慢性B淋巴细胞增殖性疾病各亚型的鉴别诊断

目的 总结慢性B淋巴细胞增殖性疾病（BCLPD）各亚型鉴别诊断的特点.方法 回顾性分析10例BCLPD患者的临床资料.结果 通过骨髓细胞形态、骨髓活组织检查切片、骨髓细胞免疫分型、染色体核型分析、荧光原位杂交、分子生物学等方法诊断各种BCLPD,其中脾边缘区淋巴瘤4例,套细胞淋巴瘤2例,慢性淋巴细胞白血病4例.结论 流式细胞免疫分型对BCLPD的鉴别诊断具有重要的价值,少数免疫表型不典型的BCLPD可通过结合组织病理学、遗传学、分子生物学检查进行鉴别诊断.     

淋巴瘤与淋巴组织反应性增生鉴别诊断的研究进展

淋巴组织反应性增生与淋巴瘤在治疗和预后方面有很大的不同.临床上,尤其在病理上,明确鉴别两者有时很困难.近些年,随着分子生物学技术的发展,从免疫组织化学和遗传学等方面对两者的研究增多,为我们提供一些新的鉴别依据.     

淋巴瘤与淋巴组织反应性增生鉴别诊断的研究进展

淋巴组织反应性增生与淋巴瘤在治疗和预后方面有很大的不同。临床上，尤其在病理上，明确鉴别两者有时很困难。近些年，随着分子生物学技术的发展，从免疫组织化学和遗传学等方面对两者的研究增多，为我们提供一些新的鉴别依据。     

霍奇金淋巴瘤病理诊断的新观点

WHO2001年新的淋巴造血系统肿瘤分类反映了最近10余年来对霍奇金淋巴瘤研究和诊断的新认识,并且影响到对其的治疗。参照近年来的文献对霍奇金淋巴瘤组织学新分型、免疫组织化学和分子遗传学改变以及临床表现进行总结,强调霍奇金淋巴瘤实质上是一种特殊的B细胞淋巴瘤,对于其诊断和鉴别诊断进行详尽地描述,以供病理学家和血液学和肿瘤学临床医师参考。     

论恶性淋巴瘤分类研究的重要性

论恶性淋巴瘤分类研究的重要性许良中恶性淋巴瘤（ＭＬ）是一组来源于淋巴造血组织的恶性病变，近年来发病率呈逐渐上升趋势。ＭＬ的特点是形态多变，分类复杂，临床病理诊断困难。近十几年来，免疫病理学、分子病理学和分子遗传学等新技术广泛应用，恶性淋巴瘤的临床病理...     

慢性粒细胞白血病髓外淋巴结急性变一例并文献复习

目的：提高对慢性粒细胞白血病（CML）急性变的认识。方法报道1例以髓外淋巴结为首发的 CML 急性变患者,结合该例患者的实验室检查、骨髓及淋巴结免疫组织化学检测、遗传学检测等结果进行综合分析。结果该例患者曾被误诊为淋巴母细胞性淋巴瘤,骨髓表现为典型的 CML 慢性期,淋巴结表现为急变期,大部分呈淋巴母细胞分化,少量呈髓系分化。具有特征性费城染色体及 bcr-abl 融合基因阳性。结论 CML 慢性期患者发生髓外淋巴结急性变少见,正确诊断需结合临床,并综合应用形态学、细胞遗传学、免疫组织化学及分子生物学等多种诊断技术。     

胃MALT型淋巴瘤的临床病理诊断和研究进展

黏膜相关淋巴组织(MALT)型淋巴瘤是一型最常见的结外低度恶性淋巴瘤，具有独特的组织学特征和临床生物学行为。2001年WHO新的分类将其列为一个独立类型，其中胃MALT淋巴瘤最为常见，常被作为这组疾病的典型来表述MALT淋巴瘤的特征。就其病因学、临床特点、组织学特征及诊断、免疫组化及分子遗传学研究进展进行综述。     

流式细胞免疫表型分析在淋巴瘤诊断中的应用

流式细胞术发明于20世纪70年代，近年来在淋巴造血系统肿瘤的诊治应用中优势显著。2001年更新的WHO淋巴瘤分类标准依据形态学、免疫学表型、临床特征以及分子遗传学异常而界定的分类诊治体系中，进一步确立了应用免疫表型鉴定在淋巴瘤分类诊断中的重要地位。流式细胞免疫表型（flow cytometric inmmnophenotyping，FCI）检测以其快捷、敏感及多参数定量分析等优点已成为目前国际上恶性淋巴瘤分类诊断的重要手段，并在淋巴瘤的治疗和提示预后方面发挥重要作用。     

胃外周Ｔ细胞淋巴瘤误诊２例

外周T细胞淋巴瘤,非特殊类型(peripheral T-cell lym-phoma,not otherwise specified,PTCL-NOS)是2008年WHO淋巴肿瘤病理分类中一个较新的亚型。病因不清,其诊断需结合临床、病理、免疫及遗传学特征,并排除其它特指型T细胞     

