眼附属器黏膜相关淋巴组织淋巴瘤的Bcl-10基因突变研究

目的探讨Bcl-10基因在我国人群眼附属器黏膜相关淋巴组织（MALT）淋巴瘤、不典型淋巴组织增生和淋巴组织反应性增生中的表达和新突变。方法收集第二军医大学附属长征医院眼科患者新鲜冰冻组织标本31例,其中眼附属器MALT淋巴瘤23例,不典型淋巴组织增生4例,淋巴组织反应性增生4例。采用分子生物学方法获得Bcl-10基因,以双脱氧Sanger法行DNA测序,Blast比对分析后,得到突变碱基。同时行免疫组织化学检测和免疫荧光定位,用激光共焦显微镜检测Bcl-10和NF—κB的共定位情况。结果31例中,检出14例眼附属器MALT淋巴瘤有Bcl-10基因表达,其中10例发现新的基因突变。4例不典型淋巴组织增生和4例淋巴组织反应性增生中,各有1例发生新突变。免疫组织化学检测发现异常的Bcl-10基因在14例MALT淋巴瘤中均有表达（60．8％）,其中中等强度核表达为6例,弱到中等强度胞质表达为8例。2例不典型增生标本胞质中有异常Bcl-10表达,1例反应性增生标本胞质中亦见异常Bcl-10表达。免疫荧光定位发现NF—κB的反应因子Iκα在20例胞质中弥漫性表达,其中Bcl-10和Iκα共表达有14例。结论Bcl-10基因在我国人群眼附属器MALT淋巴瘤中有新的突变形式,检测到的基因突变分布与病理诊断一致。基因检测的灵敏度高于病理诊断,在尚无形态学改变及其他可供鉴别的指标下,能判断出病变阶段和性质改变,可作为早期诊断的灵敏指标之一。（中华眼科杂志,2007,43：1010—1016）     

免疫球蛋白重链基因重排检测对眼附属器淋巴增生性病变的诊断研究

目的 探讨多聚酶链反应(PCR)检测免疫球蛋白重链(IgH)基因重排在眼附属器淋巴增生性病变良恶性鉴别中的应用价值.设计 实验性研究.研究对象 32例眼附属器淋巴增生性病变存档蜡块标本.方法 应用PCR检测眼附属器淋巴增生性病变的IgH基因重排,结合常规HE染色和免疫组织化学染色结果进行分析.主要指标 组织病理形态,免疫表型特征及基因重排形式.结果 17例淋巴瘤中12例IgH基因呈单克隆性重排,阳性率为70.6%;10例反应性淋巴细胞增生中1例呈单克隆性重排,阳性率为10%.两者差异有统计学意义(P=O.004).5例不典型淋巴细胞增生中,3例基因呈单克隆性重排,支持恶性淋巴瘤的诊断;2例呈多克隆性重排,支持良性反应性增生的诊断.结论 依靠常规HE染色和免疫组织化学染色有时难以明确眼附属器淋巴增生性病变的良恶性,此时应用PCR检测病变的IgH基因重排,有助于鉴别其良恶性.(眼科,2008,17:33-36)     

眼附属器MALT淋巴瘤的临床分析

目的 探讨黏膜相关组织淋巴瘤(MALT)在眼附属器包括眼睑、眼眶、泪腺等部位的特殊临床特征与治疗方法.方法 回顾性分析32例眼附属器MALT淋巴瘤患者的临床表现、B超、CT、MRI检查结果,病理组织学和免疫组织化学结果以及综合治疗疗效与预后情况.结果 32例眼附属器MALT淋巴瘤患者中男22例,女10例;年龄23.0～74.0岁,平均年龄64.1岁.18例发生于结膜,占56.3%(18/32);9例发生于眼眶,占28.1%(9/32);5例发生于泪腺,占15.6%(5/32).B超检查肿块多表现为内回声不均匀(84.4%,27/32)或内回声高(28.1%,9/32);CT检查多表现为中等密度(43.8±10.7)HU,密度均匀(84.6%,22/26);MRI检查T1WI及T2WI多呈等信号,信号均匀.影像学检查后均行手术治疗联合放疗.随访1～12年,复发率为12.5%(4/32).结论 影像学检查可辅助诊断眼附属器MALT淋巴瘤,术后病理活体检查及免疫组织化学分型检查可确诊本病,眼附属器MALT淋巴瘤若早期诊断和治疗(手术治疗联合术后放疗)则预后较好.     

