摘要:

AbstractIn this study we analyzed nonrandom aberrations affecting chromosome 9 in a series of 426 consecutively ascertained, karyotypically abnormal non‐Hodgkin's lymphoma (NHL) tumors derived from 407 patients. Cytogenetic abnormalities were correlated with clinical, histologic, and immunologic features. Structural abnormalities of chromosome 9 were identified in 60 specimens derived from 59 patients. The recurring abnormalities among these were associated with 4 clinico‐pathologic subsets. The first comprised 7 cases of t(9;14)(p13;q32), 6 of which had small lymphocytic lymphoma, plasmacytoid subtype, and an indolent clinical course. The second group included 12 cases with breaks at 9q11–13 and diffuse lymphomas with a large‐cell component and a typical response to combination chemotherapy. The third group was comprised of 7 cases with 9q deletions, with a common deleted region encompassing 9q31–32. These cases were characterized by diffuse B‐cell histology, young age, and poor clinical outcome. The fourth subset included 5 intermediate‐ to high‐grade T‐cell tumors with breaks at 9q34. This analysis of chromosome 9 aberrations in NHL comprises the first such effort based on a large series of tumors. We identify and report here new clinico‐pathologic subsets with shared abnormalities of chromosome 9, which should facilitate new approaches to the analysis of the etiology and clinical behavior of NHL. ©

ISSN:1045-2257    

DOI:10.1002/gcc.2870070102

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractTwo‐color fluorescent in situ hybridizations using probes for alphoid (α) and classical satellite (CS) DNAs from chromosomes 1 and 16 were performed to characterize i(1q), der(1;16), and complex rearrangements observed in breast cancer cells from fresh tumors and established cell lines. Six of seven i(1q) occurred after breakage in the α1 containing region and one of seven was dicentric, with breakage in 1p11.2. The five der(1;16)(q10;p10) studied appeared to result from a variety of breakpoints involving α1, α16, CS1, and CS16 DNAs. All had conserved α16 DNA, suggesting a segregation of the der(1;16) leading to a loss of 16q and a gain of 1q in most cases. One complex rearrangement of chromosome 1 also appeared to involve chromosome 16, suggesting that a der(1;16) occurred first, followed by another rearrangement. Both the apparent preferential involvement of constitutive heterochromatin harboring α and CS DNAs and the variety of breakpoints spanning along heterochromatin suggest that the important consequence of the rearrangement is not the breakageper sebut the resulting imbalance. © 1993 Wiley

ISSN:1045-2257    

DOI:10.1002/gcc.2870070103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractBecause of interest in mechanisms of recombination involved in chromosomal deletions in neoplastic disease, and their relation to possible rearrangements in normal tissues, we are studying circular DNA molecules from human tissue with a long‐term goal of investigating them as possible by‐products of physiologically relevant intrachromosomal recombination events. Covalently closed circular (ccc) DNA from human bone marrow was cloned in bacteriophage vectors, and fourteen clones chosen randomly from the cccDNA‐derived library were characterized. Five clones originated from chromosome‐specific centromeric α‐satellite DNA; two clones carried highly repetitive sequences probably derived from interspersed repetitive elements; six clones were derived from single‐copy chromosome‐specific sequences which detected homologous rodent sequences; and one clone (EPM10) was derived from a small chromosome 11‐specific sequence family which localized to chromosome regions 11cen and 11q14. Oligonucleotide primers derived from the cccDNA clones were used in polymerase chain reaction studies to show that (1) the EPM10 clone carried the circular junction, (2) several of the single‐copy products could be detected in three different bone marrow cccDNA preparations, and (3) the Alu‐PCR profile for bone marrow cccDNA showed distinct bands which were similar in four bone marrow cccDNA preparations. ©

ISSN:1045-2257    

DOI:10.1002/gcc.2870070104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractTranslocations involving 11q23 have been shown to be a consistent finding in human hematopoietic malignancies and in some constitutional abnormalities. The identification of a gene,MLL(myeloid/lymphoid or mixed‐lineage leukemia), that spans the breakpoints in four different recurrent 11q23 translocations was recently reported. We describe a rare (11;12)(q23;p13) translocation, observed in leukemic cells from a patient with acute lymphoblastic leukemia, which also disrupts this gene. © 1993 Wiley‐Liss,

ISSN:1045-2257    

DOI:10.1002/gcc.2870070105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractRestriction fragment length polymorphism (RFLP) analysis carried out on 45 primary neuroblastomas showed deletion of chromosome 11 sequences in 12 of 37 (32%) informative cases. Both 11p and 11q probes were informative in seven tumors; loss of all of chromosome 11, of only 11p sequences, and of only 11q sequences was observed in 4, 1, and 2 tumors, respectively. A cytogenetic abnormality involving translocation of chromosome arm 11q to chromosome arm 1p was observed in a primary tumor. Deletion of 14q was observed in 6 of 27 (22%) informative cases. Deletion of chromosome 11 but not 14q may correlate with regional and metastatic disease. These results suggest a possible role for sequences localized to chromosome 11 and to 14q in the development and/or progression of neuroblastoma. © 1993 Wiley‐Liss, I

