OBJECTIVETo investigate clinical phenotype and genetic characteristics of a 30-year-old infertile female carrying a mosaic ring 21 chromosome.

METHODSA combination of techniques including G-banding, C-banding, fluorescence in situ hybridization (FISH) and SNP array were performed to investigate the breaking point of the r(21).

RESULTSThe karyotype of the patient was mos 46,XX,r(21)[166]/46, XX,der(21)[60]/45, XX, -21[20]/46, XX,dic r(21)[4].ish del(21)(q22.2?)(21qter-, AML1+, D21S259/D21S341/D21S342+). arr 21q22.3(43 457 934-48 093 361) × 1, 21q22.2q22.3(40 218 429-43 457 934)× 1-2. The karyotypes of her parents were both normal.

CONCLUSIONClinical phenotypes of patients carrying a ring 21 mainly depends on the percentage of abnormal cells and the deleted chromosomal fragment. The small uterus and oligomenorrhea in our patient may be attributed to the mosaic ring 21 chromosome.

Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 21 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infertility, Female ; diagnosis ; genetics ; Karyotyping ; Ring Chromosomes

OBJECTIVE: To analyze the clinical and genetic characteristics of a 46,XX case of testicular disease with prostate germ cell tumor and explore its pathogenesis. METHODS: The clinical features and pathological examination of the patient were reviewed, and the genetic basis was analyzed by chromosome karyotyping analysis and fluorescence in situ hybridization. RESULTS: The patient had slightly short stature, small testicles and large breast. Serum alpha fetoprotein was significantly increased, along with increased follicle stimulating hormone, luteinizing hormone and prolactine, and lower level of testosterone. The karyotype was 46,XX. Fluorescence in situ hybridization has identified the presence of SRY gene at the end of short arm of one X chromosome. The pathological diagnosis was primary germ cell tumor of prostate, mainly of yolk sac tumor type. CONCLUSION A rare case of 46,XX testicular disorder of sex development combined with germ cell tumor of the prostate was diagnosed, which has enriched the phenotype spectrum of the disease and provided clues for the treatment of the disease.
Humans ; In Situ Hybridization, Fluorescence ; Male ; Neoplasms, Germ Cell and Embryonal/genetics* ; Prostate ; Sexual Development ; Testicular Diseases

Objective:To investigate the value of CT tumor-thyroid marginal contact range (MCR) for predicting capsular invasion and cervical lymph node metastasis in papillary thyroid carcinoma (PTC) with a diameter>1.0 cm and papillary thyroid microcarcinomas (PTMC) with a diameter ≤ 1.0 cm, and to evaluate the diagnostic efficacy of direct CT signs for lymph node metastasis.Methods:The CT data of 148 patients with PTC (>1.0 cm) and 193 patients with PTMC confirmed by surgery and pathology were retrospectively analyzed from January 2017 to April 2020 at Hangzhou First People′s Hospital. MCR was evaluated based on CT images and classified as<1/4 tumor circumference or ≥1/4 tumor circumference. Direct CT signs of cervical lymph nodes were observed, including cystic change, microcalcification, hyperenhancement, short/long diameter≥0.5, clustered lymph nodes or central area turbidity. The difference in the distribution of MCR between PTC (>1.0 cm) and PTMC was compared using the χ 2 test, and the efficiency of MCR and direct CT signs for diagnosing capsular invasion and lymph node metastasis was calculated using the pathological results as the gold standard. Results:In 148 PTC (>1.0 cm) and 193 PTMC patients, the pathological results showed capsular invasion in 88.5% (131/148) and 57.0% (110/193), and lymph node metastasis in 71.6% (106/148) and 44.0% (85/193), respectively. In PTC (>1.0 cm) patients, MCR≥1/4 tumor circumference was more common in patients with capsular invasion (χ2=22.211, P<0.001) and lymph node metastasis (χ2=4.746, P=0.029), and the corresponding sensitivity and specificity for predicting capsular invasion and lymph node metastasis were 84.7% (111/131) and 64.7% (11/17), 83.0% (88/106) and 33.3% (14/42), respectively. In PTMC patients, MCR≥1/4 tumor circumference was more common in patients with capsular invasion (χ2=66.066, P<0.001) and lymph node metastasis (χ2=5.343, P=0.021), and its sensitivity and specificity for predicting capsular invasion and lymph node metastasis were 87.3% (96/110) and 69.9% (58/83), 71.8% (61/85) and 44.4% (48/108), respectively. The sensitivity and specificity of direct CT signs for diagnosing lymph node metastasis in PTC (>1.0 cm) and PTMC were 89.6% and 73.8%, 69.4% and 76.9%, respectively. Conclusions:Both direct CT signs and MCR ≥ 1/4 tumor circumference can predict cervical lymph node metastasis in PTC patients, and the former had higher sensitivity and specificity. MCR≥1/4 tumor circumference has high efficiency for predicting capsular invasion in PTC patients.

