Purpose To investigate the clinicopathological features and cytogenetic characteristics in the fumarate hydratase(FH)-deficient uterine smooth muscle tumors.Methods A total of 334 paraffin-embedded specimen of be-nign,borderline,and malignant uterine smooth muscle tumors were collected.FH-deficient uterine smooth muscle tumors were screened using the immunohistochemical detection with FH and S-(2-succino)-cysteine(2SC)antibodies.A retrospective analysis of the clinicopathological features and FH mutations was conducted.Results Compared with the 310 non-FH-deficient uterine leiomyomas(non-FH-dUL),14 cases(93.3％)out of the 15 FH-dUL presented with staghorn blood vessels(x2=52.86,P＜0.000 1),8 cases(53.3％)exhibited pulmonary edema-like stroma(x2=26.41,P＜0.000 1),8 cases(53.3％)had cytoplasmic eosinophilic globules(x2=41.85,P＜0.000 1),5 cases(33.3％)showed multifocal bizarre nuclei(x2=72.54,P＜0.000 1),5 cases(33.3％)had large eosino-philic nucleoli with viral inclusion-like halos(x2=38.85,P＜0.000 1),and 5 cases(33.3％)demonstrated a sig-nificant increase in cell density(x2=8.782,P=0.003).The above morphological features were also observed in a case of FH-d uSTUMP and FH-d uLMS.Among the 14 cases with follow-up,except for one death in the FH-d uLMS,none reported the renal cell carcinoma and cutaneous leiomyoma.FH mutations were identified in 11 cases and the hotspot mutations were found in exon 1,2,4,5,6 and 7.Among these variations,c.125C＞T,c.151C＞T and c.704A＞C were found to be the hotspot gene variations.Furthemore,7 gene variations(c.197A＞G,c.426G＞T,c.505C＞T,c.704A＞C,c.812A＞C,c.847T＞C,c.1006A＞G)were not included in COSMIC and ClinVar database and were supposed to be novel.Conclusion The combination of FH/2SC immunohistochemical detection and FH exon mutation analysis are reliable tools for the early identification of FH-deficient uterine smooth muscle tumors or hereditary leiomyomatosis and renal cell carcinoma(HLRCC)syndrome.

Purpose To investigate the clinicopathological features and cytogenetic characteristics in the fumarate hydratase(FH)-deficient uterine smooth muscle tumors.Methods A total of 334 paraffin-embedded specimen of be-nign,borderline,and malignant uterine smooth muscle tumors were collected.FH-deficient uterine smooth muscle tumors were screened using the immunohistochemical detection with FH and S-(2-succino)-cysteine(2SC)antibodies.A retrospective analysis of the clinicopathological features and FH mutations was conducted.Results Compared with the 310 non-FH-deficient uterine leiomyomas(non-FH-dUL),14 cases(93.3％)out of the 15 FH-dUL presented with staghorn blood vessels(x2=52.86,P＜0.000 1),8 cases(53.3％)exhibited pulmonary edema-like stroma(x2=26.41,P＜0.000 1),8 cases(53.3％)had cytoplasmic eosinophilic globules(x2=41.85,P＜0.000 1),5 cases(33.3％)showed multifocal bizarre nuclei(x2=72.54,P＜0.000 1),5 cases(33.3％)had large eosino-philic nucleoli with viral inclusion-like halos(x2=38.85,P＜0.000 1),and 5 cases(33.3％)demonstrated a sig-nificant increase in cell density(x2=8.782,P=0.003).The above morphological features were also observed in a case of FH-d uSTUMP and FH-d uLMS.Among the 14 cases with follow-up,except for one death in the FH-d uLMS,none reported the renal cell carcinoma and cutaneous leiomyoma.FH mutations were identified in 11 cases and the hotspot mutations were found in exon 1,2,4,5,6 and 7.Among these variations,c.125C＞T,c.151C＞T and c.704A＞C were found to be the hotspot gene variations.Furthemore,7 gene variations(c.197A＞G,c.426G＞T,c.505C＞T,c.704A＞C,c.812A＞C,c.847T＞C,c.1006A＞G)were not included in COSMIC and ClinVar database and were supposed to be novel.Conclusion The combination of FH/2SC immunohistochemical detection and FH exon mutation analysis are reliable tools for the early identification of FH-deficient uterine smooth muscle tumors or hereditary leiomyomatosis and renal cell carcinoma(HLRCC)syndrome.

Objective: To understand physical fitness and physiological function level of children and adolescents with different nutritional status in Beijing Tianjin Hebei Region, and to provide reference for physical health promotion and intervention of children and adolescents. Methods: From September to December 2019, 4 424 children and adolescents aged 7-18 years old in Beijing Tianjin Hebei Region were tested for different nutritional status, physical fitness and physiological function by using stratified cluster sampling method. Results: The detection rates of malnutrition, normal, overweight and obesity were 7.93%, 67.36% and 24.71%, respectively.There were differences in heart rate, systolic blood pressure, diastolic blood pressure, vital capacity body mass index, grip strength body mass index, oblique pull up/pull up, standing long jump, 50 m running, 1 000 m running, and BMI in boys with different nutritional status statistical significance ( Z =9.6, 55.2, 118.6, 332.5, 122.8, 15.6, 49.5, 47.5, 12.6, 113.5, P <0.01); There were differences in heart rate, systolic blood pressure, diastolic blood pressure, vital capacity body mass index, grip strength body mass index, sit up for 1 minute, standing long jump, 50 m running, 800 m running and physical fitness index in girls with different nutritional status statistical significance ( Z =33.9, 24.5, 46.5, 262.5, 102.6, 32.5, 27.5, 33.6, 27.6, 51.6, P <0.01). Correlation analysis showed that the nutritional status of boys was positively correlated with systolic blood pressure, diastolic blood pressure, 50 m running, and 1 000 m running ( r =0.27, 0.31, 0.14, 0.16, P <0.05), and was correlated with heart rate, vital capacity, body mass index, grip strength body mass index, oblique pull up/pull up, standing long jump, and BMI were negatively correlated ( r =-0.07, -0.62, -0.41, -0.21, -0.35, -0.29, P ＜0.05); nutritional status of girls it was positively correlated with systolic blood pressure, diastolic blood pressure, and 800 m running ( r =0.21, 0.27, 0.22, P <0.05), and negatively correlated with heart rate, vital capacity BMI, grip strength BMI, and BMI ( r =-0.12, -0.49, -0.32, -0.18, P <0.05). Conclusion The nutritional status of children and adolescents in Beijing Tianjin Hebei Region is related to physical fitness and physiological function. Overweight and obese child have lower physical fitness and physiological function. In the future, childhood overweight and obesity should be effectively controlled to better promote the development of physical fitness and physiological function.