presence of endothelial cells, perithelial cells, and basement membrane components within the foci of proliferating vessels. We propose that these vascular proliferations represent a characteristic feature of the neuroendocrine/neural neoplastic phenotype and that they possibly arise as the result of angiogenic factors produced by the neoplastic cells. The presence of these distinctive vascular lesions in the stroma of a poorly differentiated neoplasm should alert the pathologist to the possibility of the neoplasm being of a neural or neuroendocrine nature.

Esthesioneuroblastoma, Olfactory↗
PubMed1995

Nodular spindle-cell vascular transformation of lymph nodes. A benign process occurring predominantly in retroperitoneal lymph nodes draining carcinomas that can simulate Kaposi's sarcoma or metastatic tumor.

We describe a vasoproliferative nodular spindle-cell lesion representing a variant of vascular transformation of lymph-node sinuses and designated a nodular spindle-cell vascular transformation of lymph nodes. The lesion is most frequently identified in retroperitoneal lymph nodes excised in association with radical nephrectomies for renal cell carcinoma, but it can also be present in association with other malignant tumors. Occasionally it is seen in superficial lymph nodes in patients with no history of malignant neoplasms. This lesion can be confused with Kaposi's sarcoma or with a metastatic sarcomatoid carcinoma because of its spindle-cell composition, cellularity, occasional high mitotic activity, and frequent occurrence in the regional lymphatic drainage of a known malignancy.

Adult↗
PubMed1994

Solitary fibrous tumor. Consistent CD34 immunoreactivity and occurrence in the orbit.

The distinction of solitary fibrous tumors (SFTs) from histologically similar neoplasms relies heavily on a characteristic microscopic appearance. No discriminating ultrastructural or immunohistochemical features are known. We evaluated 22 SFTs and 118 other tumors often considered in the differential diagnosis for immunoreactivity using a monoclonal antibody directed against the human hematopoietic progenitor cell antigen, CD34. All the SFTs (22 of 22, 100%) demonstrated strong CD34 immunoreactivity, irrespective of tumor site and histologic grade. Strong and generalized CD34 positivity was also found in most dermatofibrosarcoma protuberans (11 of 12, 92%) and occasional smooth-muscle tumors (leiomyomas 2 of 11, 18%; leiomyosarcomas 2 of 11, 18%). Variable numbers of CD34 positive cells were present in all neurofibromas (9 of 9, 100%) and focally present in most schwannomas (8 of 9, 89%). Some of the hemangiopericytomas (7 of 16, 44%) exhibited CD34 immunoreactivity, however, generally with weak intensity and patchy distribution. CD34 immunoreactivity was not observed in mesotheliomas (0 of 20, 0%), synovial sarcomas (0 of 13, 0%), fibrosarcomas (0 of 12, 0%), or spindle-cell thymomas (0 of 5, 0%). We conclude that CD34 immunoreactivity is a sensitive marker for SFT and, in conjunction with an appropriate immunohistochemical panel, may be useful in discriminating SFTs from other histologically similar neoplasms. The observation that some mesenchymal stromal cells and SFTs share a CD34-positive immunophenotype suggests a histogenetic relationship. The inclusion in this study of two cases of SFTs arising in the orbit establishes another site of origin for this tumor and provides further support for a mesenchymal histogenesis.

Antibodies, Monoclonal↗
PubMed1992

Cystic thymomas. A clinicopathologic study of ten cases.

Cystic degeneration in thymoma is a relatively frequent but focal event. In rare cases, the process proceeds to the extent that most or all of the lesion becomes cystic. The authors studied ten cases of thymoma undergoing cystic degeneration of such degree that the lesions initially were mistaken grossly and microscopically for nonneoplastic thymic cysts. The patients' ages ranged from 23 to 81 years, and the sex distribution was equal. The lesions were characterized by the formation of multiple large cystic cavities filled with clear, hemorrhagic or grumose material. Histologically, residual solid islands showing the characteristic features of thymoma, i.e., biphasic cell population (epithelial cells/lymphocytes), perivascular spaces, and areas of medullary differentiation, were present within the cyst walls. In contrast with nonneoplastic thymic cysts, the walls of the cavities generally were devoid of an epithelial lining; most of the cysts appeared to predominantly result from extreme dilatation and confluence of perivascular spaces. In some instances, the cystic degeneration of the tumor was accompanied by cystic changes of an inflammatory nature in the surrounding, nonneoplastic thymic tissue leading to firm adhesions and apparent infiltration of adjacent mediastinal structures. None of the lesions in the studied patients recurred during follow-up periods of from 2 to 10 years (average follow-up, 5 years). Cystic thymomas should be distinguished from nonneoplastic congenital and acquired thymic cysts and other primary thymic neoplasms undergoing extensive cystic degeneration. It is important not to misinterpret the apparent infiltration of surrounding mediastinal structures that results from the inflammatory changes that often accompany these tumors as evidence of aggressive or malignant behavior.

Adult↗
PubMed1992

Thymomas presenting as pleural tumors. Report of eight cases.

Eight cases of thymomas presenting as pleural-based lesions are presented. The patients are five men and three women between the ages of 38 and 71 years (mean 54.5). Histologically, six tumors showed morphologic features indistinguishable from classical mediastinal thymomas, namely lobulation produced by fibrous bands and a biphasic cell population composed of epithelial cells admixed with small lymphocytes. One case showed prominent spindle cell configuration and marked vascularization resulting in a hemangiopericytomalike appearance; in another case, the epithelial component was associated with cystic structures. The radiographic findings were diffuse pleural thickening with encasement of the lung in four cases; an ill defined mass involving the right diaphragmatic pleura with engulfment of the left lower lobe in one case; diffuse pleural thickening along the mid lateral axillary line in one case; and left-sided pleural masses involving the diaphragmatic and chest wall pleural surfaces in another. In the remaining case, a massive unilateral left pleural effusion obscured the underlying lesion. Clinically, the patients presented with varied symptoms, including shortness of breath, fever, and weight loss. Follow-up information was obtained in four patients. One patient died 1 month after initial diagnosis, but no details of the cause of death were available. Another had metastasis to the groin 1 year after diagnosis. The other two patients were alive and well 2-10 years after the initial diagnosis.

