Clinicopathological features of rhabdomyosarcoma with novel FET::TFCP2 and TIMP3::ALK fusion: report of two cases and literature review.

AIMS: The aim of this study was to evaluate the clinicopathological features, immunophenotype, differential diagnosis, molecular genetic features and prognosis of spindle cell rhabdomyosarcoma with TFCP2 rearrangement. METHODS: Two cases of spindle cell rhabdomyosarcoma with FET::TFCP2 gene fusion were included in this study. Samples were collected and evaluated through histological observation, immunohistochemistry, fluorescence in-situ hybridisation and high-throughput gene sequencing and previous findings. RESULTS: The tumour tissues mainly comprised spindle cells and epithelioid cells, which expressed striated muscle markers, and exhibited high expression levels of CK and ALK protein markers. Molecular detection showed that the FET::TFCP2 gene was fused. A rare case with TIMP3::ALK and FUS::TFCP2 double-fusion was observed in this study. CONCLUSIONS: A case with double fusion of ALK and TFCP2 was reported in rhabdomyosarcoma for the first time in this study, which provides information on the molecular characteristic of the tumour. Spindle cell rhabdomyosarcoma with FET::TFCP2 fusion is characterised by histological, immunohistochemical and genetic changes. The tumour is aggressive, with poor prognosis and poor response to radiotherapy and chemotherapy. The efficacy of targeted therapy for ALK should be explored through more clinical studies.

Distinct clinicopathological and genomic features in solid and basaloid adenoid cystic carcinoma of the breast.

Adenoid cystic carcinoma (AdCC) of the breast is a rare indolent carcinoma of salivary gland-type tumors, frequently associated with MYB genetic alteration. Solid and basaloid adenoid cystic carcinoma (SB-AdCC) is considered a sparse variant of AdCC. This study sought to search for clinicopathological and genomic features in SB-AdCC. Registered clinicopathological data on a cohort of 13 AdCC of the breast cases, including six conventional adenoid cystic carcinoma (C-AdCC) cases and seven SB-AdCC cases, were collected. MYB gene rearrangement via fluorescent in situ hybridization was investigated and MYB protein expression was evaluated by immunohistochemistry. Compared with C-AdCC, we found that the distribution of SB-AdCC cases were shifted to older age and were more frequently distant metastasis. Moreover, metastasis cases also showed a high (exceed 30%) Ki-67 index. Both groups showed MYB rearrangements and MYB protein expression, but they were less frequent in SB-AdCC than C-AdCC. To conclude, our results suggest that SB-AdCC is an aggressive variant of mammary AdCC with a higher incidence of distant metastases compared with C-AdCC, though they share common molecular features. A high Ki-67 index may be an adverse prognostic factor for metastasis.

Retroperitoneal laparoscopic partial nephrectomy for unilateral synchronous multifocal renal carcinoma with different pathological types: A case report.

BACKGROUND: The majority of renal cell carcinomas are single lesions; unilateral synchronous multifocal renal carcinoma (USMRC) is rarely reported and poses a treatment challenge for urological oncologists. CASE SUMMARY: A 56-year-old man was hospitalized for pain and discomfort in the right kidney area for 6 d. Contrast-enhanced computed tomography demonstrated cT1a renal tumors at the lower pole of the right kidney and a cT1b renal tumor at the middle dorsal portion of the right kidney. The patient underwent retroperitoneal laparoscopic partial nephrectomy (RLPN). There were no complications peri-operatively. Histopathology revealed a low-grade, pathologic stage T1a (pT1a), clear cell renal cell carcinoma at the lower pole of the right kidney and a pT1b, chromophobe renal cell carcinoma at the middle dorsal portion of the right kidney. No tumor bed recurrence or metastasis was observed on imaging and his renal function remained stable during the 12-mo follow-up period. CONCLUSION: RLPN is a safe, effective, and feasible for the management of USMRC, which can obtain equivalent oncological results with optimal renal function preservation.

Oral Tongue Cancer in a Patient with Fanconi Anemia: A Case Report and Literature Review.

PURPOSE: Fanconi anemia (FA) is a rare genetic disorder characterized by congenital anomalies, progressive bone marrow failure and high susceptibility to solid tumors, especially head and neck squamous cell carcinoma (HNSCC). Management of FA patients with head and neck cancer is a challenge due to increased risk of surgery, poor tolerance of chemotherapy, and severe myelotoxicity of radiotherapy. PATIENTS AND METHODS: We present a case of a 33-year-old man with carcinoma of oral tongue (T1N2M0), who experienced prolonged and profound bone marrow failure as a consequence of concurrent cisplatin/radiation. The young patient who developed HNSCC without risk factors, the myelotoxicity after exposure to platinum-based agent cisplatin and the further evaluation of phenotypic characteristics raised suspicion of FA. Whole exome sequencing performed for the patient and parents ultimately established the diagnosis of FA. RESULTS: Genetic testing in 23 FANC genes revealed two novel heterozygous mutations, c.367C>T and c.3971_3972delCGinsTT in FANCA gene of the patient, which were inherited from his father and mother, respectively. Radiotherapy with reduced dose has successfully alleviated the symptoms of tumor invasion and progression, and the radiation-related side effects were acceptable. Unfortunately, the patient eventually died of locoregional disease progression. CONCLUSION: This case highlights the importance of considering the diagnosis of FA in young patients who develop HNSCC in the absence of risk factors, thus permitting more effective oncological treatment strategies and improved outcomes. In conclusion, any decision on different modalities of management in such patients should be based on a balance between locoregional control and therapeutic toxicity.

