46,xy,t（17;y）（q^＋;q^—）核型异常一例

４６，ｘｙ，ｔ（１７；ｙ）（ｑ＋；ｑ－）核型异常一例李江源刘秀林４６，ｘｙ，ｔ（１７；ｙ）（ｑ＋；ｑ－）核型个体是一种罕见的染色体结构畸变病例，我们曾遇到１例，现报道如下。患者男，２１岁。幼年生长发育和家族史无特殊记载，因无青春期性发育求治。３年前曾...     

世界首报核型46，xx,t（9;11）（9qter—9p12：：11p15→11pter;11qter→11p15：：9p12→9pter）致自然流产1例

患者，女，２６岁，农民。孕２胎均于孕２～３月自然流产。孕期无不良因素接触史。非近亲婚配。无家族史。其４个兄长及２个姐姐均生育正常儿。患者出生时，其父５０岁，其母４５岁。患者表型及智力正常。妇科检查无异常。细胞遗传学检查：常规方法培养外周血淋巴细胞７２...     

Correlation of Seven Biological Factors （Hsp90a,p53, MDM2, Bcl-2, Bax,Cytochrome C,and Cleaved caspase3） with Clinical Outcomes of ALK＋ Anaplastic Large-cell Lymphoma

ObjectiveTo explore correlation of seven apoptosis-related proteins (Hsp90a, p53, MDM2, Bcl-2, Bax, Cytochrome C, and Cleaved caspase3) with clinical outcomes of ALK+ anaplastic large-cell lymphoma (ALCL).MethodsUsing immunohistochemistry and immunofluorescence double staining methods, the expressions of these seven apoptosis-associated proteins were studied to clarify their relationship with clinical outcomes of 36 ALK+ and 25 ALK-systemic ALCL patients enrolled between 1996 and 2006. The relationship of these apoptosis-regulating proteins with NPM-ALK status was also evaluated with the tyrosine inhibitor herbimycin A (HA) in vitro by immunocytochemistry, Western blotting and flow cytometric assays.ResultsThe presence of Hsp90α-, MDM2-, Bax-, Cytochrome C, and Cleaved caspase3-positive tumor cells was found significantly different in ALK+ and ALK-ALCLs, which was correlated with highly favorable clinical outcome. The Bcl-2- and p53-positive tumor cells were found in groups of patients with unfavorable prognosis. Inhibition of NPM-ALK by HA could reactivate the p53 protein and subsequent apoptosis-related proteins and therefore induced apoptosis in ALK+ ALCL cells.ConclusionOur results suggest that these seven proteins might be involved in apoptosis regulation and associated with clinical outcome of ALK+ systemic ALCLs. We also reveal a dynamic chain relation that NPM-ALK regulates p53 expression and subsequent apoptosis cascade in ALK+ ALCLs.     

Supernumerary chromosome marker Der(22)t(11;22) resulting from a maternal balanced translocation

Derivative 22 [der(22)] syndrome is a rare disorder associated with multiple congenital anomalies including pre-auricular skin tags or pits, conotruncal heart defects, and profound mental retardation. Der(22)t(11;22) is one of the causes of supernumerary chromosome markers (mar) in humans. We present a boy with developmental delay and multiple anomalies consistent with the supernumerary der(22) syndrome. Cytogenetic analysis showed an abnormal chromosome complement of 47, XY, +mar in all 50 cells analyzed. The karyotype of his mother showed a reciprocal translocation over the distal bands 11q23 and 22q11, respectively, i.e., 46,XX,t( 11;22)(q23.3;q11.2), and that of his father was 46,XY. Thus, the nature of the supernumerary chromosome markers was of der(22)t(11 ;22)(q23.3;q11.2). The clinical features, including craniofacial dysmorphism, hypotonia, psychomotor retardation, heart defects, and urogenital anomalies, were the combined effects of partial trisomies for both distal 11q and pericentromeric 22q.     

Prenatal diagnosis of nonmosaic tetrasomy 9p by microdissection and FISH: case report

Marker chromosome （mar） is a structurally abnormal chromosome that can not be identified with conventional cytogenetic techniques （ISCN, 2005）. The incidence of supernumerary marker chromosomes （SMCs） found at prenatal diagnosis varies from 0.4/1000 to 1.5/1000. Their genetic effects may range from harmless to detrimental, and in de novo cases, the rate of phenotypic abnormalities is statistically increased. Therefore, identification of SMCs has become imperative in prenatal diagnosis.     

