1/38. First cytogenetic study of a recurrent familial chordoma of the clivus.Two recurrences of a familial clivus chordoma, arisen from a patient who developed the primary tumor at age of 8 years, were investigated by cytogenetic and the fluorescence in situ hybridization (FISH) approach. Of the patient's 3 daughters, 2 developed, respectively, a clivus chordoma and an astrocytoma in infancy, a familial aggregation highly suggestive of a genetic background. After a 31-year hiatus, 2 tumor recurrences, developed over 17 months, were removed surgically. Both were hypo- or nearly diploid, and had a pronounced karyotypic heterogeneity with clonal and non-clonal rearrangements affecting several chromosomes. The same rearrangement, a dic(1;9)(p36.1;p21), was shared in both tumor specimens and, in 90% of the cells, chromosome 1p appeared to be involved in unbalanced translocations with different chromosomes, leading to variable losses of 1p. Previous cytogenetic data concerning chordoma are limited to 10 sporadic tumors with an abnormal karyotype; although no tumor-specific rearrangements have been identified, chromosome 1p appears to be involved frequently.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/38. Epstein-Barr virus early ribonucleic acids as a diagnostic adjunct for relapsed metastatic tumors in patients with cured primary undifferentiated nasopharyngeal carcinoma.PURPOSE: Epstein-Barr virus (EBV) has been consistently shown to be associated with undifferentiated nasopharyngeal carcinoma (NPC). In this article, the authors attempt to detect Epstein-Barr virus in distant relapsed metastatic sites in undifferentiated NPC patients with cured primary cancer. MATERIALS AND methods: in situ hybridization (ISH) technique is a reliable method to detect EBV early RNAs (EBERs) within NPC cells. We used a nonisotopical ISH technique to examine the presence of EBERs in paraffin-embedded tissues obtained from 1 paired specimen of primary NPC and its metastatic counterpart at liver and 2 metastatic specimens of retroperitoneal lymph nodes and bone. RESULTS: All the primary lesions and the metastatic tumors of NPC with undifferentiated histology contained EBERs that could be clearly detected in the nuclei of cancer cells. CONCLUSIONS: This article shows that EBERs can be successfully detected in cells of the distant relapsed metastatic sites. These results suggest that this nonisotopical ISH method of EBERs can be potentially used to diagnose NPC patients developing distant relapsed metastatic lesions with cured primary cancer early. It can offer quick information as to institute suitable salvage chemotherapy for these patients.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/38. Delayed recurrence of hepatocellular carcinoma after liver transplantation: detection of origin by chromosomal analysis.We report on a 41-year-old man undergoing liver transplantation for chronic hepatitis c who presented 26 months later with hepatocellular carcinoma. No evidence of hepatocellular carcinoma could be found in the native liver, although features of small cell dysplasia were prominent. Although he had recurrent hepatitis c, the transplanted liver was not cirrhotic. Chromosomal analysis was used to resolve whether this was a de novo tumor or a recurrence of an unsuspected tumor present at the time of transplantation. This male patient had received a liver from a female donor, and in situ hybridization for the y chromosome showed reactivity in the tumor but not in surrounding nontumorous liver. Thus, this is an example of the use of chromosomal analysis to resolve the origin of a tumor occurring in the transplant setting.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/38. Solitary squamous cell papilloma of the lung in a 40-year-old woman with recurrent laryngeal papillomatosis.A rare case of recurrent respiratory papillomatosis (RRP) is reported with a review of the literature. A 40-year-old Japanese woman had suffered from RRP since 1 year of age. She developed a pulmonary squamous papilloma with a thin-walled cavity, which was suspected as being lung carcinoma. The trachea and bronchi around the tumor were intact, and no malignant transformation was present. Two types of human papillomavirus, 6 and 16, were detected, both in the laryngeal and pulmonary papillomas by in situ hybridization and the polymerase chain reaction method. To date, only 40 cases of juvenile laryngeal papilloma with pulmonary involvement have been reported in the English literature.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/38. 