1.Diagnostic Value of Transrectal Contrast-Enhanced Ultrasound for Rectal Cancer With Intestinal Stenosis.
Qin FANG ; Qin-Xue LIU ; Min-Ying ZHONG ; Wei-Jun HUANG ; Yi-de QIU ; Guo-Liang JIAN
Acta Academiae Medicinae Sinicae 2025;47(5):738-743
Objective To evaluate the diagnostic value of transrectal contrast-enhanced ultrasound (CEUS) for rectal cancer with intestinal stenosis caused by tumors. Methods Forty-nine patients with rectal cancer underwent transrectal CEUS and magnetic resonance imaging (MRI) before surgery.Intraoperative tumor localization and postoperative pathological results were taken as the gold standard for diagnosis.The differences in T stage,localization,and tumor length of rectal cancer were compared between the two methods. Results The total accuracy rates of transrectal CEUS and MRI in diagnosing T stage were 75.5% (36/49) and 67.3% (33/49),which had no significant difference (χ2=0.8,P=0.371).The total accuracy rates of transrectal CEUS and MRI in judging tumor localization were 79.5% (39/49) and 77.5% (38/49),which had no significant difference (χ2=0.061,P=0.806).The measurement results of tumor length in pathological examination had no significant difference from the transrectal CEUS results (t=1.42,P=0.162) but a significant difference from the MRI results (t=3.38,P=0.001).Furthermore,transrectal CEUS detected 8 (16.3%) cases of colonic polyps among the 49 patients,while MRI did not detect colon lesions. Conclusions Transrectal CEUS has good consistency with MRI in T staging and localization judgement of rectal cancer with intestinal stenosis,and this method can more accurately evaluate the tumor length and simultaneously evaluate whether there is a lesion in the entire colon at the proximal end of stenosis.It can be used as a supplementary examination before rectal cancer treatment in clinical practice.
Humans
;
Rectal Neoplasms/complications*
;
Male
;
Middle Aged
;
Female
;
Aged
;
Contrast Media
;
Ultrasonography
;
Adult
;
Magnetic Resonance Imaging
;
Constriction, Pathologic/diagnostic imaging*
;
Aged, 80 and over
;
Intestinal Obstruction/etiology*
2.Efficacy and Safety of Venetoclax in Combination with Hypometh-ylating Agents for the Treatment of High-Risk Myelodysplastic Syndromes
Yang XU ; Jian ZHANG ; Zhi-Hong LIN ; Jun CHEN ; Li-Min LIU ; Hui-Ying QIU ; De-Pei WU
Journal of Experimental Hematology 2025;33(1):168-174
Objective:To investigate the clinical efficacy and safety of venetoclax(VEN)in combination with hypomethylating agent(HMA)in the treatment of patients with high-risk myelodysplastic syndromes(MDS).Methods:A total of 30 patients with high-risk MDS who received the combination of VEN and HMA from March 2019 to November 2022 were included.The overall response rate(ORR),modified overall response rate(mORR),overall survival(OS),progression-free survival(PFS),and adverse events of all included patients were evaluated.Results:Among the 30 high-risk MDS patients treated with VEN combined with HMA regimen,24 cases achieved complete response(CR)/marrow complete response(mCR),2 cases achieved partial response(PR),the ORR was 24/30,the median OS was 28.1 months,and the median PFS was 28.1 months.In addition,patients who achieved complete remission/marrow complete remission after treatment had a significantly longer OS than those who did not.Moreover,12 patients were treated with allogeneic hematopoietic stem cell transplantation(allo-HSCT).There were grade 3 or higher hematologic adverse events including thrombocytopenia(14 cases),neutropenia(14 cases),febrile neutropenia(10 cases)and anemia(7 cases)as well as gastrointestinal adverse events of any grade,such as vomiting(7 cases),diarrhea(5 cases),and constipation(4 cases).Conclusion:VEN in combination with HMA is an effective and safe treatment option in patients with high-risk MDS.This regimen combined with allo-HSCT can improve the prognosis of these patients.Continuous attention to the monitoring and management of adverse events is essential for the patients'safety in this combination therapy.
