The most common chromosome aberration detected by high-resolution comparative genomic hybridization in vulvar intraepithelial neoplasia is not seen in vulvar squamous cell carcinoma

Abstract

We analyzed genetic changes in condylomas (four cases), vulvar intraepithelial neoplasia I–III (VIN I–III, eleven cases), and primary vulvar squamous cell carcinomas (VSCC, ten cases) by high-resolution comparative genomic hybridization (HR-CGH) and flowcytometry. All samples were also human papilloma virus (HPV)-genotyped. Gain of chromosome 1, the aberration most often seen in VIN III (67%), was not seen in HPV-positive or -negative VSCCs (0%). Both VIN III and VSCC frequently showed gain of 3q (56 and 70%, respectively). The VIN III samples often demonstrated gain of 20q (56%) and 20p (44%), and the VSCC samples gain of 8q (60%), loss of 3p (50%), and 8p (40%). None of the four most frequent changes in the VSCC samples occurred exclusively in the HPV-positive or -negative samples. As expected, we did not find any cytogenetic changes in condylomas and nearly any changes in VIN I–II.

Molecular heterogeneity in human papillomavirus‐dependent and ‐independent vulvar carcinogenesis

“…Particularly, gain of the complete chromosome 1 was significantly associated with the development of VSCC. Similar to our observation, Bryndorf et al and Purdie et al also found that HPV‐positive VIN lesions frequently exhibited gains of chromosome 1pq, whereas this was not the case for carcinomas. Based on this observation it has been suggested that these VIN lesions are unlikely to represent direct precursors of VSCC .…”

“…HPV‐positive VIN VSCC frequently showed chromosome 1 gains (discussed below), chromosome 3q gain, chromosome 4 loss and chromosome 20 gain. In agreement with this, 2 previous studies on HPV‐positive VIN lesions demonstrated frequent gains at chromosome 1pq, 3q, 19, and/or 20q . Gains of chromosome 1pq, 3q, and 20q were also common in HPV‐positive anal intraepithelial neoplasia .…”

“…Molecular markers reflecting genetic and epigenetic host cell alterations associated with vulvar carcinogenesis are expected to be most promising. However, studies on genetic and epigenetic aberrations in VIN and VSCC are limited . TP53 mutations are frequently (~30%) detected in HPV‐negative VSCC as well as HPV‐negative VIN (~21%), suggesting that TP53 mutations might be involved at an early stage .…”

“…Immunohistochemically HPV‐positive VIN shows usually absence of p53 and strong p16 expression . VSCC exhibit frequent gains of chromosome 3q and 8q, and losses of 3p, 8p, and 11q …”

Chromosomal aberrations in angioimmunoblastic T‐cell lymphoma and peripheral T‐cell lymphoma unspecified: A matrix‐based CGH approach

“…Gains of 20q are very common in lymphoid malignancies as well as in epithelial cancers (Joos et al, 2002(Joos et al, , 2003Garcia et al, 2003;Hurst et al, 2004;Kimura et al, 2004). Gains of 22q were also detected in noninvasive in situ neoplasia, indicating that it may be a primary or at least early genetic event in neoplastic transformation (Bryndorf et al, 2004). However, it is not specific for PTCL or lymphoma at all.…”