To determine the incidence of Xp11 translocation renal cell carcinoma (RCC) in adult patients using cytogenetics and immunohistochemstry.
Cytogenetic studies were prospectively done using tumor ...samples from 443 consecutive adult Japanese patients (ages 15-89 years) who underwent nephrectomy for RCC. TFE3 immunohistochemistry was done for cases in which cytogenetic results were not obtained. Clinicopathologic characteristics of Xp11 translocation RCC were examined.
Mitotic cells suitable for cytogenetic analysis were obtained in 244 tumor samples (55%); among these, we identified 4 cases (1.6%) of Xp11 translocation RCC. TFE3 immunohistochemistry identified 3 positive cases (1.5%) among the remaining 199 cases. The median age of the 7 patients was 41 years (range, 15-59 years), and 15% of RCC patients (4 of 26) who were younger than ages 45 years had this type of RCC. Of the four Xp11 translocation RCC patients whose karyotypes were determined, two had an ASPL-TFE3 gene fusion. Of these 2, 1 had pulmonary metastasis at presentation, and the other developed liver metastasis 12 months after nephrectomy and died of the disease. The remaining two patients had PRCC-TFE3 and PSF-TFE3 gene fusions, respectively. Both had nodal involvement but remained disease free for 3 and 5 years, respectively, after surgical resection of lymph node metastases. Of the 3 immunohistochemically diagnosed patients, 1 had nodal metastases at presentation and died 9 months after surgery.
This is the first report to determine the incidence of Xp11 translocation RCC in adult patients. We found that this disease is relatively common in young adults.
Using a differential display technique, we identified two genes that are down‐regulated in human gastric cancer tissue as compared to normal gastric mucosa. The down‐regulated expression of these ...genes in gastric cancer tissue was confirmed by northern blotting analysis and RT‐PCR. One, CA11, was a novel gene expressed predominantly in the stomach and was depleted in all of the gastric cancer cell lines examined. The other gene, GC36, was homologous to the digestive tract‐specific calpain gene, nCL‐4. The expression of both GC36 and nCL‐4 was suppressed or depleted in gastric cancer cell lines of differentiated and poorly differentiated types. This is the first report of genes, the expression of which is down‐regulated with considerable frequency in gastric cancer.
Cytogenetic study of secondary malignancy in giant cell tumor Fujibuchi, Taketsugu; Matsumoto, Seiichi; Shimoji, Takashi ...
Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association,
01/2015, Letnik:
20, Številka:
1
Journal Article
We developed an efficient method of isothermally amplifying DNA termed ICAN, Isothermal and Chimeric primer-initiated Amplification of Nucleic acids. This method allows the amplification of target ...DNA under isothermal conditions at around 55°C using only a pair of 5'-DNA-RNA-3' chimeric primers, a thermostable RNaseH and a DNA polymerase with strong strand-displacing activity. ICAN is capable of amplifying DNA at least several times greater than the amount produced with PCR by increasing primer concentration. This method would be applicable for on-site DNA detection including gene diagnosis, and would also be suitable for 'real time' detection when combined with a cycling probe.
We report a morphologically rare type of tenosynovial giant cell tumor (TSGCT), localized type, occurring in a 49-year-old man. Imaging examination revealed multiple nodular lesions around the right ...knee joint. The largest one extended to both intra- and extra-osseous region of the right distal femur. Histologically, the tumor consisted of epithelioid mononuclear cells and they looked like to have abundant eosinophilic cytoplasm reminiscent of hepatic tissues. In some areas, however, typical histologic features of TSGCT were observed. Electron microscopy revealed that the eosinophilic cytoplasm-like substance was intercellular fibrinous material surrounding the mononuclear tumor cells. Immunohistochemically, mononuclear tumor cells and multinucleate giant cells were positive for CD68 (Kp1) and some of the mononuclear tumor cells were also positive for desmin. Finally, we made the diagnosis of hepatoid TSGCT.
Isothermal and Chimeric primer-initiated Amplification of Nucleic acids (ICAN) allows the amplification of target DNA under isothermal conditions at around 55°C using only a pair of 5′-DNA-RNA-3′ ...chimeric primers, thermostable RNaseH and a DNA polymerase with strand-displacing activity (H. Mukai et al. J. Biochemistry, in the preceding paper in this issue). Here we elucidated the mechanism of ICAN by analysing the nicking site of RNaseH, behaviour of chimeric primers and extension products. We found that the ICAN reaction was composed of two unique mechanisms, multi-priming and template-switching, that were responsible for the highly efficient amplifying capability of ICAN. The simultaneous occurrence of two types of reactions, one based on multi-priming and the other based on template-switching, is likely to drive the DNA amplification in ICAN.
