609例无精子症和少精子症患者的细胞遗传学分析

目的探讨无精子症和少精子症患者染色体畸变的发病率和特点。方法常规G显带方法对609例无精子症和少精子症患者行细胞遗传学检测。结果总的染色体异常检出率为12.8%,其中包括46例性染色体非整倍体（59%）,7例性染色体结构异常（9%）,25例常染色体结构异常（32%）。其中克氏综合征达39例,占检出性染色体非整倍体83%。在206例无精子症患者中检出42例异常核型（20.4%）,在228例严重少精子症患者中检出24例异常核型（10.5%）,在175例少精子症患者中检出12例异常核型（6.9%）。结论染色体数目异常和结构异常在无精子症和少精子症患者中常见。我们需要更加有效的检测手段提高男性不育检出率。     

Oncocytic lipoadenoma of the parotid gland: Immunohistochemical and cytogenetic analysis

Salivary gland oncocytic lipoadenoma is an exceptional benign tumor composed of mature adipose tissue associated with a mixture of oncocytes. We report a case of oncocytic lipoadenoma showing sebaceous differentiation, and provide a cytogenetic analysis, which has not yet been described. A 64-year-old male developed a left parotid gland, well-encapsulated tumor measuring 3.5×3 cm², showing mature fat cells associated with oncocytic changes of epithelial components. Immunohistochemistry showed a dual epithelial population with ductal (positivity for AE1/AE3, CK19, CK7 antibodies) and basal-cell (positivity for p63, CK14, CK5,6 antibodies) differentiation in oncocytic areas. Moreover, oncocytic cells were stained with anti-alpha-1 antichymotrypsin antibody and phosphotungstic acid–hematoxylin staining. Molecular cytogenetic analysis showed a translocation t(12;14), resulting in structural rearrangement of the region framing the HMGA2 gene at 12q14.3. Such alterations in HMGA2 have been described in both lipomas and pleomorphic adenomas of the salivary glands.     

Diagnosis of primary esophageal synovial sarcoma by demonstration of t(X;18) translocation: a case report

Synovial sarcoma (SS) is an uncommon soft tissue tumor occurring mainly in the periarticular region of the extremities of young adults. In this report, we describe a very rare occurrence of primary SS of the esophagus in a 72-year-old woman. Histologically, the tumor demonstrated biphasic morphologic findings associated with poorly differentiated areas. Tumor cells expressed vimentin, epithelial (EMA, CK7, AE1/3), bcl-2 and neuroectodermal (CD56, CD57, CD99) antigens. Differential diagnose included esophageal sarcomatoid carcinoma. Cytogenetic analysis confirmed the diagnosis of SS by identifying t(X;18) translocation. The literature of this very uncommon entity of the esophagus is reviewed.     

Prognostic and Therapeutic Impact of the Histopathologic Definition of Parenchymal Epithelial Renal Tumors

Context

In the last few years, the treatment of renal cell carcinoma (RCC) has progressed significantly, and some histopathologic issues have become important for selection and follow-up after medical and surgical therapies.

Objective

The aim of this collaborative article is to review the most recent literature on the role of traditional histopathologic features obtained from renal core biopsy or nephrectomy specimens in the management of confined, locally advanced, and metastatic RCC.

Evidence acquisition

A nonsystematic review of the literature was performed in April 2010 using the Medline database. Multiple free-text searches were performed for the following items: renal cell carcinoma, clear cell, papillary, chromophobe, histologic* subtype*, histotype*, nuclear grade*, necrosis, sarcomatoid differentiation, biopsy, molecular marker*, and cytogenetic marker*. A total of 2369 records were retrieved from Medline, and 263 full-text studies were considered and partially included in the present review. A panel of experts reached consensus on the main subheadings of this paper.

Evidence synthesis

Core needle biopsies can provide important information that is useful to avoid the overtreatment of benign tumors and to help plan watchful waiting or minimally invasive treatments in selected patients. Tumor histotype is fundamental in the pathologic report. In the context of integrated prognostic systems, the combination of the most important clinical and pathologic factors (TNM stage, Fuhrman nuclear grade, presence of necrosis, microvascular invasion, and sarcomatoid dedifferentiation) allows us to reach a high prognostic accuracy. These models can be used to select patients suitable for adjuvant protocols, to design an appropriate follow-up schedule, and to provide careful patient counseling. Molecular and cytogenetic markers should be further evaluated.