3.Analysis of viral infections in adult acute respiratory infection cases in Shanghai, 2023
Huanru WANG ; Jiabin MOU ; Qi QIU ; Jiajing LIU ; Fang YUAN ; Meihua LIU ; Xiaode TANG ; Jingyi ZHANG ; Jian CHEN ; Min CHEN ; Huanyu WU ; Zheng TENG
Chinese Journal of Experimental and Clinical Virology 2024;38(4):439-445
Objective:To elucidate the etiological and epidemiological characteristics and epidemiological patterns of viral acute respiratory infections (ARI) in Shanghai during 2023, with the aim of providing robust laboratory evidence for effective prevention and control strategies against related respiratory diseases and facilitating risk assessment.Methods:Respiratory pathogens were detected in the clinical surveillance specimens submitted by sentinel hospitals through multiplex PCR, as part of the multi-pathogen surveillance of acute respiratory infections in Shanghai during 2023. The obtained detection result were statistically analyzed in conjunction with sample information.Results:The positive detection rate of viral pathogens in 2023 was 21.17% (984/4 648), with rates of 33.53% (504/1 503) observed in ILI cases and 15.62% (480/3 145) in SARI cases. Influenza A virus (FluA) was the predominant virus detected, accounting for 13.7% (637/4 648). Other viruses identified in the surveillance samples included influenza B virus (Flu B), human rhinovirus/enterovirus (HRV/HEV), respiratory syncytial virus (RSV), human metapneumovirus (HMPV), parainfluenza virus (PIV), adenovirus (ADV) and human bocavirus (HBoV). Regarding temporal distribution, HRV/HEV and RSV exhibited the highest detection rates during the second quarter at 2.27% each (28/1 236). PIV had its peak during the third quarter at a rate of 2.49% (35/1 405), and HMPV showed prevalence mainly during the third and fourth quarters, with detection rates of 2.63% (37/1 405) and 2.35% (32/1 360), respectively.Conclusions:In acute respiratory infection surveillance cases in Shanghai in 2023, Flu A emerged as the predominant respiratory pathogen. The detection rate of HMPV ranked second only to Flu A, while other respiratory viruses such as HRV/HEV, RSV, and PIV were detected during different seasons and co-circulated. The prevalence of various respiratory viruses varied among different infected populations and over times.
4.Clinical Characteristics and Medium to Long-term Follow-ups of Surgery for 23 Cases of Clear Cell Papillary Renal Cell Tumor
Min QIU ; Xiushi LIN ; Xiaojun TIAN ; Min LU ; Jian LU ; Xiaofei HOU ; Lei ZHAO ; Guoliang WANG ; Lulin MA ; Shudong ZHANG
Chinese Journal of Minimally Invasive Surgery 2024;24(11):721-725
Objective To investigate the clinicopathologic characteristics of clear cell papillary renal cell tumor and the medium to long-term effect of surgical treatment.Methods A total of 23 cases of clear cell papillary renal cell tumor treated in our department from October 2013 to January 2024 were retrospectively analyzed.For patients undergoing partial nephrectomy,the renal artery was dissociated and blocked through abdominal or retroperitoneal approach to remove the tumor,and then the wound was sutured.For patients undergoing radical nephrectomy,the renal artery,vein,and ureter were dissociated and clipped by Hem-o-lok for cutting off,and then the kidney was removed.Results The operations were accomplished in all the patients,including 18 laparoscopic operations and 5 robot-assisted laparoscopic operations.Among them,17 cases underwent partial nephrectomy,with an operating time of 73-229 min (median,149 min),blocking time of 9-35 min (median,21 min),blood loss of 10-100 ml ( median,20 ml),and postoperative hospitalization time of 3-28 d ( median,6 d).Six cases underwent radical nephrectomy,with an operating time of 110-232 min ( median,123 min),blood loss of 5-200 ml ( median,10 ml),and postoperative hospitalization time of 3-7 d ( median,4 d).Postoperative pathology showed clear cell papillary renal cell tumor with nuclear grade ( WHO/ISUP grade) of Ⅰ-Ⅱ.The 23 cases were followed up for 7-121 months (mean,53 months),of which 10 cases were followed up for more than 3 years and 9 cases for more than 5 years.One case was found to have contralateral renal lesions one year after operation and underwent laparoscopic partial nephrectomy,with a pathological result of clear cell papillary renal cell tumor.Subsequent re-examinations showed that there were cysts in both kidneys.At 7 years after the first operation,solid nodules in both kidneys were found,and a recurrence was considered.The patient was given active monitoring for 2 years ( CT re-examinations every 3-6 months) and was in stable condition.Another case was found gastric cardia tubular adenocarcinoma at 29 months after operation and was resected under gastroscopy.No recurrence was found during follow-ups for 121 months.The remaining 21 cases had no recurrence.Conclusions Preoperative diagnosis of clear cell papillary renal cell tumor is difficult,and surgery is an effective method for treating this disease.Medium to long-term follow-up shows a good prognosis,but there are still some cases of recurrence or combined with multiple primary cancer.Postoperative follow-ups should be noted.