整合素连接激酶和Toll样受体-2在眼附属器黏膜相关淋巴组织淋巴瘤中的表达及其对预后的影响

目的　研究整合素连接激酶（integrin linked kinase,ILK）与Toll 样受体-2（Toll like receptors-2,TLR-2）在眼附属器黏膜相关淋巴组织（mucosa-associated lymphatic tissue,MALT）淋巴瘤中的表达及其对患者生存状况的影响。方法　收集46例(46眼)符合眼附属器MALT淋巴瘤诊断标准的患者病灶组织标本,运用免疫组织化学染色法测定其ILK 与TLR-2的蛋白表达情况,分析ILK 与TLR-2蛋白与患者临床病理特征的关系;同时探讨ILK 与TLR-2蛋白表达情况与患者预后的关系。结果　患者瘤组织中的ILK 与TLR-2蛋白表达阳性率分别为67.4%（31/46）、71.7%（33/46）。患者瘤组织中ILK、TLR-2蛋白表达阳性率均与性别、年龄、病灶部位均无关（均为P＞0.05）,均与AnnArbor临床分期相关（均为P<0.05）。ILK蛋白表达阳性患者的生存期（治疗结束至随访末期的时间）为（21.5±2.7）个月,低于ILK蛋白表达阴性患者的生存期（29.2±2.1）个月（P＜0.05）;TLR-2蛋白表达阳性患者的生存期为（20.4±1.7）个月,低于TLR-2蛋白表达阴性患者的生存期（27.6±2.3）个月（P＜0.05）。结论　ILK、TLR-2与眼附属器MALT淋巴瘤的生物学行为密切相关;联合检测ILK、TLR-2对此类疾病诊断及患者预后具有一定的指导价值。     

鼻腔鼻窦原发性非霍奇金淋巴瘤CD56表达与EBV感染的相关性研究

目的探讨鼻腔鼻窦原发性非霍奇金淋巴瘤(Non-Hodgkin's Lymphonas,NHL)CD56表达与EB病毒(Epstein-Barr virus,EBV)感染的相关性.方法采用免疫组织化学方法检测55例鼻腔鼻窦NHL CD56、CD45RO、CD3ε、CD20、CD79、Tim-1和潜伏膜蛋白1(latent membrane protein-1,LMP1);联合采用聚合酶链式反应(polymerse chain reaction,PCR)检测LMP1基因.结果LMP1蛋白阳性率为29/55(53%),PCR LMP1基因阳性率为33/55(60%),CD56阳性率为28/55(51%),EBV在CD56阳性与CD56阴性鼻腔鼻窦淋巴瘤中的感染率分别是25/28(89.3%)和13/27(48.1%),两者差异显著,P＜0.01.结论提示EBV和CD56分子的相互作用在CD56+鼻腔鼻窦原发性NHL发病中可能起重要作用.     

免疫球蛋白重链基因重排及bcl-2/JH融合基因检测眼眶淋巴细胞增生性疾病

目的：探讨检测免疫球蛋白重链（immunoglobulins heavy-chain,IgH）基因重排及bcl-2/JH融合基因在眼眶淋巴细胞增生性疾病诊断中的意义。方法：对1994年1月至1999年12月我院通过手术或活检取得的48例眼淋巴细胞增生性疾病患者眼组织的石蜡标本行光镜、免疫组织化学检查及聚合酶链反应（PCR）扩增IgH可变区第三框架区（third frame work region,FR3）基因重排及bcl-2/JH融合基因检测分析。结果：FR3重排的PCR扩增显示22例标本为淋巴细胞单克隆增生。恶性淋巴瘤、良性反应性淋巴细胞增生及淋巴细胞性炎性假瘤的阳性率分别为75．0％、40．0％及16．7％。bcl-2/JH融合基因的PCR扩增示恶性淋巴瘤的阳性率为30．0％,良性反应性淋巴细胞增生及淋巴细胞性炎性假瘤患者检查结果均为阴性。结论：PCR扩增的FR3基因重排检测对诊断眼淋巴细胞增生性疾病有重要价值;bcl-2/JH融合基因检测阳性率偏低,不宜用于临床。     

