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1.
Amplification of MYCN portends rapid tumor progression and poor prognosis in neuroblastoma. MYCN copy number has been described as homogeneous within a tumor and congruent in primary tumor and metastasis. We report a child with stage III favorable histology stroma-rich neuroblastoma (ganglioneuroblastoma) and a poor outcome with an apparent change in MYCN gene amplification by Southern blot. Initial biopsy revealed a ganglioneuroblastoma with predominance of differentiating cells designated as neuroblastoma, stroma-rich, intermixed (Shimada). Southern blot failed to demonstrate MYCN gene amplification. After front-line chemotherapy failed, a total resection was performed. In this specimen, Southern blot demonstrated MYCN amplification (15-20 copies) in the undifferentiated component and no amplification in the differentiated. Fluorescence in situ hybridization (FISH) analysis performed retrospectively on both tumor biopsies demonstrated MYCN amplification in the undifferentiated sections of both tumor specimens but not in the differentiated ones. This is the first well-documented case report of heterogeneous MYCN amplification in a child with neuroblastoma. Because key therapeutic decisions are based on the presence of MYCN amplification, physicians diagnosing and treating children with neuroblastoma need to be aware of the possibility that MYCN amplification may be heterogeneous within a tumor and may be missed using techniques based on pooled DNA such as Southern blotting. FISH may be a preferable method for determining MYCN amplification.  相似文献   

2.
A case of malignant rhabdoid tumor of the vulva in a 25-year-old female was examined. The patient presented with a subcutaneous nodule in the left labium majus. Smears of the material obtained by percutaneous fine-needle aspiration demonstrated clusters of atypical cells with prominent nucleoli. The tumor measured 6 x 5 x 5 cm and appeared tan to brown on the cut surface and partly cystic. Pathological findings obtained from intraoperative frozen tissue sections had been originally interpreted as rhabdomyosarcoma. Light microscopic examination revealed that polygonal tumor cells having vesicular nuclei with prominent nucleoli were arranged in sheets and the great majority of the tumor cells contained an eosinophilic globular paranuclear cytoplasmic inclusion. Ultrastructurally, this cytoplasmic inclusion corresponds to whirls of intermediate filaments. Vimentin immunoreactivity was detected in both the cytoplasm and cytoplasmic inclusion of almost all the tumor cells. No cytokeratin and desmin immunoreactivity were detected in the tumor cells. The Ki-67 labeling index was 36% and the DNA content of the tumor cells, which was examined by image cytometry, demonstrated diploidy (DNA index = 0.95).  相似文献   

3.
Pure sarcomas of the uterine cervix are rare; most of those reported have been leiomyosarcomas or rhabdomyosarcomas. Minimal data exists on malignant nerve sheath tumors in this site; only one typical example and one melanocytic example have been reported. We report three additional examples here in three patients 25, 65, and 73 years of age. The two older patients had vaginal bleeding and underwent hysterectomy as initial treatment. The youngest patient initially underwent only polypectomy. The tumors were 1.3, 4.4, and 5.0 cm in greatest dimension. The tumors were red-grey to white: two were polypoid and the third was ulcerated. The dominant microscopic appearance was that of cellular fascicles of spindle cells with hyperchromatic nuclei and eosinophilic cytoplasm. However, hypocellular areas were striking in each case; the hypocellular areas were fibromatous in two tumors and two had areas with a myxoid stroma (prominent in one). One tumor focally had cellular aggregates with a swirling pattern within a hypocellular background. Epithelioid foci in which tumor cells were rounded with conspicuous eosinophilic cytoplasm were focally prominent in one case. Mitoses were readily identified in each case. All three tumors were positive for S-100 protein and vimentin and negative for cytokeratin. HMB-45, and desmin. One case is recent and one patient had multiple metastases in the abdomen 2 years after hysterectomy. The patient treated initially by polypectomy underwent repeat local excision, followed by cone biopsy with positive margins, and then hysterectomy. She is clinically free of disease 15 months after diagnosis. Although the diagnosis of malignant schwannoma was suggested by the histologic features of the tumors, other diagnoses were entertained and immunohistochemistry was crucial in confirming the diagnosis. These tumors should be distinguished from other malignant spindle cell tumors of the cervix, such as leiomyosarcoma, endocervical "stromal sarcoma," and spindle cell melanoma, so their features, behavior, and optimal therapy can be further delineated.  相似文献   

