Core 1 β 1,3-galactosyltransferase 1 (C1GALT1) acts as an important glycosyltransferase in the occurrence and development of tumor glycosylation. However, the regulatory mechanisms of C1GALT1 in thyroid cancer (TC) is still unclear. In this study, we discovered that the expression level of C1GALT1 was significantly increased in thyroid adenocarcinoma tissues and cell lines (p < 0.01). Meanwhile, gene silencing of C1GALT1 inhibited the proliferation (CCK-8 assay), migration (wound healing), and invasion (Transwell) of TC cells (p < 0.05). Further investigation indicated that miR-141-3p had a negative correlation with C1GALT1 and suppressed cancer carcinogenesis in TC cells. Moreover, we first found that glucose transporter 1 (GLUT1) was a downstream element of C1GALT1 and was positively correlated with C1GALT1 levels in TC. The GLUT1 could reverse the inhibitory effects of siRNA C1GALT1 on cell development (p < 0.05). These data suggest that the miR-141-3p/C1GALT1/GLUT1 axis plays an essential role during TC progression and may be a probable biomarker or therapeutic target for thyroid cancer patients.

Objective: To investigate the clinicopathological features, immunophenotype, molecular features and differential diagnosis of primary synovial sarcoma of the lung (PSSL). Methods: Twelve cases of PSSL were collected at Henan Provincial People's Hospital, during May 2010 and April 2021, and their clinicopathological parameters were summarized. SS18-SSX, H3K27Me3, and SOX2 were added to the original immunomarkers to evaluate their diagnostic value for PSSL. Results: The age of 12 patients when diagnosed ranged from 32 to 75 years (mean of 50 years). There were 7 males and 5 females, 2 left lung cases and 10 right lung cases. Of the 6 patients who underwent surgical resection, five cases were confined to lung tissue (T1), one case had mediastinal invasion (T3), two cases had regional lymph node metastasis (N1), and none had distal metastasis. Microscopically, 11 cases showed monophasic spindle cell type and one case showed biphasic type composed of mainly epithelial cells consisting of cuboidal to columnar cells with glandular and cribriform structures. It was difficult to make the diagnosis by using the biopsy specimens. Immunohistochemistry (IHC) showed CKpan expression in 8 of 12 cases; EMA expression in 11 of 12 case; TLE1 expression in 8 of 12 cases; S-100 protein expression in two of 12 cases; various expression of bcl-2 and vimentin in 12 cases, but no expression of SOX10 and CD34 in all the cases. The Ki-67 index was 15%-30%. The expression of SS18-SSX fusion antibody was diffusely and strongly positive in all 12 cases. SOX2 was partially or diffusely expressed in 8 of 12 cases, with strong expression in the epithelial component. H3K27Me3 was absent in 3 of 12 cases. SS18 gene translocation was confirmed by fluorescence in situ hybridization (FISH) test in all 12 samples. Six cases underwent surgery and postoperative chemotherapy, while the other six cases had chemotherapy alone. Ten patients were followed up after 9-114 months, with an average of 41 months and a median of 26 months. Five patients survived and five died of the disease within two years. Conclusions: PSSL is rare and has a broad morphological spectrum. IHC and molecular tests are needed for definitive diagnosis. Compared with current commonly used IHC markers, SS18-SSX fusion antibody has better sensitivity to PSSL, which could be used as an alternative for FISH, reverse transcription-polymerase chain reaction or next generation sequencing in the diagnosis of PSSL.