鼻腔NK/T细胞淋巴瘤LMP-1和NF-кb蛋白的表达及与细胞凋亡的关系

目的 检测鼻腔NK/T(natural killer)细胞淋巴瘤中EB(Epstein-Bart)病毒感染潜伏膜蛋白(latent membrane protein-1,LMP-1)与细胞因子κB(nuclear foctor-κB,NF-κB)的表达及细胞凋亡指数(apoptotic idex,AI),研究EB病毒与鼻腔NK/T细胞淋巴瘤的关系.方法 26例鼻腔NK/T细胞淋巴瘤为实验组,30例良性淋巴组织反应性增生病例为对照组.应用免疫组化SP法检测石蜡包埋块中LMP-1和NF-κB蛋白的阳性率,DNA末端标记技术(TUNEL)检测AI,比较这些指标在实验组和对照组中的差异,分析三者间的相互关系.结果 LMP-1检出率、NF-κB蛋白表达阳性率、AI在实验组分别为69.2%(18/26)、65.4%(17/26)、2.31±0.38;对照组分别为10%(3/30)、30%(9/30)、3.12±0.45.两组指标间差异均有统计学意义(P＜0.01).LMP-1检出率与NF-κB蛋白表达阳性率呈正相关(P=0.0010,r=0.6860),与细胞凋亡指数呈负相关(P=0.0001);NF-κB蛋白的表达与细胞凋亡率呈负相关.结论 EB病毒感染与鼻腔NK/T细胞淋巴瘤的发生及发展关系密切.     

喉鳞癌组织中bak、bcl—2和bax蛋白的表达

目的探讨促凋亡基因Pak在喉鳞状细胞癌(简称鳞癌)中的表达及其与Bcl-2、Bax之间的关系.方法采用免疫组织化学染色方法检测45例喉原发性喉鳞癌(primary laryngeal squamous cell carcinoma,PLSCC)及10例正常喉黏膜(normal laryngeal tissues,NLT)石蜡标本组织中Bak、Bcl-2和Bax蛋白的表达.结果在NLT中阳性表达率分别为Bak 100%(10/10)、Bel-2 10%(1/10)和Bax 70%(7/10);在PLSCC中的阳性表达率分别为Bak 44.4 %(20/45)、Bel-2 64.4恸(29/45)、Bak 26.7%(12/45),两组间差异均有显著性(P＜0.05);喉癌组织中Bak 蛋白的表达与肿瘤病理分级、是否有淋巴结转移显著相关(P＜0.05);与患者的性别、吸烟情况、临床分期以反Bel-2、Bax的表达无关(P＞0.05).Bel-2、Bax与肿瘤病理分级、是否有淋巴结转移、患者的性别、吸烟情况以及临床分期均无关(P＞0.05);两者间的表达明显相关(P＜0.05).结论喉癌组织中Bak基因蛋白表达的失调可能与喉癌的发生、发展有关;Bak的检测对喉鳞癌的治疗及估计预后有指导意义.     

AgNORs与C—erbB2癌蛋白的联合检测在泪腺良恶性肿瘤诊断中的价值

目的探讨核仁形成区相关蛋白(AgNORs)和癌基因蛋白C-erbB2与泪腺肿瘤细胞增殖的关系以及它们在临床病理诊断中的价值.方法应用组织化学、计算机图像分析技术和免疫组织化学技术检测57例泪腺肿瘤及10例正常泪腺组织的AgNORs4项参数和C-erbB2的表达情况.结果AgNORs颗粒面积、颗粒数在正常泪腺组、良性肿瘤组、恶性肿瘤组中依次增高,分别为(2.38±0.81)μm2/核、(4.42±1.31)μm2核、(6.31±2.21)μm2/核和(1.08±0.34)个/核、(2.61±0.86)个/核、(4.73±1.68)个/核,3组之间存在着显著性差异.恶性肿瘤组大颗粒数(＞50像素)明显高于良性组(P＜0.01).恶性肿瘤组的C-crbB2表达阳性率(60%,21/35)明显高于良性组(27%,6/22).不同组织类型的恶性肿瘤中原发性腺癌的阳性率最高(78%,7/9),腺样囊性癌表达最低(44%,8/18).结论AgNORs和C-erbB2表达均与泪腺肿瘤的良恶性程度呈正相关,联合检测有助于全面了解肿瘤增殖状况、阐明发病机理、区别良恶性肿瘤.     