4.
To determine whether interleukin-1 beta converting enzyme (ICE) plays a role in the programmed cell death of neuroblastoma, we studied ICE expression in primary tumours. In patients in stages I, II and IVS, ICE mRNA was detected in 22 of 32 (69%) tumours, while only 5 of 26 (19%) tumours expressed ICE in stages III and IV (P < 0.001). ICE mRNA was expressed in 27 of 47 (57%) tumours without MYCN amplification, but it was not detected in any tumours with MYCN amplification (P < 0.01). Immunohistochemically, the cytoplasm was stained in all 15 neuroblastomas examined. The nuclei were stained in 12 neuroblastomas without MYCN amplification, whereas only 1 of 3 tumours with MYCN amplification had positive staining in the nuclei. In ganglioneuromas, high levels of ICE mRNA were expressed, but immunostaining showed that the protease expression was confined to the cytoplasm. These observations suggest that ICE may be associated with the spontaneous regression often seen in favourable neuroblastomas and that localisation of ICE protease in the cell may be important for the cell death pathway. Double staining for ICE and TUNEL showed that they were co-localised in some nuclei, but the distribution of ICE protease expression was not necessarily the same as that of DNA fragmentation, suggesting that the protease expression probably preceded DNA fragmentation during the apoptotic process. ICE may play an important role in regulating the apoptotic process of neuroblastoma.  相似文献   

5.
OBJECTIVE: To describe the characteristic cytologic features of fine needle aspirates (FNAs) of primary extragonadal germ cell tumors (PEGCTs). STUDY DESIGN: Thirteen patients with PEGCTs, including 2 seminomas, 2 mixed germ cell tumors, 3 immature teratomas, 1 choriocarcinoma and 5 yolk sac tumors (YSTs) were studied. The final diagnosis of PEGCT in all cases was established by histologic examination of the tumor tissues. Fine needle aspiration was done on either the primary tumor or metastatic foci. The aspirates were stained with one of the Romanovsky stains and Papanicolaou stain. RESULTS: Each type of PEGCT has its own morphologic characteristics. In seminoma, the tumor cells are large and noncohesive, with one to several distinct nucleoli; some lymphocytes are also present. YSTs show many pleomorphic cells with vacuoles in the cytoplasm and nuclei; tumor cells frequently aggregate in a microglandular or papillary pattern. Choriocarcinoma consists of syncytiotrophoblasts and cytotrophoblasts. The former are very large cells with eosinophilic cytoplasm, one to several nuclei and distinct nucleoli; the latter are medium-sized cells with vacuolated, basophilic cytoplasm and eccentric nuclei. Immature teratomas are composed of a mixture of cell types, including elongated epithelioid cells, mesenchymal cells and many large, naked, amorphous nuclei with a homogeneous chromatin pattern. Diagnosis of mixed germ cell tumor is difficult but can be made if two or more subtypes of tumor cells are observed in the FNA. CONCLUSION: Cytologic examination of FNAs of primary or metastatic lesions of PEGCTs, stained either with Romanovsky or Papanicolaou stain, is of diagnostic value for such diseases. The use of immunochemistry can help to confirm the cytologic impression.  相似文献   

6.
The murine brain fatty acid binding protein (B-FABP) is encoded by a developmentally regulated gene that is expressed in radial glial cells and immature astrocytes. We have cloned the human B-FABP gene and have mapped it to chromosome 6q22-23. We show that B-FABP mRNA is expressed in human malignant glioma tumor biopsies and in a subset of malignant glioma cell lines, as well as in human fetal retina and brain. Malignant glioma tumors are characterized by cytoplasmic bundles of glial fibrillary acidic protein (GFAP), a protein normally expressed in mature astrocytes. Establishment of malignant glioma cell lines often results in loss of GFAP. The subset of malignant glioma cell lines that express GFAP mRNA also express B-FABP mRNA. Co-localization experiments in cell lines indicate that the same cells produce both GFAP and B-FABP. We suggest that some malignant gliomas may be derived from astrocytic precursor cells which can express proteins that are normally produced at different developmental stages in the astrocytic differentiation pathway.  相似文献   

