The BCOR-CCNB3 fusion gene, resulting from a chromosome X paracentric inversion, was recently described in translocation-negative ‘Ewing-like’ sarcomas arising in bone and soft tissue. Genetic subclassification of undifferentiated unclassified sarcomas may potentially offer markers for reproducible diagnosis and substrates for therapy. Using whole transcriptome paired end RNA sequencing (RNA-seq) we unexpectedly identified BCOR-CCNB3 fusion transcripts in an undifferentiated spindle cell sarcoma. RNA-seq results were confirmed through direct RT-PCR of tumor RNA and cloning of the genomic breakpoints from tumor DNA. Five additional undifferentiated sarcomas with BCOR-CCNB3 fusions were identified in a series of 42 pediatric and adult unclassified sarcomas. Genomic breakpoint analysis demonstrated unique breakpoint locations in each case at the DNA level even though the resulting fusion mRNA was identical in all cases. All patients with BCOR-CCNB3 sarcoma were males diagnosed in mid-childhood (7-13 years of age). Tumors were equally distributed between axial and extra-axial locations. Five of the six tumors were soft tissue lesions with either predominant spindle cell morphology or spindle cell areas interspersed with ovoid to round cells. CCNB3 immunohistochemistry showed strong nuclear positivity in 5 tumors prior to oncologic therapy, but was patchy to negative in post-treatment tumor samples. An RT-PCR assay developed to detect the fusion transcript in archival formalin-fixed tissue was positive in all 6 cases, with high sensitivity and specificity in both pre- and post-treated samples. This study adds to recent reports on the clinicopathologic spectrum of BCOR-CCNB3 fusion-positive sarcomas, a newly-emerging entity within the undifferentiated unclassified sarcoma category, and describes a simple RT-PCR assay that in conjunction with CCNB3 immunohistochemistry can be useful in diagnosing these tumors.
Summary Urachal carcinoma is a rare tumor that has not been well studied. To determine the pathologic and clinical features of this disease, we retrospectively evaluated 46 cases from our surgical pathology files. The patients included 16 women and 30 men, with a mean age of 53.4 years (range, 28–82 years). Forty patients had undergone cystectomy, and the remaining 6 had undergone transurethral bladder biopsy. Most tumors were located at the dome (n=44); only 2 were located at both the dome and anterior wall. All tumors consisted of adenocarcinoma, including mucinous (n=36), enteric (n=7), not otherwise specified (n=2), and signet ring cell (n=1) types. Focal areas of signet ring cell features were present in 23 cases, but urothelial carcinoma in situ was not identified in any cases. The tumors invaded the muscularis propria (n=8), perivesical adipose tissue (n=27), and abdominal wall (n=3). Twenty-five patients had died of cancer at a mean of 32 months (range, 12–74 months), and 21 patients were alive at a mean of 65 months (range, 7–230 months). The median cancer-specific survival time of urachal adenocarcinoma patients was 45 months, which was significantly longer than that of bladder urothelial carcinoma patients with similar-stage disease (p=0.047). Patients’ cancer-specific survival was associated with tumor stage according to the Sheldon, Mayo, and TNM staging systems. In conclusion, urachal carcinomas are predominantly composed of invasive adenocarcinomas, which commonly demonstrate mucinous features. Most tumors present at advanced stages but are still associated with a better survival rate than bladder urothelial carcinomas.
The effect of solvent-extracted cottonseed meal (SCSM) as a partial or total replacement of fishmeal was studied in juvenile rainbow trout (Oncorhynchus mykiss). Six experimental diets SCSM0, SCSM25, SCSM50, SCSM75, SCSM75A and SCSMT, containing a gradient of SCSM 0, 152, 305, 465, 460 and 610 g kg )1 to replace 0, 112.5, 225, 337.5, 337.5 and 450 g kg )1 fishmeal protein were fed to triplicate groups (initial body weight of 39.2 ± 0.1 g) for 8 weeks. The diet SCSM75A was supplemented with lysine and methionine, to be similar to SCSM0 for juvenile rainbow trout. Faeces were colleted after 4 weeks of normal feeding for apparent digestibility coefficients (ADC) of dry matter, crude protein and gross energy determination. Total replacement of fishmeal adversely affected growth performance. Fish fed with diet SCSMT had significantly (P < 0.05) lower weight gain, specific growth ratio, feed conversion efficiency (FCE) and protein efficiency ratio than fish fed with other diets. The FCE of SCSM75 and SCSM75A were significantly lower (P < 0.05) than those of fish fed with SCSM0 diets. The ADC of the dry matter of SCSM75 and SCSMT were significantly lower than the SCSM0 diet, and the ADC of crude protein and the energy of SCSMT were the lowest (P < 0.05). The ADC of threonine, proline, alanine, valine, isoleucine, leucine, lysine and methionine of fish fed with diet SCSMT were lower. Lysine and methionine supplement positively affected the ADC of SCS75A diet. There were no significant differences in the fish body composition. It is shown that SCSM can be utilized in the juvenile rainbow trout diet up to 305 g kg )1 , to replace about 50% of fishmeal protein in this experiment. KEY WORDS
Background:Genetic factors are the main cause of early miscarriage. This study aimed to investigate aneuploidy in spontaneous abortion by fluorescence in situ hybridization (FISH) using probes for 13, 16, 18, 21, 22, X and Y chromosomes.Methods:A total of 840 chorionic samples from spontaneous abortion were collected and examined by FISH. We analyzed the incidence and type of abnormal cases and sex ratio in the samples. We also analyzed the relationship between the rate of aneuploidy and parental age, the rate of aneuploidy between recurrent abortion and sporadic abortion, the difference in incidence of aneuploidy between samples from previous artificial abortion and those from no previous induced abortion.Results:A total of 832 samples were finally analyzed. 368 (44.23%) were abnormal, in which 84.24% (310/368) were aneuploidies and 15.76% (58/368) were polyploidies. The first was trisomy16 (121/310), followed by trisomy 22, and X monosomy. There was no significant difference in the rate of aneuploidy in the advanced maternal age group (≥35 years old) and young maternal age group (<35 years old). However, the rate of trisomy 22 and the total rate of trisomies 21, 13, and 18 (the number of trisomy 21 plus trisomy 13 and trisomy 18 together) showed significantly different in two groups. We found no skewed sex ratio. There was no significant difference in the rate of aneuploidy between recurrent miscarriage and sporadic abortion or between the samples from previous artificial abortion and those from no previous artificial abortion.Conclusions:Aneuploidy is a principal factor of miscarriage and total parental age is a risk factor. There is no skewed sex ratio in spontaneous abortion. There is also no difference in the rate of aneuploidy between recurrent abortion and sporadic abortion or between previous artificial abortion and no previous induced abortion.
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