儿童急性髓系白血病合并淋巴母细胞淋巴瘤一例并文献复习

目的:提高对儿童急性髓系白血病（AML）合并淋巴母细胞淋巴瘤（LBL）的认识。方法:回顾性分析郑州大学第一附属医院2016年4月收治的1例AML合并LBL患儿的临床特点、诊断方法、治疗方案及预后,并复习相关文献。结果:患儿,男性,11岁,以发热、血象异常、颈部淋巴结肿大为临床表现,行颈部淋巴结活组织检查,诊断为T淋巴母细胞淋巴瘤（T-LBL）。经骨髓细胞形态学、免疫学、遗传学及分子生物学（MICM）分型检查,诊断为AML。患儿同时符合两种疾病诊断标准,确诊为AML合并T-LBL。按AML方案进行化疗,达到完全缓解并无病生存。结论:AML合并LBL在儿童中极为罕见,诊断主要依靠骨髓MICM分型检查及淋巴结病理学检查,目前无标准治疗方案,预后极差,按AML方案化疗后桥接造血干细胞移植可作为此类患者的最佳治疗选择。     

Molecular and genetic markers in the local-regional management of breast cancer

The clinical application of molecular markers in the diagnosis, staging, and management of breast cancer continues to expand. Although the use of molecular markers in local-regional disease does not approach the level of their application in the systemic management of breast cancer, a growing body of rature supports the potential for molecular and genetic factors in clinical decision making regarding the local-regional management of breast cancer. As with conventional clinical and histopathologic factors, data regarding molecular and genetic factors as they relate to local-regional relapse may be conflicting and are subject to the usual limitations of predominantly retrospective studies. There are, however, some consistent data suggesting associations between local-regional control of disease and several molecular markers, including hormone receptor status, HER2/neu, p53, proliferative markers, and others. Interpretation of these data and how to use this information in clinical practice remains challenging. The available rature regarding the use of genetic and molecular markers in the local-regional management of breast cancer is summarized in this review.     

膀胱移行细胞癌的遗传学研究现状

膀胱移行细胞癌的遗传学研究主要围绕肿瘤的形成、诊断、治疗以及预后判断等方面进行,发现膀胱移行细胞癌的形成至少存在2条遗传学通路。由于膀胱移行细胞癌的遗传学改变缺乏特异性,利用单一遗传学改变诊断膀胱移行细胞癌敏感性低,采用多个遗传学指标诊断膀胱移行细胞癌可提高其敏感性,已有基因组水平的试剂盒应用于临床诊断。研究还发现一些可能与预后判断相关的遗传学改变。基于遗传学的诊断、分子分型和个体化治疗是今后研究的方向。     

Understanding the Revised Fourth Edition of the World Health Organization Classification of Tumours of the Central Nervous System (2016) for Clinical Decision-making: A Guide for Oncologists Managing Patients with Glioma

The recognition of specific molecular prognostic factors has altered the management of primary brain tumours over the past decade. These factors have allowed stratification of morphologically similar tumours into different prognostic groups and are now also being used to determine clinical trial eligibility. Many of these factors have been included in the revised fourth edition of the World Health Organization (WHO) Classification of Tumours of the Central Nervous System, released in May 2016. This revised edition places greater emphasis on molecular testing and, for certain tumour types, molecular testing is required for diagnosis. Many pathology departments have also adopted the four-tiered report format suggested in the Haarlem guidelines, and provide a final ‘integrated diagnosis’ incorporating a morphological diagnosis, the WHO grade and molecular findings. Pathologists need to perform and report these molecular tests in a timeframe that is relevant for clinical decision-making. Clinicians need to understand and incorporate these changes into their daily practice, as they have direct effects on both the type and intent of therapeutic interventions.     

Nuances of Morphology in Myelodysplastic Diseases in the Age of Molecular Diagnostics

Morphologic dysplasia is an important factor in diagnosis of myelodysplastic syndrome (MDS). However, the role of dysplasia is changing as new molecular genetic and genomic technologies take a more prominent place in diagnosis. This review discusses the role of morphology in the diagnosis of MDS and its interactions with cytogenetic and molecular testing. Recent changes in diagnostic criteria have attempted to standardize approaches to morphologic diagnosis of MDS, recognizing significant inter-observer variability in assessment of dysplasia. Definitive correlates between cytogenetic/molecular and morphologic findings have been described in only a small set of cases. However, these genetic and morphologic tools do play a complementary role in the diagnosis of both MDS and other myeloid neoplasms. Diagnosis of MDS requires a multi-factorial approach, utilizing both traditional morphologic as well as newer molecular genetic techniques. Understanding these tools, and the interplay between them, is crucial in the modern diagnosis of myeloid neoplasms.     

