Rhabdomyosarcoma (RMS) is the most common soft tissue malignancy in children and adolescents. The rarity of its occurrence in infant poses a great difficulty in terms of diagnosis and management. Here, we report an aggressive case of alveolar rhabdomyosarcoma in an infant who presented with neck swelling and neurological complications. The Magnetic Resonance Imaging (MRI) revealed a soft tissue swelling of the neck with intraspinal extension and spinal cord compression, raising the possibility of a neurogenic or malignant nerve sheath tumour. Histopathological examination revealed a primitive, small round cell tumour with no rhabdoid differentiation. The clinical presentation, neurological symptoms, tumor location and the histopathologic features were highly suggestive of neuroblastoma. However, the tumour cells were positive for desmin with focal and weak nuclear positivity for myogenin and MyoD1; immunoexpressions which were in favour of rhabdomyosarcoma. Fluorescent in situ hybridization (FISH) confirmed the presence of a translocation t(2;13)(q35;q14), supporting the diagnosis of alveolar rhabdomyosarcoma. Despite chemotherapy, patient succumbed to death after two months due to septic shock. Rhabdomyosarcoma is highly aggressive mesenchymal neoplasm which may present with diagnostic difficulty. This case highlights the importance of molecular studies in making an accurate diagnosis so that appropriate chemotherapy may be instituted.

Chronic myeloid leukemia (CML) patients who have BCR-ABL T315I mutation, usually present in the advance phase of the disease with overall survival (OS) shorter than those without the mutation. This study aimed to determine the prevalence of T315I mutation amongst imatinib mesylate (IM) resistant CML patients and to compare the OS between T315I-mutated and non-T315I-mutated patients. Sixty consecutive CML patients who were treated with IM for at least 18 months and their treatment responses, were recorded. The mutation analysis was done using allele-specific oligonucleotide reverse transcriptase-polymerase chain reaction (RT-PCR) assay followed by direct sequencing technique. Forty-two patients (70%) were found to have IM-resistance. Five out of 42 patients had detectable T315I mutation. Median OS of IM-resistant T315I-mutated patients was 96 months (95% CI:54-138) compared to 84 months (95% CI:48-120) in non T315I-mutated patients, although this was found to be statistically insignificant (p = 0.43). The present study showed a higher prevalence of T315I mutation as compared to a few local studies. Median OS of T315I-mutated patients were observed to be longer than non-T315-mutated patients. Further studies encompassing larger cohort of patients are required to confirm this finding

Objective: We aimed to investigate the clinicopathological features of desmoplastic small round cell tumor (DSRCT). Methods: We conducted a retrospective analysis of the clinical characteristics of 7 DSRCT specimens collected from January 2012 to November 2019 in Beijing Shijitan Hospital, Capital Medical University. Pathological slides were further studied. Immunohistochemistry and fluorescence in situ hybridization (FISH) were carried out to study the pathological characteristics. Results: The patients were all male with the median age of 29 years. All tumors were located in the abdominal cavity. The clinical symptoms were abdominal distension, abdominal pain, altered bowel habits, and dysuria. Gross pathology showed multiple grey nodules scattered on the omentum and mesentery. Histopathology showed well-defined nests of small round blue tumor cells separated by abundant desmoplastic stroma. Immunohistochemistry showed distinctive expression of paranuclear dot-like pattern of Desmin and Vimentin; expression of EWSR1-WT1 fusion gene was detected by FISH. At the median follow-up period of 15 months, six patients were alive. Conclusions: DSRCT is highly malignant, with distinctive pathological features of paranuclear dot-like expression of Desmin and Vimentin by immunohistochemistry, and the expression of EWSR1-WT1 fusion gene. Keywords: desmoplastic small round cell tumor, clinical pathology, immunohistochemistry, fluorescence in situ hybridization

OBJECTIVE: To explore the mechanism of Schisandra lignans for inducing the apoptosis of human glioma SHG-44 neurospheres. METHODS: The effects of Schisandra lignans on the SHG-44 neurospheres proliferation were detected by MTT. The apoptotic rate was analyzed by Annexin-V/PI double staining. The secretion of the bax, bcl-2 and caspase 3 protein was detected by Elisa assay. The expression of bcl-2 protein was examined by Western blot. RESULTS: Schisandra lignans could inhibit the proliferation of SHG-44 neurospheres with the concentration of 50,100,200 mg · L-1 in a dose-dependent manner. Schisandra lignans could induce the apoptosis of SHG-44 neurospheres in a dose-dependent manner. The secretion of bcl-2 was decreased, but ratio of bax/bcl-2 was increased, caspase 3 was increased, the expression of bcl-2 protein was down-regulated. CONCLUSION: Schisandra lignans could induce the apoptosis of human glioma SHG-44 neurospheres. Its mechanism is correlated with down-regulation of the expression of bcl-2 and up-regulation of the ratio of bax/bcl-2, and then activated caspase 3.

Multinolular and intrahepatic recurrent HCC can originate from intrahepatic metastasis and multiple origins, and their colnal origin is closely related to the clinical diagnosis and treatment. To designate suitable therapeutic strategies according to their colnal origin is a new challenge needs to be tackled urgently. This paper reviews recent progress in the clinicopathological features, molecular diagnosis and clinical outcomes of multiple origin HCC.

