1.Minor children parenting concerns in young and middle-aged breast cancer patients:a study on influencing factors based on random forest model
Yifen SONG ; Xianglian SUN ; Chen LIU ; Jinlei ZHANG ; Xiaoxiao YIN ; Yaqing ZHANG ; Weihui JIA ; Chonggao YIN
Modern Clinical Nursing 2025;24(2):1-9
Objective To explore the current status of minor children parenting concerns among young and middle-aged breast cancer patients and investigate the influencing factors based on a random forest model so as to provide references for clinical interventions.Methods A convenience sampling method was used to select breast cancer patients undergoing treatment in our hospital between April and December 2023.A self-designed general information questionnaire,the Chinese version of parenting concerns questionnaire(PCQ),perceived social support scale(PSSS),concern about recurrence scale(CARS),and the brief illness perception questionnaire(BIPQ)were used for the study.A random forest model and the least absolute shrinkage and selection operator(LASSO)were employed to prioritise variables and filtered by significance.The selected variables were then incorporated into the multiple linear regression analysis.Results A total of 260 patients completed the study.The score of minor children parenting concerns of young and middle-aged breast cancer patients was 51.1±6.4.The multiple linear regression analysis,which included variables determined by random forest and LASSO regression(and sorted by the importance of influencing factors),showed that higher disease perception,lower perceived social support,greater concern about cancer recurrence,stage IV tumors,being divorced/widowed,and having more minor children were associated with higher parenting concerns among young and middle-aged breast cancer patients(all P<0.05),accounting for 57.0%of the total variance.Conclusion The minor children parenting concerns in young and middle-aged breast cancer patients are at a moderately high level and are influenced by a variety of factors.Healthcare professionals should develop targeted measures and interventions to reduce the parenting concerns among the patients.
2.SMARCB1-deficient renal medullary carcinoma without sickle cell trait: clinicopathological and molecular characteristics
Huizhi ZHANG ; Jun HOU ; Xiaoqun YANG ; Qiuyuan XIA ; Suying WANG ; Yifen ZHANG ; Hong CHEN ; Xiaohui DING ; Heli WANG ; Ming ZHAO
Chinese Journal of Pathology 2025;54(8):838-844
Objective:To investigate the clinicopathological features including immunophenotype, molecular characteristics, differential diagnosis and prognosis of SMARCB1-deficient renal medullary carcinoma (RMC) without sickle cell trait.Methods:The clinicopathological data of 12 cases of SMARCB1-deficient RMC without sickle cell trait were collected from 7 domestic institutions during the period of 2015 to 2024. Their clinical characteristics, morphological features and immunohistochemical properties were observed and analyzed. High-throughput DNA-targeted next-generation sequencing was performed, and follow-up data were gathered along with relevant literature review.Results:Among the 12 patients, 5 were female and 7 were male. The patients age ranged from 27 to 84 years with a median age of 58.5 (46.0, 71.0) years. None of them had sickle cell disease or other hemoglobinopathies. Eight cases occurred in the left kidney and 4 cases were located in the right kidney. The average maximum diameter of the tumor was 6.1 (4.0,7.5) cm, with a range of 2.0 to 14.9 cm (the median maximum diameter 5.5 cm). Histologically, the tumors showed poorly differentiated adenocarcinoma, arranged in solid and tubular patterns. Papillary structure was noted in 5 cases, cribriform structure in 3 cases, rhabdoid differentiation in 3 cases, and sarcomatoid differentiation in 2 cases. Inflammatory desmoplastic stromal reaction was observed in 8 cases, among which stromal myxoid degeneration was seen in 6 cases. Tumor necrosis was apparent in 6 cases. The tumor cells had abundant eosinophilic or clear cytoplasm and prominent nucleoli. The nuclear grading was grade 3 or 4 according to the International Society of Urological Pathology (ISUP). Immunohistochemical staining showed that the tumor cells of all 12 cases expressed PAX8 and loss of SMARCB1/INI1 protein expression, and 5 of 10 cases expressed OCT3/4. Seven samples had valid archived paraffin tissues for high-throughput DNA-targeted next-generation sequencing. The results showed that all 7 cases had pathogenic mutations in the SMARCB1 gene. The mutation sites included exon5 c.595A>T (p.K199*), exon2 c.200_207del (p.S67*), exon2 p.G69VfsTer16, exon7 c.986G>T (p.S329I), exon7 c.886A>T (p.K296*), exon6 c.635T>A (p.L212*), exon5 c.577del (p.M193Wfs16), and exon6 c.784del (p.V262Sfs5). Follow-up data were obtained for 6 of 12 patients. Among them, 1 patient had lung and bone metastases, 1 patient had liver and bone metastases and 1 patient had multiple bone metastases at the time of diagnosis; 1 patient had bone metastases 5 months after surgery. One patient died of postoperative complications 10 days after surgery, 4 patients died of tumors (the survival time ranged from 4 to 8 months), and 1 patient had no recurrence or metastasis during the 8-month follow-up after surgery.Conclusions:SMARCB1-deficient RMC without sickle cell trait is a highly aggressive and poorly differentiated renal cell carcinoma. It has similar histomorphology, immunophenotype, molecular characteristics and prognosis to RMC, which further supports that it is a sporadic subtype of RMC related to sickle cell trait.
