A causal relationship between chromosomal rearrangements and the genesis of salivary gland pleomorphic adenomas

Summary The results of chromosome analyses performed on 50 pleomorphic salivary gland adenomas in Germany are summarized herein and compared with those obtained on 100 adenomas studied in Sweden. In both series, characteristic or even specific structural chromosomal rearrangements involving either chromosome 8 or 12 were found that allowed the cytogeneticist to distinguish between subgroups. However, the significantly higher percentage of tumors with chromosome abnormalities in the adenomas examined in Germany is particularly noteworthy. In the near future, cytogenetic investigations together with molecular methods will allow investigators to describe basic mechanisms for the development of pleomorphic adenomas in terms of oncogenetics.     

应用左炔诺孕酮硅胶棒避孕者后代细胞遗传学研究

目的　探讨左炔诺孕酮硅胶棒对应用者后代细胞遗传学的影响。方法　 1997年 1月至 2 0 0 1年 12月沈阳市生殖医学中心等检测了平均埋棒 3 86年、取药 1 0 1年后妊娠夫妇的后代及正常夫妇的后代染色体随体联合发生率及细胞分裂指数。结果　观察组和对照组染色体随体联合率的平均值比较差异无显著性 (P >0 0 5 ) ,淋巴细胞分裂指数的平均值在统计学上差异有显著性 (P <0 0 5 ) ,但由于观察组淋巴细胞分裂指数平均值高于对照组 ,所以在统计学上虽然有意义 ,却无临床意义。结论　左炔诺孕酮硅胶棒对应用者后代不产生潜在的细胞遗传学损伤效应     

Rationale for percutaneous biopsy and histologic characterisation of renal tumours

Context

The use of percutaneous biopsy of renal tumours has been traditionally reserved for selected cases because of uncertainties regarding its safety, accuracy, and clinical utility. With the adoption of modern biopsy techniques and increasing expertise in interpreting biopsy specimens, renal tumour biopsy today has limited morbidity and allows histologic diagnosis in the majority of cases in centres with expertise.

Objective

To review the current rationale, indications, and outcomes of percutaneous biopsies and histologic characterisation of renal tumours.

Evidence acquisition

We conducted a systematic review of English-language articles on percutaneous biopsies of renal tumours published between January 1999 and December 2011 using the Medline, Embase, and Web of Science databases. One hundred twelve articles were selected with the consensus of all authors and analysed according to the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) criteria.

Evidence synthesis

In recent years, the increasing incidence of incidental small renal masses (SRMs), the development of conservative and minimally invasive treatments for low-risk renal cell carcinoma (RCC), and the discovery of novel targeted treatments for metastatic disease have provided the rationale for expanding the indications for renal tumour biopsy. Percutaneous biopsy for diagnostic assessment of SRMs can avoid unnecessary surgeries and support treatment decisions, especially in patients at high surgical risk. Biopsies can confirm histologic success after thermal ablation of SRMs and support the selection of the appropriate systemic therapy for metastatic RCC. There is increasing evidence that further diagnostic and prognostic information can be obtained from renal tumour biopsies with the use of immunohistochemistry, cytogenetic and molecular analysis, and high-throughput gene expression profiling.

Conclusions

Percutaneous biopsies have increasing indications and can significantly contribute to clinical management of renal tumours but are still underutilised in clinical practice. Further research is needed to define optimal and standardised patterns of biopsy and improve the accuracy of biopsies to determine tumour histology. Molecular and genetic analysis of biopsy specimens can provide additional information to support patient counselling and treatment decision making.     

Advances in laboratory evaluation of turner syndrome and its variants : Beyond cytogenetics studies

Turner syndrome is a clinically defined phenotype that is characterized by partial or complete X chromosome monosomy. A host of cytogenetic aberrations and mosaicism have been associated with this syndrome. Some individuals, Turner syndrome variants, have cytogenetic findings consistent with Turner syndrome, but exhibit atypical clinical phenotypes. Recently, several molecular tests have been presented to allow for the refined clinical study of Turner syndrome and its variants.     

Molecular biology of myeloma

Multiple myeloma (MM) is a B-cell malignancy characterised by the accumulation of clonal plasma cells (PC) in the bone marrow (BM). The molecular bases for this incurable disease have been widely investigated in the last years, and the development of modern genomic technologies has contributed to the understanding of the pathogenesis of MM. The molecular mechanisms that explain the cellular origin of myeloma cells, the cytogenetic abnormalities and their clinical implications, and the biological information provided by gene expression profiling analysis are reviewed in this paper. In addition, a molecular classification of MM in seven groups based on the relationship between gene expression profiling, chromosomal translocations and prognostic outcome is also presented. And finally, the recent hypothesis of a potential unifying event in the pathogenesis of MM, supported by cyclin D deregulation in virtually all MM tumours, will be summarised.     

Improvement of preparative conditions for cytogenetic studies by short-term liquid culture of haemopoietic cells

Summary In patients with haemopoietic failure, the low incidence of cells in mitosis often prevents successful chromosome preparations. By performing liquid cultures of myeloid cells a high incidence of mitoses could be obtained even in those cases failing to provide mitoses when the direct preparation technique was used. The cytogenetic studies demonstrated that the mitoses achieved by culture techniques were aneuploid and, thus, there is evidence that they are of leukaemic origin. The combination of short-term liquid culture and chromosome analysis appears to be a diagnostic approach in selected cases of hemopoietic insufficiency.Supported by Deutsche Forschungsgemeinschaft, SFB 112¹ and SFB 68²     

Cytogenetic evaluation of human oocytes that failed to complete meiotic maturation in vitro

OBJECTIVE: To determine the cause of infertility in a couple whose oocytes failed to mature in two consecutive fertility treatments. DESIGN: Case report. SETTING: University-based IVF program. PATIENT(S): A 32-year-old woman with unexplained infertility. INTERVENTION(S): Cytogenetic evaluation of oocytes that failed to reach meiotic metaphase II stage of maturation. MAIN OUTCOME MEASURE(S): Observation of oocyte maturity and chromosome composition after fixing and staining with Orcein stain. RESULT(S): Cytogenetic analysis revealed that the oocytes had successfully resumed meiosis. Germinal vesicle breakdown was also indicated, and chromosomes were at metaphase II stage of development. However, meiotic reduction of those chromosomes failed. CONCLUSION(S): Infertility in this couple seems to be attributed to the failure of the chromosomes to complete the reduction phase of metaphase II of meiosis.     