Objective:To investigate the effects and the mechanism of Shendansanjie capsules on angiogenesis of colitis associated cancer(CAC) mice.Methods:Azoxymethane and dextran sulfact sodium were used to construct a mice model with CAC. Ten mice were divided into the normal group, model group, Shendan Sanjie capsule group, MK-2206 group, and Shendan Sanjie capsule + IGF-1 group, respectively. Immunohistochemistry was used to detect the microvessel density (MVD) in the colon tissue of each group of mice. Quantitative reverse transcription polymerase chain reaction (qRT-PCR) was used to detect the mRNA levels of basic fibroblast growth factor (bFGF) and angiopoietin 2 (Ang2) in colon tissue. Western blot was used to detect the expressions of Akt, p-Akt, vascular endothelial growth factor A (VEGFA), hypoxia-inducible factor-1α (HIF-1α).Results:The number of MVD in the colon tissue of mice in the model group, Shendan Sanjie capsule group, MK-2206 group, Shendan Sanjie capsule + IGF-1 group were 63.3±3.3, 36.6±2.3, 36.6±2.2, 50.3±2.5, significantly higher than 2.0±0.1 in the normal group ( P<0.05). The number of MVD in Shendan Sanjie capsule group, MK-2206 group and Shendan Sanjie capsule+ IGF-1 group are lower than that in model group ( P<0.05), while Shendan Sanjie capsule+ IGF-1 group is higher than Shendan Sanjie Capsule group ( P<0.05). The relative expressions of bFGF mRNA in the colon cancer tissue of mice in the model group, Shendan Sanjie capsule group, MK-2206 group and Shendan Sanjie capsule+ IGF-1 group were 4.55±0.31, 2.46±0.37, 2.49±0.33, 3.34±0.21, respectively, and the relative mRNA expressions of Ang2 were 5.78±0.19, 2.21±0.14, 2.26±0.17 and 3.67±0.32, respectively, which were significantly higher than 1.01±0.05 and 0.99±0.07 in the normal group ( P<0.05). The mRNA levels of bFGF and Ang2 in Shendan Sanjie capsule group, MK-2206 group and Shendan Sanjie capsule+ IGF-1 group were lower than those in the model group ( P<0.05), while Shendan Sanjie capsule+ IGF-1 group is higher than Shendan Sanjie capsule group ( P<0.05). The relative expression levels of p-Akt/Akt, VEGFA and HIF-1α in colon cancer tissues of the model group were 4.75±0.18, 4.64±0.22 and 4.84±0.12, respectively, which were significantly higher than 1.01±0.07, 0.95± 0.08 and 0.98±0.05 in the normal group ( P<0.05). The relative expressions of p-Akt/Akt, VEGFA and HIF-1α in colon cancer tissues in the Shendan Sanjie capsule group were 2.24±0.22, 3.15±0.26 and 2.07±0.18, respectively, which were significantly lower than those in the model group ( P<0.05). However, compared with the MK-2206 group, the difference was not statistically significant ( P>0.05). The relative expression levels p-Akt/Akt, VEGFA and HIF-1α in colon cancer tissue of the Shendan Sanjie capsule+ IGF-1 group were 3.37±0.15, 4.02±0.11, 3.52±0.24, respectively, which were significantly higher than those in the Shendan Sanjie capsule group ( P<0.05). Conclusion:Shendan Sanjie capsules may inhibit Akt/HIF-1α/VEGFA signaling pathway, and then reduce the expression of microvascular growth factors bFGF and Ang2, thereby inhibit the tumor angiogenesis of CAC.

