骨髓活检塑料包埋技术与骨髓涂片在MDS诊断中联合应用的临床研究

目的 将骨髓活检塑料包埋技术与骨髓涂片二者结合,研究骨髓增生异常综合征(Myelodysplastic syndrome,MDS)的病态造血情况.方法 利用骨髓活检塑料包埋技术与骨髓涂片对临床已诊断的48例MDS病人的骨髓造血情况作一总结和分析.结果 在48例MDS病例中,骨髓涂片与骨髓活检塑料包埋超薄切片诊断相吻合的有35例,另有13例有所差异.绪论把骨髓活检塑料包埋超薄切片技术和骨髓涂片检查相结合,互为补充,能更全面的反映骨髓增生异常综合征(MDS)的病理改变.但是这两种方法也有它们的局限性.     

骨髓活检塑料包埋技术与骨髓涂片在MDS诊断中联合应用的临床研究

目的将骨髓活检塑料包埋技术与骨髓涂片二者结合,研究骨髓增生异常综合征（Myelo dysplastic syndrome,MDS）的病态造血情况。方法利用骨髓活检塑料包埋技术与骨髓涂片对临床已诊断的48例MDS病人的骨髓造血情况作一总结和分析。结果在48例MDS病例中,骨髓涂片与骨髓活检塑料包埋超薄切片诊断相吻合的有35例,另有13例有所差异。结论把骨髓活检塑料包埋超薄切片技术和骨髓涂片检查相结合,互为补充,能更全面的反映骨髓增生异常综合征（MDS）的病理改变。但是这两种方法也有它们的局限性。     

骨髓涂片和骨髓活检在骨髓增生异常综合征诊断中的意义

对33例初诊骨髓增生异常综合征病人的骨髓涂片及骨髓活检进行分析,表明涂片在初诊筛选中能对MDS作出诊断,而骨髓活检对判断增生度,显示各系病态造血,提供预后信息及确诊MDS合并骨髓纤维化中意义重大,后者对前者起补充、修正的作用.     

骨髓增生异常综合征形态学在诊断中的临床意义

目的：探讨外周血、骨髓细胞检查和骨髓活检的形态学改变在骨髓增生异常综合征（MDS）诊断中的临床意义,以提高其诊断的准确性。方法：对我院2006年-2008年91例患者临床和血液学特征进行回顾性分析。结果：91例中,外周血象全血细胞减少42例（46．1％）,2系细胞减少31例（34．1％）,分类可见有核红细胞63例（69．2％）,原始细胞21例（23．1％）,血小板减少67例（73．6％）。骨髓细胞学检查：增生极度活跃至活跃76例（83．5％）,增生减低15例（16．5％）,1系～2系病态造血73例（80．2％）。骨髓活检：87例中增生极度活跃至活跃69例（79.3％）,增生减低18例（20．7％）,3系有不同程度的病态造血72例（82．8％）。结论：MDS形态学改变复杂、诊断困难、缺乏特异性,外周学检查对MDS的分型提供依据,骨髓细胞检查和骨髓活栓两种方法各有所长,联合应用更有助于MDS的准确诊断。     

细胞免疫表型对确定骨髓增生异常综合征髓系病态的作用

目的 探讨细胞免疫表型分析在确定骨髓增生异常综合征（MDS）患者是否存在髓系细胞异常中的价值.方法 以具有外周血一系以上血细胞减少、且骨髓原始细胞数＜5％的患者为研究对象,以免疫性血小板减少患者为对照,回顾性分析流式细胞术中患者骨髓髓系细胞的免疫表型,观察粒细胞群和单核细胞群SSC强度是否异常,是否存在抗原跨阶段表达、抗原跨系列表达和分化抗原表达异常,并与细胞形态学粒系病态造血的结果进行比较.结果 在符合研究条件的255例患者中,有127例确定诊断为低危MDS、95例为非MDS,另有33例为意义未明血细胞减少（ICUS）.在MDS患者中,髓系免疫表型异常的检出率（85.8％）显著高于形态学病态造血检出率（57.5％）（P=0.000）;在非MDS患者中,具有髓系免疫表型异常的比例（1.1％）显著低于形态学病态造血比例（4.2％） （P =0.042）;ICUS患者虽然形态学无病态造血,但48.5％的患者具有髓系免疫表型异常.结论 细胞免疫表型分析对髓系异常的确定,有助于MDS的早期诊断和鉴别诊断.     