7.
BACKGROUND: Gastrointestinal stromal tumors (GISTs) encompass a large group of mesenchymal neoplasms that display common cytologic spindle-shaped morphology on light microscopy. Immunocytochemical and ultrastructural studies can demonstrate several patterns of differentiation. CASE: A 70-year-old male presented with two intraabdominal small bowel masses. The cytopathologic features of a fine needle aspiration biopsy (FNAB) included plump spindle cells in densely populated aggregates or in a fasciculated pattern, without significant pleomorphism. An epithelioid component in a lobular arrangement with abundant, eosinophilic cytoplasm was also noted. The nuclei were vesicular, with a very evident, eosinophilic nucleolus and finely distributed chromatin. Groups of loosely cohesive cells with slender, dendritic-like cytoplasm were evident. Immunocytochemical study of the embedded, fine needle aspirated fragments of the neoplasm demonstrated immunoreactivity for vimentin and neuron-specific enolase. Cytokeratin immunoreactivity or muscular, vascular, neuroendocrine or nerve sheath differentiation failed to be demonstrated. The cytologic and immunocytochemical findings correlated well with the histologic features of the neoplasm. The morphologic diagnosis was confirmed by ultrastructural study. CONCLUSION: FNAB and immunocytochemistry can be valuable in making the correct diagnosis between gastrointestinal stromal tumors.  相似文献   

8.
BACKGROUND: Males with congenital adrenal hyperplasia may develop bilateral testicular masses in early adult life. These are not malignant and generally regress with corticosteroid therapy. The authors report a case occurring in a 44-year-old man with associated seminoma and myelolipoma in an undescended testis. METHODS: The testicular tumors were analyzed by histologic, flow cytometric, and ultrastructural techniques. RESULTS: The tumors in both testes were comprised of polygonal cells with abundant granular eosinophilic cytoplasm, occasionally with brown (lipochrome) pigment and round nuclei of various sizes with prominent nucleoli. These cells were grouped into nodules by dense and sometimes thick fibrous trabeculae in the right testis. The areas corresponding to the fibrous trabeculae in the left (intraabdominal) testis were replaced by mixture of hematopoietic (myeloid) and fatty tissue in various proportions characteristic of myelolipoma. The left testis also had a well demarcated tumor that was diagnostic of seminoma. Electron microscopy demonstrated abundant smooth endoplasmic reticulum, a moderate number of mitochondria with tubulovesicular cristae, lipid droplets, and lipofuscin granules in the polygonal cells. No Reinke's crystals were observed. The patient received corticosteroids for his adrenocorticoid deficiency and also underwent external beam irradiation to the retroperitoneum for seminoma. CONCLUSIONS: This case illustrates an unusual presentation of a testicular tumor in a patient with the adrenogenital syndrome as well as with myelolipoma and seminoma in a cryptorchid testis. The possibility of an associated neoplasm that could be potentially fatal should be considered whenever a testicular tumor of the adrenogenital syndrome continues to grow despite adequate hormonal treatment.  相似文献   

9.
This report describes the fine-needle aspiration (FNA) cytology of a case of pleuropulmonary blastoma in a 3-yr-9-mo-old male. Pleuropulmonary blastoma is considered by most authors to be distinct from pulmonary blastoma and is a rare malignant tumor of the intrathoracic cavity. FNA smears were cellular with numerous small ovoid to spindled cells with oval to elliptical nuclei exhibiting finely granular chromatin and inconspicuous nucleoli. The cytoplasm was scant and eosinophilic with indistinct borders. Focal chondroid material and blastema-like cells were noted. The differential diagnosis suggested by the cytologic findings included rhabdomysosarcoma, teratoma, neuroblastoma, malignant mesenchymoma, pleuropulmonary blastoma, and metastatic tumor. To our knowledge, this is the first report of the cytology of this tumor.  相似文献   