Adult↗
PubMed1992

Primary vascular tumors of lymph nodes other than Kaposi's sarcoma. Analysis of 39 cases and delineation of two new entities.

Primary vascular tumors of lymph nodes other than Kaposi's sarcoma are very rare, as attested to by only a handful of case reports in the literature. Based on an analysis of 39 such cases, we could distinguish five major groups. Hemangiomas of capillary/cavernous, lobular capillary, and cellular types were composed of compact aggregates of blood-filled vessels, variable in size, that replaced the nodal architecture partly or almost completely; some appeared to have originated in the hilum or medulla. These hemangiomas either represented incidental findings in lymph nodes or were seen with solitary lymph node enlargement; the evolution was benign with no recurrence. A distinctive benign lesion occurring exclusively in inguinal lymph nodes, which we propose designating "angiomyomatous hamartoma," showed replacement of the nodal parenchyma by smooth muscle cells and fibrous tissue, in continuity with exuberant proliferation of muscular vessels in the hilum. Epithelioid vascular tumors, characterized by plump endothelial cells with dense eosinophilic cytoplasm and numerous vacuoles, exhibited a range of differentiation, from hemangioma with well-formed vascular channels (with or without tissue eosinophilia) to hemangioendotheliomas composed predominantly of cords and sheets of tumor cells lying in a hyaline-myxoid matrix. Epithelioid hemangioendothelioma was particularly likely to be mistaken for metastatic carcinoma, and local recurrence could occur. A variant, the spindle and epithelioid hemangioendothelioma, was characterized by the presence of an additional component of spindle cells. Another tumor we found, polymorphous hemangioendothelioma, is a previously uncharacterized borderline malignant vascular tumor exhibiting solid, primitive vascular and angiomatous patterns and relatively bland cytologic features. Lymphangiomas of lymph nodes usually showed simultaneous multifocal and extra-nodal involvement and were characterized by cystic endothelium-lined spaces filled predominantly with lymph fluid. It is important to recognize these primary vascular tumors of lymph nodes to avoid mistaking them for a variety of benign vasoproliferative lesions, Kaposi's sarcoma, angiosarcoma, and metastatic cancer.

Adolescent↗
PubMed1992

Neuroendocrine carcinoma within lymph nodes in the absence of a primary tumor, with special reference to Merkel cell carcinoma.

We report eight cases of neuroendocrine carcinomas found within inguinal (five cases), axillary (two cases), and submandibular (one case) lymph nodes. The patients underwent extensive investigations, but no primary tumor was found in any case. Although the existence of an occult or regressed primary cannot be ruled out, the possibility of a lymph node origin should be considered on the basis of epithelial inclusions or anomalous carcinomatous differentiation of stem cells of the lymphoreticular system.

Adult↗
PubMed1992

Acinar cell carcinoma of the pancreas. A clinicopathologic study of 28 cases.

We have examined the microscopic appearance, immunohistochemical staining properties, and clinical behavior of 28 cases of acinar cell carcinoma of the pancreas. Two of the tumors occurred in children. The adult patients ranged in age from 40 to 81 years (mean, 62 years). Males greatly outnumbered females, and most of the patients were white. Presenting symptoms were nonspecific, and jaundice was infrequent. The frequently reported complications from increased serum lipase levels (i.e., arthralgias and subcutaneous fat necrosis) were present in only 16% of the patients. Grossly, the tumors were relatively circumscribed and fleshy, averaging 10.8 cm, with occasionally extensive hemorrhage and necrosis. Microscopically, the tumors were very cellular and characteristically lacked a desmoplastic stroma. Acinar, solid, trabecular, and glandular patterns of growth were identified; individual tumors were usually mixed. Nuclei were round to oval, with minimal pleomorphism and single prominent nucleoli. Mitotic activity was variable. In general the cytoplasm was moderately abundant, eosinophilic, and granular, but many of the solid tumors had cells with scanty cytoplasm. Characteristic periodic acid-Schiff-positive, diastase-resistant cytoplasmic granules were demonstrated in greater than 90% of the cases, and the butyrate esterase histochemical stain for lipase activity was positive in 73%. Immunohistochemically, there was positivity for trypsin in 100% of the cases, for lipase in 77%, for chymotrypsin in 38%, and for amylase in 31%. A minor endocrine component was recognized with antibodies against chromogranin or islet cell hormones in 42% of the tumors. Ultrastructurally, exocrine secretory features were present, with polarized cells showing microvillilined lumina, abundant rough endoplasmic reticulum, and 125-1,000-nm zymogen-like granules. In addition, many cases showed pleomorphic electron-dense granules measuring up to 3,500 nm and containing fibrillary internal structures. Follow-up information was available in 88% of the cases. Half of the patients had metastatic disease at presentation and an additional 23% subsequently developed metastases, which were usually restricted to the regional lymph nodes and liver. The mean survival for all cases was 18 months, with 1- and 3-year survivals of 57 and 26%, respectively. Patients presenting before age 60 years survived nearly twice as long as older patients did. Stage also influenced prognosis, whereas the histologic subtype of the tumors and the location within the pancreas correlated only weakly with survival.

Adult↗