Background We investigated the impact of factors that influence TP53 mutations on the efficacy of EGFR-tyrosine kinase inhibitors and potential treatment strategies. Materials and Methods Tumor samples were collected to screen gene mutations by next-generation sequencing, as well as the patients' baseline characteristics. The overall response to treatment with TKIs was evaluated based on interval computed tomography scans at each follow-up time point. A Fisher's exact test and log-rank test were used to determine the statistical differences in this study. Results A total of 1134 clinical samples were collected from NSCLC patients, and TP53mut was identified in 644 cases and EGFRmut in 622 cases. A low frequency of TP53mut or more than 50% EGFR co-mutation rate were related to the prognosis of TKI-treated patients. In addition, TP53mut in the region outside of the DB domain had the strongest correlation with TKI resistance, whereas various types of mutations in the DB domain only had an impact on PFS. A grouping study of EGFR-TKI-based treatment revealed that EGFR-TKIs with chemotherapy were associated with more significant survival benefits for patients with prognostic TP53mut, whereas EGFR-TKI therapy was favorable for TP53wt patients. Furthermore, TP53mut could shorten the time to the relapse of postoperative patients, who will also likely respond well to EGFR-TKIs with chemotherapy. Conclusion Various characteristics of TP53mut affect the prognosis of TKI-treated patients to varying degrees. EGFR-TKIs with chemotherapy were benefit for patients' survival with prognostic TP53mut, which provides an important reference for treatment management of EGFRmut patients.

Objective: To investigate the clinicopathological features, immunophenotypic and molecular genetic characteristics and differential diagnosis of fibrous hamartoma of infancy (FHI). Methods: Thirty-three cases of surgically removed FHI were collected from the Department of Pathology, Henan Provincial People's Hospital from October 2011 to December 2020, the clinical and pathologic data with follow-up were collected and analyzed. Next-generation sequencing (NGS) and quantitative real time polymerase chain reaction (q-PCR) were used to study the molecular genetics. Results: The FHI cases occurred in 21 males and 12 females (mean age 16.7 months, range 6 months to 6 years). The sites included trunk (n=21), limb (n=11), and neck (n=1). All patients had painless solitary superficial soft tissue masses, the size was 1.5-9.0 cm (mean 3.8 cm). Microscopically, they were composed of mature adipose tissue, fibroblast/myofibroblast bundle and primitive mesenchymal cells in different proportions; giant cell fibroblastoma-like areas were seen in 14 cases. Immunohistochemistry showed variable expression of EGFR in the spindle cells and primitive mesenchymal components. In most cases, the spindle cells were positive for CD34 and SMA; giant cell fibroblastoma-like areas were strongly positive for CD34; and S-100 protein was expressed by adipocytes in all cases. Ki-67 labeling index ranged 1%-5%. There were recurrent somatic EGFR exon 20 insertion/duplication mutations in six cases tested by NGS, and there were three different mutation types: p.Asn771_His773dupAsnProHis, p.Pro772_His773insProProHis, and p.His773_Val774insThrHis. All the above 6 and another 15 tested cases showed EGFR exon 20 insertion/duplication mutations by q-PCR. Conclusions: FHI is a rare benign fibroblast/myofibroblast tumor. The characteristic histologic feature is organoid triphasic morphology, and the molecular feature is somatic mutation of EGFR exon 20 (insertion/duplication).

Objective: To investigate the clinicopathological features as well as BRAF V600E and MYD88 L265P mutation status of nodal marginal zone B cell lymphoma (NMZL). Methods: Thirty-two cases of NMZL were diagnosed from September 2009 to February 2021 at the Henan Provincial People's Hospital and Peking University School of Basic Medical Sciences. The clinicopathologic characteristics were obtained and analyzed. BRAF V600E and MYD88 L265P mutation status were identified using PCR and Sanger sequencing, respectively. Results: There were 20 males and 12 females patients with a median age of 69 years (ranging 36-82 years). The most prevalent clinical manifestation was multiple lymph nodes enlargement in head and neck (22/32, 68.8%), followed by inguinal (12/32, 37.5%), axillary (11/32, 34.4%), mediastinum (5/32, 15.6%) and retroperitoneal lymph nodes (4/32, 12.5%). Most of the patients were in Ann Arbor stage Ⅰ/Ⅱ (21 cases). The morphologic features included diffuse (24/32, 75.0%), nodular (5/32, 15.6%), interfollicular (2/32,6.3%) and perifollicular (1/32,3.1%) types. The tumor cells showed monocyte-like, centrocyte-like, small lymphocyte-like and plasma cell-like differentiation. Immunophenotyping revealed diffuse expression of CD20 in all tumor cells, whereas CD43 (11/32, 34.4%), bcl-2 (20/32, 62.5%), MNDA (13/32, 40.6%) and CD5 (2/32, 6.3%) were partially expressed. Ki-67 proliferation index varied from 10% to 40%. BRAF V600E mutation was found in two cases (2/32, 6.3%), but MYD88 L265P mutation was not detected. Eighteen patients survived and three died at the end of follow-up period which ranged 6 to 110 months. Conclusions: The morphologic features of NMZL varies across individuals, it should be differentiated from various B-cell lymphomas; however immunological biomarkers with high specificity for NMZL are still lacking. No MYD88 L265P mutation is found in NMZL. Some cases may harbor BRAF V600E mutation and yet the prevalence remains indeterminate; further researches are warranted.