慢性结膜炎患者泪液中腺病毒与单纯疱疹病毒的检测

目的 探讨慢性结膜炎患者泪液标本中腺病毒和单纯疱疹病毒的表达情况.方法 实验研究.2008年11月至2009年6月期间,在北京大学第三医院、北京大学眼科中心门诊采集81例临床确诊为慢性结膜炎(成人组66例、儿童组15例)、9例急性病毒性结膜炎及30例健康者的双眼泪液标本,采用聚合酶链反应(PCR)法特异性检测腺病毒及单纯疱疹病毒核酸的存在情况,并对PCR阳性结果结合临床症状和体征进行分析.采用两个样本例数的卡方检验.结果 在慢性结膜炎患者中,腺病毒阳性率为32.1%(26/81),单纯疱疹病毒阳性率为30.9%(25/81).在慢性结膜炎的儿童组患者中腺病毒阳性率为33.3%(5/15),单纯疱疹病毒阳性率为13.3%(2/15).成人组中腺病毒的阳性率为31.8%(21/66),单纯疱疹病毒阳性率为34.8%(23/66).在既往有急性结膜炎病史的患者中腺病毒的阳性率为61.5%(16/26),与既往无急性结膜炎病史的患者比较,差异有统计学意义(χ2=16.884,P＜0.01).单纯疱疹病毒阳性率为42.3%(11/26),与既往无急性结膜炎病史的患者比较,差异有统计学意义(χ2=5.351,P=0.021).正常阴性对照组病毒检测阳性率均为0%(0/30),阳性对照组即急性病毒性结膜炎组腺病毒阳性率为100.0%(9/9).81例慢性结膜炎患者中腺病毒和(或)单纯疱疹病毒阳性者为37例.病毒检测阳性的患者中64.9%(24/37)的患者出现眼红症状,56.8%(21/37)的患者出现眼痒症状,32.4%(12/37)的患者兼有眼红和眼痒,73.0%(27/37)的患者临床体征表现有下睑滤泡.结论 慢性结膜炎患者中腺病毒和单纯疱疹病毒的表达占有相当的比例,既往有明确感染史的患者病毒阳性率明显高于无既往感染史患者.     

BCL10 expression in ocular adnexal lymphomas

PURPOSE: To study BCL10 expression in ocular adnexal lymphoma in the US population and its association with clinical outcomes. DESIGN: Institutional, retrospective study. METHODS: Immunohistochemistry was performed with antibody against BCL10 on two tissue microarray blocks that were constructed with paraffin-embedded tissues from the same cohort of 48 patients with ocular adnexal lymphomas. The main outcomes that were measured include extraorbital involvement, recurrence rate, and time to recurrence. The median length of the follow-up period was 40 months. RESULTS: Aberrant BCL10 expression (nuclear [moderate intensity] and cytoplasmic [weak to moderate intensity] staining) was observed in 10 of 33 cases (30.3%) of mucosa-associated lymphoid tissue (MALT) lymphoma, in 4 of 10 cases (40%) of follicular lymphoma (grade 1, 9 cases; grade 2, 1 case), in 0 of 2 cases of diffused large B-cell lymphoma, in 0 of 1 case of chronic lymphocytic leukemia/small lymphocytic lymphoma and in 1 of 1 case (100%) of mantle cell lymphoma. There were no differences in clinical parameters at examination (ie, average age, gender, site of occurrence, laterality, extraorbital involvement at diagnosis), recurrence rate, and time to recurrence for patients (MALT lymphoma or follicular lymphoma) with or without aberrant nuclear BCL10 expression. CONCLUSION: Aberrant BCL10 expression can occur in other types of ocular adnexal lymphomas besides MALT lymphoma. Ocular adnexal MALT lymphoma may have slightly lower frequency of aberrant BCL10 expression than gastric/pulmonary MALT lymphomas that have been reported in the literature. Furthermore, aberrant BCL10 nuclear expression in ocular adnexal lymphoma does not seem to correlate with clinical outcome. Further studies that include a larger number of cases and longer follow-up period are needed to confirm our observation.     

