PubMed · 12238113
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
Terumasa Okada, Yuzuru Ito, Kazuki Yasuda. 2002. [MODY genes].. https://pubmed.ncbi.nlm.nih.gov/12238113/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
Pediatric renal cell carcinoma (RCC) associated with ASPL-TFE3 gene fusion resulting from balanced translocation, t(X;17)(p11.2;q25), is a distinctive tumor entity. It is uncommon, and most reported cases have exclusively come from Western societies. We report a case of t(X;17)(p11.2;q25) RCC in a 6-year-old Taiwanese boy. The patient presented with dysuria and intermittent hematuria for 1 year. Nonenhanced CT showed a well-defined homogeneous hyperdensity lesion in the upper pole of the left kidney. This patient refused to receive immediate surgical procedures but had routine follow-ups. After a 9-month follow-up, the patient underwent total nephrectomy with a favorable outcome. Final diagnosis is established based on the characteristic microscopic features, strong nuclear TFE-3 immunoreactivity, and the presence of type 1 TFE3-ASPL fusion gene detected by reverse transcriptasepolymerase chain reactions. No adjuvant therapy is given, and the patient is alive without evidence of disease for 1 year and 6 months.
The transcription factor CCAAT/enhancer binding protein a (C/EBPalpha) is important in the regulation of granulopoiesis and is disrupted in human acute myeloid leukemia. In the present study, we sought to identify novel C/EBPalpha interacting proteins in vivo through immunoprecipitation using mass spectrometry-based proteomic techniques. We identified Max, a heterodimeric partner of Myc, as one of the interacting proteins of C/EBPalpha in our screen. We confirmed the in vivo interaction of C/EBPalpha with Max and showed that this interaction involves the basic region of C/EBPalpha. Endogenous C/EBPalpha and Max, but not Myc and Max, colocalize in intranuclear structures during granulocytic differentiation of myeloid U937 cells. Max enhanced the transactivation capacity of C/EBPalpha on a minimal promoter. A chromatin immunoprecipitation assay revealed occupancy of the human C/EBPalpha promoter in vivo by Max and Myc under cellular settings and by C/EBPalpha and Max under retinoic acid induced granulocytic differentiation. Interestingly, enforced expression of Max and C/EBPalpha results in granulocytic differentiation of the human hematopoietic CD34(+) cells, as evidenced by CD11b, CD15 and granulocyte colony-stimulating factor receptor expression. Silencing of Max by short hairpin RNA in CD34(+) and U937 cells strongly reduced the differentiation-inducing potential of C/EBPalpha, indicating the importance of C/EBPalpha-Max in myeloid progenitor differentiation. Taken together, our data reveal Max as a novel co-activator of C/EBPalpha functions, thereby suggesting a possible link between C/EBPalpha and Myc-Max-Mad network.
The genetics of renal tumors in children is widely recognized. However, most of the studies published to date emphasize the association between Wilms tumor and the WT-1 gene. Recently, a unique translocation between the X chromosome and chromosome 1 or t(X;1) has been described in several reports of renal cell carcinomas (RCCs) diagnosed in children and adolescents that results in PRCC-TFE3 gene fusion. We report here a 9-year old African-American boy with a history of a right congenital mesoblastic nephroma treated with nephrectomy and followed by annual checkups. After 9 years, he was diagnosed with a mass at the hilum of the left kidney during the work-up of new-onset hypertension. A limited biopsy revealed densely hyalinized connective tissue that was initially interpreted to be a hyalinized contralateral mesoblastic nephroma. The child received chemotherapy, but the mass continued to grow. He underwent a left nephrectomy, and the pathology was diagnostic for a clear cell RCC. Chromosomal analysis disclosed a t(X;1)(p11.2;q21) translocation, which is known to result in a PRCC-TFE3 gene fusion. The tumor showed nuclear labeling for TFE3 protein by immunohistochemistry, supporting the above diagnosis. He has been on hemodialysis, is tumor free, and has not been receiving chemotherapy for 24 months. This is the first report of a RCC as a second malignant neoplasm in a child treated for a congenital mesoblastic nephroma.