3.Characteristics of crystalline lens tilt and decentration distribution and related factors in patients with age-related cataract
Yifen WU ; Ying ZHANG ; Yong WANG
Chinese Journal of Experimental Ophthalmology 2025;43(3):233-240
Objective:To investigate the characteristics of crystalline lens tilt and decentration distribution in age-related cataract patients and analyze the related factors.Methods:A cross-sectional study was conducted.A total of 585 consecutive patients (1 170 eyes) with bilateral age-related cataracts over the age of 50 were enrolled at Aier Eye Hospital of Wuhan University from January 2022 to March 2022.Bilateral crystalline lens tilt and decentration magnitude and direction were measured by swept-source anterior segment optical coherence tomography.Corneal curvature, white-to-white corneal diameter, anterior chamber depth, lens thickness and axial length were measured using a swept-source optical coherence tomography biometer.The correlation of tilt magnitude and decentration magnitude of crystalline lens was assessed by Pearson linear correlation analysis.The correlation of tilt direction and decentration direction of crystalline lens was assessed by Spearman rank correlation analysis.The influence of age and ocular biometric parameters on crystalline lens tilt and decentration was analyzed by multiple linear regression analysis.This study adhered to the Declaration of Helsinki and was approved by the Ethics Committee of Aier Eye Hospital of Wuhan University (No.2022IRBKY0617).All patients signed the informed consent form before any medical examination.Results:The mean tilt magnitude was (4.69±1.59)°, of which 6.7% had a tillt ≥7°, and the direction was mainly toward the inferotemporal side with a mirror symmetry between both eyes.The mean decentration magnitude was (0.19±0.11)mm, of which 5.3% had a decentration ≥0.4 mm, and the direction was mainly towards the temporal side.The crystalline lens tilt magnitude was positively correlated with decentration magnitude ( r=0.422, P<0.001) and the crystalline lens tilt direction was positively correlated with decentration direction ( rs=0.432, P<0.001).There was no significant difference in crystalline lens tilt magnitude between both eyes ( t=0.487, P=0.626), and the crystalline lens decentration was significantly greater in the right eye than in the left eye, with statistically significant difference ( t=2.563, P=0.011).There was no significant difference in crystalline lens tilt and decentration between male and female ( t=1.500, 1.566; both P>0.05).The crystalline lens tilt magnitude was significantly greater in 60-69 years, 70-79 years and 80-89 years groups than in 50-59 years group, and the crystalline lens decentration magnitude was significantly greater in the 80-89 years group than in the 60-69 years group (all P<0.05).The crystalline lens tilt magnitude was smaller in the axial length ≥25 mm group than in the <22 mm group and the 22-<25 mm group, and the differences were statistically significant (both P<0.001).There was no significant difference in crystalline lens decentration magnitude among different axial length groups ( F=1.433, P=0.239).The multiple linear regression analysis revealed that the effects of anterior chamber depth ( B=-0.474, t=-2.115, P=0.035), axial length ( B=-0.258, t=-9.324, P<0.001) and crystalline lens decentration ( B=5.646, t=11.234, P<0.001) on crystalline lens tilt were statistically significant.The influence of lens thickness ( B=-0.032, t=-2.402, P=0.017), axial length ( B=0.010, t=4.406, P<0.001) and crystalline lens tilt ( B=0.032, t=11.234, P<0.001) on crystalline lens decentration were statistically significant. Conclusions:Among age-related cataract patients aged 50 and above, 6.7% have crystalline lens tilt ≥7°, and 5.3% have crystalline lens decentration ≥0.4 mm.The older the age, the greater the crystalline lens tilt and decentration.The shorter the axial length and the shallower the anterior chamber, the greater the tilt of the lens.The greater the tilt magnitude and decentration, the greater the decentration magnitude and decentration.
