molecular pathology of intraductal papillary mucinous neoplasms of the pancreas

Since the first description of intraductal papillary mucinous neoplasms(IPMNs)of the pancreas in the eighties,their identification has dramatically increased in the last decades,hand to hand with the improvements in diagnostic imaging and sampling techniques for the study of pancreatic diseases.However,the heterogeneity of IPMNs and their malignant potential make difficult the management of these lesions.The objective of this review is to identify the molecular characteristics of IPMNs in order to recognize potential markers for the discrimination of more aggressive IPMNs requiring surgical resection from benign IPMNs that could be observed.We briefly summarize recent research findings on the genetics and epigenetics of intraductal papillary mucinous neoplasms,identifying some genes,molecular mechanisms and cellular signaling pathways correlated to the pathogenesis of IPMNs and their progression to malignancy.The knowledge of molecular biology of IPMNs has impressively developed over the last few years.A great amount of genes functioning as oncogenes or tumor suppressor genes have been identified,in pancreatic juice or in blood or in the samples from the pancreatic resections,but further researches are required to use these informations for clinical intent,in order to better define the natural history of these diseases and to improve their management.

European vs 2015-World Health Organization clinical molecular and pathological classification of myeloproliferative neoplasms

The BCR/ABL fusion gene or the Ph^1-chromosome in the t(9;22)(q34;q11)exerts a high tyrokinase acticity,which is the cause of chronic myeloid leukemia(CML).The1990 Hannover Bone Marrow Classification separated CML from the myeloproliferative disorders essential thrombocythemia(ET),polycythemia vera(PV)and chronic megakaryocytic granulocytic myeloproliferation(CMGM).The 2006-2008 European Clinical Molecular and Pathological(ECMP)criteria discovered 3variants of thrombocythemia:ET with features of PV(prodromal PV),"true"ET and ET associated with CMGM.The 2008 World Health Organization(WHO)-ECMP and 2014 WHO-CMP classifications defined three phenotypes of JAK2^(V617F)mutated ET:normocellular ET(WHO-ET),hypercelluar ET due to increased erythropoiesis(prodromal PV)and ET with hypercellular megakaryocytic-granulocytic myeloproliferation.The JAK2^(V617F)mutation load in heterozygous WHO-ET is low and associated with normal life expectance.The hetero/homozygous JAK2^(V617F)mutation load in PV and myelofibrosis is related to myeloproliferative neoplasm(MPN)disease burden in terms of symptomaticsplenomegaly,constitutional symptoms,bone marrow hypercellularity and myelofibrosis.JAK2 exon 12mutated MPN presents as idiopathic eryhrocythemia and early stage PV.According to 2014 WHO-CMP criteria JAK2 wild type MPL^(515)mutated ET is the second distinct thrombocythemia featured by clustered giant megakaryocytes with hyperlobulated stag-horn-like nuclei,in a normocellular bone marrow consistent with the diagnosis of"true"ET.JAK2/MPL wild type,calreticulin mutated hypercellular ET appears to be the third distinct thrombocythemia characterized by clustered larged immature dysmorphic megakaryocytes and bulky(bulbous)hyperchromatic nuclei consistent with CMGM or primary megakaryocytic granulocytic myeloproliferation.

PVSG and WHO vs European Clinical,Molecular and Pathological Criteria for prefibrotic myeloproliferative neoplasms