Objective: To study the clinicopathological, immunophenotypic and molecular genetic characteristics of nodular fasciitis (NF) in unusual sites. Methods: A total of 50 cases of NF diagnosed between January 2015 and January 2021 were reviewed in the Department of Pathology, Henan Provincial People's Hospital, and the clinical and pathologic data were analyzed. Among them, 14 cases from unusual sites were included in this study. Immunohistochemical (IHC) staining was used to detect the expression of related proteins, and fluorescence in situ hybridization (FISH) was used to detect the breakage of the USP6 gene. Results: There were seven males and seven females in the 14 NF respectively. The lesions were located in the extremities, perineum, breast, wrist joints, the gap between lumbar vertebra 4/5, and in eight cases there was involvement of unusual tissues (six cases in skeletal muscle, one case in nerve root, and one case was intravascular). The tumor boundary was unclear with infiltrating growth. Spindle-shaped myofibroblasts were arranged in bundles or chaotically, with mild pleomorphic, small nucleoli and various mitotic figures. The tumor stroma showed collagenization to myxoid degeneration with erythrocyte extravasation and infiltration of inflammatory cells. IHC staining showed that the spindle cells expressed SMA focally or partially, and p16 diffusely and strongly. FISH showed that 12 of 14 cases had USP6 gene breakage, and two of them occurred in the intrathoracic skeletal muscle with the red signal amplification of USP6 gene. Conclusions: NF in unusual sites shows similar clinicopathological and genetic characteristics to classic NF, but the tumor mostly has infiltrating borders, non-specific and strong expression of p16, and USP6 red signal amplification. The pathological diagnosis of NF in rare sites should be highly vigilant.

目的 探讨涎腺透明细胞癌(CCC)的临床病理学特征、诊断与鉴别诊断要点及预后.方法 收集河南省人民医院病理科2012-03-2021-11月诊断的4例涎腺CCC,观察其组织学形态、免疫表型及分子遗传学特征,随访患者并复习相关文献.结果 4例患者诊断时年龄46～71岁,平均58岁,男女比例为1∶1.3例发生于上腭,1例发生于颊部.肿瘤大小1～6 cm,平均3.3 cm.4例患者均行肿瘤扩大切除术,术后随访3～98个月均存活,1例复发并伴区域淋巴结转移.肿瘤细胞胞质透明或嗜酸性,呈巢状、条索状、小梁状及片状排列,伴致密的玻璃样变间质.特殊染色及免疫表型:肿瘤细胞PAS染色阳性而D-PAS染色阴性;CK7、CK5/6、p63和p40均呈阳性表达,S-100、SMA、Calponin、SOX-10、DOG1、PAX8 和 CA-Ⅸ均呈阴性,Ki-67 增殖指数为 2％～10％.4 例 FISH 检测均存在EWSR1基因易位.结论 CCC是一种罕见的低级别涎腺癌,多发生于小涎腺,具有特征性的形态学表现及EWSR1基因易位,总体预后较好.