5.Clinical Characteristics and Medium to Long-term Follow-ups of Surgery for 23 Cases of Clear Cell Papillary Renal Cell Tumor
Min QIU ; Xiushi LIN ; Xiaojun TIAN ; Min LU ; Jian LU ; Xiaofei HOU ; Lei ZHAO ; Guoliang WANG ; Lulin MA ; Shudong ZHANG
Chinese Journal of Minimally Invasive Surgery 2024;24(11):721-725
Objective To investigate the clinicopathologic characteristics of clear cell papillary renal cell tumor and the medium to long-term effect of surgical treatment.Methods A total of 23 cases of clear cell papillary renal cell tumor treated in our department from October 2013 to January 2024 were retrospectively analyzed.For patients undergoing partial nephrectomy,the renal artery was dissociated and blocked through abdominal or retroperitoneal approach to remove the tumor,and then the wound was sutured.For patients undergoing radical nephrectomy,the renal artery,vein,and ureter were dissociated and clipped by Hem-o-lok for cutting off,and then the kidney was removed.Results The operations were accomplished in all the patients,including 18 laparoscopic operations and 5 robot-assisted laparoscopic operations.Among them,17 cases underwent partial nephrectomy,with an operating time of 73-229 min (median,149 min),blocking time of 9-35 min (median,21 min),blood loss of 10-100 ml ( median,20 ml),and postoperative hospitalization time of 3-28 d ( median,6 d).Six cases underwent radical nephrectomy,with an operating time of 110-232 min ( median,123 min),blood loss of 5-200 ml ( median,10 ml),and postoperative hospitalization time of 3-7 d ( median,4 d).Postoperative pathology showed clear cell papillary renal cell tumor with nuclear grade ( WHO/ISUP grade) of Ⅰ-Ⅱ.The 23 cases were followed up for 7-121 months (mean,53 months),of which 10 cases were followed up for more than 3 years and 9 cases for more than 5 years.One case was found to have contralateral renal lesions one year after operation and underwent laparoscopic partial nephrectomy,with a pathological result of clear cell papillary renal cell tumor.Subsequent re-examinations showed that there were cysts in both kidneys.At 7 years after the first operation,solid nodules in both kidneys were found,and a recurrence was considered.The patient was given active monitoring for 2 years ( CT re-examinations every 3-6 months) and was in stable condition.Another case was found gastric cardia tubular adenocarcinoma at 29 months after operation and was resected under gastroscopy.No recurrence was found during follow-ups for 121 months.The remaining 21 cases had no recurrence.Conclusions Preoperative diagnosis of clear cell papillary renal cell tumor is difficult,and surgery is an effective method for treating this disease.Medium to long-term follow-up shows a good prognosis,but there are still some cases of recurrence or combined with multiple primary cancer.Postoperative follow-ups should be noted.
6.Maintenance of efficacy and its predictors after discontinuation of eltrombopag in adults with primary immune thrombocytopenia.