The Polycythemia Vera Study Group(PVSG),World Health Organization(WHO) and European Clinical,Molecular and Pathological(ECMP) classifications agree upon the diagnostic criteria for polycythemia vera(PV) and advanced primary myelofibrosis(MF). Essential thrombocythemia(ET) according to PVSG and 2007/2008 WHO criteria comprises three variants of JAK2V617 F mutated ET when the ECMP criteria are applied. These include normocellular ET,hypercellular ET with features of early PV(prodromal PV),and hypercellular ET due to megakaryocytic,granulocytic myeloprolifera-tion(ET.MGM). Evolution of prodromal PV into overt PV is common. Development of MF is rare in normocellular ET(WHO-ET) but rather common in hypercellular ET.MGM. The JAK2V617 F mutation burden in heterozygous mutated normocellular ET and in heterozygous/homozygous or homozygous mutated PV and ET.MGM is of major prognostic significance. JAK2/MPL wild type ET associated with prefibrotic primary megakaryocytic and granulocytic myeloproliferation(PMGM) is characterized by densely clustered immature dysmorphic megakaryocytes with bulky(bulbous) hyperchromatic nuclei,which are never seen in JAK2V617 F mutated ET,and PV and also not in MPL515 mutated normocellular ET(WHO-ET). JAK2V617 mutation burden,spleen size,LDH,circulating CD34+ cells,and pre-treatment bone marrow histopathology are mandatory to stage the myeloproliferative neoplasms ET,PV,PMGM for proper prognosis assessment and therapeutic implications. MF itself is not a disease because reticulin fibrosis and reticulin/collagen fibrosis are secondary responses of activated polyclonal fibroblasts to cytokines released from the clonal myeloproliferative granulocytic and megakaryocytic progenitor cells in ET.MGM,PV and PMGM.

Blastic plasmacytoid dendritic cell neoplasm in Jinhua,China:Two case reports

BACKGROUND Blastic plasmacytoid dendritic cell neoplasm(BPDCN)is a rare and clinically aggressive hematologic malignancy originating from the precursors of plasmacytoid dendritic cells.BPDCN often involves the skin,lymph nodes,and bone marrow,with rapid clinical progression and a poor prognosis.The BPDCN diagnosis is mainly based on the immunophenotype.CASE SUMMARY In this paper,we retrospectively analyzed 2 cases of BPDCN.Both patients were elderly males.The lesions manifested as skin masses.Morphological manifestations included diffuse and dense tumor cell infiltration of the dermis and subcutaneous tissues.Immunohistochemistry staining showed that cluster of differentiation CD4,CD56,CD43,and CD123 were positive.CONCLUSION In this paper,we retrospectively analyzed 2 cases of BPDCN.Both patients were elderly males.The lesions manifested as skin masses.Morphological manifestations included diffuse and dense tumor cell infiltration of the dermis and subcutaneous tissues.Immunohistochemistry staining showed that cluster of differentiation CD4,CD56,CD43,and CD123 were positive.

Pathological features and diagnosis of intraductal papillary mucinous neoplasm of the pancreas

Intraductal papillary mucinous neoplasm(IPMN) of the pancreas is a noninvasive epithelial neoplasm of mucinproducing cells arising in the main duct(MD) and/or branch ducts(BD) of the pancreas.Involved ducts are dilated and filled with neoplastic papillae and mucus in variable intensity.IPMN lacks ovarian-type stroma,unlike mucinous cystic neoplasm,and is defined as a grossly visible entity(≥ 5 mm),unlike pancreatic intraepithelial neoplasm.With the use of high-resolution imaging techniques,very small IPMNs are increasingly being identified.Most IPMNs are solitary and located in the pancreatic head,although 20%-40% are multifocal.Macroscopic classification in MD type,BD type and mixed or combined type reflects biological differences with important prognostic and preoperative clinical management implications.Based on cytoarchitectural atypia,IPMN is classified into low-grade,intermediategrade and high-grade dysplasia.Based on histological features and mucin(MUC) immunophenotype,IPMNs are classified into gastric,intestinal,pancreatobiliary and oncocytic types.These different phenotypes can be observed together,with the IPMN classified according to the predominant type.Two pathways have been suggested:gastric phenotype corresponds to less aggressive uncommitted cells(MUC1-,MUC2-,MUC5 AC +,MUC6 +) with the capacity to evolve to intestinal phenotype(intestinal pathway)(MUC1-,MUC2 +,MUC5 AC +,MUC6- or weak +) or pancreatobiliary /oncocytic phenotypes(pyloropancreatic pathway)(MUC1 +,MUC 2-,MUC5 AC +,MUC 6 +) becoming more aggressive.Prognosis of IPMN is excellent but critically worsens when invasive carcinoma arises(about 40% of IPMNs),except in some cases of minimal invasion.The clinical challenge is to establish which IPMNs should be removed because of their higher risk of developing invasive cancer.Once resected,they must be extensively sampled or,much better,submitted in its entirety for microscopic study to completely rule out associated invasive carcinoma.