Objective: To investigate the clinicopathological characteristics and prognosis of mature T/NK cell lymphomas with aberrant CD20 or CD79α expression. Methods: A retrospective analysis of 641 cases of mature T/NK cell lymphoma diagnosed from January 2014 to December 2020 was performed, and 14 cases of CD20-positive and one case of CD79α-positive mature T/NK-cell lymphoma were identified. Histological examination, immunohistochemical characterization, in situ hybridization for Epstein-Barr virus encoded early RNA (EBER), and PCR testing for immunoglobulin and T cell receptor (TCR) gene rearrangements were performed. Clinicopathological characteristics of these lymphomas were analyzed. Results: There were 13 males and 2 females, with a median age of 56 years. There were 8 cases of peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), 3 cases of extranodal NK/T-cell lymphoma, nasal type (ENKTCL), 2 cases of monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) and 2 cases of angioimmunoblastic T-cell lymphoma (AITL). Twelve cases were stage Ⅲ or Ⅳ lymphomas. The prognosis was overall poor. The histology, immunophenotype and TCR gene rearrangement were not significantly different from the corresponding types of lymphoma. Ki-67 proliferation index was over 70% in all cases. The expression of CD20 or CD79α was weak and heterogeneous. All 15 case of Ig gene rearrangement were polyclonal. Conclusions: Mature T/NK cell lymphoma with abnormal expression of CD20 or CD79α is rare, commonly found in advanced stage, and associated with poor prognosis. The expression of CD20 or CD79α in these cases is weaker than the corresponding mature T/NK cell lymphomas, while its proliferation index is higher. Histomorphology, extensive immunoprofiling and molecular detection are required for accurate diagnosis.

Objective The aim of this study was to evaluate the predictive factors of central lymph node metastasis (CLNM) and BRAF V600E mutation in Chinese patients with papillary thyroid carcinoma (PTC). Methods A total of 943 PTC patients who underwent thyroidectomy from 2014 to 2016 at our hospital were enrolled. Those patients were divided into PTC > 10 mm and papillary thyroid microcarcinoma (PTMC) groups by tumor size. The BRAF V600E mutation was examined by quantitative real-time PCR. Univariate and multivariate analyses were used to examine risk factors associated with CLNM and the BRAF V600E mutation. Results The frequency of CLNM was 53% (505/943). Both univariate and multivariate analyses suggested that the risk factors for CLNM in PTC patients were male, younger age, and larger tumor size ( P < 0.05). Coexistent Hashimoto thyroiditis (HT) was an independent protective factor against CLNM when the tumor was > 10 mm ( P = 0.006). Stratified analysis revealed that male, age ≤ 30 years, and tumor size > 5 mm were independent risk factors for CLNM. The BRAF V600E mutation rate was 85%. Multivariate logistic regression analysis revealed that age ( P < 0.001) and coexistent HT ( P = 0.005) were independent predictive factors of BRAF V600E mutation in PTC patients. Only age was a risk factor for the BRAF V600E mutation when the tumor was > 10 mm ( P = 0.004). In the PTMC group, the BRAF V600E mutation was significantly correlated with tumor size ( P < 0.001) and coexistent HT ( P = 0.03). Stratified analysis revealed that age > 30 years and tumor size > 5 mm were independent predictive factors of BRAF V600E mutation. Furthermore, the incidence of CLNM was significantly higher in BRAF V600E mutation-positive patients ( P = 0.009) when the tumor was ≤ 5 mm. Conclusion The factors male, younger age (≤ 30 years), large tumor size (> 5 mm), and coexistent HT are independent predicative factors for CLNM. The BRAF V600E mutation is associated with both large size and without HT in PTMC patients, age > 30 years in the PTC > 10 mm group. The BRAF V600E mutation was an independent risk factor for CLNM when the tumor was ≤ 5 mm. For optimal management, these features should be comprehensively evaluated to determine the initial surgical approach for PTC patients.