Hui Ping SUN ; Jian Hua YOU ; Qiu Sheng CHEN ; Jin WANG ; Jun Min LI
Chinese Journal of Hematology 2023;44(1):32-37
Objective: To determine the efficacy of eltrombopag for primary immune thrombocytopenia (ITP) in adults and the predictive factors for treatment-free response (TFR) . Methods: Clinical data of adults with ITP who received eltrombopag from June 14, 2013 to May 31, 2021 in the Hematology Department of Ruijin Hospital affiliated with Shanghai Jiao Tong University Medical College were retrospectively analyzed. The initial dose of eltrombopag was 25 mg/d, and the maximum dose was 75 mg/d; the dose was adjusted to maintain the platelet count to within 50-150×10(9)/L. Treatment was discontinued according either to the protocol, on the patient's wishes or doctor's judgment (prescription medication), or based on clinical trials. The efficacy of eltrombopag and factors for TFR among patients who achieved complete response and those who discontinued treatment were analyzed. Results: Overall, 106 patients with ITP (33 men and 73 women) were included in the study. The median age of patients was 50 (18-89) years. There were 2, 10, and 94 cases of newly diagnosed, persistent, and chronic ITP, respectively. The complete response rate was 44.3% (47/106), the response rate was 34.0% (36/106), and the overall response rate was 78.3% (83/106). Meanwhile, 83 patients who responded to treatment discontinued eltrombopag; of these, 81 patients were evaluated. Additionally, 17 patients (21.0%) achieved TFR. The median follow-up duration of patients who achieved TFR was 126 (30-170) weeks. The recurrence rate was 17.6% (3/17), and the relapse-free survival rate was 76.5%. The results of univariate analysis revealed that non-recurrence after discontinuation of other treatments for ITP (P=0.001), and platelet count and eltrombopag dose of ≥100×10(9)/L (P=0.007) and ≤25 mg/d (P=0.031), respectively, upon discontinuation of eltrombopag were predictors of TFR; these effects were attributed to prolonged effective duration of eltrombopag. Multivariate analysis showed that there was a correlation between non-recurrence and prolonged effective duration after discontinuation of other treatments for ITP (P=0.002) . Conclusion: Eltrombopag is effective for patients with ITP as it can result in TFR. Predictors for TFR include non-recurrence after discontinuation of concomitant ITP treatment, and platelet count and eltrombopag dose of ≥100 × 10(9)/L and ≤25 mg/d upon discontinuation of treatment, respectively.
Male
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Humans
;
Adult
;
Female
;
Middle Aged
;
Aged
;
Aged, 80 and over
;
Purpura, Thrombocytopenic, Idiopathic/diagnosis*
;
Retrospective Studies
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Treatment Outcome
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China/epidemiology*
;
Benzoates/therapeutic use*
7.Genetic Subtypes and Pretreatment Drug Resistance in the Newly Reported Human Immunodeficiency Virus-Infected Men Aged≥50 Years Old in Guangxi.