4.Clinicopathological analysis of 12 cases of CD23-positive diffuse large B-cell lym-phoma
Susu ZHAO ; Fei KE ; Hui YU ; Xiaoli CHEN ; Yaohui WANG ; Shuangshuang WANG ; Yifen ZHANG
Chinese Journal of Clinical and Experimental Pathology 2025;41(8):1011-1016
Purpose To investigate the clinicopathological features and possible tumor-associated immune micro-environment in CD23-positive diffuse large B-cell lymphoma(DLBCL).Methods The clinicopathological data of 12 cases of CD23-positive DLBCL patients were analyzed retrospectively.The clinical and pathological features were ana-lyzed,and the clinical correlation and tumor-associated immune invasion were studied.Results CD23-positive DL-BCL accounted for 9.45%of all DLBCL.There were 6 males and 6 females.The mean age of onset was 64.83 years old.Four DLBCL cases occurred in lymph nodes and 8 cases occurred outside lymph nodes.Nine DLBCL cases were in advanced stage(Ⅲ-Ⅳ)and 3 cases DLBCL were in early stage(Ⅰ-Ⅱ).Among the patients,3 cases were untreated and lost to follow-up.One case deteriorated and died after operation.Two cases died,1 case progressed and 5 cases partially recovered after chemotherapy.Microscopically,the tumor cells were diffusely infiltrated and destroyed the nor-mal tissue structure.The tumor cells were observed to be centroblastic,immunoblastic and anaplastic large cells.No blastoid transformation and plasmacytoid differentiation were observed in morphology.According to Hans algorithm,11 cases were non-GCB phenotype except 1 case was GCB phenotype.Bioinformatics studies revealed that CD23 expres-sion was correlated with regulatory T cells,NK cells,plasma-like dendritic cells and neutrophils.Conclusion CD23-positive DLBCL patients are mainly middle-aged and elderly,and most of them occur outside lymph nodes and in ad-vanced stage(Ⅲ-Ⅳ).Follow-up results show that their prognosis is poor.Morphologically,there is no significant difference between DLBCL and conventional DLBCL.The Hans classification suggests that most cases originated from activated B cells.CD23 expression may play a role in the immune microenvironment of DLBCL.