ISSN:1045-2257    

DOI:10.1002/gcc.2870070106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

Abstract/1p;&‐3qChromosome 11, band q23, is the frequent site of recurring cytogenetic rearrangements in human leukemia. We have cloned and sequenced the breakpoint junctions from a patient who had null‐cell acute lymphoblastic leukemia (ALL) with a t(11;14)(q23;q11). The chromosome 14 breakpoints occurred within theTCRDlocus, close to two diversity segments. The chromosome 11 breakpoint occurred between two head‐to‐head heptamer sequences, and junctional diversity was evident at both derivative junctions, suggesting involvement of the V(D)J recombinase. TheTCRA/Dlocus on the normal chromosome 14 had undergone a Vδ2‐Dδ3‐ΨJα joining. Two phage clones with this VDJ rearrangement were isolated; one of these contained an intra‐Jα region deletion. Two clones with the derivative 11 junction were isolated; one of these had a similar, but not identical, deletion. A heptamer‐nonamer recognition sequence (located ∼70 kb 5′ to Cα), not associated with aTCRgene coding segment, was found in the immediate vicinity of both 5′ breakpoints. We have designated this sequence 5′delfor 5′ deleting element. An intra‐Jα region deletion involving this heptamer‐nonamer was previously identified in the leukemia cells recovered from a patient who had T‐cell ALL. Fifty kilobases of DNA on 11q23 surrounding the breakpoint were cloned and analyzed. No CpG islands or conserved sequences were identified within this region. Fluorescence in situ hybridization analysis showed that this 11q23 breakpoint mapped distal to theMLLgene associated with the recurring breakpoints in the 4;11, 9;11, and 11;19 translocations, distal to theRCKgene associated with an 11;14 translocation, and proximal to theETSIgene, which is lo

ISSN:1045-2257    

DOI:10.1002/gcc.2870070107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractPreviously we have reported non‐random cytogenetic abnormalities involving the short arm of chromosome 9 (9p) in the majority of primary non‐small cell lung cancer (NSCLC) patient samples, which indicated loss of DNA sequences. In another lung tumor, pleural malignant mesothelioma (MM), cytogenetic changes also include apparent deletions of 9p. To define the location and extent of deletions of 9p in NSCLC and MM, Southern blot analyses on six NSCLC and five MM cell lines using molecular probes to 9p loci (IFNA, IFNBI, D9S3, and D9S19) were performed, and DNA dosage was determined by densitometry. Our data demonstrated reduced dosage of 9p sequences in three of six NSCLC and four of five MM lines. A homozygous deletion of D9S3 was found in one NSCLC and one MM cell line. The region of common loss overlapped the D9S3 locus and was flanked by theIFNBIand D9S19 loci.IFNBIhas previously been localized to 9p22, and the D9S3 and D9S19 loci have been mapped in this study by in situ hybridization to 9p21 and 9p13, respectively. We hypothesize the existence of one or more tumor suppressor genes on 9p with a role in the development or progression of NSCLC and MM. © 1993 Wiley‐Lis

ISSN:1045-2257    

DOI:10.1002/gcc.2870070108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractWe describe a patient with stage IV non‐Hodgkin's lymphoma (NHL) and a t(11;18)(q21;q21) translocation. He presented with a gastric small B‐cell lymphocytic lymphoma, expressing IgAL immunoglobulins without expression of CD10, CD5, and CD23 antigens. The lymphoma was the final development of a 6‐year history of a monoclonal IgAL increase complicated by severe renal failure due to membranoproliferative glomerulonephritis. The clinical, histological, immunologic, and cytogenetic features of this patient are very similar to those observed in the five other patients with t(11;18) reported to date. This translocation therefore seems to delineate a new subtype of diffuse small B‐cell lymphoma with involvement of mucosal sites. Involvement of theBCL2oncogene on 18q21 could not be detected using molecular techniques with 5′ as well as 3′BCL2probes, indicating that other, so far unknown, genes relevant to lymphoid differentiation could be located in 18q21 and 11q21. © 1993 Wil

ISSN:1045-2257    

DOI:10.1002/gcc.2870070109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractThe combined use of qualitative and quantitative analysis of 11p13 polymorphic markers together with chromosomal in situ suppression hybridization (CISS) with biotin labeled probes mapping to 11p allowed us to characterize a complex rearrangement segregating in a family. We detected a pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in the family: an insertion of band 11p13‐p14 carrying the genes for predisposition to Wilms' tumor,WTI, and for aniridia,AN2, into the long arm of chromosome 11 in 11q13‐q14. Asymptomatic balanced carriers were observed over three generations. Classical cytogenetics had failed to detect this anomaly in the balanced carriers, who were first considered to be somatic mosaics for del(11)(p13). Two of these women gave birth to children carrying a deleted chromosome 11, most likely resulting from the loss of the 11p13 band inserted in 11q. Although in both cases the deletion encompassed exactly the same maternally inherited markers, there was a wide variation in clinical expression. One child, with the karyotype 46,XY,del(11)(p13p14), presented the full‐blown WAGR syndrome with aniridia, mental retardation, Wilms' tumor, and pseudohermaphroditism, but also had proteinuria and glomerular sclerosis reminiscent of Drash syndrome. In contrast, the other one, a girl with the karyotype 46,XX,del(11)(p13), only had aniridia. Although a specific set of mutational sites has been observed in Drash patients, these findings suggest that the loss of one copy of theWTIgene can result in similar genital and kidney abnormalities. © 1993 Wiley‐L

ISSN:1045-2257    

DOI:10.1002/gcc.2870070110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractFour sporadic and two multiple endocrine neoplasia type 1‐associated pituitary adenomas were studied. A t(1;21)(q32;22) was discovered in one of the two hereditary tumors. © 1993 Wiley‐Liss,

ISSN:1045-2257    

DOI:10.1002/gcc.2870070111

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY