溴氰菊酯对白纹伊蚊（Aedesalbopictus）C6／36细胞株的细胞遗传学效应

本研究选择１０μｇ／ｍｌ、２０μｇ／ｍｌ、４０μｇ／ｍｌ浓度的溴氰菊酯处理白纹伊蚊Ｃ６／３６细胞，以ＭＭＣ作为阳性对照物，观察溴氰菊酯处理２４ｈ后对Ｃ６／３６细胞染色体畸变率和姐妹染色单体互换（ＳＣＥ）频率的影响。结果显示，三个浓度的溴氰菊酯对Ｃ６／３６细胞染色体畸变率均没有显著影响（Ｐ＜０．０５）；溴氰菊酯浓度在４０μｇ／ｍｌ时可诱导Ｃ６／３６细胞ＳＣＥ频率轻度增高（Ｐ＞０．０５），而溴氰菊酯浓度在１０μｇ／ｍｌ、２０μｇ／ｍｌ时，对Ｃ６／３６细胞ＳＣＥ频率没有诱导作用。表明溴氰菊酯对Ｃ６／３６细胞的遗传学效应较弱     

Translocation t(6;14) as the Sole Chromosomal Abnormality in Adenoid Cystic Carcinoma of the Base of Tongue

We present an adenoid cystic carcinoma of the base of tongue in a 48-year-old male with a restricted chromosomal alteration by cytogenetic and spectral karyotypic analysis (SKY). SKY and G-banding analyses identified the t(6;14)(q25;q13) as the sole structural aberration in all metaphases analyzed. This finding supports a critical role for this event in the development of this tumor. The implications of chromosome 6q translocation in this case and in previously reported adenoid cystic carcinomas are highlighted and discussed.     

Bipolar (neural and myoblastic) phenotype in cell lines derived from human germ cell tumours of testis

Non-seminomatous germ cell tumours of the testis (NSGCT) form a heterogeneous group of neoplasms. Cell lines derived from NSGCT may provide useful data concerning the biology of neoplasic precursor germ cells, differentiation of tumour stem cells and the relationship between various tissue components of these tumours. Four NSGCT were studied, two mixed tumours composed of teratocarcinoma, yolk sac and trophoblastic elements, and two malignant teratomas with a massive neuroectodermal component, equivalent to primary neuroectodermal tumours (PNET) of the testis. The explanted tumours gave rise to various cell populations, including epitheloid cells, flattened large cells, spindle cells and tear drop cells of neuroblastic type. Ultrastructurally, cultured cells expressed various degrees of neural and muscular differentiation: neurosecretory granules, intermediate filaments of glial nature, and filaments resembling Z-bands. Cultured cells showed the expression of several neural and muscular markers, including neurofilaments, cytokeratin, actin, desmin, neuron-specific enolase, glial fibrillary acidic protein and HNK-1. In addition, three cases expressed HBA-71 antigen and two expressed MyoDI protein. All cases were aneuploid, and an isochromosome 12p, i(12p), was detected in three cases. Myoblastic and neural cells are the predominant tumour cells that grow in vitro, independent of the nature and composition of the primary germ cell tumour. A histogenetic relationship between germ cell tumours and small round cell tumours of childhood is suggested.     

Extraskeletal myxoid chondrosarcoma: multimodal diagnosis and identification of a new cytogenetic subgroup characterized by t(9;17)(q22;q11)

Extraskeletal myxoid chondrosarcoma is a rare malignant soft tissue tumour that can be difficult to diagnose correctly, especially preoperatively. We describe four cases of extraskeletal myxoid chondrosarcoma of the extremities diagnosed by a multimodal approach. The cytological examination of fine-needle aspirates showed small and round, mildly pleomorphic cells lying in sheets and cords, but also dispersed within a myxoid and metachromatic intercellular substance. Histological, electron microscopic and immunocytochemical examination also yielded findings compatible with the diagnosis of extraskeletal myxoid chondrosarcoma. Cytogenetic analysis demonstrated a t(9;22)(q22;q12) in two tumours and a t(9;17)(q22;q11) in the third and fourth. The translocation t(9;22)(q22;q12) has been described repeatedly in extraskeletal myxoid chondrosarcoma but never in other tumours; hence, the detection of this pathognomonic chromosome abnormality in short-term cultured cells from fine-needle aspirates verified the diagnosis in two of the cases. The t(9;17)(q22;q11) found in the last two cases probably represents a new cytogenetic subgroup of extraskeletal myxoid chondrosarcoma as it, too, is unknown in other contexts. The multimodal approach taken in these four cases enabled a definite diagnosis of a rare malignant tumour whose cytological and histological features alone are usually not sufficiently distinct to rule out other differential diagnostic possibilities. Received: 16 March 1999 / Accepted: 1 June 1999     

Cytogenetic abnormalities related to histopathologic grade of astrocytic tumors

Cytogenetic analysis was performed on 7 lowgrade astrocytomas, 10 anaplastic astrocytomas, and 14 glioblastomas. Abnormal chromosome numbers were noted in all cases of high-grade astrocytomas but were rarely noted in low-grade astrocytomas (28%). The most consistent changes in high-grade astrocytomas were complete loss of chromosome 10 (61%), gain of chromosome 7 (56%), and loss of chromosome 17 (28%). Certain structural abnormalities, such as marker chromosomes and double minutes (33%), and the deletion and translocation of chromosomes 1 (33%) and 17 (17%), were also noted. These results indicate that changes in the number and/or structure of chromosomes with related inactivation of tumor suppressor gene or oncogene activation might play a critical role in the formation and anaplastic progression of astrocytic tumors.     

Does myeloma genetic have an effect on stem cell mobilization?

BackgroundAutologous stem cell transplantation (ASCT) after induction treatment is the standard of care. Our understanding of myeloma genetics has been very limited and its effect to stem cell mobilization is not widely investigated. We aimed to investigate the effect of genetic abnormalities on stem cell mobilization in myeloma.MethodsThe data of 150 MM patients who underwent stem cell mobilization at our center between 2009–2020 were included and analyzed retrospectively. Pre-treatment bone marrow cytogenetics and fluorescence in situ hybridization tests were performed for each patient.ResultsGroups were divided into two as patients with normal cytogenetic and abnormal cytogenetic. No difference observed between groups regarding age, gender and ECOG (p = 0.4; p = 0.2; p = 0.3). Groups were similar concerning myeloma characteristics, received treatment and treatment response. Median CD34+ cells/kg harvested was 444(2−11.29) in normal cytogenetic group whereas it was 4,8(2.4−8.6) in abnormal cytogenetic group(p = 0.2). Optimal CD34+ cells level achievement was 73 (67 %) in normal cytogenetic group while it was 25(71.4 %) in abnormal cytogenetic group(p = 0.6). Neutrophil and platelet engraftment durations were similar among cytogenetic groups (p = 0.7; p = 0.9). R-ISS based groups were also did not differ regarding harvested CD34+ cells and achievement optimal CD34 level (p = 0.79, p = 0.74). Engraftment durations for neutrophil and platelet were comparable between R-ISS based groups (p = 0.59, p = 0.65)ConclusionsHere we were not able to find any impact of genetic abnormalities on stem cell mobilization in myeloma patients. Expanded studies can aid to identify the effect of particular genetic anomalies on the stem cell mobilization.     

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation

A newborn with severe microcephaly and a history of parental consanguinity was referred for cytogenetic analysis and subsequently for genetic evaluation. While a 46,XY karyotype was eventually obtained, premature chromosome condensation was observed. A head MRI confirmed primary microcephaly. This combination of features focused clinical interest on the MCPH1 gene and directed genetic testing by sequence analysis and duplication/deletion studies disclosed a homozygous deletion of exons 1–11 of the MCPH1 gene. This case illustrates a strength of standard cytogenetic evaluation in directing molecular testing to a single target gene in this disorder, allowing much more rapid diagnosis at a substantial cost savings for this family.     

Pesticide genotoxicity in cotton picking women in Pakistan evaluated using comet assay

To control agricultural pests and meet the increasing food demands, pesticides use has been increased substantially over time. Although pesticides are relatively specific to their targets, they can affect non-target organisms and are hazardous for the population around the application areas particularly to the individuals engaged in different types of agricultural activities. This situation is worse in developing and under-developed countries where personal protective equipment is merely used and regulatory guidelines are hardly practiced. In the present study, DNA damage in women exposed to pesticides while picking cotton with bare hands was assessed using single cell gel electrophoresis assay or comet assay. The presence of pesticides in blood serum of exposed individuals was also analyzed using high-performance liquid chromatography. Blood samples were collected from 138 (69 exposed and 69 control) randomly selected females from a major cotton growing area (Bahawalpur District) of the Punjab province of Pakistan. DNA damage, as determined by the mean comet tail length, was significantly higher (p?p?相似文献   

细胞遗传学动态检测在慢性粒细胞白血病中的应用

目的：评价细胞遗传学动态改变在判断慢性粒细胞白血病（CML）病程进展中的作用，以及干扰素对CML细胞遗传学缓解率的影响。方法：对20例CML患者进行动态细胞遗传学检测。结果：20例患者初诊时均具有9号和22号染色体易位，形成Ph染色体，20例患者在监测过程中，有5例患者出现克隆转化，此5例患者均在短期内急变。在应用干扰素治疗的12例患者中有4例患者在治疗中曾转变为正常核型，达细胞遗传学完全缓解。结论：应用常规细胞遗传学检查对于诊断临床上不典型的CML有重要作用。在CML病程中动态监测细胞遗传学改变，如果发生克隆转化，可以预测急变，以便提早治疗。早期应用干扰素治疗CML可以使Ph染色体转阴，监测其动态变化可以指导临床治疗。     

Cytogenetic studies in bone marrow transplant recipients

Summary Chromosome studies were performed in 24 patients who underwent allogeneic bone marrow transplantation (BMT) for severe aplastic anaemia (8), chronic myeloid leukemia (5 in chronic, 2 in accelerated phase and 1 in lymphoid blast crisis), acute myeloid leukemia (6), acute lymphoblastic leukemia in relapse (1) and Hodgkin's disease (1). Donor-cell type engraftment was demonstrated in 21 patients: in all 17 sex-mismatched transplants and — as demonstrated by reconstitution with Ph-negative cell populations — in 4 CML patients with a sex-matched donor. Recipient-type mitoses were seen in the bone marrow of 5 cases (1 SAA, 3 CML, 1 AML) after transplantation. They were only observed on one occasion in patients with SAA (4 of 25 on day 33) and AML (44 of 50 on day 14). Despite the continued demonstration of some Ph-positive mitoses in 3 patients with CML up to day 28, 323 and 451 after BMT, respectively, all surviving CML patients are still in complete haematological and clinical remission. So far the significance of these cytogenetically abnormal persisting host cells remains unknown. Present address: Roswell Park Memorial Institute, Department of Genetics and Endocrinology, 666 Elm Street, Buffalo, NY 14 222, USA