Objective:The aim of the study is to evaluate the association of the BRAFV600E mutation with the clinicopathologic characteristics in Chinese population with papillary thyroid carcinoma (PTC).MethodsA total of 943 PTC patients who underwent thyroidectomy from 2014 to 2016 at Henan Provincial People’s Hospital were included in the present study. The BRAF V600E mutation was examined in each resected specimen by quantitative Real-time PCR (qRT-PCR) technique. Results The PTC patients were subclassified into the overall, PTC>10mm and papillary thyroid microcarcinoma(PTMC) groups. The positive rate of BRAF V600E mutation was 85.4% in Chinese patients with PTC. In both overall PTC and PTC> 10mm groups, the BRAF V600E mutation was much more frequently detected in elderly patients and patients at T1 stage ( P < 0.05). In addition, the positive rate of BRAF V600E mutation was significantly higher in PTC patients without concomitant Hashimoto’s thyroiditis in overall PTC and PTMC groups ( P< 0.05). Furthermore, logistic regression analysis suggested that the risk of having a larger tumor diameter was increased by 6-fold when BRAF V600E mutation in the PTMC group. No association between the BRAF V600E mutation and other clinicopathologic factors was observed. ConclusionThe BRAF V600E mutation was significantly associated with patients age and T stage. Furthermore, the risk of having a larger tumor size was significantly increased when BRAF V600E mutation in the PTMC group. which suggests that BRAF V600E mutation might play an important role in the activation of early thyroid carcinogenesis, the effect might weaken in the progression of PTC.

Objective: To investigate the role of DDX3 up-regulation in the proliferation of human cervical cancer cells and its correlation with clinical prognosis. Methods: Expression levels of DDX3 in the 59 specimens of cervical cancer and adjacent non-neoplastic tissue collected at Henan Provincial People's Hospital from April 2012 to March 2013 were detected using immunohistochemistry. A lentivirus-mediated DDX3-over-expression cell line was constructed based on HeLa cells of cervical cancer. CCK-8 assay was used to evaluate cell survival rate. Boyden chamber was used to measure the cell migration and invasion. Real-time fluorescence quantitative PCR was used to detect DDX3 expression level and Western blot was used to detect the expression of EMT and PI3K/Akt signal pathway-related proteins. Results: DDX3 overexpression was associated with FIGO stage, depth of cervical invasion and lymph node metastasis (P<0.05). Kaplan-Meier analysis revealed that cervical cancer patients with high expression of DDX3 had a poor overall survival (P<0.05). Compared with the cells transfected with pLVX-Con vector, the expression of DDX3 protein and mRNA was significantly increased in the cells transfected with pLVX-DDX3 (all P<0.01). Cell proliferation was significantly increased following transfection with pLVX-DDX3 for 72 h in HeLa cells compared with that transfected with pLVX-Con (P<0.05). Compared with the controls, DDX3 overexpression significantly promoted the migration and invasion of HeLa cells (P<0.05), and increased the expression of N-Cadherin, vimentin and Snail in HeLa cells (P<0.05). In pLVX-DDX3 group, the expression levels of β-catenin, phosphorylated Akt, and pAkt's downstream target p-GSK3β were significantly higher than those of pLVX-Con group (P<0.05). The expression levels of p-Akt, p-GSK3β and β-catenin were decreased when the PI3K/Akt pathway was blocked using the PI3K inhibitor LY294002 (P<0.05), and the expression levels of N-Cadherin, vimentin and Snail were also significantly decreased (P<0.05). Conclusions: DDX3 overexpression promotes proliferation, migration and invasion of cervical cancer cells, and induces epithelial-mesenchymal transition (EMT). Its mechanism may be related to activation of the PI3K/Akt signaling pathway.

上皮样血管周细胞肿瘤(PEComa)1992年Bonetti等[1]首次提出.PEComa可发生于肾、肝、肺、子宫、卵巢、胃肠道、胰腺、前列腺和软组织等部位,国内外报道发生于肝脏者多呈良性经过.现对伴颈部、纵隔淋巴结、肺、脑多处转移的肝脏PEComa临床病理特征进行研究,探讨良、恶性诊断标准,提高对该疾病的认识.报道如下.