骨髓增生异常综合征组织中血管新生和凋亡相关蛋白的检测及其临床意义

目的探讨骨髓增生异常综合征(myelodysplastic syndromes,MDS)患者骨髓组织中CD34阳性细胞数、微血管密度(microvessel density,MVD)和凋亡相关蛋白FasL、Bcl-2的表达及其临床意义。方法收集31例MDS患者骨髓活检的石蜡标本,分成两组:A组包括难治性贫血(RA)与环状铁粒幼细胞增多性难治性贫血(RAS)共12例,B组为原始细胞增多性难治性贫血(RAEB)19例,10例缺铁性贫血患者为对照组。采用免疫组化法检测MDS患者及对照组骨髓组织中的微血管密度、CD34、FasL和Bcl-2的蛋白表达状况。结果 MDS患者的MVD值高于对照组,A组与对照组间无差异(P0.05),而A组与B组间MVD值差异有显著性(P0.05)。CD34在B组MDS的单个核细胞表达,阳性率为10.5%±3.4%;而在A组以及对照组MDS骨髓CD34阳性细胞率分别为3.6%±1.5%、0.4%±0,明显低于高危MDS组,两组间差异有统计学意义(P0.05)。A组MDS及对照组骨髓中有核细胞Bcl-2阳性细胞表达率与B组相比明显减少,二者差异存在统计学意义(P0.05)。FasL正相反,A组MDS高表达,而B组表达较低,两组差异明显(P0.01)。结论异常的血管新生及骨髓细胞凋亡受阻可能参与了MDS骨髓造血异常的病理生理过程,在MDS的发生、疾病进展中发挥重要作用。骨髓组织切片多个指标联合免疫标记对于MDS诊断、预后评估具有一定作用。     

骨髓间充质干细胞在骨髓增生异常综合征中的研究进展

骨髓增生异常综合征(MDS)是以无效造血并伴有向急性髓系白血病(AML)转化的风险为特点的异质性造血系统的恶性肿瘤。骨髓间充质干细胞(MSCs)的功能异常在疾病的进展和转化中发挥了重要的作用。与正常MSCs相比,MDS患者的MSCs在遗传学、表观遗传学、分化和功能等方面均存在差异,而且骨髓活检中MSCs密度增加是MDS的不良预后因素,其支持正常造血的能力下降,有利于克隆细胞生存并向AML转化。对MDS发病机制关键特点加深认识有助于推进产生新的治疗方式。     

B65-01型骨髓活检穿刺针#26在骨髓活检术中的应用

目的与方法采用B65—01型#26骨髓活检针在50例全血细胞减少病人于髂后上棘取骨髓活组织进行病理观察。结果50例全血细胞减少患者骨髓活检结果提示：多数骨髓增生程度为活跃或明显活跃,少数增生低下,诊断以MDS最多见占50％,慢性再生障碍性贫血10例、早期低增生性白血病5例、多发性骨髓瘤5例、骨髓纤维化3例,诊断不确定需结合临床分析者2例。结论经B65-01型#26骨髓活检针取骨髓活组织观察,得出骨髓活检术能正确反应骨髓组织结构、细胞分布情况,评价在全血细胞减少症中的诊断价值很重要。     

小儿血液病骨髓针刺活检临床病理学分析

目的：探讨小儿骨髓活检特点及其病理诊断意义。方法：对比分析３６１例有血液病临床表现的患儿骨髓针刺抽吸涂片和活组织检查结果。结果：比较两种检查方法，在判断增生程度时存在显著差别。活检可以提高再生障碍性贫血、血小板减少性紫癜、骨髓异常增生综合征和转移性恶性肿瘤的诊断率。结论：骨髓活检对造血系疾病诊断可提供有力证据。     

