1/53. Wilms' tumor in the adult--report of a case and review of the literature.Wilms' tumor is rare in adults. Its histology, grading and staging are identical to those in children. Investigators agree on a combined modality approach in the treatment of adult Wilms' tumor (AWT), but differ on how aggressive it should be. Some advocate adopting the current pediatric protocols which take into account tumor stage and grade. Others recommend using advanced disease regimens for all stages and grades. We report on an 18 year-old male with stage IV favorable histology Wilms' tumor. The patient underwent radical nephrectomy and received postoperative radiotherapy with intensive four-drug chemotherapy. He had one relapse after 12 months which was successfully treated with chemotherapy and radiotherapy. He remains in remission without relapses 36 months after the initial diagnosis. The genetics of Wilms' tumor has been well studied in children but is practically unknown in adults; karyotype and molecular genetic studies in this case were normal.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/53. Clinical and molecular features of Ewing sarcoma in a patient with triple-X syndrome.A case of Ewing sarcoma in a 16-year-old girl with 47 XXXc karyotype is reported.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/53. Benign metastasizing leiomyoma: a cytogenetically balanced but clonal disease.Benign metastasizing leiomyoma (BML) is a rare condition, characterized by the occurrence of multiple smooth-muscle nodules, most often located in the lung after previous hysterectomy because of histologically benign appearing leiomyoma. Although the condition resembles a metastatic process, case studies provided evidence that it may be the result of an intravenous leiomyomatosis or an independent and multifocal smooth-muscle proliferation. comparative genomic hybridization and X-chromosome inactivation analysis were used in a case of BML to determine whether pulmonary and uterine tumors are related one to another. A balanced karyotype, previously reported in leiomyomas and an identical X-chromosome inactivation pattern found in all tumorlets, is most consistent with a monoclonal origin of both uterine and pulmonary tumors and the interpretation that pulmonary lesions are metastatic.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/53. cytogenetics, immunostaining for fibroblast growth factors, p53 sequencing, and clinical features of two cases of cystosarcoma phyllodes.BACKGROUND: We present cytogenetics and fibroblast growth factor immunohistochemistry in one case of cystosarcoma phyllodes with localized disease and one with metastatic spread. The p53 gene was sequenced in the malignant case. methods AND RESULTS: Karyotype analysis used trypsin-Giemsa banding. immunohistochemistry of FGF1, FGF2, FGFR1 and p53 used avidin-biotin detection of the primary antibody. One case had a mosaic female karyotype and three clones: one normal, one with trisomy 7, and one with both trisomy 5 and a rearranged chromosome 1. In the second case, a resected pulmonary metastasis had the karyotype 43-47,XX, mar1, mar2[6]/43-46,XX, del(7)(p10)[3], mar2[1][cp3]/46,XX[10]. These tumors expressed FGF1, FGF2, and FGFR1. The malignant case showed immunostaining for p53 protein, but a wild-type gene sequence. CONCLUSION: The karyotype of cystosarcoma phyllodes is complex, with wide case-to-case variation. These tumors express members of the FGF family. Metastatic behavior can occur in the presence of a wild-type p53 gene.- - - - - - - - - - ranking = 3keywords = karyotype (Clic here for more details about this article) |
5/53. Primary pulmonary primitive neuroectodermal tumor (PNET). A case report.We describe a rare case of a primary primitive neuroectodermal tumor (PNET) in the lung of a 17-year-old girl. Grossly, the tumor, located in the right lower lobe, was relatively well-circumscribed and whitish to yellowish in color with scattered hemorrhagic necrosis. Microscopically, the tumor was composed of ovoid to polygonal cells with a high nuclear to cytoplasmic ratio and relatively scant cytoplasm, arranged in solid sheets with intervening fine fibrovascular stroma. Immunohistochemically, the tumor was positive for the MIC2 gene product, whereas AE1/AE3, CAM5.2, and a variety of neuroendocrine markers such as chromogranin a, synaptophysin, and ProGRP, were negative. Three months after the lobectomy, recurrent tumors were noted in the mediastinum and right thoracic wall, and she died despite combined chemotherapy and radiation therapy. In this case cytogenetic analysis showed a hypertriploid karyotype with multiple numerical and structural chromosomal aberrations, but failed to disclose distinct evidence of translocation between chromosome 11 and 22. However, the reverse transcriptase-polymerase chain reaction (RT-PCR) demonstrated EWS/FLI-1 fusion transcripts, confirming the histopathologic diagnosis of PNET. This case indicates that the primary pulmonary PNET is a highly aggressive neoplasm occurring at a young age, and should prompt combined systemic chemotherapy, even though it is organ-confined.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/53. Ossifying fibromyxoid tumor of soft parts. Cytogenetic findings.Ossifying fibromyxoid tumor (OFMT) of soft parts is a recently described, rare but morphologically distinctive soft tissue tumor. The histogenesis of this lesion remains uncertain, although several immunohistochemical and ultrastructural features suggest that it is an unusual neural tumor, possibly of Schwann cell origin. We report here a case of a malignant variant of OFMT that occurred in the foot of a 52-year-old man. The karyotype of a pulmonary metastasis exhibited the following complex numeric and structural aberrations:72 approximately 74,XXY,-5, 6, del(8)(p21),del(9)(p22), 10,der(11)t(3;11)(p21;p15),del(12) (q13),der(13)t(5;13)(q13;q34), 18, 19, 20,-22 [cp10]. A kidney metastasis exhibited the following karyotypic abnormalities: 46,XY,add(3)(p11), der(3)t(3;?;11)(3qter-->3p11::?::11q13-->11qter), -5,del(8)(p21),add(9)(q22),del(9)(p22),der(11)t(3;11)(p21;p15),del(12)(q13), der( 13)t(5;13) (q13;q34),-22. To our knowledge, this is the first reported case of OFMT in which clonal chromosomal aberrations have been shown.