5.Clinicopathological analysis of 200 cases of traditional serrated adenoma
Li LI ; Hui LI ; Jie CHEN ; Mei HAN ; Xiuqing LI ; Fei KE ; Yifen ZHANG
Chinese Journal of Clinical and Experimental Pathology 2025;41(3):345-351
Purpose To investigate the clinicopathological features of traditional serrated adenoma(TSA).Methods A retrospective analysis was conducted on the clinical data,endoscopic,and pathological features of 200 TSA patients.HE staining and immunohistochemical staining were performed.The clinical pathological features were statistically analyzed using x2 test,and relevant literature was reviewed.Results There were 114 males(57.0%)and 86 females(43.0%),with ages ranging from 27 to 92 years(mean age 56.2 years).Among the patients,147(73.5%)were aged ≥ 50 years,and 53(26.5%)were aged<50 years.Of the 207 TSA lesions,143(69.1%)were located in the distal colon and rectum,while 57(27.5%)were in the proximal colon and rectum.Endoscopic features included 72 lesions(34.8%)with a perpendiculated appearance,48 lesions(23.2%)with a flat appear-ance,and some exhibiting a pinecone-like appearance.The maximum diameter of the lesions was ≤ 10 mm in 136 ca-ses(65.7%),and>10 mm in 71 cases(34.3%).The typical histopathological features of TSA included serrated contours,eosinophilic cytoplasm,pencil-like nuclei,and ectopic crypt foci.The most common pathological type was the classic TSA(152 lesions,73.4%),followed by the mucin-rich TSA(39 lesions,18.8%).12 cases(5.8%)of TSA exhibited high-grade intraepithelial neoplasia(HGIN)and 3 case(1.5%)of TSA progressed to carcinoma,con-sistent with TSA-originated colorectal cancer(TSA-CRC).Immunophenotype:in 34 cases TSA,Ki67 showed diffuse positivity in basal cells and scattered positivity on the surface.In all 35 cases TSA,p53 showed weak positive nuclear positivity(1%to 60%),and PTEN and MLH1 were retained.In the 12 cases of TSA with HGIN and 3 cases of TSA-CRC,Ki67 showed diffusely positive,CK20 was strongly positive diffusely,and MLH1 was retained.In 9 cases of TSA with HGIN,p53 was diffusely strongly positive,and in 12 cases,PTEN was lost.All 3 cases of TSA-CRC showed dif-fuse strong nuclear p53 positivity.The molecular detection showed there were BRAF V600E gene mutation in 8 cases.There were 6 cases with KRAS G12V mutation as well as 1 case with KRAS G13D mutation among the 7 cases of KRAS mutation.The primary surgical approach(111 cases,53.6%)was endoscopic mucosal resection(EMR).Conclu-sion TSA exhibits characteristic histological and endoscopic features.Lesions with a maximum diameter>10 mum are more likely to progress to HGIN or adenocarcinoma.It is crucial to enhance the awareness of pathologists and clini-cians,particularly regarding TSA with atypical hyperplasia or invasive carcinoma,to avoid misdiagnosis and missed di-agnoses.
6.Characteristics of crystalline lens tilt and decentration distribution and related factors in patients with age-related cataract
Yifen WU ; Ying ZHANG ; Yong WANG
Chinese Journal of Experimental Ophthalmology 2025;43(3):233-240
Objective:To investigate the characteristics of crystalline lens tilt and decentration distribution in age-related cataract patients and analyze the related factors.Methods:A cross-sectional study was conducted.A total of 585 consecutive patients (1 170 eyes) with bilateral age-related cataracts over the age of 50 were enrolled at Aier Eye Hospital of Wuhan University from January 2022 to March 2022.Bilateral crystalline lens tilt and decentration magnitude and direction were measured by swept-source anterior segment optical coherence tomography.Corneal curvature, white-to-white corneal diameter, anterior chamber depth, lens thickness and axial length were measured using a swept-source optical coherence tomography biometer.The correlation of tilt magnitude and decentration magnitude of crystalline lens was assessed by Pearson linear correlation analysis.The correlation of tilt direction and decentration direction of crystalline lens was assessed by Spearman rank correlation analysis.The influence of age and ocular biometric parameters on crystalline lens tilt and decentration was analyzed by multiple linear regression analysis.This study adhered to the Declaration of Helsinki and was approved by the Ethics Committee of Aier Eye Hospital of Wuhan University (No.2022IRBKY0617).All patients signed the informed consent form before any medical examination.Results:The mean tilt magnitude was (4.69±1.59)°, of which 6.7% had a tillt ≥7°, and the direction was mainly toward the inferotemporal side with a mirror symmetry between both eyes.The mean decentration magnitude was (0.19±0.11)mm, of which 5.3% had a decentration ≥0.4 mm, and the direction was mainly towards the temporal side.The crystalline lens tilt magnitude was positively correlated with decentration magnitude ( r=0.422, P<0.001) and the crystalline lens