Ocular adnexal lymphoma-comparison of MALT lymphoma with other histological types.

AIMS: To correlate histological features of ocular adnexal lymphoma using the revised European American lymphoma classification (REAL), with stage of disease at presentation, treatment modalities, and patient outcome. MALT lymphoma defines an extranodal marginal zone B cell lymphoma as outlined in the REAL classification. Comparison groups of patients included those with primary ocular adnexal MALT lymphoma versus primary ocular adnexal lymphomas of other types, MALT lymphoma versus non-MALT lymphomas (primary and secondary), and primary ocular adnexal lymphoma (MALT lymphomas and other types) versus secondary ocular adnexal lymphomas. METHODS: A retrospective review of the National Ophthalmic Pathology Laboratory records identified 20 cases of ocular adnexal lymphoma over a 10 year period which were reclassified using appropriate immunohistochemical stains. Patients' medical records were examined for data including stage of the disease at presentation, mode of treatment, and patient outcome. RESULTS: Among the 20 cases identified 14 had primary ocular adnexal lymphomas. 10 of the primary lymphomas had histological features of MALT lymphoma. One case was a primary ocular adnexal T cell lymphoma, one a follicular centre, follicular B cell lymphoma, and two were large cell B cell lymphomas. Six cases had systemic disease, four large B cell, one follicular centre, follicular B cell, and one mantle cell. A significantly higher proportion of patients with MALT lymphomas had early disease (p = 0.005), initially required local treatment (p = 0.005) and were alive at last follow up (p = 0.001) than those without. Two patients with MALT lymphoma had recurrence of lymphoma which responded to further treatment. CONCLUSIONS: Patients with primary ocular adnexal MALT lymphomas present with localised disease requiring local treatment and have a better outcome compared with patients with other types. As a small percentage of these tumours recur, patients should be followed up indefinitely.     

Lymphomas involving the eye and the ocular adnexa

PURPOSE OF REVIEW: To describe recent advances in the understanding of the pathogenesis of the most common malignant lymphomas that occur as primary and secondary tumors in ocular tissues. RECENT FINDINGS: Advances have been made in the understanding of the genetic alterations in mucosa-associated lymphoid tissue lymphomas, including various chromosomal translocations, such as the most recently described t(3;14)(p14.1;q32) involving the FOXP1 gene. Further, the development of ocular adnexal mucosa-associated lymphoid tissue lymphomas has been associated with Chlamydia psittaci in some geographic areas. Subdivision of diffuse large B-cell lymphoma into clinically prognostic groups had been achieved on the basis of gene expression profiles using complementary DNA microarrays. Tumor-infiltrating cells, such as macrophages, have been demonstrated to be of prognostic significance in follicular lymphoma. SUMMARY: Understanding of the ocular adnexal and intraocular lymphomas has advanced with progress in lymphoma classification systems, namely the World Health Organization lymphoma classification. This knowledge is being fine tuned with advances in technology, such as complementary DNA microarrays. The clinical significance of this scientific progress has yet to be determined.     

Lymphoproliferative lesions of the lacrimal gland: clinicopathological, immunohistochemical and molecular genetic analysis