10.
BACKGROUND: Ectopic cervical thymoma, first described in 1941 by Boman, is an uncommon tumor of the neck displaying the same histologic features as mediastinal thymoma. Since it is commonly located in the anterolateral part of the neck or is subjacent to or inside the lower pole of the thyroid, the mass is often confused as being of thyroid origin. CASE: A 68-year-old female presented with dyspnea and an anterior neck mass found on routine chest roentgenography. The thyroid scan showed a cold nodule in the lower pole of the left part of the thyroid. Fine needle aspiration (FNA) cytology revealed large numbers of small lymphocytes with hyperchromatic nuclei and frequent clumping pattern in the pale, eosinophilic, fluid background. A few clusters of epithelial cells without atypism were interpreted as thyroid follicular cells. The overall cytologic features were misinterpreted as malignant lymphoma of the thyroid. However, the histologic diagnosis was thymoma, predominantly cortical type. CONCLUSION: The ectopic cervical thymoma is sometimes misdiagnosed as Hashimoto's thyroiditis, anaplastic carcinoma and malignant lymphoma of thyroid on FNA cytology or frozen diagnosis due to its rarity. Therefore, the differential diagnosis of a neck mass showing a variable composition of lymphocyte and epithelial component in a pale, eosinophilic, fluid background should also include ectopic cervical thymoma, especially in elderly females.  相似文献   

11.
A case of chromophobe renal cell carcinoma is reported in a 73 year-old man. Light microscopically, the tumor was composed of polygonal cells with a slightly eosinophilic and a fine reticular pattern, and a reaction of the cytoplasm with Hale's acid iron colloid. Ultrastructural analysis showed membranous microvesicles within the tumor cells, with degenerated mitochondria. Immunohistochemical profile against intermediate filaments was positive to cytokeratin 18 and negative against vimentin. Flow cytometry and cytogenetics revealed a predominant hypertriploid population. Few cases have been published with flow cytometry and cytogenetic findings. We report a new case.  相似文献   

12.
The human CD44 cell surface glycoprotein has been involved in a variety of functions including lymphocyte homing, extracellular cell matrix attachment, and tumor metastasis. Due to the alternative splicing of the single gene, a large family of different variants or isoforms is generated. Several reports have indicated an up-regulation of CD44 variant (v) isoforms in malignant process, conferring metastatic potential to non-metastatic cells. Neuroblastoma is a tumor characterized by an aggressive and metastatic behavior in advanced stages with amplification of the MYCN protooncogene. In this report we show that the CD44 standard molecule is highly expressed in 100% of stage I-III, IVs neuroblastomas and ganglioneuromas but only in a subset of stage IV tumors. In contrast, no expression of CD44 was detected on MYCN amplified stage IV tumors, thus demonstrating a highly significant negative relationship between MYCN amplification and CD44 expression in neuroblastoma. The expression of CD44 on neuroblastoma cultured cell lines was not shown to be related to MYCN amplification but rather linked to the S-type, schwann/glial differentiation lineage. Immunochemical analysis of tumor samples with anti-CD44v3 and -v6 antibodies and Northern blot analysis of mRNA from cell lines with probes spanning exons 4-10 did not reveal any expression of splice variants on neuroblastomas of all stages and cell lines, thus ruling out a major role of these isoforms in neuroblastoma progression and metastasis.  相似文献   

13.
Rat C6 glioma cells are considered to be well characterized, and therefore commonly used as a model system to investigate the function of glial cells. However, recent study has shown that an alteration in the expression of their phenotypic antigens is observed when the cells are maintained under the serum-free conditions, proposing the possibility that various properties of glioma cells can be altered by the growth conditions. To test this possibility, the effects of serum-free culture conditions on the expression of steroid 5alpha-reductase (5alpha-R) type 1 isozyme in glioma cells were examined using immunocytochemical technique. Immunoreactivity of 5alpha-R type 1 was confined to the perinuclear region of glioma cells cultured in serum-containing medium, and observed in the cytoplasmic space as well as the perinuclear region of the cells cultured in serum-free medium. In contrast, serum deprivation failed to affect the expression of phenotypic antigens, glial fibrillary acidic protein (GFAP) and 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNPase). Further studies showed that the expression of cytoplasmic 5alpha-R immunoreactivity induced by serum deprivation was reversible, and might be attributed to removal of serum proteins rather than biologically active small molecules from culture medium. This alteration in the expression of 5alpha-R immunoreactivity is therefore considered to reflect the translocation of the enzyme from the perinuclear region to the cell cytoplasm rather than the induction of cytoplasmic enzyme, and suggest that the culture conditions cause an alteration in the subcellular localization of 5alpha-R type 1 isozyme without phenotypic change of the glioma cell.  相似文献   