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/53. Epithelioid gastrointestinal stromal tumor of the stomach with liver metastases in a 12-year-old girl: aspiration cytology and molecular study.Gastrointestinal stromal tumor (GIST), a stromal tumor of the gastrointestinal tract defined as CD117 (c-kit)-positive neoplasm, occurs primarily in adults. GIST with CD117 (c-kit) mutation and certain cytogenetic abnormalities is associated with malignancy, though a definite relationship between prognosis and molecular alterations remains to be elucidated. We report the cytologic features of an epithelioid GIST arising in the stomach of a child and metastatic to the liver, and the molecular mutational analysis of both the primary gastric tumor and the liver metastasis. literature of pediatric GISTs was also reviewed. Fine needle aspiration of the liver metastasis, processed by Ultrafast Papanicolaou stain, showed fragments of cohesive small epithelioid cells with bland oval nuclei and unipolar cytoplasm transected by capillaries. Immunohistochemically, all nodules in the stomach and liver expressed CD117 (c-kit). Interestingly, some of the gastric tumor clusters were uniformly CD34 positive, whereas others were uniformly CD34 negative, suggesting heterogeneity of tumor clones. The presence of neurosecretory granules further subtyped the tumor into gastric autonomic nerve tumor (GANT). Molecular mutational analysis, performed in both the gastric tumor and the liver metastasis, showed no sequence abnormality in exons 9, 11, and 13 of CD117 (c-kit). Cytogenetic study revealed normal karyotype. These features might suggest a different molecular mechanism leading to malignancy in certain GISTs arising in children.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/53. Histologically benign metastatic meningioma: morphological and cytogenetic study. Case report.The authors report on a 75-year-old man with histologically benign fibroblastic meningioma metastasizing to the lung, liver, spleen, and kidney. The original tumor exhibited a complex karyotype involving different structural and numerical anomalies associated with monosomy of chromosome 22. The implication of chromosome 1p36 was confirmed by fluorescence in situ hybridization in most interphase nuclei. Metastases occurred 4 months after incomplete resection with prior therapeutic embolization. The recurrent tumor in turn displayed anaplastic features and an increased Ki-67 labeling index. Genetic alterations in such morphologically benign meningiomas have been implicated in the malignant development and progression of these tumors.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/53. Pulmonary metastases from a low-grade endometrial stromal sarcoma confirmed by chromosome aberration and fluorescence in-situ hybridization approaches: a case of recurrence 13 years after hysterectomy.Pulmonary metastasis from low-grade endometrial stromal sarcomas (ESSs) occasionally are found after long, disease-free periods, mostly as incidental histological or radiological discoveries. We describe a case of low-grade ESS presenting as nodular pulmonary metastases finally diagnosed by estrogen-receptor staining, cytogenetic and fluorescence in situ hybridization (FISH) analyses, and perusal of the histology of hysterectomy material. An abnormal nodule in the lung field was discovered by means of chest X-ray of a 47-year-old woman. She had been disease free for 13 years after hysterectomy for an alleged leiomyoma. A computed tomographic scan revealed nodules, with fluctuation in size over the 2-year period, in both lungs. Finally the lesion in the left lung was resected, and pulmonary endometriosis was suspected because of the lack of stromal cell nuclear atypia and positive immunohistochemical reactions for estrogen and progesterone receptors. However, a characteristic karyotype was identified cytogenetically: 46, XX, t(7;17)(p15;q11), the translocation of which, specific to ESS, was confirmed by FISH analysis. A final diagnosis of pulmonary metastases from an ESS could be made by reviewing the histology of the previous uterine tumor. In this case, metastatic lesions from an ESS showed a decrease as well as an increase in size, despite the malignant potential. Immunostaining for estrogen and progesterone receptors and cytogenetic and FISH analyses, together with clinical information on the past gynecological history, are valuable diagnostic keys.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/53. Malignant solitary fibrous tumor of the pleura: report of a case with cytogenetic analysis.The majority of solitary fibrous tumors (SFTs) of the pleura are benign, but 10-30% locally recur or metastasize. Pathogenic factors relevant to the determinism of their biological properties are largely unknown. Cytogenetic data on SFTs of the pleura are sparse. We report herein a case of a malignant SFT of the pleura where successful karyotyping was obtained from the primary and recurrent tumors. The initial karyotype showed two abnormal clones: 48, XY; 8; 8; del(9)(q22; q32) [19] and 46, XY, t(1;16)(q25;p12) [7]. culture of the recurrent tumor yielded one clone identical to the dominant clone of the initial karyotype. Demonstration of a recurrent abnormal karyotype largely supports its relevance to the malignant clone and suggests a role of supernumerary chromosome(s) 8 in the determinism of malignant behavior in SFT.- - - - - - - - - - ranking = 3keywords = karyotype (Clic here for more details about this article) |
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