Lymphoma is the malignant tumor in the lymphatic system. Circular RNAs (circRNAs) are non-coding RNAs with closed structure, which have been reported to perform critical functions in various tumor progressions. However, the role of circNSUN2 in lymphoma has not been well explored. Quantitative reverse transcription real-time polymerase chain reaction (RT-qPCR) assay was performed to test the expression of circNSUN2 in malignant lymphoma tissues and normal lymph tissues, as well as in human peripheral blood lymphocyte cell line and malignant lymphoma cell lines. Cell counting kit-8 (CCK-8) assay and Transwell assays were used to evaluate the function of circNSUN2 on lymphoma cell proliferation, migration and invasion. DNA pull-down assay, chromatin immunoprecipitation (ChIP) and luciferase reporter assay were employed to test the interaction between circNSUN2 and NRF1. TOP/FOP flash reporter assay was performed to detect influence of circNSUN2 on Wnt pathway. Luciferase reporter assay and RNA pull-down assay were performed to explore interaction between HMGA1 and circNSUN2 through Wnt pathway. CircNSUN2 expression was abnormally high in malignant lymphoma tissues and cell lines. CircNSUN2 inhibition could reduce proliferation and invasion of lymphoma. Bioinformatic analysis, DNA pull-down, ChIP and luciferase reporter experiments confirmed that circNSUN2 could be modulated by transcription factor NRF1. Through RT-qPCR, western blot and luciferase reporter assays, circNSUN2 was proved to influence Wnt pathway by modulating HMGA1. CircNSUN2 regulated by transcription factor NRF1 could promote lymphoma progression through activating Wnt pathway via stabilizing HMGA1.

Background As a significant cause of cancer deaths worldwide, breast cancer continues to be a troublesome malignancy. Long non-coding RNAs (lncRNAs) have been implicated in the development of breast cancer. Abnormal methylation has been associated with unfavorable breast cancer prognosis. Herein, the current study aimed to elucidate the role of lncRNA ROR in breast cancer. Methods RT-qPCR was performed to determine whether lncRNA ROR was highly expressed in breast cancer tissues, while lncRNA ROR expression was detected in both the nuclear and cytoplasm of breast cancer cells. MCF-7 cells were subsequently introduced with oe-lncRNA ROR, sh-lncRNA ROR to explore the effects of lncRNA ROR on cell proliferation, invasion and apoptosis. Results RIP, RNA pull-down and ChIP assays provided evidence suggesting that lncRNA ROR recruited transmethylase MLL1 to promote H3K4 trimethylation that enhanced TIMP3 transcription. The rescue experiments demonstrated that lncRNA ROR knockdown could inhibit the progression of breast cancer via the downregulation of TIMP3. Finally, the in vivo experiment findings consistently highlighted the suppressive effects of lncRNA ROR silencing on tumor growth. Conclusion Taken together, our study demonstrates that silencing of lncRNA ROR inhibits breast cancer progression via repression of transmethylase MLL1 and TIMP3, emphasizing the potential of lncRNA ROR as a novel target against breast cancer.

目的 总结乳腺血管肉瘤的临床病理及分子生物学特征.方法 回顾性分析3例乳腺血管肉瘤患者的临床病理特征、免疫组织化学及分子生物学检测结果.结果 肿块体积2.0 cm×2.0 cm×1.8 cm～14.0 cm×9.0 cm×4.0 cm;2例呈实性,1例呈蜂窝状.1例瘤组织由不规则互相吻合血管腔构成,管腔内皮扁平,无明显增生及细胞异型性;2例由梭形、上皮样细胞构成.组织学形态变化多样,表现类似良性血管瘤、低分化上皮癌或梭形细胞肉瘤.瘤细胞免疫组织化学显示CD31、CD34、FLI-1、ERG阳性.3例MYC基因均无扩增.结论 乳腺血管肉瘤组织学形态多样,免疫组织化学无特殊,需注意鉴别诊断.

