The diagnosis of renal cell carcinoma (RCC) remains problematic, especially in the context of metastasis or small needle biopsy specimens. The renal cell carcinoma marker (RCCM) and kidney-specific cadherin (KSC) are considered specific markers for RCC but are expressed preferentially in specific subtypes of RCC of lower grades. This study was aimed at evaluating the usefulness of PAX-2 in the diagnosis of renal tumors and comparing it with that of RCCM and KSC. Immunostaining for PAX-2, RCCM, and KSC was performed on consecutive tissue sections of 130 renal tumors. PAX-2 was successfully detected in routine tissue specimens. Although PAX-2 seems to be more sensitive than RCCM and KSC, there is significant staining overlap in relation to histologic subtypes, justifying the use of all 3 markers, which helps detect the vast majority of renal neoplasms. PAX-2 seems to have a significant role in renal neogenesis and may represent a novel therapeutic target.
"However, in blood samples of healthy volunteers bands corresponding to the known splice variants of PAX2 and to a lesser extent to the new splice variant could be also detected. Expression of PAX2 in lymphoid cells was also observed by others . "
[Show abstract][Hide abstract] ABSTRACT: PAX2 is a transcription factor with an important role in embryogenic development. However, PAX2 expression was frequently identified in neoplasia responsible for the growth and survival of cancer cells. Due to alternative splicing of exon 6, exon 10 and exon 12 four isoforms of PAX2 are described so far.
The expression of an intron 9 containing PAX2 splice variant was analyzed in neoplastic B cell and solid tumor cell lines as well as in primary tumor samples by quantitative RT-PCR. PAX2 proteins were detected by Western Blot in a subset of cell lines.
All 14 lymphoma cell lines expressed an undescribed PAX2 splice variant containing the entire intron 9 sequence and the exon 10 sequence. This splice variant could also be detected in 35 solid tumor cell lines, in leukemia and lymphoma as well as in colon carcinoma and melanoma patient samples and in blood samples of healthy donors. Expression of this new splice variant on protein level was verified by Western Blot analysis.
We discovered a previously undescribed intron 9 and exon 10 containing splice variant of PAX2 in B-cell neoplasia and in solid tumors on mRNA and protein level.
Journal of Translational Medicine 02/2009; 7(1):36. DOI:10.1186/1479-5876-7-36 · 3.93 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Multiple morphologic subtypes of renal cell carcinoma exist and management protocols are dependent on each subtype. Therefore, it is paramount to distinguish one subtype from another. In the setting of metastatic carcinoma, primarily kidney should be considered with the appropriate histologic features. Diagnostic immunohistochemistry (IHC) is crucial in these clinical settings. Immunohistochemical stains such as RCCM, CD10, cadherins, PAX-2, PAX-8, cytokeratins, vimentin, EMA, c-Kit, TFE-3, and alpha-methylacyl-CoA racemase in addition to other IHC markers serve as essential tools to the surgical pathologist. This article addresses the frequently used IHC markers and their applications in common diagnostic problems encountered in the diagnosis of kidney tumors.
Pathology Case Reviews 12/2009; 15(1):25-34. DOI:10.1097/PCR.0b013e3181d51c70
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