Intraductal papillary-mucinous neoplasia of the pancreas:Histopathology and molecular biology

Intraductal papillary-mucinous neoplasm(IPMN) of the pancreas is a clinically and morphologically distinctive precursor lesion of pancreatic cancer,characterized by gradual progression through a sequence of neoplastic changes.Based on the nature of the constituting neoplastic epithelium,degree of dysplasia and location within the pancreatic duct system,IPMNs are divided in several types which differ in their biological properties and clinical outcome.Molecular analysis and recent animal studies suggest that IPMNs develop in the context of a field-defect and reveal their possible relationship with other neoplastic precursor lesions of pancreatic cancer.

Blastic plasmacytoid dendritic cell neoplasm with skin and bone marrow involvement: Report of three cases

BACKGROUND Blastic plasmacytoid dendritic cell neoplasm(BPDCN)is a rare and highly aggressive hematopoietic malignancy.BPDCN is difficult to diagnose because of the overlap in morphologic and immunophenotypic features with various cutaneous lymphatic hematopoietic tumors.CASE SUMMARY We report on three BPDCN cases,all characterized by skin nodules and examined by histology,immunohistochemical detection,in situ hybridization for Epstein-Barr virus,and follow-up.We also review the relevant literature.All patients were positive for CD56 and negative for Epstein-Barr encoded small RNA.Two patients had bone marrow involvement.Chemotherapy is the main treatment for BPDCN,but case 1 showed bone marrow suppression and case 2 developed recurrence after chemotherapy.Case 1 survived for 7 mo,case 2 for 17 mo,and case 3 for 9 mo.CONCLUSION An accurate pathological diagnosis is a precondition for treatment,and the diagnosis of BPDCN should be based on a combination of clinical symptoms,pathological characteristics,immunophenotype,and other auxiliary examinations.It is necessary to clarify the clinicopathological features and biological behavior of BPDCN to improve its understanding by both clinicians and pathologists.Case 2 survived significantly longer than the other two cases,suggesting that the treatment received by case 2 was more effective.

The accuracy of magnetic resonance imaging and ultrasound in evaluating the size of early-stage breast neoplasms

Objective Breast cancer is the most frequently diagnosed cancer in women. Accurate evaluation of the size and extent of the tumor is crucial in selecting a suitable surgical method for patients with breast cancer. Both overestimation and underestimation have important adverse effects on patient care. This study aimed to evaluate the accuracy of breast magnetic resonance imaging(MRI) and ultrasound(US) examination for measuring the size and extent of early-stage breast neoplasms.Methods The longest diameter of breast tumors in patients with T_(1–2)N_(0–1)M_0 invasive breast cancer preparing for breast-conserving surgery(BCS) was measured preoperatively by using both MRI and US and their accuracy was compared with that of postoperative pathologic examination. If the diameter difference was within 2 mm, it was considered to be consistent with pathologic examination.Results A total of 36 patients were imaged using both MRI and US. The mean longest diameter of the tumors on MRI, US, and postoperative pathologic examination was 20.86 mm ± 4.09 mm(range: 11–27 mm), 16.14 mm ± 4.91 mm(range: 6–26 mm), and 18.36 mm ± 3.88 mm(range: 9–24 mm). US examination underestimated the size of the tumor compared to that determined using pathologic examination(t = 3.49, P < 0.01), while MRI overestimated it(t =-6.35, P < 0.01). The linear correlation coefficients between the image measurements and pathologic tumor size were r = 0.826(P < 0.01) for MRI and r = 0.645(P < 0.01) for US. The rate of consistency of MRI and US compared to that with pathologic examination was 88.89% and 80.65%, respectively, and there was no statistically significant difference between them(χ~2 = 0.80, P > 0.05).Conclusion MRI and US are both effective methods to assess the size of breast tumors, and they maintain good consistency with pathologic examination. MRI has a better correlation with pathology. However, we should be careful about the risk of inaccurate size estimation.