Lynch综合征(Lynch syndrome,LS)是一组常染色体显性遗传的癌症综合征,主要包括结直肠癌(colorectal cancer,CRC)、子宫内膜癌(endometrial cancer,EC)以及卵巢癌(ovarian cancer,OC)[1].LS的发病根源是由于细胞DNA的错配修复(MMR)系统中的MLH1、MSH2、MSH6和PMS2的基因突变,其阻碍了细胞DNA合成过程中的错配修复[2].早期及时诊断可以对癌症的预测及下一步治疗产生影响.目前,已证实LS患者进行CRC监管可以获得很好的生存获益[3],而国际上LS相关CRC监管的临床指南,并不完全适合妇科肿瘤.在女性中,LS的首发肿瘤多为EC,而且由于子宫内膜癌的前驱症状较明显,临床多早期发现,早期诊断,预后相对较好.目前,全球尚无针对LS女性患者妇科监管的指导方案.因此,包括患者及患者利益代表的相关专业人士于2017年4月24日至25日集中在英国曼彻斯特举行了为期2天的会议,经过深入讨论后就LS相关妇科恶性肿瘤的诊断、预防及监管首次达成了共识.现就共识进行简要介绍.主要就4个方面进行解答.

Objective: To investigate the clinicopathological characteristics, histogenesis, immunophenotypes, molecular genetic characteristics, diagnosis and differential diagnosis of calcifying fibrous tumors (CFT). Methods: A total of 32 cases of CFT (22 cases from Henan Provincial People's Hospital and 10 cases from PLA Army Medical Center) diagnosed between June 2009 and February 2019 were reviewed. The clinical and pathologic data were analyzed. Results: There were 12 male and 20 female patients, aged from 15 to 63 years (mean 40.8 years). Eleven cases occurred in stomach, four cases in retroperitoneum, four cases in ovary, two cases in scrotum, two cases in mediastinum, two cases in head and neck, one case each in thoracic cavity, lung, adrenal gland, kidney, sigmoid colon, epididymis and mesosalpinx. All the tumors were solid masses with clear boundaries. The maximal dimension of the tumors ranged from 0.6 to 10.0 cm. Microscopically, there was hypocellular stromal sclerosis and wavy storiform coarse collagen with superimposed scattered or patchy lymphocytes and plasma cells; calcification or gravel formation were also detected. Immunohistochemistry showed that spindle cells were positive for vimentin and some were positive for CD34; and they were negative for calponin, SMA, desmin, S-100 protein, SOX10, STAT6, β-catenin, ALK, CD117, DOG1, CKpan, and EMA. No ALK rearrangement was detected by FISH in all cases. No C-KIT and PDGFRA mutation was detected in all the tested 11 cases of stomach, four cases of retroperitoneal and one case of sigmoid colon CFT. MDM2 was not amplified by FISH in all four tested cases of retroperitoneal CFT. Conclusions: CFT is a rare benign tumor of fibroblastic cell origin. The diagnosis mainly depends on histomorphologic analysis and immunophenotyping. CFT should be differentiated from other benign and malignant spindle cell mesenchymal tumors.

目的 探讨原发性肺朗格汉斯细胞组织细胞增生症(pulmonary Langerhans cell histiocytosis,PLCH)的临床病理学特征、诊断及鉴别诊断.方法 收集15例原发性PLCH的临床及影像学资料,行HE、免疫组化染色及BRAF V600E基因突变检测,并复习相关文献.结果 15例PLCH均为男性,年龄21～64岁(平均45岁).13例有吸烟史,所有患者均有咳嗽症状,并伴胸痛(4/15)、咯血(2/15)、气促(3/15)、咳痰(4/15)、胸腔积液(1/15)、发热(1/15).CT示双肺中上叶多发囊状透光影及少量结节影.镜下肺间质见朗格汉斯细胞增生形成的肉芽肿样结节伴数量不等的嗜酸性粒细胞浸润.免疫表型:朗格汉斯细胞CD1a(15/15)、Langerin(12/15)、S-100(14/15)阳性,CD68(3/15)散在阳性.3例检出BRAF V600E基因突变.13例吸烟患者采取戒烟治疗,其中9例同时行化疗.2例非吸烟患者分别行化疗、单独激素治疗.随访4 ～ 115个月,14例生存,1例死亡.结论 原发性PLCH好发于成年男性,多见于吸烟患者,明确诊断需依靠病理检查,以排除其他与PLCH临床表现及影像学改变相似的良、恶性病变,及时诊断、治疗,患者预后较好.