The concentrations of persistent organic pollutants (POPs), such as HCB, α-, β-, γ- and δ-HCH,
trans- and
cis-chlordane (
t-CHL,
c-CHL), DDE, DDD and DDT, in ambient air have been measured at five ...sampling points in Niigata area, Japan (Niigata, Maki, Tsubame, Jouzo and Yahiko) during the period from September 1999 to November 2001. HCB, α-HCH,
t-CHL and
c-CHL showed higher concentrations than the other chemicals in all locations. All the POPs except
t-CHL and
c-CHL collected at urban sites of the Niigata Plain was almost the same in their concentration levels. Higher concentrations of
t-CHL and
c-CHL in residential areas should be attributed to the past usage of the chemical as a termiticide. At Yahiko (remote site), most of the POPs showed lower concentrations than those measured at the other sampling sites, although α-HCH and γ-HCH were comparable with the concentrations found at the other sampling sites. All POPs except α-HCH and γ-HCH tend to decrease 41–80% in their concentrations from 2000 to 2001. The lower POPs concentrations in winter and the higher POPs concentrations in summer at every sampling point can be partly explained by temperature differences. Applying the equation of the logarithm of the POP partial pressure in air versus reciprocal temperature (lnPa=
m/
T+
b) to our data, linear relations were observed. HCB gave a poor linearity and the smallest slope, while β-HCH,
t-CHL and
c-CHL gave good linearities and large slopes in the equation. The results suggest that HCB level is influenced by not only the emission from terrestrial sources but the global-scale background pollution. A peculiar observation is that β-HCH concentration measured in our study showed large temperature dependence, indicating there could be a source of contamination in the surrounding areas.
Ewing's family tumors (EFTs) are highly malignant tumors arising from bone and soft tissues that exhibit EWS–FLI1 or variant EWS–ETS gene fusions in more than 85% of the cases. Here we show that CIC, ...a human homolog of Drosophila capicua which encodes a high mobility group box transcription factor, is fused to a double homeodomain gene DUX4 as a result of a recurrent chromosomal translocation t(4;19)(q35;q13). This translocation was seen in two cases of soft tissue sarcoma diagnosed as Ewing-like sarcoma. CIC–DUX4 exhibits a transforming potential for NIH 3T3 fibroblasts, and as a consequence of fusion with a C-terminal fragment of DUX4, CIC acquires an enhanced transcriptional activity, suggesting that expression of its downstream targets might be deregulated. Gene expression analysis identified the ETS family genes, ERM/ETV5 and ETV1, as potential targets for the gene product of CIC–DUX4. Indeed, CIC–DUX4 directly binds the ERM promoter by recognizing a novel target sequence and significantly up-regulates its expression. This study clarifies the function of CIC and its role in tumorigenesis, as well as the importance of the PEA3 subclass of ETS family proteins in the development of EFTs arising through mechanisms different from those involving EWS–ETS chimeras. Moreover, the study identifies the role of DUX4 that is closely linked to facioscapulohumeral muscular dystrophy in transcriptional regulation.
We developed a detection method for “Candidatus Liberibacter asiaticus”, causal agent of citrus huanglongbing, using isothermal and chimeric primer-initiated amplification of nucleic acids combined ...with cycling probe technology (Cycleave ICAN). With Cycleave ICAN, the reaction was done in one tube in 1 h without the need for electrophoresis, and false positives were not generated. In addition, Cycleave ICAN method was more sensitive than the conventional PCR method. Cycleave ICAN helps shorten the time for the large-scale detection needed to manage huanglongbing.
Renal cell carcinoma (RCC) with t(6;11) translocation, involving the transcription factor EB (TFEB) and Alpha, also known as MALATI, (TFEB RCC), is extremely rare, with only 20 cases reported to ...date. It may be frequently misdiagnosed because of a lack of established characteristics. TFEB RCCs are predominantly seen in younger patients and are generally indolent, with only 2 cases of metastasis. Genetic analysis has been limited, showing break points upstream of TFEB exon 3, yielding only a single transcript. We examined 3 new adult Japanese TFEB RCC cases by means of precise clinicopathologic, immunohistochemical, cytogenetic, and molecular analyses and compared them with 200 ordinary RCCs. A 57-year-old man was the oldest patient with TFEB RCC at the time of this study. Although the tumor had histology typical of translocation RCC, its fusion points were different between the genomic and transcript coordinates. A 37-year-old man had an aggressive course resulting in death. The tumor had 2 variants of messenger ribonucleic acid. A 47-year-old man showed borderline histologic and immunohistochemical features between TFEB RCC and chromophobe-type RCC. The tumor had a fusion point in TFEB exon 4, downstream of the wild-type ATG in exon 3. Nuclear expression of the TFEB protein was detected, and a Western blotting analysis identified a protein similar in size to the wild-type TFEB protein. Immunohistochemistry is useful for the diagnosis of these tumors, and TFEB RCCs have heterogeneous clinicopathologic features and more diverse fusion patterns than previously thought, requiring attention to polymerase chain reaction experiments for diagnosis. Our study will contribute to the correct diagnosis of TFEB RCC.
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