Intraductal papillary mucinous neoplasm originating from a jejunal heterotopic pancreas:A case report

BACKGROUND Intraductal papillary mucinous neoplasm(IPMN)is a rare pancreatic tumor and has the potential to become malignant.Surgery is the most effective treatment at present,but there is no consensus on the site of resection.Heterotopic pancreas occurs in the gastrointestinal tract,especially the stomach and duodenum but is asymptomatic and rare.We report a case of ectopic pancreas with IPMN located in the jejunum.CASE SUMMARY A 56-year-old male patient suffered from severe pain,nausea and vomiting due to a traffic accident and sought emergency treatment at our hospital.Contrast-enhanced computed tomography of the whole abdomen suggested splenic congestion,which was considered to be splenic rupture.Emergency laparotomy was performed,and the ruptured spleen was removed during the operation.Unexpectedly,a cauliflower-like mass of about 2.5 cm×2.5 cm in size was incidentally found about 80 cm from the ligament of Treitz during the operation.A partial small bowel resection was performed,and postoperative pathology confirmed the small bowel mass as heterotopic pancreas with low-grade IPMN.CONCLUSION Ectopic pancreas occurs in the jejunum and is pathologically confirmed as IPMN after surgical resection.

The Physical and Clinical Aspects of Radiation Therapy in Skin Cancer and Subcutaneous Tissue Neoplasm

Cancers, malignant melanoma and sarcomas of the skin represent the most common group of malignancies in humans. The main treatment method of almost all skin cancers and subcutaneous tissue tumours is surgery, which consists of complete removal of a neoplastic lesion, with an adequate margin of healthy tissue. Radiotherapy plays an adjuvant role in this process, meaning complementing of the surgical procedure. This study compared four methods of irradiation treatment of cancer located in the skin or in subcutaneous tissues: contact brachytherapy, conventional orthovoltage therapy, electron beam conformal teleradiotherapy and IMRT dynamically shaped photonic beams conformal teleradiotherapy. In order to compare the methods and techniques of surface radiotherapy, following specific objectives were formulated. At the beginning in order to compare the scopes of the absorbed doses at different tissue depths, an analysis of parameters describing particular beams or radiation source has been performed—the curves for the absorbed-dose depth drop-offs. Doses distribution in tissue-like phantoms stimulating homogeneous cuboidal tissue block has been determined. A quality comparison of dose distribution in 2D and 3D treatment planning system for contact brachytherapy application has been made. The dose distribution for electron beam in the system has been determined. Conformal plannings for electron beam treatment, contact brachytherapy applicator treatment and 4 photon beams treatment optimized in IMRT technology have been performed. Dose distribution has been performed for the irradiated female patient within the well chest—the target included the recurrence area in the post-operative scar. The radiation therapy with X-rays has actually been completely eliminated from skin cancer and subcutaneous tissue radiotherapy by the electrons generated in linear accelerators, contact brachytherapy HDR and by high-energy photons used in conformal techniques, ex. IMRT. It is because the residual dose beyond the target is the highest for single X-ray beam. Although in brachytherapy HDR a rapid dose drop-off is observed, 5 cm from its normalization level for the target the residual radiation remains at the level of several percent. So, both X-rays beam radiation and brachytherapy in skin cancer treatment is connected with the administration of the dose with a high gradient in the health tissues. The dose distribution for photon conformal techniques IMRT or for electron radiation looks different. There with the dose normalization at the level of 90% or 85% we deal with the dose layer, the division does not exceed 15% of heterogeneity.

中老年肠道炎性肌纤维母细胞瘤临床病理及预后特点

目的探讨中老年肠道炎性肌纤维母细胞瘤(inflammatory myofibroblastic tumours,IMT)的临床病理及预后特点。方法回顾性分析5例中老年肠道IMT的临床、病理形态、免疫表型及随访结果。结果4例IMT发生在右半结肠,1例在回肠。3/5患者有肠道损伤史,首发消化道症状且白细胞增高。瘤组织由梭形肌纤维母细胞和纤维母细胞构成,席纹状排列,浸润性生长,伴较多淋巴细胞、浆细胞浸润,可见胶原化及黏液水肿。其中一例异型性明显,核大且畸形。免疫表型:瘤细胞vimentin(5例)、SMA(5例)、desmin(3例)、ALK(3例)、CK(2例)阳性,Caldesmon、CD34、β-catenin、MC、CD117、DOG1、S-100、BCL-2、CD99、CD68均阴性,Ki-67增殖指数1.28%~10.01%。5例均完整切除肿瘤,随访53~137.5个月,其中1例83岁患者,于术后27个月影像学考虑肿瘤复发;另一例术后无瘤生存122个月,因其他原因去世;其余均无瘤生存,基本状况良好。结论(1)本组中老年肠道IMT多见于右半结肠,多有肠道损伤史,多首发消化道症状,白细胞多升高;(2)Vimentin和SMA同时阳性,多伴ALK阳性;(3)4/5的患者手术切除治疗效果好,1/5的患者术后2~3年可复发;高龄且ALK阳性、Ki67达10%、异型性明显很有可能是中老年肠道IMT复发的重要危险因素,其中ALK阳性者复发的风险或许为1/3。