骨髓增生异常综合征患者临床特征分析

目的 探讨细胞形态学检查、流式细胞术、细胞遗传学对MDS诊断分型的作用。方法 以2016年WHO对MDS诊断分型标准为主要参考,回顾性分析安徽医科大学附属安徽省立医院2013年5月~2017年的12月收治住院的120例成人MDS患者的临床症状、血常规、骨髓细胞学、骨髓病理、免疫表型、细胞遗传学方面的特点。结果 120例MDS患者,根据2016年WHO分类,有2例（1.67%）患者符合MDS伴单系病态造血 (MDS-SLD);有27例（22.50%）患者符合MDS伴多系病态造血 (MDS-MLD),各有3例（2.50%）和4例（3.33%）患者符合MDS伴环状铁粒幼红细胞伴单系发育异常（MDS-RS-SLD）和MDS伴环状铁粒幼红细胞伴多系发育异常（MDS-RS-MLD）,各有 34例（28.33%）和43例（35.83%）是MDS-EB-1和MDS-EB-2;2例（1.67%）单纯5q-的MDS;有5例（4.17%）患者MDS未分类。结论 骨髓细胞形态学和外周血指标仍是MDS诊断的金标准,临床症状、血常规、骨髓细胞学、骨髓病理、免疫表型、细胞遗传学的综合考虑更有利于MDS的分型诊断,并对治疗、预后判断有重要指导价值。     

Value of long-core biopsy in the detection of discrete bone marrow lesions

A series of 256 bone marrow biopsy specimens was obtained at different times from a group of patients with acute myeloid leukaemia, chronic granulocytic leukaemia and acute lymphoblastic leukaemia, and was analysed in parallel with peripheral blood smears and bone marrow aspirate samples. In five of these biopsy specimens the bone marrow lesion was discrete, deeply seated within the marrow cavity and detected only in long-core biopsies. Neither peripheral blood nor bone marrow aspirates obtained at the same time established the correct diagnosis. This suggests that when peripheral blood and bone marrow aspirate samples fail to indicate the diagnosis a long-core biopsy may yield positive results.     

Bone marrow biopsy changes in acute myeloid leukaemia I: observations before chemotherapy

Pretreatment bone marrow trephine biopsy sections (BMB) from 34 patients with acute myeloid leukaemia (AML) were studied in parallel with bone marrow aspiration smears and peripheral blood films. In four cases marrow aspiration was inadequate and in five cases it was unsatisfactory. In two other cases hypoplastic AML was diagnosed, the aspirate in one suggested hypercellularity and in another it was unsatisfactory. Trephine biopsy was superior to aspiration for the evaluation of fat and marrow cellularity, pattern and extent of blast cell infiltration, homogeneity of the leukaemic infiltrate, frequency of mitoses, residual haemopoietic activity and presence of inflammatory cells. Of the various features studied in the sections, the presence of an increased number of plasma cells and considerable myelodysplasia (MD) appeared to be unfavourable prognostic features. We conclude that trephine biopsies are essential for the diagnosis of hypoplastic AML and are most useful when marrow aspiration is either inadequate or unsatisfactory. They also provide additional information about the bone marrow changes in AML and suggest that some histological features may also have prognostic significance.     

Prominent gelatinous bone marrow transformation presenting prior to myelodysplastic syndrome: a case report with review of the literature

