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1.
M. Emoto H. Iwasaki K. Oshima M. Kikuchi Y. Kaneko T. Kawarabayashi 《Virchows Archiv : an international journal of pathology》1997,431(4):249-256
Rhabdomyosarcoma (RMS) is occasionally found in the female genital tract, and mostly appears as one of the heterologous mesenchymal
components in uterine carcinosarcoma designated as malignant mixed müllerian tumour (MMMT). We examined the biological properties
of a pure rhabdomyosarcoma (RMS) cell line designated FU-MMT-3, which was newly established from a surgical specimen taken
from a patient with uterine MMMT. We also evaluated c-myc and MYCN gene amplification in three RMS cell lines (including FU-MMT-3) derived from three MMMTs by Southern blot analysis.
FU-MMT-3 cells were propagated continuously for 57 serial passages over a 2-year period in vitro. FU-MMT-3 was able to produce
tumours demonstrating pure RMS in athymic nude mice. Cytogenetically, FU-MMT-3 showed a triploidy pattern, with complex karyotypic
abnormalities including trisomy of chromosome 8. All three RMS cell lines, including FU-MMT-3, showed amplification of the
c-myc gene (approximately fourfold to eightfold), while no cell lines demonstrated MYCN gene amplification. FU-MMT-3 is considered
to provide a useful system for the study of the biological behaviour of RMS in MMMTs. Extra copies of chromosome 8 and c-myc gene amplification may be associated with the rhabdomyoblastic differentiation in MMMT.
Received: 7 January 1997 / Accepted: 2 May 1997 相似文献
2.
A. P. Dei Tos Paola Dal Cin 《Virchows Archiv : an international journal of pathology》1997,431(2):83-94
Soft tissue tumours represent a heterogeneous group of mesenchymal lesions, and their classification is the subject of continuous
debate. Chromosome analysis, molecular cytogenetics and molecular assays may become increasingly useful in diagnosis, and
this review summarises advances in the cytogenetic characterisation and classification of soft tissue tumours. Among the group
of fibrous lesions, superficial fibromatosis exhibits trisomy 8. This genomic change is also observed in desmoid fibromatosis
in association with trisomy 20. Trisomy 11 is the most frequently observed chromosomal aberration in congenital fibrosarcoma.
Dermatofibrosarcoma protuberans and giant cell fibroblastoma share a translocation t(17;22), which supports the concept of
the existence of a common differentiation pathway. Adipose tissue tumours is the group in which integration of genetics and
pathology has been most fruitful. Ordinary lipomas cytogenetically show an abnormal karyotype in about half the cases. Genomic
changes of the 11q13 region are observed in hibernoma. Lipoblastoma exhibits a specific 8q rearrangement in 8q11-q13. Loss
of material from the region 16q13-qter and 13q deletions are observed in spindle cell/pleomorphic lipomas. The well-differentiated
liposarcoma/atypical lipoma group is characterised karyotypically by the presence of one extra ring and/or extra giant chromosome
marker. Myxoid and round cell liposarcoma share the same characteristic chromosome change: t(12;16)(q13;p11) in most cases.
In the group of smooth muscle lesions most data are derived from uterine leiomyomas, which can be subclassified cytogenetically
into seven different types. Half of all leiomyomas are chromosomally normal; the other half have one of six possible consistent
chromosome changes. Alveolar rhabdomyosarcoma is characterised cytogenetically by two variant translocations t(2;13)(q35;q14)
and t(1;13)(p36;q14). Among tenosynovial tumours, the localised type of giant cell tumour of tendon sheath exhibits two different
karyotypic changes. One involves 1p11 in a translocation with chromosome 2 or with another chromosome. A second type involves
16q24. Synovial sarcoma is characterised cytogenetically by a translocation occurring between chromosome 18 and presumably
two adjacent loci on the X chromosome. In neural tumours, abnormalities of chromosome 22 have been reported in benign schwannomas
and perineuriomas. Malignant peripheral nerve sheath tumours exist in two main forms: sporadic and associated with the NF-1
syndrome. Karyotypes are very complex, but chromosomes 17q and 22q are very often involved. Clear cell sarcoma is characterised
cytogenetically and molecularly by a translocation t(12;22)(q13;q12). The Ewing’s sarcoma/peripheral neuroectodermal tumour
category shows a central karyotypic anomaly represented by the translocation t(11;22). The two variants t(21;22) and t(7;22)
are found in some cases. Among cartilaginous lesion, the most frequently described anomaly is the t(9;22)(q22;q12) in extraskeletal
myxoid chondrosarcoma. Intra-abdominal desmoplastic small round cell tumour is characterised by a t(11;22)(p13;q12).
Received: 5 February 1997 / Accepted: 24 February 1997 相似文献
3.
Alain Bernheim 《Molecular oncology》2010,4(4):309-322
The role of acquired chromosomal rearrangements in oncogenesis (cytogenomics) and tumor progression is now well established. These alterations are multiple and diverse and the products of these rearranged genes play an essential role in the transformation and growth of cancer cells. The validity of this assumption is demonstrated by the development of specific inhibitors or antibodies that eliminate tumoral cells by targeting some of these changes. Imatinib, an inhibitor of the tyrosine kinase ABL, the prototype of these targeting drugs, is yielding complete remissions in most CML patients. Knowledge of chromosomal abnormalities is becoming an essential contribution to the diagnosis and prognosis of cancers but also for monitoring minimal residual disease or relapse. The concept of the “cytogenetic uniqueness” of each cancer has resulted in personalized treatment. This investigation will expound upon, besides the recurrent genomic alterations, the numerous products of perverted Darwinian selection at the cellular level. 相似文献
4.