术前Sonazoid超声造影评估肝细胞癌病理分化程度的价值

目的分析肝细胞癌(HCC)Sonazoid超声造影(CEUS)的特点与病理分化程度的相关性。方法纳入行CEUS检查并经病理确诊为HCC的患者64例,共64个病灶,根据病理分化程度将其分为高、中、低分化组,分别为6、48和10例。比较不同病理分化程度HCC的CEUS动脉期增强形态、增强水平和增强模式。结果动脉期增强形态分为均匀增强和不均匀增强2种,低分化组所有病灶及58.3%中分化组病灶呈不均匀高增强;高分化组病灶可呈均匀高增强、均匀等增强和不均匀高增强3种表现。动脉期,所有中、低分组病灶和66.7%高分化组病灶呈高增强,不同分化程度HCC的增强水平差异有统计学意义(P<0.01);门脉期,高、中、低分化组分别有16.7%、25.0%和70.0%的病灶消退成低增强,不同分化程度HCC的增强水平差异有统计学意义(P<0.05);延迟期,75%中分化组病灶和所有低分化组病灶呈低增强,66.7%高分化组病灶呈等增强,不同分化程度HCC的增强水平差异有统计学意义(P<0.01);Kupffer期,所有低分化组和95.8%中分化组病灶呈低增强,高分化组中仍有50%的病灶呈等增强,不同分化程度HCC的增强水平差异有统计学意义(P<0.01)。高分化组病灶表现为多种CEUS模式,中分化组病灶以“快进快退”、“快进慢退”为主,90.0%低分化组病灶呈“快进快退”模式,不同分化程度HCC的CEUS模式差异有统计学意义(P<0.01)。结论Sonazoid-CEUS在评估HCC病理分化程度方面具有一定价值。

艾滋病合并猴痘临床病理分析

本文分析了近期确诊的3例艾滋病合并猴痘患者临床表现和皮损组织学特征。3例患者均为青年男性,生殖器周围皮疹为首发表现,后扩散至全身,2例伴发热、1例有腹股沟淋巴结肿大,外周血HIV抗体阳性。咽拭子、皮疹拭子及肛拭子等标本猴痘病毒PCR检测均阳性;活检皮肤病理组织学表现一致:局部表皮全层及真皮浅层碎屑状坏死,坏死周围表皮细胞水肿及气球样变、多量中性粒细胞浸润伴核尘,表皮细胞胞质见嗜酸性小体,真皮层多量淋巴细胞、中性及嗜酸性粒细胞浸润。

卵巢-附件报告和数据系统超声2022版(O-RADS US v2022)及其联合恶性风险指数4鉴别附件良、恶性肿瘤

目的观察卵巢-附件报告和数据系统超声2022版(O-RADS US v2022)及其联合恶性风险指数4(RMI4)鉴别附件良、恶性肿瘤的价值。方法回顾性分析126例手术病理诊断为附件肿瘤患者,根据O-RADS US v2022将1~3类归为良性病变、4~5类归为恶性病变,以450为RMI4分类的临界值,基于二者进行联合分类。以病理结果为金标准,绘制受试者工作特征(ROC)曲线,计算曲线下面积(AUC),评估单一O-RADS US v2022、RMI4及其联合鉴别附件良、恶性肿瘤的效能。结果126例附件肿瘤中,良性94例、恶性32例。O-RADS US v2022鉴别附件良、恶性肿瘤的敏感度、特异度、准确率及AUC分别为78.13%、80.85%和80.16%、0.795,RMI4分别为71.88%、84.04%和80.95%、0.780;二者联合的特异度及准确率(93.62%、92.06%)均高于单一O-RADS US v2022(χ^(2)=7.322、5.967,P=0.007、0.015)或RMI4(χ^(2)=4.625、5.331,P=0.032、0.021),而敏感度及AUC(87.50%、0.906)差异均无统计学意义(P均>0.05)。结论O-RADS US v2022能有效鉴别附件良、恶性肿瘤,联合RMI4可提高鉴别特异度及准确率。