白血病患者异基因造血干细胞移植后细胞遗传学标志的临床观察

目的探讨白血病患者异基因造血干细胞移植（allo-HSCT）后白血病细胞遗传学标志变化的意义。方法用骨髓细胞短期培养法和直接法G显带分析染色体;双色荧光原位杂交检测bcr/abl融合基因。结果22例白血病患者中,12例（CML5,AML7）男性患者allo-PBSCT供者为女性（其姐妹）移植后多次复查染色体核型为46,XX（女性核型）;未见Y染色体及其他畸变染色体核型,说明移植后供体造血干细胞取代患者恶性克隆造血干细胞造血,移植成功。本组13例CML患者allo-PBSCT,均在移植成功后细胞遗传学和分子遗传学检查提示得到缓解。结论造血干细胞移植后白血病细胞遗传学检测可指导后续治疗选择,亦对预后判断有重要意义;染色体核型和基因标志是决定移植后微小残留病（MRD）的有效方法之一。     

FICTION技术在检测多发性骨髓瘤遗传学异常中的应用

目的 探讨联合免疫荧光和荧光原位杂交(FISH)的FICTION技术在多发性骨髓瘤(MM)遗传学异常检测中的应用价值.方法 采集18例MM患者和2例浆细胞白血病患者的骨髓标本,分离单个核细胞制作滴片.从细菌人工染色体文库中选取覆盖IgH、MMSET待测基因位点的质粒,用缺口平移法制备带有半抗原检测标签的核酸探针.在经CD138标记和酪胺信号放大的细胞滴片标本上,使用上述自制探针[t(4;14)、t(11;14)和t(14;16)]和商品化直标缺失探针(13q和p53)进行FISH检测.结果 20例患者标本均使用上述5种探针进行检测,其中检出t(4;14)4例,t(11;14)6例,t(14;16)1例,p53缺失3例,13q缺失8例;另有4例未检测出此5种异常.结论 应用FICTION技术原位分析骨髓中特定瘤细胞亚群的特征性遗传学异常,能够提高FISH检测的效率和敏感性,并可作为对MM患者遗传学分层诊断的初筛实验,指导治疗并判断预后.

Abstract：

Objective To investigate the diagnostic value of FICTION (Fluorescence Immunophenotyping and Interphase Cytogenetics as a Tool for the Investigation of Neoplasms) technique, combining immunofluorescence and fluorescence in situ hybridization (FISH), to detect genetic aberrations in multiple myeloma (MM). Methods Bone marrow samples were collected from 18 MM and 2 plasma cell leukemia (PCL)patients. Probes targeting IgH and MMSET were prepared using a Nick Translation Kit from Bacterial artificial chromosome (BAC) clones. The immunophenotyping was achieved via the CD138 tyramide signal amplification (TSA)-mediated immunofluorescence, followed by FISH with the prepared probes [t (4;14), t (11;14), t(14;16)] and the commercial deletion probes (13q and p53) to detect common genetic aberrations in MM. Results All the 20 samples were assayed with the probes mentioned above, and revealed 4 cases with t(4;14) ,6 with t(11 ;14), 1 with t(14;16), 3 with p53 deletion; and 8 with 13q deletion. The remaining 4 cases had none of the 5 aberrations. Conclusion FICTION technique facilitates the detection of genetic abnormalities of MM in situ; enhances both efficiency and sensitivity of positive det~tion, thus, could be used as the screening test of molecular diagnosis of MM to guide coming-up risk-adapted therapy and evaluate prognosis.     

上海市成人急性白血病572例世界卫生组织分型的临床研究

目的 分析上海市急性白血病（AL）采用世界卫生组织（WHO）分型的基本情况，比较WHO分型和FAB分型的优缺点。方法 收集连续性样本，对上海市中美联合白血病协作组收治的572例AL患者同时采用FAB和WHO标准进行分型诊断。结果 572例AL中急性髓系白血病（AML）436例（76.2％），急性淋巴细胞白血病（ALL）119例（20.8％），急性全髓细胞白血病1例，急性混合细胞白血病5例，急性侵袭性NK细胞白血病9例，急性浆细胞白血病2例，AML和ALL之比为3．66：1。再现性细胞遗传学异常AML占35．3％，AML伴多系病态造血占13.1％，治疗相关性AML占0.9％，不属于上述分类的AML占50．7％，治疗相关性AML比例低于国外报道。ALL中B—ALL占84．9％。AMLFAB分型中M4型最多，占38.5％，M3和M4亚型比例高于国外报道，M1型比例低于国外报道。AML染色体异常率为60.8％，AML伴t（15：17）比例高于国外报道，染色体预后良好者占30.6％，预后中等者占51.5％，预后不良者占17.9％。B—ALL中t（9：22）占33，7％。结论 上海市成人AML的WHO分型和染色体异常类型与国外有显著不同。与上海市1984至1994年AL资料相比，AML的亚型分布有所变化，M4亚型比例增多，M1和M5亚型比例减少。