14.
OBJECTIVE: To characterize the cytopathology of metastatic malignant melanoma (MM) with "rhabdoid" features, a recently described, rare morphologic variant of MM that can be incorrectly diagnosed in fine needle aspiration (FNA) biopsy. STUDY DESIGN: A retrospective review of all FNA biopsy material with the diagnosis of metastatic MM was performed at two institutions. Only cases with a predominant composition of cells that met criteria defined as "rhabdoid" morphology were selected for study. The cytomorphologic features, immunocytochemistry and clinical features of these cases were reviewed. RESULTS: Of 88 FNA cases previously diagnosed as metastatic MM, 4 (4.6%) had a predominance of cells with rhabdoid features. These cases consisted of scattered atypical cells having enlarged, eccentrically placed nuclei; prominent nucleoli; and a moderate amount of cytoplasm possessing round, globular inclusions in Papanicolaou- and Diff-Quik-stained smears. Immunochemistry showed strong S-100, HMB-45 and vimentin staining in two of four cases. CONCLUSIONS: Metastatic MM may present in FNA biopsy as a poorly differentiated malignancy with rhabdoid features, potentially leading to an incorrect cytologic diagnosis. MM must be considered when evaluating neoplasms with a rhabdoid phenotype. Correlation of the cytologic finding with the clinical history and immunohistochemical studies can help in diagnosing this morphologic variant.  相似文献   

15.
The histologic diagnosis of adult renal epithelial neoplasms with prominent eosinophilic cytoplasm (renal oncocytoma, chromophobe renal-cell carcinoma (RCC), eosinophilic variant of clear-cell RCC, eosinophilic variant of papillary RCC, and collecting duct carcinoma), could be problematic in some cases because of overlapping morphologic features. Precise diagnosis is essential, however, because it often connotes a distinct biologic behavior. Proliferative activity has not been specifically investigated in this spectrum of renal tumors, so we studied the MIB-1 proliferation index in 20 renal oncocytomas, 12 chromophobe RCCs, 9 eosinophilic variants of papillary RCCs, and 13 eosinophilic variants of clear-cell RCCs. Our purpose was to identify the biologic potential of these renal tumors on the basis of MIB-1 tumor proliferation index and to ascertain whether that index had diagnostic value. Overall, nuclear grade correlated with MIB-1 tumor proliferation index (P=.03). The mean proliferation index progressively increased from renal oncocytomas (0.3) to chromophobe RCCs (0.8) to eosinophilic variants of papillary RCCs (2.2) to eosinophilic variants of clear-cell RCCs (4.1) (P=.002). None of the renal oncocytomas or chromophobe RCCs had an index greater than 2, whereas 8 of 13 eosinophilic variants of clear-cell RCCs had an index greater than 2; in 5 of these, it was more than 3. Thus, in the differential diagnosis between renal oncocytoma/chromophobe RCC and eosinophilic variant of RCC, an MIB-1 index of greater than 3 with appropriate morphologic correlation would strongly support the diagnosis of the latter. We also concluded that the progressive increase in MIB-1 tumor proliferation index across the spectrum of granular renal-cell neoplasms parallels the emerging data in the current literature concerning the biologic potential of adult renal epithelial tumors and justifies histologic categorization of adult renal epithelial neoplasms.  相似文献   

16.
This report concerns a malignant glomus tumor, a rare soft tissue tumor that was examined immunohistochemically and ultrastructurally. It occurred in a 44-year-old male patient who had suffered from dull pain and stiffness in the right thigh for 10 months. Radiographic examination revealed a well-defined osteolytic lesion in the diaphysis of the right femur. Hypervascularity of the tumor was observed angiographically. Computed tomographic and magnetic resonance examinations showed an intramuscular mass invading the marrow space of the femur. Wide resection was performed after open biopsy. Histologically, round to polygonal tumor cells revealed a uniform appearance of round to ovoid nuclei with single large nucleoli and slightly eosinophilic cytoplasm, forming solid sheets of cells interrupted by vessels of varying size. A few mitotic figures and vascular invasion were observed. Immunohistochemically, vimentin and alpha-smooth muscle actin were stained intensely, and muscle actin was positive for tumor cells of the perivascular area. Tumor cells were negative for desmin, factor VIII-related antigen, S-100 protein, neurofilament, cytokeratin, and epithelial membrane antigen. Ultrastructurally, tumor cells were characterized by many cytoplasmic processes, pinocytotic vesicles, plasmalemmal dense plaques, and scattered microfilaments in the cytoplasm. Few cell junctions and focal basement membrane-like structures were observed. No recurrence or metastasis was noted 57 months after operation. This case was considered to be a malignant glomus tumor, that is, a glomangiosarcoma arising de novo.  相似文献   