伴有t(4;16)(q11;p12)非朗格汉细胞组织细胞增多症——首例报道并文献复习

【】 目的 报道1例伴t(4;16)(q11;p12)累及骨髓的非朗格汉细胞组织细胞增多症。方法 对1例非朗格汉细胞组织细胞增多症进行血象、生化、骨髓形态、病理免疫组化、染色体核型和分子生物学检测,并进行多项影像学测评,并复习相关文献。结果 发现1例侵犯骨髓的非朗格汉细胞组织细胞增多症,骨髓检查见到大量组织细胞,组织化学染色CD68 (+)、S100 (+++)、CD1a (-),染色体t(4;16)(q11;p12),BRAF V600E、N-RAS突变检测阴性,同时有皮肤、肝脾、骨骼、骨髓、中枢神经系统以及眼底浸润。结论 非朗格汉细胞组织细胞增多症可以多系统累及,并伴有异常染色体改变,临床意义值得探讨。     

Primary hepatic carcinosarcoma: a case report

Primary hepatic catcinosarcoma is defined as a malignanl hepatic tumour containing both carcinomatotis and sarcomatous elements,Strictly,it should be distinguished from collision tumtour and carcinoma with foci of spindlcshaped epithelial cells.Primary hepatic carcinosarcoma is rare,and less than 11 adequdtely doeunyented eases have been reported.In this aricle,a case of primars hepatie earcinosarcoma was diseussed as to its potential histogenesis.     

仅由t(10;12)(q24;p13)异常所致的难治性急性髓细胞白血病首例报道和文献回顾

Rearrangements involving chromosome region at 12p13 are common abnormalities in hematological malignancies, including myeloid and lymphoid types. ETV6 gene is usually involved in the 12p13 region. ETV6 rearrangements are more often observed in acute lymphoblastic leukemia than in acute myeloid leukemia (AML), where ETV6 gene deletions are more common than rearrangements.Here, we report an AML case with the recurrent t(10;12) (q24;p13) as the sole abnormality. Fluorescence in situ hybridization with mapping back to metaphases confirmed that the ETV6 gene splits, and rearranges with a locus at 10q24. In review of the literature, this is the first report of AML case with the novel abnormality as the sole change. Complete laboratory findings from bone marrow examination, flow cytometry analysis, cytogenetie studies, molecular analysis, and clinical features are also described in the report.     

以弥漫性肺囊性病变伴咯血为表现的干燥综合征1例报告及文献复习

目的：探讨1例干燥综合征（SS）患者的诊疗过程并结合相关文献复习,分析SS患者的临床特征,提高临床医生对SS罕见临床症状影像学特征的认识。方法：患者,女性,23岁,因呼吸困难伴咳嗽、咳痰1个月,咯血3 d就诊,查体显示睑结膜苍白,无其他明显阳性体征。胸部CT显示双肺多发囊样改变,行支气管镜活检、唇腺活检及风湿系列等其他相关检查,并给予相关治疗。结果：患者最初考虑诊断为淋巴管平滑肌瘤病（LAM）。通过相关检查最终确诊为SS,并给予口服糖皮质激素及免疫抑制剂治疗。患者经过治疗,病情好转,呼吸困难减轻,无咯血,肺弥散功能明显好转,2个月后复查患者胸部CT较治疗前无明显变化。结论：SS患者中伴有双肺多发囊样病变者罕见。SS多发生于育龄期妇女,应与LAM相鉴别。     

染色体4号长臂和9号短臂移位的遗传分析

目的 探讨母子4号和9号染色体移位的遗传效应。方法 无菌采集外周血,采用微量淋巴细胞培养法进行染色体制作,G显带分析染色体核型,并通过调查病史分析其遗传效应。结果 母亲染色体核型为46,XX,t（4;9）（q31;p24）,其子染色体核型为46,XY,der（9）t（4;9）（q31;p24）mat。其子的异常9号染色体是由母亲遗传而来。结论 母亲为染色体平衡移位携带者,患儿的异常9号染色体为母源的,该母亲出生正常后代的几率仅为1／18,故加强婚前和产前染色体检查对预防染色体病儿出生意义重大。     

双侧下颌第二磨牙阻生伴牙旁囊肿1例报告并文献复习

目的：探讨1例双侧下颌第二磨牙阻生伴牙旁囊肿的病因及治疗,为其诊治提供参考。方法：患者囊肿累及左下颌第一磨牙,术前行根管治疗,局麻下拔除左下颌第二磨牙,刮匙刮除病变区残余牙囊、肉芽组织及囊肿壁,球钻打磨创腔及尖锐骨创缘,并磨除左下颌第一磨牙远中部分根尖,术中取组织行组织病理学检查。结果：X线片可见双侧下颌第二磨牙近中阻生,左下颌第二磨牙冠周有一边界清楚类圆形密度减低区,邻牙牙根吸收。术后病理回报示牙旁囊肿。结论：牙齿阻生伴牙旁囊肿可发生于除第三磨牙以外的其余牙位,其诊断需结合临床表现、病理和影像学检查,多学科会诊有利于其诊断和治疗。     

首发症状为咳血的原发性支气管淋巴瘤1例报告并文献复习

通过对天津中医药大学第一附属医院肿瘤科收治的1例首发症状为咳血的支气管淋巴瘤患者的诊疗经过进行报道,并结合文献复习以进一步提高临床医生对原发性支气管淋巴瘤的认识,减少临床对这类疾病的误诊或漏诊。