19p deletion in recurring leiomyosarcoma lesions from the same patient.Ten leiomyosarcomas (LMS) affecting the same patient over a period of 3 years were cytogenetically studied to detect nonrandom chromosomal changes with a pathogenetic significance. All tumors, likely metastases of a previous LMS presentation, were classified as small, including eight that developed before chemotherapy; the diagnoses were based on standard immunohistochemistry methods for smooth muscle tumors. Scoring of 613 metaphases revealed monosomy of chromosome 22 in six LMS, monosomy of chromosome 19 in three, and deletion of chromosome 19p in all ten. interphase fluorescence in situ hybridization (FISH) of the 22-alphoid-specific probe allowed loss of the target chromosome to be detected in four tumors at higher frequencies than those detected by cytogenetics. Double-color FISH of the 19p- and 19q-specific YAC performed on one tumor made it possible to distinguish the monosomic and 19p deleted cells, the relative frequencies of which were found to be 10% and 20%, respectively. The deletion breakpoint could be mapped at 19p13 between YAC 957d12 and YAC 947g4. The recurrence of the 19p deletion in a subset of tumor cells from all of the analyzed LMS suggests that this structural aberration is a significant change in the development of leiomyosarcomas.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/38. Penile hybrid verrucous-squamous carcinoma associated with a superficial inguinal lymph node metastasis.A 62-year-old Japanese man who presented with penile carcinoma is reported. The initial exophytic neoplasm excised from the coronal sulcus and prepuce on the abdominal side of the penis was diagnosed histologically as verrucous carcinoma. Twenty-six months after the primary operation, an epithelial neoplasm recurred within the scar of the primary operation. The neoplasm histologically showed verrucous carcinoma and multiple invasive foci of conventional squamous cell carcinoma in the advancing edge of the tumor, as such representing a hybrid verrucous-squamous carcinoma. A lymph node metastasis in the left superficial inguinal lymph node occurred 4 months after the second operation. A total bilateral inguinal lymphadenectomy was performed and revealed no other lymph node metastases. The patient is alive without local recurrence or evidence of metastases in pelvic lymph nodes or visceral organs 2 years after the resection of the hybrid verrucous-squamous carcinoma. The initial verrucous carcinoma, recurrent hybrid verrucous-squamous carcinoma, and metastatic lymph node were negative for human papillomavirus dna type 6, 11, 16, 18, and 33 sequences by dot blot hybridization of polymerase chain reaction products. The characteristics of hybrid verrucous-squamous carcinoma and importance of lymph node metastasis in penile carcinoma are discussed.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
7/38. Malignant giant cell tumor of synovium (malignant pigmented villonodular synovitis).CONTEXT: Pigmented villonodular synovitis (PVNS) is a well-recognized entity that has the potential for extensive local destruction, even though it rarely metastasizes. Rare reports of malignant forms are recorded in the literature. We observed 2 patients in whom examples of PVNS followed an aggressive course with multiple recurrences, metastasis, or degeneration to an appearance resembling malignant fibrous histiocytoma. OBJECTIVE: We studied the occurrence and persistence of aneuploidy for chromosomes 5 and 7 in 2 patients with clinically aggressive PVNS. DESIGN: fluorescence in situ hybridization was performed for the detection of chromosomes 5 and 7 in the primary lesions, recurrences, and metastases in 2 examples of PVNS. RESULTS: fluorescence in situ hybridization demonstrated small but significant numbers of cells with trisomies for chromosomes 7 and/or 5 in both the primary and recurrent lesions of both patients. CONCLUSIONS: The presence of consistent chromosomal trisomies (5 and 7) in both patients' examples of PVNS suggests a neoplastic nature for this lesion. The persistence of these trisomies in the primary lesions, recurrences, and metastases supports a molecular link between the primaries, recurrences, and metastases despite changes in morphologic features. The presence of persistent trisomies in the recurrent and metastatic lesions supports the concept of malignant PVNS.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
8/38. ACTH silent adenoma shrinking under cabergoline.OBJECTIVES: The authors present a case report that proposes the use of cabergoline treatment in silent ACTH adenoma, an unusual member of the heterogeneous group of the so-called clinically non-functioning pituitary adenomas. DESIGN: Following the clinical and radiological improvement of a recurrent silent ACTH adenoma in a 77-year-old patient treated with cabergoline (0.5 mg every 2 days for 2 years), in vitro studies of the original tumor were performed. methods: The original tumor from the patient was studied by in situ hybridization and dopamine D2 receptor autoradiography. It was compared with four macroprolactinomas and two macroadenomas from patients with Cushing's disease. RESULTS: The D2 receptor mRNA signal of the reported case was intense and of the same order of magnitude as that observed in control prolactinomas. dopamine D2 receptor autoradiography was twice that of control corticotroph adenomas and was close to that observed in prolactinomas. CONCLUSIONS: This is the first description of an in vivo shrinkage of an ACTH silent adenoma under cabergoline. We demonstrate in vitro, the presence of D2 receptors in the primitive tumor in concentrations similar to those found in control prolactinomas. These results suggest that therapeutic trials with cabergoline might be undertaken in recurring cases of ACTH silent tumors and more generally, non-functioning pituitary adenomas.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
9/38. Cytogenetic aberrations in primary and recurrent fibrolamellar hepatocellular carcinoma detected by comparative genomic hybridization.Fibrolamellar hepatocellular carcinoma (FLC) is a rare entity of hepatocellular carcinoma (HCC) not yet analyzed cytogenetically. By using comparative genomic hybridization (CGH), we looked for chromosome changes in 2 primary FLCs and a recurrent FLC with and without metastases. CGH revealed an amplification of 1q in 1 primary FLC. The other primary FLC and a metastasis revealed no changes. The recurrent FLC showed 18 aberrations, including 1q , 2p , 3p , 3q , 4p , 4q , 5p , 5q , 6q , 8p , 8q , 9q , 12p , 12q , 18p , 18q , Xp , and Xq . In 2 metastases, 9 and 10 aberrations were seen, including 1q , 3p-, 3q-, 4q , 5p , 5q , 8q , 10p , 10q , Xp , and Xq . In 9 cases of other entities of HCC, a mean of 10.2 aberrations per case were detectable affecting 1q (7 cases), 4q (5), 5q (4), 6q (5), 8p (5), 8q (5), 9p (4), 9q (5), 16q (4), 17p (5), and 17q (4). chromosomes 2p, 2q, 3p, 3q, 4p, 5p, 6p, 7p, 7q, 10q, 11p, 11q, 12p, 12q, 13q, 14q, 16p, 18p, 18q, 20p, 20q, and 21q were altered in up to 3 samples. Our findings indicate striking differences in the number of chromosomal imbalances in primary FLC and recurrent FLC, whereas imbalances seen in the recurrent FLC and the other entities of HCC were similar in number and chromosomes involved. It may be speculated that these aberrations represent secondary events based on a genetic instability and do not mirror the primary alterations in these carcinomas.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
10/38. Dedifferentiation of a well-differentiated liposarcoma to a highly malignant metastatic osteosarcoma: amplification of 12q14 at all stages and gain of 1q22-q24 associated with metastases.Well-differentiated liposarcomas (WDLPS), especially those located in the retroperitoneum, may occasionally undergo dedifferentiation. Although this process is associated with a more aggressive clinical course, dedifferentiated liposarcomas rarely produces metastases. The case reported here is rather uncommon: A retroperitoneal WDLPS gave lung metastases that were diagnosed as highly malignant osteosarcomas. We used comparative genomic hybridization (CGH), fluorescence in situ hybridization (FISH), and Southern blot analyses to characterize the copy number changes and genetic aberrations occurring at different stages of the disease. In the primary tumor, the only detectable aberration was amplification of 12q13-q14, which was present only in a fraction of the cells and revealed by FISH analysis. High-level amplification of 12q13-q14, involving CDK4, MDM2, and HMGIC, was seen both in the relapse and the metastases. The second most common change, gain or high-level amplification of 1q22-q24, was detectable by CGH only in the osteogenic metastases, as was loss of the distal 2q. FISH analyses revealed considerable heterogeneity in the samples, and the percentage of cells showing aberrations was significantly higher in the metastatic samples. In particular, increased copy numbers of 789f2, a marker for 1q21 amplification in sarcomas, was observed in more than 65% of the cells in the metastatic samples, but in less than 10% of the cells from the recurrent samples. These observations could indicate that 1q amplification, in particular, may be indicative of a more malignant phenotype and ability of metastasis in WDLPS, as has also been suggested by others.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
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