Biochar-activated persulfate for organic contaminants removal: Efficiency, mechanisms and influencing factors.

Turning biomass into biochar as a multifunctional carbon-based material for water remediation has attracted much research attention. Sawdust and rice husk were selected as feedstock for biochar (BC) production, aiming to explore their performance as a catalyst to activate persulfate (PS) for degrading acid orange 7 (AO7). There was an excellent synergistic effect in the combined BC/PS system. Sawdust biochar (MX) showed a faster and more efficient performance for the AO7 degradation due to its abundant oxygen functional groups, compared to rice husk biochar (DK). In the BC/PS system, AO7 was well decolorized and mineralized. Based on the two-dimensional correlation analysis method, the azo conjugation structure and naphthalene ring of AO7 molecule changed first then benzene ring changed during the reaction. Moreover, AO7 decolorization efficiency increased with the increase of PS concentration and biochar dosage, and the deacrease of pH. Biochar deactivated after used twice. When the biochar reached its adsorption equilibrium of AO7, the AO7 could not be degraded in the BC/PS system. SO4- and OH participated in the reaction together and OH played the main role in activating PS to AO7 decolorization based on the radical scavengers experiment. All of results indicate using biochar to activate PS for degradation of AO7 contaminated water is a promising method.

Polymorphisms of survivin and its protein expression are associated with colorectal cancer susceptibility in Chinese population.

To investigate the association of survivin -31G/C, -141G/C, and -241T/C polymorphisms with colorectal cancer (CRC) susceptibility and explore the mechanisms of the survivin polymorphism in CRC development. A case-control study was conducted of 275 CRC cases and 270 healthy controls. Polymorphisms of survivin -31G/C, -141G/C, and -241T/C were genotyped by polymerase chain reaction-restriction fragment length polymorphism. Survivin and Ki-67 expression was analyzed by immunohistochemistry by the Envision technique for the paraffin sections of 152 CRC. It showed that the -31G/C genotype and allele distribution were significantly different between the CRC cases and controls. The -31CC genotype and -31C allele were over-represented among the CRC cases. Compared with the CC genotype, the GC and GG genotypes had a significantly decreased risk of CRC (p=0.015). Survivin and Ki-67 expression of patients with the CC genotype was significantly higher than the patients with the GC and GG genotypes. In addition, a significantly positive correlation was found between expression of Survivin and Ki-67. There were no significant difference of the -141G/C and -241T/C polymorphism distributions among cases and controls. Survivin 31G/C may adjust the Survivin expression, and it might contribute to a risk of developing CRC.

[Application of Warthin-Starry stain, immunohistochemistry and transmission electron microscopy in diagnosis of cat scratch disease].

OBJECTIVE: To evaluate the diagnostic utility of Warthin-Starry silver stain, immunohistochemistry and transmission electron microscopy in the detection of human Bartonella henselae infection and pathologic diagnosis of cat scratch disease (CSD). METHODS: The paraffin-embedded lymph node tissues of 77 histologically-defined cases of cat scratch disease collected during the period from January, 1998 to December, 2008 were retrieved and studied using Warthin-Starry silver stain (WS stain) and mouse monoclonal antibody against Bartonella henselae (BhmAB stain). Five cases rich in bacteria were selected for transmission electron microscopy. RESULTS: Under electron microscope, the organisms Bartonella henselae appeared polymorphic, round, elliptical, short rod or bacilliform shapes, ranged from 0.489 to 1.110 microm by 0.333 to 0.534 microm and often clustered together. Black short rod-shaped bacilli arranged in chains or clumps were demonstrated in 61.0% (47/77) of CSD by WS stain. The organisms were located outside the cells and lie mainly in the necrotic debris, especially near the nodal capsule. In 72.7% (56/77) of the cases, dot-like, granular as well as few linear positive signals were observed using BhmAB immunostain and showed similar localization. Positive results for both stains were identified in 59.7% (46/77) of the cases. When applying both stains together, Bartonella henselae was observed in 74.0% (57/77) of the case. The difference between the results obtained by WS stain and BhmAB immunostain was of statistical significance (P < 0.05). CONCLUSIONS: Bartonella henselae is the causative pathogen of cat scratch disease. WS stain, BhmAB immunostain and transmission electron microscopy are helpful in confirming the histologic diagnosis. Immunostaining using BhmAB can be a better alternative than WS stain in demonstrating the organisms.