Ning-Ye FANG ; Wen-Cui WEI ; Jian-Jun LI ; Ping CEN ; Xian-Xiang FENG ; Dong YANG ; Kai-Ling TANG ; Shu-Jia LIANG ; Yu-Lan SHAO ; Hua-Xiang LU ; He JIANG ; Qin MENG ; Shuai-Feng LIU ; Qiu-Ying ZHU ; Huan-Huan CHEN ; Guang-Hua LAN ; Shi-Xiong YANG ; Li-Fang ZHOU ; Jing-Lin MO ; Xian-Min GE
Acta Academiae Medicinae Sinicae 2023;45(3):399-404
Objective To analyze the genetic subtypes of human immunodeficiency virus (HIV) and the prevalence of pretreatment drug resistance in the newly reported HIV-infected men in Guangxi. Methods The stratified random sampling method was employed to select the newly reported HIV-infected men aged≥50 years old in 14 cities of Guangxi from January to June in 2020.The pol gene of HIV-1 was amplified by nested reverse transcription polymerase chain reaction and then sequenced.The mutation sites associated with drug resistance and the degree of drug resistance were then analyzed. Results A total of 615 HIV-infected men were included in the study.The genetic subtypes of CRF01_AE,CRF07_BC,and CRF08_BC accounted for 57.4% (353/615),17.1% (105/615),and 22.4% (138/615),respectively.The mutations associated with the resistance to nucleoside reverse transcriptase inhibitors (NRTI),non-nucleoside reverse transcriptase inhibitors (NNRTI),and protease inhibitors occurred in 8 (1.3%),18 (2.9%),and 0 patients,respectively.M184V (0.7%) and K103N (1.8%) were the mutations with the highest occurrence rates for the resistance to NRTIs and NNRTIs,respectively.Twenty-two (3.6%) patients were resistant to at least one type of inhibitors.Specifically,4 (0.7%),14 (2.3%),4 (0.7%),and 0 patients were resistant to NRTIs,NNRTIs,both NRTIs and NNRTIs,and protease inhibitors,respectively.The pretreatment resistance to NNRTIs had much higher frequency than that to NRTIs (2.9% vs.1.3%;χ2=3.929,P=0.047).The prevalence of pretreatment resistance to lamivudine,zidovudine,tenofovir,abacavir,rilpivirine,efavirenz,nevirapine,and lopinavir/ritonavir was 0.8%, 0.3%, 0.7%, 1.0%, 1.3%, 2.8%, 2.9%, and 0, respectively. Conclusions CRF01_AE,CRF07_BC,and CRF08_BC are the three major strains of HIV-infected men≥50 years old newly reported in Guangxi,2020,and the pretreatment drug resistance demonstrates low prevalence.
Male
;
Humans
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Middle Aged
;
Reverse Transcriptase Inhibitors/therapeutic use*
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HIV Infections/drug therapy*
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Drug Resistance, Viral/genetics*
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China/epidemiology*
;
Mutation
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HIV-1/genetics*
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Protease Inhibitors/therapeutic use*
;
Genotype
8.Establishment of leukemia cell model with inducible AML1-ETO expression and its effect on fatty acid metabolism in leukemia cells.
Wan Qing XIE ; Xue YANG ; Run Xia GU ; Zheng TIAN ; Hai Yan XING ; Ke Jing TANG ; Qing RAO ; Shao Wei QIU ; Min WANG ; Jian Xiang WANG
Chinese Journal of Hematology 2023;44(5):366-372
Objective: To investigate the effect of the AML1-ETO (AE) fusion gene on the biological function of U937 leukemia cells by establishing a leukemia cell model that induces AE fusion gene expression. Methods: The doxycycline (Dox) -dependent expression of the AE fusion gene in the U937 cell line (U937-AE) were established using a lentivirus vector system. The Cell Counting Kit 8 methods, including the PI and sidanilide induction, were used to detect cell proliferation, cell cycle-induced differentiation assays, respectively. The effect of the AE fusion gene on the biological function of U937-AE cells was preliminarily explored using transcriptome sequencing and metabonomic sequencing. Results: ①The Dox-dependent Tet-on regulatory system was successfully constructed to regulate the stable AE fusion gene expression in U937-AE cells. ②Cell proliferation slowed down and the cell proliferation rate with AE expression (3.47±0.07) was lower than AE non-expression (3.86 ± 0.05) after inducing the AE fusion gene expression for 24 h (P<0.05). The proportion of cells in the G(0)/G(1) phase in the cell cycle increased, with AE expression [ (63.45±3.10) %) ] was higher than AE non-expression [ (41.36± 9.56) %] (P<0.05). The proportion of cells expressing CD13 and CD14 decreased with the expression of AE. The AE negative group is significantly higher than the AE positive group (P<0.05). ③The enrichment analysis of the transcriptome sequencing gene set revealed significantly enriched quiescence, nuclear factor kappa-light-chain-enhancer of activated B cells, interferon-α/γ, and other inflammatory response and immune regulation signals after AE expression. ④Disorder of fatty acid metabolism of U937-AE cells occurred under the influence of AE. The concentration of the medium and short-chain fatty acid acylcarnitine metabolites decreased in cells with AE expressing, propionyl L-carnitine, wherein those with AE expression (0.46±0.13) were lower than those with AE non-expression (1.00±0.27) (P<0.05). The metabolite concentration of some long-chain fatty acid acylcarnitine increased in cells with AE expressing tetradecanoyl carnitine, wherein those with AE expression (1.26±0.01) were higher than those with AE non-expression (1.00±0.05) (P<0.05) . Conclusion: This study successfully established a leukemia cell model that can induce AE expression. The AE expression blocked the cell cycle and inhibited cell differentiation. The gene sets related to the inflammatory reactions was significantly enriched in U937-AE cells that express AE, and fatty acid metabolism was disordered.
Humans
;
U937 Cells
;
RUNX1 Translocation Partner 1 Protein
;
Leukemia/genetics*
;
Core Binding Factor Alpha 2 Subunit/genetics*
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Oncogene Proteins, Fusion/genetics*
;
Leukemia, Myeloid, Acute/genetics*
9.Evaluation of the efficacy and safety of Nocardia rubra cell wall skeleton immunotherapy for cervical high-risk HPV persistent infection.
Fei CHEN ; Wen DI ; Yuan Jing HU ; Chang Zhong LI ; Fei WANG ; Hua DUAN ; Jun LIU ; Shu Zhong YAO ; You Zhong ZHANG ; Rui Xia GUO ; Jian Dong WANG ; Jian Liu WANG ; Yu Quan ZHANG ; Min WANG ; Zhong Qiu LIN ; Jing He LANG
Chinese Journal of Obstetrics and Gynecology 2023;58(7):536-545
Objective: To evaluate the efficacy and safety of Nocardia rubra cell wall skeleton (Nr-CWS) in the treatment of persistent cervical high-risk human papillomavirus (HR-HPV) infection. Methods: A randomized, double blind, multi-center trial was conducted. A total of 688 patients with clinically and pathologically confirmed HR-HPV infection of the cervix diagnosed in 13 hispital nationwide were recruited and divided into: (1) patients with simple HR-HPV infection lasting for 12 months or more; (2) patients with cervical intraepithelial neoplasia (CIN) Ⅰ and HR-HPV infection lasting for 12 months or more; (3) patients with the same HR-HPV subtype with no CINⅡ and more lesions after treatment with CINⅡ or CIN Ⅲ (CINⅡ/CIN Ⅲ). All participants were randomly divided into the test group and the control group at a ratio of 2∶1. The test group was locally treated with Nr-CWS freeze-dried powder and the control group was treated with freeze-dried powder without Nr-CWS. The efficacy and negative conversion rate of various subtypes of HR-HPV were evaluated at 1, 4, 8, and 12 months after treatment. The safety indicators of initial diagnosis and treatment were observed. Results: (1) This study included 555 patients with HR-HPV infection in the cervix (included 368 in the test group and 187 in the control group), with an age of (44.1±10.0) years. The baseline characteristics of the two groups of subjects, including age, proportion of Han people, weight, composition of HR-HPV subtypes, and proportion of each subgroup, were compared with no statistically significant differences (all P>0.05). (2) After 12 months of treatment, the effective rates of the test group and the control group were 91.0% (335/368) and 44.9% (84/187), respectively. The difference between the two groups was statistically significant (χ2=142.520, P<0.001). After 12 months of treatment, the negative conversion rates of HPV 16, 18, 52, and 58 infection in the test group were 79.2% (84/106), 73.3% (22/30), 83.1% (54/65), and 77.4% (48/62), respectively. The control group were 21.6% (11/51), 1/9, 35.1% (13/37), and 20.0% (8/40), respectively. The differences between the two groups were statistically significant (all P<0.001). (3) There were no statistically significant differences in vital signs (body weight, body temperature, respiration, pulse rate, systolic blood pressure, diastolic blood pressure, etc.) and laboratory routine indicators (blood cell analysis, urine routine examination) between the test group and the control group before treatment and at 1, 4, 8, and 12 months after treatment (all P>0.05); there was no statistically significant difference in the incidence of adverse reactions related to the investigational drug between the two groups of subjects [8.7% (32/368) vs 8.0% (15/187), respectively; χ2=0.073, P=0.787]. Conclusion: External use of Nr-CWS has good efficacy and safety in the treatment of high-risk HPV persistent infection in the cervix.