Gelatinous bone marrow transformation (GMT) is a rare disorder characterized by the presence of fat cell atrophy, loss of hematopoietic cells, and deposition of extracellular gelatinous materials. GMT is not a specific disease, but is strongly associated with malnutrition and drugs. Albeit extremely rare, GMT has been reported in patients with myeloproliferative disorders. Herein, we report the second documented case of hypoplastic myelodysplastic syndrome (MDS) accompanying GMT. A 73-year-old Japanese male with excellent nutrition status and no history of alcohol or drug intake was detected with pancytopenia. The initial bone marrow aspirate specimen reveled hypocellular marrow without dysplastic signs in the myeloid cells. Bone marrow biopsy demonstrated hypocellular bone marrow with prominent GMT. He received blood transfusions, however, pancytopenia continued to progress. The second bone marrow aspirate specimen showed dysplastic changes, such as pseudo-Pelger-Huët cells, hypogranular or agranular granulocytes, and megakaryocytes with multiple small nuclei. Cytogenetic study demonstrated deletion of chromosome 7. Therefore, an ultimate diagnosis of hypoplastic MDS accompanying GMT was made. Only a limited number of cases of myeloproliferative disorders with GMT have been reported. Our analysis of these cases revealed that chromosome 7 abnormality is frequently observed in this condition. Moreover, findings from the current case suggested that myeloproliferative disorders including MDS must be included in the differential diagnostic considerations of GMT patients, who have no history of malnutrition or drugs, and careful examination of the bone marrow smear specimen and cytogenetic analysis are necessary for early detection of underlying myeloproliferative disorders.     

Assessment of bone marrow plasma cell infiltrates in multiple myeloma: the added value of CD138 immunohistochemistry

Assessment of bone marrow involvement by malignant plasma cells is an important element in the diagnosis and follow-up of patients with multiple myeloma and other plasma cell dyscrasias. Microscope-based differential counts of bone marrow aspirates are used as the primary method to evaluate bone marrow plasma cell percentages. However, multiple myeloma is often a focal process, a fact that impacts the accuracy and reliability of the results of bone marrow plasma cell percentages obtained by differential counts of bone marrow aspirate smears. Moreover, the interobserver and intraobserver reproducibility of counting bone marrow plasma cells microscopically has not been adequately tested. CD138 allows excellent assessment of plasma cell numbers and distribution in bone marrow biopsies. We compared estimates of plasma cell percentages in bone marrow aspirates and in hematoxylin-eosin- and CD138-stained bone marrow biopsy sections (CD138 sections) in 79 bone marrows from patients with multiple myeloma. There was a notable discrepancy in bone marrow plasma cell percentages using the different methods of observation. In particular, there was a relatively poor concordance of plasma cell percentage estimation between aspirate smears and CD138 sections. Estimates of plasma cell percentage using CD138 sections demonstrated the highest interobserver concordance. This observation was supported by computer-assisted image analysis. In addition, CD138 expression highlighted patterns of plasma cell infiltration indicative of neoplasia even in the absence of plasmacytosis. We conclude that examination of CD138 sections should be considered for routine use in the estimation of plasma cell load in the bone marrow.     

Significance of bone marrow fibrosis in multiple myeloma

AIMS: The aim of the current study was to asses the frequency of increased fibrosis in myeloma and to find its correlation with other bone marrow parameters and survival. METHODS: Forty-four multiple myeloma patients diagnosed between 2001 and 2005 were included in the present study. A detailed study of the bone marrow aspiration smears and trephine biopsy was done. Bone marrow fibrosis was graded and correlated with other parameters like plasma cell morphology, pattern of infiltration, mitotic activity and also with the survival of the patients. RESULTS: Increased fibrosis was seen in nine cases (20.5%). It was observed that plasma cell burden in the marrow was under-estimated in the aspirate smears compared with the trephine biopsy in patients with increased fibrosis. Increased marrow fibrosis correlated significantly with poorly differentiated plasma cell morphology (p = 0.020) and mitotic activity (p = 0.003), which by themselves are established prognostic markers for survival in multiple myeloma. Patients with increased fibrosis of the marrow also had a median survival time of just 11 months. CONCLUSIONS: A bone marrow trephine biopsy is essential in all cases of myeloma at diagnosis, as it helps identify a subset of myeloma patients with increased marrow fibrosis and poorer prognosis.     