Objective:To investigate the effects and the mechanism of Shendansanjie capsules on angiogenesis of colitis associated cancer(CAC) mice.Methods:Azoxymethane and dextran sulfact sodium were used to construct a mice model with CAC. Ten mice were divided into the normal group, model group, Shendan Sanjie capsule group, MK-2206 group, and Shendan Sanjie capsule + IGF-1 group, respectively. Immunohistochemistry was used to detect the microvessel density (MVD) in the colon tissue of each group of mice. Quantitative reverse transcription polymerase chain reaction (qRT-PCR) was used to detect the mRNA levels of basic fibroblast growth factor (bFGF) and angiopoietin 2 (Ang2) in colon tissue. Western blot was used to detect the expressions of Akt, p-Akt, vascular endothelial growth factor A (VEGFA), hypoxia-inducible factor-1α (HIF-1α).Results:The number of MVD in the colon tissue of mice in the model group, Shendan Sanjie capsule group, MK-2206 group, Shendan Sanjie capsule + IGF-1 group were 63.3±3.3, 36.6±2.3, 36.6±2.2, 50.3±2.5, significantly higher than 2.0±0.1 in the normal group ( P<0.05). The number of MVD in Shendan Sanjie capsule group, MK-2206 group and Shendan Sanjie capsule+ IGF-1 group are lower than that in model group ( P<0.05), while Shendan Sanjie capsule+ IGF-1 group is higher than Shendan Sanjie Capsule group ( P<0.05). The relative expressions of bFGF mRNA in the colon cancer tissue of mice in the model group, Shendan Sanjie capsule group, MK-2206 group and Shendan Sanjie capsule+ IGF-1 group were 4.55±0.31, 2.46±0.37, 2.49±0.33, 3.34±0.21, respectively, and the relative mRNA expressions of Ang2 were 5.78±0.19, 2.21±0.14, 2.26±0.17 and 3.67±0.32, respectively, which were significantly higher than 1.01±0.05 and 0.99±0.07 in the normal group ( P<0.05). The mRNA levels of bFGF and Ang2 in Shendan Sanjie capsule group, MK-2206 group and Shendan Sanjie capsule+ IGF-1 group were lower than those in the model group ( P<0.05), while Shendan Sanjie capsule+ IGF-1 group is higher than Shendan Sanjie capsule group ( P<0.05). The relative expression levels of p-Akt/Akt, VEGFA and HIF-1α in colon cancer tissues of the model group were 4.75±0.18, 4.64±0.22 and 4.84±0.12, respectively, which were significantly higher than 1.01±0.07, 0.95± 0.08 and 0.98±0.05 in the normal group ( P<0.05). The relative expressions of p-Akt/Akt, VEGFA and HIF-1α in colon cancer tissues in the Shendan Sanjie capsule group were 2.24±0.22, 3.15±0.26 and 2.07±0.18, respectively, which were significantly lower than those in the model group ( P<0.05). However, compared with the MK-2206 group, the difference was not statistically significant ( P>0.05). The relative expression levels p-Akt/Akt, VEGFA and HIF-1α in colon cancer tissue of the Shendan Sanjie capsule+ IGF-1 group were 3.37±0.15, 4.02±0.11, 3.52±0.24, respectively, which were significantly higher than those in the Shendan Sanjie capsule group ( P<0.05). Conclusion:Shendan Sanjie capsules may inhibit Akt/HIF-1α/VEGFA signaling pathway, and then reduce the expression of microvascular growth factors bFGF and Ang2, thereby inhibit the tumor angiogenesis of CAC.