BACKGROUND: Lacrimal gland lymphoproliferative disorders are usually classified as orbital adnexal tumours. Because the lacrimal gland is the only orbital structure with native lymphocytes, we examined cases with primary involvement of the gland. METHODS: The 14 cases were selected from a review of all cases in the surgical pathology files of the Ottawa Hospital between 1992 and 2003. The lesions were categorized according to the latest World Health Organization classification of tumours of lymphoid tissues. We conducted a clinical, histopathological, immunohistochemical, immunophenotypic and molecular genetic analysis of the cases. RESULTS: The 8 female and 6 male patients, aged 20 to 88 (mean 60) years, were followed for an average of 4 years (range 11 months to 13 years). All presented with supratemporal orbital swelling. The 5 primary lymphomas, of mucosa-associated lymphoid tissue (MALT), were confined to the lacrimal gland (stage IE); 1 tumour transformed to diffuse large B-cell lymphoma, necessitating chemotherapy, and the other 4 were treated with radiation. One of the 5 patients had previously had Sj?gren's syndrome. The 6 secondary lymphomas (4 follicular) presented either concurrently with systemic lymphoma or up to 12 years afterwards and were treated in a variety of ways; all the patients had an orbital relapse. At the last follow-up assessment, 6 of the patients with lymphoma had no evidence of disease, 3 were alive with disease, 2 had died (1 of lymphoma, the other with no evidence of disease), and the status of 1 patient was not known. Of the 3 patients with reactive proliferations, 2 had reactive lymphoid hyperplasia (associated with Sj?gren's syndrome in 1), and 1 had Rosai-Dorfman disease. All 9 lymphomas that underwent molecular genetic analysis were of B-cell lineage, and 8 had a monoclonal rearrangement in the immunoglobulin heavy-chain gene (IgH); the 9th lymphoma showed an oligoclonal rearrangement. One lymphoma showed the t(14;18) translocation, typical of follicular lymphoma; no lymphoma showed the t(11;18) translocation, commonly found in MALT lymphoma (but only 2 cases were studied). Molecular genetic analysis was performed in 2 of the cases of reactive lymphoid hyperplasia: monoclonal IgH rearrangement was detected in 1 case (the patient with Sj?gren's syndrome), oligoclonal rearrangement in the other. INTERPRETATION: Lacrimal gland lymphomas are B-cell tumours that develop in older adults. Primary tumours, a hIgH proportion of which have MALT characteristics, have a favourable prognosis. Molecular genetic studies may be useful when morphologic and immunophenotypic studies give equivocal results.     

Characterization of lymphoproliferative lesions of the conjunctiva: immunohistochemical and molecular genetic studies

BACKGROUND: Conjunctival lymphoproliferative lesions have not been selected for independent analysis with newer immunohistochemical and molecular genetic techniques to highlight their unique profile. METHODS: Retrospective case series examined biopsies from 16 consecutive patients with conjunctival lymphoproliferative lesions. The histopathologic, immunohistochemical, and molecular genetic features were characterized, as well as the frequency of tumour type, prognostic implications, clinical features, and treatments offered. RESULTS: The diagnosis was lymphoma in 12 cases, atypical lymphoid hyperplasia (ALH) in 1 case, and reactive lymphoid hyperplasia (RLH) in 3 cases. The primary lymphomas consisted of 4 mucosa-associated lymphoid tissue lymphomas (MALTL), 1 follicular lymphoma (FL), 2 diffuse large B-cell lymphomas (DLBCLs), 1 lymphoplasmacytic lymphoma, and 1 T-cell lymphoma. Primary lymphomas were treated with radiation (n = 7), surgery (n = 1), and topical chemotherapy (n = 1). Complete remission was achieved in 8 of 9 primary lymphomas. Two cases of recurrence to the other conjunctiva were treated with radiation and both remained disease free. Secondary lymphomas included 2 DLBCL and 1 MALTL. Complete remission was seen in 2 patients after radiation plus chemotherapy, while the patient treated with chemotherapy alone was lost to follow-up. The 1 case of ALH presented bilaterally and achieved complete remission after topical chemotherapy treatments. The 3 RLH cases were surgically managed and 2 of the 3 recurred and were subsequently excised. Eleven lymphomas were of B-cell lineage by immunophenotyping. Molecular genetic studies of immunoglobulin heavy chain (IgH) gene rearrangement by polymerase chain reaction (PCR) showed clonal bands in 6 of 12 lymphomas, 1 of 3 RLH (polyclonal by immunophenotyping) and 1 ALH. BCL2-IgH [t(14;18)] rearrangement was seen in 8 of 12 cases (1 FL, 3 DLBCLs, 4 MALTLs) by real-time quantitative PCR. INTERPRETATION: Conjunctival lymphomas are predominantly B-cell type with a high prevalence of MALTL. An unexpected finding was the BCL2-IgH rearrangement seen in 4 of 5 MALTL cases in our series. The significance of this remains unclear.     