Infiltrative myelopathy by paracoccidioidomycosis. A review and report of nine cases with emphasis on bone marrow morphology

AIMS: To report nine additional well-defined cases with infiltrative myelopathy by paracoccidioidomycosis (PCM), to describe the specific lesions and infection-related stromal abnormalities, to review the literature on this type of involvement and to introduce a new cause of granulomatous lesions of bone marrow. METHODS AND RESULTS: Different bone marrow specimens were studied (aspirated smears, aspirated clots, biopsy imprints and biopsies) from nine patients with acute or subacute forms of PCM known to have PCM infiltrative myelopathy. CONCLUSIONS: The biopsy specimens were the best for demonstrating bone marrow involvement by PCM. The lesions varied from compact and focal granulomas with few fungal cells to numerous disseminated fungal cells within a loose granulomatous inflammatory reaction, with a continuum between these extremes suggesting a spectrum of immune response to the fungi. Other findings such as bone marrow fibrosis, parenchymal coagulative necrosis and bone necrosis were also observed in the affected areas.     

Bone marrow aspiration and trephine biopsy. An approach to a thorough study.

Recent advances in the treatment of hematologic malignancies have been paralleled by renewed interest on the part of pathologists and hematologists in methods of obtaining and preparing bone marrow for diagnostic studies. A thorough bone marrow morphologic study involves examination of peripheral blood smears, direct, particle, and buffy coat bone marrow smears, trephine biopsy imprints, particle and trephine biopsy sections, and marrow volumetric data. The information obtained from the study of these various specimens is complementary. Frequently it is a combination of clues gathered from examination of several different preparations that leads to a correct diagnosis. Utilization of biopsy material by the methods described provides complete, accurate and reproducible information and minimizes the necessity for repeating a biopsy for morphologic diagnosis or ancillary studies.     

Histopathology of myelodysplastic syndromes. The FAB classification (proposals) applied to bone marrow biopsy

Twenty-eight cases of myelodysplastic syndrome (MDS) were reviewed to evaluate whether the morphologic criteria proposed by the French-American-British (FAB) Cooperative Group for marrow smears could be applied to glycol methacrylate embedded trephine biopsies. Bone marrow biopsies and marrow smears were examined separately and then compared for the following parameters: percentage of blasts, dyserythropoiesis, ring sideroblasts, dysmegakaryopoiesis, dysgranulopoiesis, monocytes, cellularity, fibrosis, and "abnormal localization of immature precursors". The results of the histologic (biopsies) and cytologic (marrow smears) examinations were in good agreement in 24 of 28 cases. The authors' results suggest that the five MDS types proposed by the FAB group can be reliably distinguished on bone marrow biopsy with knowledge of the peripheral blood blast and monocyte counts. When the bone marrow aspiration is inadequate, the biopsy can establish diagnosis and type of MDS and rules out aplasia or tumor infiltration as possible alternative causes of cytopenia.     

Topics in bone marrow biopsy pathology: role of marrow topography in myelodysplastic syndromes and evaluation of post-treatment and post-bone marrow transplant biopsies

The role of bone marrow biopsy is expanding. Bone marrow biopsy is considered a "gold standard" for assessing cellularity and infiltrative process. More recently, biopsies are increasingly used for immunohistochemical stains and molecular studies such as in situ hybridization and laser microdissection, further augmenting morphologic interpretation. Biopsies are playing a greater role in early diagnosis of myelodysplastic syndromes (MDS). Both primary and secondary MDS are increasing (5% to 12%), and can present a significant challenge in early diagnosis. Present MDS diagnostic criteria are based purely on marrow aspirate smears, peripheral blood smears, and ancillary studies, and may not be adequate in some instances. With the current understanding of marrow topography and hematopoietic microenvironment, bone marrow biopsies are greatly useful in early diagnosis and grading of MDS. Marrow biopsies also are helpful in evaluation of postchemotherapy and post-bone marrow transplant patients. Assessment of topographic alteration and certain corroborating immunohistochemical and molecular studies can only be performed on bone marrow biopsies, and these ancillary studies will contribute significantly to the understanding of hematopoietic disorders. Bone marrow biopsy, in conjunction with other modalities such as flow cytometry, will play a significant role in diagnostic hematopathology. Ann Diagn Pathol 5:110-120, 2001.