Female
;
Humans
;
Adult
;
Middle Aged
;
Cervix Uteri/pathology*
;
Uterine Cervical Neoplasms/pathology*
;
Papillomavirus Infections/diagnosis*
;
Cell Wall Skeleton
;
Persistent Infection
;
Powders
;
Uterine Cervical Dysplasia/pathology*
;
Immunotherapy
;
Papillomaviridae
10.Fibroma of tendon sheath: a clinicopathological and genetic analysis of 134 cases.
Jian CUI ; Ya LU ; Yan QIU ; Xin HE ; Min CHEN ; Hong Ying ZHANG
Chinese Journal of Pathology 2023;52(4):364-369
Objective: To investigate the clinicopathological features, immunophenotypes and molecular genetics of fibroma of tendon sheath (FTS). Methods: One hundred and thirty-four cases of FTS or tenosynovial fibroma diagnosed in the Department of Pathology, West China Hospital, Sichuan University, Chengdu, China from January 2008 to April 2019 were selected. The clinical and histologic features of these cases were retrospectively reviewed. Immunohistochemistry, fluorescence in situ hybridization (FISH) and reverse transcription-polymerase chain reaction (RT-PCR) were performed on the above cases. Results: There were a total of 134 cases of FTS, including 67 males and 67 females. The patients' median age was 38 years (ranged from 2 to 85 years). The median tumor size was 1.8 cm (ranged from 0.1 to 6.8 cm). The most common site was the upper extremity (76/134, 57%). Follow-up data was available in 28 cases and there was no detectable recurrence. Classic FTS (114 cases) were well-defined and hypocellular. A few spindle-shaped fibroblasts were scattered in the dense collagenous sclerotic stroma. Characteristically elongated slit-like spaces or thin-walled vessels were observed. Most of cellular FTSs (20 cases) were well-defined and the area with increased cellularity of the spindle cells coexisted with classic FTS. There were occasional mitotic figures, but no atypical mitotic figures. Immunohistochemistry was performed in 8 cases of classic FTS and most cases were positive for SMA (5/8). Immunohistochemistry was also performed in 13 cases of cellular FTS and showed 100% positive rate for SMA. FISH was conducted on 20 cases of cellular FTS and 32 cases of classical FTS. USP6 gene rearrangement was found in 11/20 of cellular FTS. Among 12 cases of CFTS with nodular fasciitis (NF)-like morphological feature, 7 cases showed USP6 gene rearrangement. The rearrangement proportion of USP6 gene in cellular FTS without NF-like morphological features was 4/8. By contrast, 3% (1/32) of the classic FTS showed USP6 gene rearrangement. RT-PCR was performed in those cases with detected USP6 gene rearrangement and sufficient tissue samples for RT-PCR. The MYH9-USP6 fusion gene was detected in 1 case (1/8) of the cellular FTSs, while no target fusion partner was detected in the classic FTS. Conclusions: FTS is a relatively rare benign fibroblastic or myofibroblastic tumor. Our study and recent literature find that some of the classic FTS also show USP6 gene rearrangements, suggesting that classical FTS and cellular FTS are likely to be at different stages of the same disease (spectrum). FISH for USP6 gene rearrangement may be used as an important auxiliary diagnostic tool in distinguishing FTS from other tumors.
Male
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Female
;
Humans
;
Gene Rearrangement
;
In Situ Hybridization, Fluorescence
;
Retrospective Studies
;
Fibroma/pathology*
;
Fasciitis/genetics*
;
Ubiquitin Thiolesterase
;
Tendons/pathology*

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