tilt direction was positively correlated with decentration direction ( rs=0.432, P<0.001).There was no significant difference in crystalline lens tilt magnitude between both eyes ( t=0.487, P=0.626), and the crystalline lens decentration was significantly greater in the right eye than in the left eye, with statistically significant difference ( t=2.563, P=0.011).There was no significant difference in crystalline lens tilt and decentration between male and female ( t=1.500, 1.566; both P>0.05).The crystalline lens tilt magnitude was significantly greater in 60-69 years, 70-79 years and 80-89 years groups than in 50-59 years group, and the crystalline lens decentration magnitude was significantly greater in the 80-89 years group than in the 60-69 years group (all P<0.05).The crystalline lens tilt magnitude was smaller in the axial length ≥25 mm group than in the <22 mm group and the 22-<25 mm group, and the differences were statistically significant (both P<0.001).There was no significant difference in crystalline lens decentration magnitude among different axial length groups ( F=1.433, P=0.239).The multiple linear regression analysis revealed that the effects of anterior chamber depth ( B=-0.474, t=-2.115, P=0.035), axial length ( B=-0.258, t=-9.324, P<0.001) and crystalline lens decentration ( B=5.646, t=11.234, P<0.001) on crystalline lens tilt were statistically significant.The influence of lens thickness ( B=-0.032, t=-2.402, P=0.017), axial length ( B=0.010, t=4.406, P<0.001) and crystalline lens tilt ( B=0.032, t=11.234, P<0.001) on crystalline lens decentration were statistically significant. Conclusions:Among age-related cataract patients aged 50 and above, 6.7% have crystalline lens tilt ≥7°, and 5.3% have crystalline lens decentration ≥0.4 mm.The older the age, the greater the crystalline lens tilt and decentration.The shorter the axial length and the shallower the anterior chamber, the greater the tilt of the lens.The greater the tilt magnitude and decentration, the greater the decentration magnitude and decentration.
7.Clinicopathological analysis of 200 cases of traditional serrated adenoma
Li LI ; Hui LI ; Jie CHEN ; Mei HAN ; Xiuqing LI ; Fei KE ; Yifen ZHANG
Chinese Journal of Clinical and Experimental Pathology 2025;41(3):345-351
Purpose To investigate the clinicopathological features of traditional serrated adenoma(TSA).Methods A retrospective analysis was conducted on the clinical data,endoscopic,and pathological features of 200 TSA patients.HE staining and immunohistochemical staining were performed.The clinical pathological features were statistically analyzed using x2 test,and relevant literature was reviewed.Results There were 114 males(57.0%)and 86 females(43.0%),with ages ranging from 27 to 92 years(mean age 56.2 years).Among the patients,147(73.5%)were aged ≥ 50 years,and 53(26.5%)were aged<50 years.Of the 207 TSA lesions,143(69.1%)were located in the distal colon and rectum,while 57(27.5%)were in the proximal colon and rectum.Endoscopic features included 72 lesions(34.8%)with a perpendiculated appearance,48 lesions(23.2%)with a flat appear-ance,and some exhibiting a pinecone-like appearance.The maximum diameter of the lesions was ≤ 10 mm in 136 ca-ses(65.7%),and>10 mm in 71 cases(34.3%).The typical histopathological features of TSA included serrated contours,eosinophilic cytoplasm,pencil-like nuclei,and ectopic crypt foci.The most common pathological type was the classic TSA(152 lesions,73.4%),followed by the mucin-rich TSA(39 lesions,18.8%).12 cases(5.8%)of TSA exhibited high-grade intraepithelial neoplasia(HGIN)and 3 case(1.5%)of TSA progressed to carcinoma,con-sistent with TSA-originated colorectal cancer(TSA-CRC).Immunophenotype:in 34 cases TSA,Ki67 showed diffuse positivity in basal cells and scattered positivity on the surface.In all 35 cases TSA,p53 showed weak positive nuclear positivity(1%to 60%),and PTEN and MLH1 were retained.In the 12 cases of TSA with HGIN and 3 cases of TSA-CRC,Ki67 showed diffusely positive,CK20 was strongly positive diffusely,and MLH1 was retained.In 9 cases of TSA with HGIN,p53 was diffusely strongly positive,and in 12 cases,PTEN was lost.All 3 cases of TSA-CRC showed dif-fuse strong nuclear p53 positivity.The molecular detection showed there were BRAF V600E gene mutation in 8 cases.There were 6 cases with KRAS G12V mutation as well as 1 case with KRAS G13D mutation among the 7 cases of KRAS mutation.The primary surgical approach(111 cases,53.6%)was endoscopic mucosal resection(EMR).Conclu-sion TSA exhibits characteristic histological and endoscopic features.Lesions with a maximum diameter>10 mum are more likely to progress to HGIN or adenocarcinoma.It is crucial to enhance the awareness of pathologists and clini-cians,particularly regarding TSA with atypical hyperplasia or invasive carcinoma,to avoid misdiagnosis and missed di-agnoses.