Genetic detection of free cancer cells in the peritoneal cavity of the patient with gastric cancer: present status and future perspectives

The purpose of this review is to examine the current status and future perspectives of the molecular analysis of peritoneal lavage fluid in patients with gastric cancer. During the past 10 years, the polymerase chain reaction (PCR) has been applied for the molecular detection of free cancer cells in the abdominal cavity of patients with gastric cancer, and its clinical significance in establishing the presence of peritoneal dissemination has been assessed by several groups especially in Japan. The majority of these studies have confirmed the predictive value of the molecular detection of peritoneal metastasis and recurrence using peritoneal lavage fluid. Based on these findings, since April 2006, the genetic diagnosis of body fluids has been included in the Japanese Government public health insurance program for patients with solid tumors. However, there are still many obstacles to overcome before the genetic diagnosis of micrometastasis can be considered a routine laboratory assay. Here we review the importance of the molecular detection of cancer cells in the abdominal cavity, and the molecular techniques used for such diagnosis; we also provide some clinical examples to illustrate the value of molecular diagnosis.     

急性混合细胞白血病诊治研究进展

急性混合细胞白血病(MPAL)是一种比较罕见的高危白血病,可能起源于多功能造血干细胞.目前MPAL发病机制尚不明确,主要依靠免疫表型分析和分子遗传学诊断.在治疗上主要根据免疫表型和遗传学特征给予淋系和(或)髓系诱导方案化疗,异基因造血干细胞移植可能是唯一治愈MPAL的方法.MPAL预后较其他急性白血病差,更深入地了解这些表型遗传的相关临床变化及生物学意义,明确其发病机制,能够更好地预防、治疗该病.     

SEOM clinical guidelines for anaplastic gliomas (2017)

The SEOM/GEINO clinical guidelines provide recommendations for radiological, and molecular diagnosis, treatment and follow-up of adult patients with anaplastic gliomas (AG). We followed the 2016 WHO classification which specifies the major diagnostic/prognostic and predictive value of IDH1/IDH2 missense mutations and 1p/19q codeletions in AG. The diagnosis of anaplastic oligoastrocytoma is discouraged. Surgery, radiotherapy and chemotherapy with PCV or TMZ are the first-line standard of care for AG with slight modifications according to molecular variables. A multidisciplinary team is highly recommended in the management of these tumors.     

Cytogenetics and molecular genetics of childhood leukemia

Childhood leukemia is the commonest form of childhood cancer and represents clonal proliferation of transformed hemopoietic cells as a result of genetic changes. Molecular characterization of these changes, in particular chromosomal translocations, has yielded a wealth of information on the mechanisms of leukemogenesis. These findings have also allowed the development of sensitive assays for the identification of underlying molecular defects, which is applicable to disease diagnosis and to monitor response to treatment. Genetic alterations in childhood leukemia are powerful prognostic indicators. TEL-AML1 fusion and hyperdiploidy >50 chromosomes are associated with a good prognosis in childhood acute lymphoblastic leukemia, whereas BCR-ABL fusion and MLL rearrangements are associated with a poor prognosis. Hence cytogenetic and molecular genetic classification of childhood leukemia will significantly improve the ability of clinicians to predict therapeutic response and prognosis, which paves the way for risk stratification based on clinical and genetic features. Finally, deciphering of genetic lesions in leukemia has allowed elucidation of the molecular basis of current treatment, as typified by the success of all-trans retinoic treatment in acute promyelocytic leukemia, and has identified targets for novel therapeutic approaches. It is envisaged that efforts in characterization of molecular defects in childhood leukemia will ultimately be translated into better clinical outcome for patients.     

Molecular genetic diagnosis of familial tumors

Recent advances in molecular biology have identified the responsible genes for many hereditary cancer syndromes (familial tumors). Therefore, now, the final diagnosis of familial tumors can be done by molecular methods to detect the genetic alteration in the disease-causing responsible gene(s) in the patient. So-called genetic testing is now available, not only as the diagnosis in the proband but also as the pre-symptomatic carrier diagnosis for unaffected family members. However, a number of issues, including legal, ethical, social, psychological, economic, and technical ones, surround and inhibit the clinical application of this testing, especially in Japan. As for molecular analysis to detect possible mutation in clinical specimens, highly sensitive scanning and detection methods are indispensable for screening nucleotide substitutions, including point mutations and single-nucleotide polymorphisms (SNPs). Also, several methods have been developed to screen and confirm the genetic alterations in familial tumors. These analytical techniques for detecting genetic alterations are categorized into four types, involving (1) scanning of nucleotide substitutions, (2) detection of defined mutations or SNPs, (3) size determination, and (4) DNA sequencing. Each technique has its advantages and disadvantages, and the technique in each case should be selected according to the purpose of the analysis. In this article, the concept of molecular diagnosis in familial tumors and the related molecular methods are described.