原发性气管支气管腺样囊性癌的研究进展

原发性气管支气管腺样囊性癌(primary tracheobronchial adenoid cystic carcinoma, TACC)是一种罕见的非小细胞肺癌,仅占所有肺恶性肿瘤的0.1%~0.2%。按照2021版世界卫生组织(world health organization, WHO)肺肿瘤组织学分类,该肿瘤属于唾液腺型肿瘤。该疾病临床表现及影像学无特异性,易被延误诊治,确诊需病理,分期尚无公认标准,治疗首选手术,术后或不能手术者可行放疗,单纯全身治疗(化疗、靶向、免疫)效果差。该文对TACC从命名和组织学分类、临床特征、影像学、病理、分期、治疗和预后共七个方面进行了综述。

外阴良性肿瘤的病理特征及临床分析

目的 探讨外阴良性肿瘤的临床特点、病理特征及治疗预后,总结相关的临床诊治经验。方法 收集2018年1月至2022年12月因外阴肿物收入首都医科大学附属北京妇产医院妇科微创中心住院治疗的24例经病理检查证实为外阴良性肿瘤患者的临床及病理资料进行回顾性分析。探讨发病年龄、临床症状体征、肿物性状特点、病理类型、治疗及转归情况。结果 24例患者中仅2例(8.3%)为多发病灶,其余患者均为单发。发病年龄为14~78岁,中位发病年龄为38岁,围绝经期患者2例(8.3%)。所有患者表现为自触和/或在妇科检查时发现外阴肿物,有2例伴异味及破溃;病程为2周~70年;3例表现为外阴囊性肿物,21例表现为外阴实性肿物(包括8例外阴皮赘),包块大小为0.5~8 cm。术后病理诊断为外阴软纤维瘤者8例,平滑肌瘤4例,外阴皮内痣、纤维瘤、乳头状汗腺腺瘤、血管肌纤维母细胞瘤各2例,多发鳞状细胞乳头状瘤、脂肪瘤、细胞性血管纤维瘤、孤立性纤维性肿瘤各1例。除1例外阴多发鳞状细胞乳头状瘤患者行单纯外阴切除术,其余患者均采用局部病灶切除术。术后随访3个月~5年,均未见复发。结论 外阴良性肿瘤多为单发,实性肿物多见,常无明显自觉症状,病理类型呈多样性,预后较好,建议尽早手术切除,术后加强随访。

前列腺癌多参数MRI诊断及误诊原因分析

目的 探讨前列腺癌临床特点、多参数MRI表现,总结其误诊原因及防范措施。方法 对2020年4月—2022年2月收治的多参数MRI检查后误诊为膀胱癌、前列腺增生的前列腺癌10例的临床资料进行回顾性分析。结果 10例年龄54~73岁。6例因尿急、尿频、尿潴留、排尿困难就诊,直肠指诊示前列腺肥大,查血清前列腺特异性抗原升高,多参数MRI及前列腺穿刺活组织病理检查未发现前列腺肿瘤证据,误诊为前列腺增生,后经术后病理检查确诊T1期前列腺癌。4例以尿痛、血尿、排尿困难就诊,经多参数MRI检查误诊为膀胱癌,查血清前列腺特异性抗原升高,直肠指诊发现前列腺肥大,再次行多参数MRI和前列腺组织穿刺活组织病理检查证实为前列腺癌累及膀胱。误诊时间4~10 d。误诊为前列腺增生6例接受根治性手术,误诊为膀胱癌4例予内分泌和放射治疗,随访至今病情控制尚可。结论 临床接诊以尿急、尿频、尿潴留、排尿困难等症状就诊的中老年男性患者时应考虑到前列腺癌可能。加强对前列腺癌影像学特征认识,行多参数MRI检查时重点观察前列腺结构、包膜完整与否、膀胱壁连续性等重要特征,必要时可行前列腺穿刺活组织病理检查,以提高该病术前诊断正确率。