8.Minor children parenting concerns in young and middle-aged breast cancer patients:a study on influencing factors based on random forest model
Yifen SONG ; Xianglian SUN ; Chen LIU ; Jinlei ZHANG ; Xiaoxiao YIN ; Yaqing ZHANG ; Weihui JIA ; Chonggao YIN
Modern Clinical Nursing 2025;24(2):1-9
Objective To explore the current status of minor children parenting concerns among young and middle-aged breast cancer patients and investigate the influencing factors based on a random forest model so as to provide references for clinical interventions.Methods A convenience sampling method was used to select breast cancer patients undergoing treatment in our hospital between April and December 2023.A self-designed general information questionnaire,the Chinese version of parenting concerns questionnaire(PCQ),perceived social support scale(PSSS),concern about recurrence scale(CARS),and the brief illness perception questionnaire(BIPQ)were used for the study.A random forest model and the least absolute shrinkage and selection operator(LASSO)were employed to prioritise variables and filtered by significance.The selected variables were then incorporated into the multiple linear regression analysis.Results A total of 260 patients completed the study.The score of minor children parenting concerns of young and middle-aged breast cancer patients was 51.1±6.4.The multiple linear regression analysis,which included variables determined by random forest and LASSO regression(and sorted by the importance of influencing factors),showed that higher disease perception,lower perceived social support,greater concern about cancer recurrence,stage IV tumors,being divorced/widowed,and having more minor children were associated with higher parenting concerns among young and middle-aged breast cancer patients(all P<0.05),accounting for 57.0%of the total variance.Conclusion The minor children parenting concerns in young and middle-aged breast cancer patients are at a moderately high level and are influenced by a variety of factors.Healthcare professionals should develop targeted measures and interventions to reduce the parenting concerns among the patients.
9.Clinicopathological analysis of 12 cases of CD23-positive diffuse large B-cell lym-phoma
Susu ZHAO ; Fei KE ; Hui YU ; Xiaoli CHEN ; Yaohui WANG ; Shuangshuang WANG ; Yifen ZHANG
Chinese Journal of Clinical and Experimental Pathology 2025;41(8):1011-1016
Purpose To investigate the clinicopathological features and possible tumor-associated immune micro-environment in CD23-positive diffuse large B-cell lymphoma(DLBCL).Methods The clinicopathological data of 12 cases of CD23-positive DLBCL patients were analyzed retrospectively.The clinical and pathological features were ana-lyzed,and the clinical correlation and tumor-associated immune invasion were studied.Results CD23-positive DL-BCL accounted for 9.45%of all DLBCL.There were 6 males and 6 females.The mean age of onset was 64.83 years old.Four DLBCL cases occurred in lymph nodes and 8 cases occurred outside lymph nodes.Nine DLBCL cases were in advanced stage(Ⅲ-Ⅳ)and 3 cases DLBCL were in early stage(Ⅰ-Ⅱ).Among the patients,3 cases were untreated and lost to follow-up.One case deteriorated and died after operation.Two cases died,1 case progressed and 5 cases partially recovered after chemotherapy.Microscopically,the tumor cells were diffusely infiltrated and destroyed the nor-mal tissue structure.The tumor cells were observed to be centroblastic,immunoblastic and anaplastic large cells.No blastoid transformation and plasmacytoid differentiation were observed in morphology.According to Hans algorithm,11 cases were non-GCB phenotype except 1 case was GCB phenotype.Bioinformatics studies revealed that CD23 expres-sion was correlated with regulatory T cells,NK cells,plasma-like dendritic cells and neutrophils.Conclusion CD23-positive DLBCL patients are mainly middle-aged and elderly,and most of them occur outside lymph nodes and in ad-vanced stage(Ⅲ-Ⅳ).Follow-up results show that their prognosis is poor.Morphologically,there is no significant difference between DLBCL and conventional DLBCL.The Hans classification suggests that most cases originated from activated B cells.CD23 expression may play a role in the immune microenvironment of DLBCL.