M. Hřebíček K. Hodaňová J. Ledvinová J. Sokolová M. Elleder J. Zeman L. Vepřeková J. Musilová J. M. F. G. Aerts G. H. Renkema D. Hřebíček 《Virchows Archiv : an international journal of pathology》1996,428(4-5):305-309
We present a case of Merkel cell carcinoma of the thigh diagnosed by conventional histology, immunohistochemistry, electron microscopy and cytogenetics. A unique chromosome 6 trisomy characterized this primary neoplasm, as confirmed by FISH study. The role of chromosome analysis and interphase cytogenetics is emphasized as an adjunct in the subtyping of tumours and their prognostic evaluation. 相似文献
5.
Sciot R Dal Cin P Samson I van den Berghe H Van Damme B 《Virchows Archiv : an international journal of pathology》1999,434(2):177-180
Cytogenetic analysis of a juxta-articular myxoma revealed two distinct cytogenetically abnormal cell populations: inv(2)(p15q36)
and +7, t(8;22)(q11–12; q12–13). These clonal chromosomal changes, the first to be reported in this tumour type, suggest that
at least some juxta-articular myxomas are neoplastic rather than reactive in nature.
Received: 8 June 1998 / Accepted: 17 August 1998 相似文献
6.
Scheil-Bertram S Hartwig E Brüderlein S Melzner I von Baer A Roessner A Möller P Schulte M 《Virchows Archiv : an international journal of pathology》2004,444(3):293-299
In 1942, Jaffe and Lichtenstein introduced the term aneurysmal bone cyst (ABC). Primary ABC is characterized by the presence of spongy or multi-cameral cystic tissue filled with blood. The process is benign, but it is locally destructive and has a high propensity for recurrence. In this paper, we present the third case of multiple metachronous primary ABCs as a rare variant of ABC. We describe the 10-year history of a 12-year-old boy with metachronous multiple primary ABCs at five different sites (right proximal humerus, right ulna, bilateral distal radius and right lateral clavicle). Furthermore, our patient suffered from vascular malformations, such as aortic isthmus stenosis, hypoplastic thoraco-abdominal aorta and bilateral renal artery stenosis. To date, in contrast to solitary ABC, the multiple lesions have been found more frequently in male individuals. Using interphase cytogenetics, we analyzed three of five of the patients ABCs and one of these was also analyzed by GTG-banding. No chromosomal abnormalities were found. Significantly, we excluded the missense mutation of codon 201 in guanine nucleotide-binding protein 1 gene consistently found in McCune-Albright syndrome (MAS) and in non-MAS cases of polyostotic fibrous dysplasia of bone with or without secondary ABC. 相似文献
7.
Seventy-eight patients with Burkitt's lymphoma and seventy controls from Ghana were typed for HLA-A, B, C and DR antigens, to determine whether there is an association between the HLA system and Burkitt's lymphoma. Increased relative risk was observed in Burkitt's lymphoma patients with DR7, HLA-A1 and B12 (BW44). 相似文献
8.
Bone marrow and peripheral blood cultures of chronic lymphocytic leukemia patients were mitogenically stimulated with TPA (12-0-tetradecanylphorbol-13-acetate). Clonal cytogenetic abnormalities were detected in frequencies varying from 15% to 100%, in five of the six patients studied. Parallel studies with pokeweek mitogen showed a much lower level of stimulation and only two abnormal clones were detected. The chromosome abnormalities described in this study are similar to those reported in CLL by other authors, particularly with respect to trisomy 12 and deletion 11q. A significant frequency of hypodiploidy and chromosome deletion was also detected in this study, and further studies are underway to determine the significance of these findings. 相似文献
9.
R.S.K. Chaganti Roller B. Bailey Suresh C. Jhanwar Zalmen A. Arlin Bayard D. Clarkson 《Cancer Genetics and Cytogenetics》1982,5(3):215-221
Malignancy in patients with constitutional chromosome abnormality is of interest not only because it permits insights into the relationship between chromosome abnormality and cancer, but also because it provides opportunities to address such questions as the clonality and evolution of tumors. We report Ph1-positive chronic myelogenous leukemia (CML) in a 50-year-old mosaic (45,X/46,XX) Turner syndrome patient whose leukemia was restricted to the monosomic cell line. Our extensive cytogenetic studies of this patient demonstrated that non-leukemic normal cells persisted in the marrow and were able to proliferate during a period of temporary suppression of the leukemic clone following aggressive treatment. 相似文献
10.
目的 研究双色间期荧光原位杂交 (I-FISH)技术监测CML治疗过程中肿瘤细胞负荷的灵敏度及特异性。方法 应用I-FISH、常规细胞遗传学 (CCG)G显带技术和筑巢式逆转录聚合酶链式反应 (RT -PCR)技术对 2 0例治疗中CML患者骨髓中的肿瘤负荷进行检测。结果 对照组骨髓细胞假阳性率为 0 6 %~2 0 % ,分界值为 2 4 5 % ;2 0例患者经IFN -α治疗或骨髓移植后 9/18例(5 0 % )CCG检测到Ph( )细胞 ,阳性细胞率 16 7%~ 10 0 % ;结合正常分界值 ,16 /2 0例 (80 % )经I-FISH检测到BCR -ABL( )肿瘤细胞 ,阳性细胞率 2 8%~ 99 6 %。 16例患者行RT -PCR检查 ,13/16例 (81 3% )融合基因转录本阳性。结论 I -FISH技术可高度灵敏、特异地监测CML患者治疗过程中肿瘤细胞负荷的变化 ,与CCG及RT -PCR相比 ,检测所得结论更加科学、合理和具有说服力。 相似文献