1/126. diagnosis of disseminated alveolar rhabdomyosarcoma using cytogenetics: case report.The clinical, histologic and cytogenetic features of a patient with the alveolar subtype of rhabdomyosarcoma (RMS) were investigated. The patient presented with a widely disseminated tumour including bone marrow involvement, and was a diagnostic dilemma. The presence of translocation (2;13)(q37;q14), which is strongly associated with alveolar RMS helped make the diagnosis. A review of other published cases confirms the strong association of (2;13) with alveolar RMS. The importance of considering RMS as a differential diagnosis in patients presenting with disseminated tumour as the only finding is stressed. This case also shows how cytogenetic investigation of similar patients may provide a diagnosis.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
2/126. Rearrangement of the neoplasia-associated gene HMGIC in synovia from patients with osteoarthritis.The occurrence of clonal chromosome aberrations in short-term cultures from synovia, osteophytes, and cartilage from patients with osteoarthritis (OA) was recently reported. Among these aberrations, a recurrent involvement of chromosome bands 12q13-15 in structural rearrangements was detected in both synovia and osteophytes. Chromosomal abnormalities of 12q13-15 are frequent among malignant and benign mesenchymal tumors, and it was recently demonstrated that the molecular target in these neoplasms is the HMGIC gene. In this study, we show by fluorescence in situ hybridization that HMGIC was disrupted by rearrangements of 12q15 in synovia from two patients with OA. The finding of HMGIC rearrangement in a lesion that is not traditionally regarded as neoplastic not only widens the spectrum of disorders that may be associated with altered function of this gene, but also provides further support for the notion that genetically rearranged cell populations are part of the OA process.- - - - - - - - - - ranking = 0.00087994906613632keywords = process (Clic here for more details about this article) |
3/126. Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation.Carbohydrate-deficient glycoprotein syndromes may occur as a primary result of distinct genetic disruption of the enzymes involved in processing the carbohydrate moeities of glycoproteins. They may also occur due to a number of secondary defects in glycosylation. CONCLUSION: A female infant with an unbalanced chromosomal translocation [46,XX,der(21)t(17;21) (p13.1;q22.11)mat.ish der(21)t(17;21) (D17S375 x 3, D21S65-)] and with biochemical and clinical features of a carbohydrate deficient glycoprotein syndrome is reported. This chromosomal disruption is another secondary cause of the disorder.- - - - - - - - - - ranking = 0.00087994906613632keywords = process (Clic here for more details about this article) |
4/126. Clinical aspects of alveolar rhabdomyosarcoma with translocation t(1;13)(p36;q14) and hypotetraploidy.Although most cases of alveolar rhabdomyosarcoma (RMS) are characterized by the chromosomal translocation t(2;13)(q35;q14), several cases have been reported with a variant t(1;13)(p36;q14). We present the clinical, morphological and cytogenetic features of an alveolar RMS in a 4-year-old boy. Chromosomal analysis revealed a hypertriploid to hypotetraploid karyotype with a t(1;13)(p36;q14) in all tumor cells. It appears that alveolar RMS with t(1;13) occurs in younger children and displays a higher incidence to upper and lower extremity than tumors with t(2;13).- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
5/126. Recurrent t(16;17)(q22;p13) in aneurysmal bone cysts.Aneurysmal bone cyst (ABC) is a benign bone lesion for which no previous cytogenetic data exist. We describe the finding of clonal chromosome aberrations in three tumors; two had a t(16;17)(q22;p13) as the sole anomaly, and the third had a del(16)(q22) as the only change. These findings show that somatic mutations contribute to the development of ABC and furthermore indicate that bands 16q22 and 17p13 may harbor genes of importance in this process.- - - - - - - - - - ranking = 0.00087994906613632keywords = process (Clic here for more details about this article) |
6/126. Molecular analysis of the rearranged genome and chimeric mRNAs caused by the t(6;11)(q27;q23) chromosome translocation involving MLL in an infant acute monocytic leukemia.Chromosomal analysis of acute monocytic leukemia cells in a female infant revealed a t(6;11)(q27;q23) translocation. Southern blot analysis with a cDNA probe of the MLL gene at chromosome band 11q23 indicated that the breakpoint was in an 8.3-kb BamHI fragment that contained exons 5-11 of the MLL gene. Northern blot analysis showed a faint band corresponding to the MLL chimeric transcript. Structural analysis of a genomic clone with the rearranged MLL gene from der(11) chromosome demonstrated the breakpoint to be localized between exons 6 and 7 of the the MLL gene and to lie in an Alu sequence of this region. The partner gene fused to the 3' part of MLL was shown to be the AF6 gene on chromosome 6q27 by in situ chromosome hybridization and nucleotide sequencing of chimeric MLL cDNA clones. However, it was shown that MLL exon 5 was fused to AF6 in one clone, whereas most clones were MLL exon 6/AF6 chimeric cDNA clones. These findings indicate that exon 6 of MLL is spliced out in the process of transcription in a variant MLL/AF6. In addition, we were able to detect the splicing of exon 6 in either this chimeric MLL/AF6 or MLL transcripts from untranslocated chromosomes by reverse transcriptase-polymerase chain reaction. The detailed genetic map of AF6 was determined by in situ chromosome hybridization and radiation hybrid mapping.- - - - - - - - - - ranking = 0.00087994906613632keywords = process (Clic here for more details about this article) |
7/126. Jumping translocations of 11q in acute myeloid leukemia and 1q in follicular lymphoma.Jumping translocation is a rare cytogenetic aberration in leukemia and lymphoma, and its etiologic mechanisms are not clearly known. We report two cases with jumping translocations. One had follicular lymphoma and jumping translocations of 1q onto the telomeric regions of 5p, 9p, and 15q in three cell lines, co-existing with the specific translocation t(14;18)(q32;q21). The second case had acute myeloid leukemia (AML) and jumping translocations of 11q as the sole aberration, onto multiple derivative chromosomes in each of the abnormal cells. A total of 17 telomeric regions were seen as the recipients of 11q in this case, and 9q was always involved as one of the recipients in all abnormal cells. fluorescence in situ hybridization (FISH) confirmed the identification of 11q material in the derivative chromosomes. While 1q has been the most common donor of acquired jumping translocations, this is the first report on jumping translocations of 11q. Different from all previously reported jumping translocations which involve only one recipient in each cell line and lead to a mosaic trisomy, multiple recipients in most of the abnormal cells in this case had led to a tetrasomy, or a pentasomy of 11q. The pattern of chromosome involvement as the recipients of 11q appears to show a continuing evolutionary process of jumping, stabilization, and spreading of the donor material into other chromosomes. Somatic recombinations between the interstitial telomeric or subtelomeric sequences of a derivative chromosome and the telomeric sequences of normal chromosomes are believed to be the underlying mechanism of jumping translocations and their clonal evolution.- - - - - - - - - - ranking = 0.00087994906613632keywords = process (Clic here for more details about this article) |
8/126. A 12q13 translocation involving the HMGI-C gene in richter transformation of a chronic lymphocytic leukemia.We report a case of Richter transformation of a chronic lymphocytic leukemia with a 12q13 translocation involving the HMGI-C gene. fluorescence in situ hybridization analysis with the use of two different cosmid pools spanning the entire HMGI-C region showed that the breakpoint on chromosome 12 was located in the HMGI-C gene, presumably within intron 3. In fact, the 3' region of HMGI-C had been translocated to a derivative chromosome 6. This translocation was not visible at the cytogenetic level. Immunohistochemical analysis performed on the bone marrow smear demonstrated the expression of the HMGI-C protein specifically in the blasts, suggesting that the aberrant expression of the HMGI-C gene might have an important role in the process of leukemogenesis.- - - - - - - - - - ranking = 0.00087994906613632keywords = process (Clic here for more details about this article) |
9/126. Acute myeloid leukemia associated with hemophagocytic syndrome and t(4;7)(q21;q36).Hemophagocytic syndrome (HS) is a histiocytic reactive process often associated with infections and/or malignancies. Clonal karyotypic abnormalities have been the hallmark of several hematological malignancies and have been shown to be of clinical significance in terms of both diagnosis and prognosis. While there are limited reports of both clonal and nonclonal abnormalities in HS, their clinical significance has not been established. Detection of such clonal abnormalities, as seen in some cases of HS, may indicate the presence of an occult malignant process, even when there is no microscopic evidence of a hematological malignancy. We report a case of HS in a child with clonal t(4;7)(q21;q36) which later progressed to acute myeloid leukemia (AML) with further clonal evolution. Our case strengthens the argument that cytogenetic studies in HS may be important in identifying the underlying occult malignant process.- - - - - - - - - - ranking = 0.002639847198409keywords = process (Clic here for more details about this article) |
10/126. Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13).The CBP gene at 16p13 fuses to MOZ and MLL as a result of the t(8;16)(p11;p13) in acute (myelo)monocytic leukemias (AML M4/M5) and the t(11;16)(q23;p13) in treatment-related AML, respectively. We show here that a novel t(10;16)(q22;p13) in a childhood AML M5a leads to a MORF-CBP chimera. RT-PCR using MORF forward and CBP reverse primers amplified a MORF-CBP fusion in which nucleotide 3103 of MORF was fused in-frame with nucleotide 284 of CBP. Nested RT-PCR with CBP forward and MORF reverse primers generated a CBP-MORF transcript in which nucleotide 283 of CBP was fused in-frame with nucleotide 3104 of MORF. Genomic analyses revealed that the breaks were close to alu elements in intron 16 of MORF and intron 2 of CBP and that duplications had occurred near the breakpoints. A database search using MORF cDNA enabled us to construct an exon-intron map of the MORF gene. The MORF-CBP protein retains the zinc fingers, two nuclear localization signals, the histone acetyltransferase (HAT) domain, a portion of the acidic domain of MORF and the CBP protein downstream of codon 29. Thus, the part of CBP encoding the RARA-binding domain, the CREB-binding domain, the three Cys/His-rich regions, the bromodomain, the HAT domain and the Glu-rich domains is present. In the reciprocal CBP-MORF, part of the acidic domain and the C-terminal Ser- and Met-rich regions of MORF are likely to be driven by the CBP promoter. Since both fusion transcripts were present, their exact role in the leukemogenic process remains to be elucidated.- - - - - - - - - - ranking = 0.00087994906613632keywords = process (Clic here for more details about this article) |
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