10.SMARCB1-deficient renal medullary carcinoma without sickle cell trait: clinicopathological and molecular characteristics
Huizhi ZHANG ; Jun HOU ; Xiaoqun YANG ; Qiuyuan XIA ; Suying WANG ; Yifen ZHANG ; Hong CHEN ; Xiaohui DING ; Heli WANG ; Ming ZHAO
Chinese Journal of Pathology 2025;54(8):838-844
Objective:To investigate the clinicopathological features including immunophenotype, molecular characteristics, differential diagnosis and prognosis of SMARCB1-deficient renal medullary carcinoma (RMC) without sickle cell trait.Methods:The clinicopathological data of 12 cases of SMARCB1-deficient RMC without sickle cell trait were collected from 7 domestic institutions during the period of 2015 to 2024. Their clinical characteristics, morphological features and immunohistochemical properties were observed and analyzed. High-throughput DNA-targeted next-generation sequencing was performed, and follow-up data were gathered along with relevant literature review.Results:Among the 12 patients, 5 were female and 7 were male. The patients age ranged from 27 to 84 years with a median age of 58.5 (46.0, 71.0) years. None of them had sickle cell disease or other hemoglobinopathies. Eight cases occurred in the left kidney and 4 cases were located in the right kidney. The average maximum diameter of the tumor was 6.1 (4.0,7.5) cm, with a range of 2.0 to 14.9 cm (the median maximum diameter 5.5 cm). Histologically, the tumors showed poorly differentiated adenocarcinoma, arranged in solid and tubular patterns. Papillary structure was noted in 5 cases, cribriform structure in 3 cases, rhabdoid differentiation in 3 cases, and sarcomatoid differentiation in 2 cases. Inflammatory desmoplastic stromal reaction was observed in 8 cases, among which stromal myxoid degeneration was seen in 6 cases. Tumor necrosis was apparent in 6 cases. The tumor cells had abundant eosinophilic or clear cytoplasm and prominent nucleoli. The nuclear grading was grade 3 or 4 according to the International Society of Urological Pathology (ISUP). Immunohistochemical staining showed that the tumor cells of all 12 cases expressed PAX8 and loss of SMARCB1/INI1 protein expression, and 5 of 10 cases expressed OCT3/4. Seven samples had valid archived paraffin tissues for high-throughput DNA-targeted next-generation sequencing. The results showed that all 7 cases had pathogenic mutations in the SMARCB1 gene. The mutation sites included exon5 c.595A>T (p.K199*), exon2 c.200_207del (p.S67*), exon2 p.G69VfsTer16, exon7 c.986G>T (p.S329I), exon7 c.886A>T (p.K296*), exon6 c.635T>A (p.L212*), exon5 c.577del (p.M193Wfs16), and exon6 c.784del (p.V262Sfs5). Follow-up data were obtained for 6 of 12 patients. Among them, 1 patient had lung and bone metastases, 1 patient had liver and bone metastases and 1 patient had multiple bone metastases at the time of diagnosis; 1 patient had bone metastases 5 months after surgery. One patient died of postoperative complications 10 days after surgery, 4 patients died of tumors (the survival time ranged from 4 to 8 months), and 1 patient had no recurrence or metastasis during the 8-month follow-up after surgery.Conclusions:SMARCB1-deficient RMC without sickle cell trait is a highly aggressive and poorly differentiated renal cell carcinoma. It has similar histomorphology, immunophenotype, molecular characteristics and prognosis to RMC, which further supports that it is a sporadic subtype of RMC related to sickle cell trait.

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