结直肠癌组织中错配修复蛋白的表达及其与临床病理特征的关系

目的分析结直肠癌组织中错配修复蛋白(MMR)的表达情况及与临床病理特征的关系,并探讨MMR检测在临床工作中的价值。方法收集2021年12月至2023年7月山东省济宁市第一人民医院胃肠外科经外科手术治疗的212例结肠癌及直肠癌患者的相关临床病历资料,分析MMR蛋白Mut L蛋白同系物1(MLH1)、Mut S蛋白同系物2(MSH2)、Mut S蛋白同系物6(MSH6)、减数分裂后分离蛋白2(PMS2)的表达情况并将错配蛋白缺失(dMMR)与其他临床病理数据进行分析。结果212例患者中存在MLH1缺失5例(2.4%),PMS2缺失10例(4.7%),MSH2与MSH6分别缺失2例(0.9%),MLH1、PMS2共同缺失5例(2.4%),MSH2、MSH6共同缺失2例(0.9%)。212例结直肠癌组织中dMMR 12例占5.7%;dMMR与结直肠癌患者的性别、年龄、分化程度、TNM分期、T分期、N分期、有无脉管癌栓及有无神经侵犯均无关;与肿瘤部位、组织学类型相关(P<0.05)。结论MMR表达缺失与肿瘤部位及组织学类型相关,通过对MMR的检测可对术后治疗方案提供指导并对判断癌症患者的预后有重要意义。

骨髓增殖性肿瘤临床病理学特征分析

目的探讨骨髓增殖性肿瘤的骨髓病理组织形态学特点,探讨其临床诊断价值。方法选取2020年1月至2023年3月本院收治的MPN患者138例,对骨髓活检组织作组织学观察及免疫组化行表型分析,同时进行基因学检测。结果138例确诊MPN患者中,BCR ABL阳性CML 39例,BCR ABL阴性MPNs中PV 13例、ET 72例和PMF 11例。经典型MPN骨髓活检组织各具有诊断性形态学特点。CML粒红系比例明显增大伴粒系核右移,巨核细胞均为胞体小、分叶少的巨核细胞,PV粒红系比例明显减小,巨核细胞形态多样,混杂分布;ET粒红系比例大致正常,巨核细胞则为胞体大、分叶多的巨核细胞;PMF巨核细胞形态怪异,核染色质深染浓集,多伴网状纤维显著性增生。结论骨髓活检组织形态在MPN精准诊断和分型中具有重要临床意义。

应用深度学习进行基于前列腺癌转移报告和数据系统指南的晚期前列腺癌盆腔外脏器及转移灶分割

目的探讨应用深度学习进行基于前列腺癌转移报告和数据系统指南的晚期前列腺癌患者盆腔外脏器及转移灶分割的可行性。资料与方法回顾性收集北京大学第一医院2017年1月—2022年1月不同扫描部位(头部、颈部、胸部、腹部)的经临床综合诊断存在转移灶的数据集(头部、颈部、胸部及腹部转移患者分别为68、91、57、263例),用于进行扫描范围的分类模型及不同区域脏器和转移灶的分割模型训练。另收集90例经病理证实为前列腺癌且行全身MRI患者用于模型的外部验证。以手工标注的区域(脑实质、颈椎、肺实质、纵隔、胸椎、肝、腰椎)及转移灶标签为“金标准”,评估模型的分割性能。评价指标包括Dice相似系数(DSC)、体积相似度(VS)。结果在外部验证数据集中,分类模型在头部、颈部、胸部和腹部的符合率分别为100%(90/90)、98.89%(89/90)、96.67%(87/90)和94.44%(85/90);分割模型对不同区域脏器分割的DSC、VS范围分别为(0.86±0.10)~(0.99±0.01)、(0.89±0.10)~(0.99±0.01);分割模型对不同转移灶分割的DSC、VS范围分别为(0.65±0.07)~(0.72±0.13)、(0.74±0.04)~(0.82±0.13)。结论基于深度学习的3D U-Net模型可实现晚期前列腺癌患者的盆腔外区域及转移灶分割。