Objective: To prepare a pig model of obstructive sleep apnea-hypopnea syndrome (OSAHS) and to observe the hemodynamics and pathological characteristics of common carotid artery, so as to lay a foundation for further studying the effect of OSAHS on cardiovascular system. Methods: Twelve male small-type pigs were randomly divided into model group and control group (n = 6). Animals in the model group were housed in a negative pressure chamber for 6 months to establish OSAHS model and those in the normal control group were fed routinely. After pigs in the model group presented the symptoms of OSAHS, the changes in hemodynamics of carotid artery were detected with color Doppler ultrasound. The morphological changes of common carotid artery were analyzed under light microscope and electron microscope. Results: Animal model of OSAHS was successfully created. The internal diameter of carotid artery of pigs in the model group was decreased, the intima was increased, and the peak-systolic mean velocity (S) and the resistance index (RD were both increased compared with those of the control group (P

Objective: To investigate the immunohistochemical characterization of hepatic stem cells in the developing human liver, so as to study the origin, differentiation and migration of hepatic stem cells. Methods: H-E staining and immunohistochemical methods were used to observe the expression of hepatic/cholangiocellular differentiation markers (AFP, GST-π, CK7, CK19) and hematopoietic stem cell markers (CD34 and c-kit) in several kinds of cells obtained from thirty 4- to 35-week old fetal liver samples. Results: AFP expression appeared in fetal liver at 4 weeks' gestation, peaked during 16-24 weeks' gestation and decreased gradually afterwards; finally weak signals were only found in some ductal plate cells and a few limiting plate cells. GST-π was detected in hepatic cord cells from the 6th week and in the ductal plate cells from the 8th week; 26 weeks later, only some ductal plate cells and a few limiting plate cells showed positive signals. CK19 expression peaked during 6th to 11th week in hepatic cord cells and decreased gradually afterwards, except for that in the ductal plates. CK7 expression was limited in the ductal plate cells and bile duct cells from the 14th week. CD34 and c-kit were detected at the 8th week in some ductal plate cells and a few mononuclear cells in the hepatic cords/mesenchymal tissue of portal area; after 21 weeks, CD34 and c-kit were found only in ductal plate cells and a few mononuclear cells in the hepatic mesenchymal tissue of portal areas. Conclusion: Fetal hepatocytes at 4-16 weeks' gestation are mainly constituted by hepatic stem cells with bi-potential differentiation capacity. At 16 weeks' gestation, most hepatic cord cells begin to differentiate into hepatocytes and abundant hepatic stem cells remain in the ductal plate (the origin site of Hering canals). It is also indicated that the hematopoietic stem cells may give rise to some hepatic stem cells in embryonic liver. These indirectly support the hypothesis about the location and origin of liver stem cells in "liver valley hypothesis" reported previously.

Objective: To construct subtractive cDNA library from human hepatocellular carcinoma cells transactivated by C-terminally truncated 40 amino acids using suppression subtractive hybridization (SSH) technique and to clone the associated genes. Methods: Huh-7 cells were separately transfected with pcDNA3(-) harboring the sequence of HBx protein C-terminally truncated 40 amino acids and pcDNA3(-) harboring the full length sequence of HBx protein vectors. The total RNAs were isolated from the transfected Huh-7 cells and were reversely transcripted into double strand cDNAs. After the cDNAs were digested with restriction enzyme Rsa I, they were divided into 2 groups and were ligated to the special adaptor 1 and adaptor 2R, respectively. The tester cDNAs were then hybridized with driver cDNAs twice and the products were amplified twice by nested PCR technique. The PCR products were connected with pUCm-T plasmid vectors to establish the subtractive library. Amplification of the library was carried out with E. coli strain JM109. The inserts of cDNAs were sequenced and analyzed in GenBank with Blast search. Results: The subtractive cDNA library was successfully constructed. The amplified library contained 154 positive clones, and colony PCR showed that these clones contained 200-800 bp inserts; some fragments coded proteins involved proto-oncogenes, cell signaling genes, cell growth factor genes, cell apoptosis genes, metabolism and protein synthesis genes. Conclusion: Subtractive cDNA library has been successfully constructed by SSH technique, which may help to clone novel genes transactivated by HBx C-terminally truncated 40 amino acids and to explore the molecular mechanism of hepatoma pathogenesis.

Objective To investigate the expression of markers for epithelial-mesenchymal transition (EMT) during the development of ductal plate in human liver, so as to discuss the role of EMT during ductal plate development in the liver. Methods Immunohistochemical method was used to examine the expression of EMT markers (CK19, vimentin, and ccSMA) in the liver tissues of 31 fetuses of 8-40 weeks old. Results From the 8th gestation week onwards (ductal plate phase, remodeling phase of ductal plate, and formation phase of bile ducts), the CK19-positive cells in the portal tract were gradually increased, vimentin/ ccSMA-positive portal mesenchymal cells were gradually decreased, and CK19-positive cells were negatively correlated with vimentin/ ccSMA expression ones (vimentin: r=- 0. 820, P

Objective To analyze the relationship of CAS protein expression with proliferative index, apoptosis index and clinical parameters in breast cancer tissues. Methods Immunohistochemistry for CAS expression, ki-67 (proliferative index) and TUNEL (apoptosis index) were examined in 20 usual ductal hyperplasia (UDH), 20 atypical ductal hyperplasia (ADH), 10 ductal carcinoma in situ (DCIS), 53 invasive ductal carcinoma(IDC) and 14 normal breast tissues. Results CAS expression increased in order in the normal breast tissues, UDH, ADH, DCIS and IDC, with the positive rates of CAS protein being 14.3% (2/14), 25.0% (0/20), 40.0% (8/20), 60.0% (6/10), and 75. 5% (40/53), respectively {χ2 = 29. 382, P = 0. 000). CAS protein expression was correlated with histological grade, mitotic activity, and lymph node metastasis of IDC (P<0. 01, P<0. 05), and not with patient age, tumor volume or grade. CAS protein expression was positively correlated with ki-67 index (r = 0. 439, P = 0. 003), and not with the apoptosis index (r=0. 248, P = 0. 083). Conclusion CAS protein expression is associated with cell proliferation index in breast cancer tissues.