17.
Sixty Sertoli cell tumors of the testis, excluding large cell calcifying and sclerosing subtypes, are described. Patient age ranged from 15 to 80 years (mean, 45 years). The initial manifestation was usually a testicular mass; in 14 cases it had been enlarging slowly for a period of up to 14 years (mean 3.7 years). Only five patients had testicular pain. Four patients had metastatic disease at the time of presentation. All the tumors were unilateral and ranged from 0.3 cm to 15 cm (mean 3.6 cm). They were typically well circumscribed. Sectioning usually disclosed firm, tan-gray, white, or yellow tissue with areas of hemorrhage and a minor cystic component in approximately one third. Microscopic evaluation usually revealed diffuse sheets or large, nodular aggregates of tumor cells, within which solid or hollow, sometimes dilated, tubules and, less often, cords were usually at least focally identifiable. A relatively acellular, often vascular, fibrous to hyalinized stroma was frequently conspicuous. The tumor cells typically had moderate amounts of pale to lightly eosinophilic cytoplasm, but 10 tumors had cells with abundant eosinophilic cytoplasm. Large cytoplasmic vacuoles were prominent in 26 tumors. Nuclear atypicality was absent or mild in 54 cases, moderate in 4 cases, and marked in 2 cases. Mitotic rate ranged from less than 1 to 21 per 10 high power fields, with 50 tumors having no or only rare mitoses. Vascular space invasion was present in 11 cases and was prominent in 8. Follow-up of more than five years (average 8.4 years), or until evidence of metastasis was seen, was available for 16 patients. Nine were alive and well with no evidence of disease. Four were alive with disease and three died of disease. The pathologic features that best correlated with a clinically malignant course were as follows: a tumor diameter of 5.0 cm or greater, necrosis, moderate to severe nuclear atypia, vascular invasion and a mitotic rate of more than 5 mitoses per 10 high power fields. Only one of nine benign tumors for which follow-up data of 5 years or more were available had more than one of these features, whereas five of seven malignant tumors had at least three.  相似文献   

18.
Granular cell tumor (GCT) in the duodenum is an extremely rare disease: only one case has been listed in a review, to date. We reported a 47-yr-old Japanese male case with GCT of the duodenum. Clinically, melena caused by bleeding from the tumor was the only symptom. The tumor cells showed abundant, granular eosinophilic cytoplasm. Although this tumor was clinically and histologically benign, highly developed tumor microvessels were demonstrated both angiographically and histologically, suggesting malignant potential of the tumor.  相似文献   

19.
BACKGROUND: Chondroid syringoma, a tumor of the eccrine glands, was previously called mixed tumor of skin as it has both mesenchymal and epithelial elements. Malignancy in this tumor is extremely rare. Although there are a few reports describing the cytomorphologic features of chondroid syringoma, the cytologic findings of its malignant counterpart have not been described. CASE: A 40-year-old female presented with a recurrent swelling on the scalp of one year's duration. Fine needle aspiration yielded blood-mixed gelatinous material. May-Grünwald-Giemsastained smears showed epithelial cells arranged in cordlike structures and ill-formed glands against a myxomatous background. The epithelial cells had scanty cytoplasm and markedly pleomorphic nuclei with prominent nucleoli. A few cells in the stroma had a halo around them and a resemblance to cartilage cells. A preoperative diagnosis of malignant chondroid syringoma was made. The tumor was excised, and the cytologic diagnosis was confirmed on histopathology. CONCLUSION: Cytomorphologic features of a rare case of malignant chondroid syringoma are reported for the first time. The presence of malignant epithelial cells against a myxoid background with a few chondroid foci helped in making a correct preoperative diagnosis.  相似文献   

20.
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