Conclusions

The histopathologic definition of parenchymal epithelial renal tumors is fundamental to plan the management and follow-up of patients with locally confined, locally advanced, and metastatic RCC.     

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.     

异常孕产史夫妇的细胞遗传学分析

目的：分析染色体异常与异常孕产史的关系。方法：检测117对异常孕产史夫妇双方外周血淋巴细胞核型。结果：异常孕产史夫妇中异常核型检出明显高于普通人群,总检出率为6.83%,其中＜孕3月流产／停止发育154例,异常11例,异常检出率为7.14%,＞孕3月流产或死胎36例,异常1例,检出率2．78％,生育先天异常儿54例,异常4例,检出率7.41%,不育不孕8例,异常2例,检出率25％。异常核型中男性9例,女性7例。结论：异常孕产史不但与染色体畸变有关,与染色体多态性也有关联。对异常孕产史夫妇进行染色体检查是必要的,可以寻找原因,为优生优育提供依据。     

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     

Subtypes of oligodendroglioma defined by 1p,19q deletions,differ in the proportion of apoptotic cells but not in replication-licensed non-proliferating cells

Oligodendrogliomas may be divided into those with deletion of chromosomes 1p and 19q (Del+), and those without (Del−). Del+ tumours show better survival and chemoresponsiveness but the reason for this difference is unknown. We have investigated whether these subgroups differ in (a) apoptotic index, (b) the proportion of cells licensed for DNA replication but not in-cycle, and (c) the relative length of G₁-phase. Fluorescence in situ hybridisation with probes to 1p and 19q was used to determine the deletion status of 54 oligodendrogliomas, including WHO grades II and III. The apoptotic index was determined using counts of apoptotic bodies. Replication-licensed non-proliferating cells were determined from the Mcm2 minus Ki67 labelling index, whilst the geminin to Ki67 ratio was used as a measure of the relative length of G₁. Del+ oligodendrogliomas showed a higher apoptotic index than Del− tumours (P = 0.037); this was not accounted for by differences in tumour grade or in proliferation. There were no differences in the Mcm2 − Ki67 index or in the geminin/Ki67 ratio between the subgroups, but grade III tumours showed a higher proportion of licensed non-proliferating cells than grade II tumours (P = 0.001). An increased susceptibility to apoptosis in oligodendrogliomas with 1p ± 19q deletion may be important in their improved clinical outcome compared to Del− tumours.     

Lipomatous tumours of soft tissues: an update

This review summarizes the clinicopathological features of recently characterized variants of lipomatous tumours of soft tissue, attempts to deal with some difficult conceptual issues relating to adipocytic neoplasms and aims to provide an update on cytogenetic aspects of fatty tumours. Myolipoma is a rare benign neoplasm, occurring most frequently in adults in the deep soft tissue of the abdomen or retroperitoneum, and is composed of irregularly admixed mature adipose and smooth muscle tissues. Chondroid lipoma represents an unusual benign lesion occurring mainly in adult females subcutaneously or in deep soft tissue; it is easily mistaken for myxoid liposarcoma or extraskeletal myxoid chondrosarcoma. Spindle-cell liposarcoma is a variant of well-differentiated liposarcoma quite commonly found in subcutaneous tissue of the shoulder region and upper limbs and is composed of relatively bland-appearing spindle cells mixed with a well-differentiated liposarcomatous component. Recently there has been considerable debate about classification of lipomatous tumours. The term atypical lipoma was proposed for a group of well-differentiated non-metastasizing liposarcomas arising in surgically amenable soft tissues and for deep-seated atypical adipocytic neoplasms that show variation in adipocytic size and atypical stromal cells but lack lipoblasts. However, these neoplasms recur repeatedly and may dedifferentiate and thereby acquire metastatic potential. We use the diagnosis atypical lipoma with caution and propose to use the terms well-differentiated liposarcoma and atypical lipoma interchangeably. The relationship between myxoid and round-cell liposarcoma, which constitutes the morphological spectrum of a single entity, has been clarified but there remain considerable problems in defining likely clinical behaviour. The recent advances in cytogenetic characterization and classification of lipomatous tumours, which is already proving to be of diagnostic importance, are reviewed, and the genetic importance of the distinct chromosomal translocation in myxoid/round cell liposarcoma is briefly discussed.