Resolution of siderotic glaucoma correlated with decreased pigmentation in the anterior chamber angle after removal of a retained ferrous foreign body

AIM: To report CT and MR imaging findings of ocular adnexal mucosa-associated lymphoid tissue lymphoma associated with IgG4-related disease (IgG4-MALT lymphoma), a rare but clinically important complication of ocular adnexal IgG4-related disease. METHODS: We retrospectively reviewed all cases of histologically confirmed ocular adnexal IgG4-related disease at three tertiary and one secondary referral centers, between February 2003 and December 2016. Seven cases of histopathologically diagnosed IgG4-MALT lymphoma were identified. CT and MR images were analyzed by consensus of two experienced head and neck radiologists. RESULTS: Lacrimal glands were the main site of involvement in all seven patients. The lesions typically showed well-demarcated margins, iso- to hyperattenuation on precontrast CT, T2 hypo- to isointensity, T1 isointensity, and homogenous internal architecture with homogenous enhancement pattern. Lesions were mostly hyperdense and isointense to normal extraocular muscles on postcontrast CT and MR images, respectively. CONCLUSION: Unlike in typical ocular adnexal IgG4-related disease, T2 isointensity and hyperattenuation on precontrast CT images were noted in some IgG4-MALT lymphoma cases. Although the findings may be nonspecific, the possibility of accompanying MALT lymphoma may need to be considered, when ocular adnexal lesions in patients clinically suspected of having IgG4-related disease are refractory to glucocorticoids and show T2 isointensity and hyperattenuation on precontrast CT for the optimal management of the patients. However, this is a case series of a very rare complication of ocular adnexal IgG4-related disease, and thus caution is warranted to generalize the conclusion.     

Rearrangements of immunoglobulin gene and oncogenes in ocular adnexal pseudolymphoma.

The organization of immunoglobulin heavy chain (IgH), light chain (kappa and lambda) and T cell receptor (TCR) beta chain gene loci in 10 patients with ocular adnexal pseudolymphoma was investigated. Eight of them showed IgH gene rearrangement in at least one of the 3 restriction enzymes-digested DNAs extracted from ocular adnexal neoplasms. In contrast, none of them exhibited clonal TCR beta chain gene rearrangement. The configuration of bcl-1, bcl-2 and c-myc oncogenes was also studied by Southern blot technique. Two patients had a rearranged joining region, IgH-containing fragment that comigrated with the rearranged bcl-1 fragment. C-myc gene rearrangement was found in only one patient who also had bcl-1 gene rearrangement. In ocular adnexal pseudolymphoma, none demonstrated bcl-2 gene rearrangement; however, in bone marrow cells, one patient with systemic lymphadenopathy exhibited both IgH and bcl-2 gene rearrangements. Three genotypic subsets of these ocular adnexal pseudolymphoma can be identified by the configuration of IgH gene and related oncogenes: with germline configuration of IgH gene and bcl-1, bcl-2 and c-myc oncogenes; with rearrangement of IgH gene but germline configuration of these oncogenes; and with recombination between rearranged IgH and bcl-1 genes. These results suggest in ocular adnexal pseudolymphoma a spectrum of clonal change evolving from polyclonal to monoclonal B-population, and further to monoclonal B-population with rearranged bcl-1, c-myc and/or bcl-2 oncogenes.     

The tale and molecular trail of a disseminated ocular adnexal malt lymphoma.

PURPOSE: To report a case of a MALT lymphoma of the eyelid, which recurred in several sites over a time period of 14 years, and where the identical B-cell clone could be demonstrated in most samples using polymerase chain reaction (PCR) and GeneScan analysis. METHODS: Clinical, histologic, immunohistochemical, PCR and GeneScan analysis findings are presented. RESULTS: A 58-year-old woman presented with a swelling of the left lower lid. Excisional biopsy of the tumour revealed a low-grade malignant B-cell Non-Hodgkin lymphoma (NHL) of MALT type. Despite localized radiochemotherapy, the patient developed recurrences occurring in the pharynx, in the right orbit, in the skin of the right foot, and in the bone marrow 1, 7, 11 and 14 years, respectively, after establishment of the first diagnosis. PCR for a rearrangement of the immunoglobulin heavy chains (IgH) and GeneScan analysis of the samples produced amplificates identical in size at most sites, indicating derivation from the same B-cell clone. CONCLUSIONS: It is generally assumed that ocular adnexal MALT lymphoma is associated with an indolent clinical course. Using IgH-PCR and GeneScan analysis, we demonstrate that the current case illustrates that these lymphomas do indeed require regular control examinations following treatment, as they often recur and disseminate in some patients in an unpredictable manner.