Absence of BRAF and HRAS mutations in eruptive Spitz naevi.

BACKGROUND: Eruptive Spitz naevi have been reported rarely in the literature. In solitary Spitz naevi, BRAF and HRAS mutations, as well as increased copy numbers of chromosome 11p have been identified. OBJECTIVES: To investigate the genetic changes underlying eruptive Spitz naevi. METHODS: We report on a 16-year-old boy who developed multiple disseminated eruptive Spitz naevi within a few months. We analysed BRAF, HRAS, KRAS and NRAS genes in 39 naevi from this patient for hotspot mutations. Furthermore, comparative genomic hybridization analysis was performed in three lesions. RESULTS: None of the Spitz naevi displayed a mutation in the analysed genes, and no chromosomal imbalances were observed. Conclusions Our results indicate that the typical genetic alterations described in solitary Spitz naevi appear to be absent in eruptive Spitz naevi. Yet unknown alternative genetic alterations must account for this rare syndrome.

Microsatellite analysis--DNA test in urine competes with cystoscopy in follow-up of superficial bladder carcinoma: a phase II trial.

BACKGROUND: It has been shown that microsatellite analysis (MA) is able to detect bladder carcinoma in urine. Relatively small groups of patients often with high stage and grade disease were investigated. However, greater than 85% of cystoscopies are performed for follow-up of superficial bladder carcinoma. The authors evaluated this DNA-based method in a group of consecutive patients in follow-up after transurethral resection of superficial disease. METHODS: Matched blood and urine samples from 109 patients were obtained before cystoscopy and subjected to MA. The BTA stat test (Bard Diagnostic Sciences, Inc., Redmond, WA) and cytology were used for comparison. RESULTS: Sixteen patients were excluded: the DNA was of insufficient quality for 7 patients and leukocyte abundance rendered the result of MA unreliable for 9 patients. For the remaining 93 patients, MA detected 18 of the 24 recurrent tumors. The six undetected tumors were small pTaG1 lesions for which immediate surgery was not necessary. Conversely, 5 of 9 patients with a positive MA and a negative cystoscopy had a tumor recurrence within 6 months after urine collection. In contrast, a recurrence occurred in only 7 of 60 patients who were negative in both MA and cystoscopy (P = 0.006). The MA (74%) appeared more sensitive than the BTA stat test (56%) or urine cytology (22%). CONCLUSIONS: Microsatellite analysis is a DNA test in urine that reliably signals the presence of recurrent bladder carcinoma, sometimes even before cystoscopic evidence of the disease. This noninvasive diagnostic tool has the potential to replace cystoscopy in many cases. The authors' results warrant the need for randomized trials.

The fibroblast growth factor receptor 3 (FGFR3) mutation is a strong indicator of superficial bladder cancer with low recurrence rate.

We analyzed the possible prognostic value of the recently discovered fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer. A FGFR3 mutation was found in 34 of 53 pTaG1-2 bladder cancers, whereas none of the 19 higher-staged tumors had a mutation (P < 0.0001). In 57 patients with superficial disease followed prospectively by cystoscopy for 12 months, 14 of 23 patients in the wild-type FGFR3 group developed recurrent bladder cancer compared with only 7 of 34 patients in the mutant group (P = 0.004). The recurrence rate per year was 0.24 for the FGFR3 mutant tumors and 1.12 for tumors with a wild-type FGFR3 gene. In addition, FGFR3 mutation status was the strongest predictor of recurrence when compared with stage and grade (P = 0.008). This is the first mutation in bladder cancer that selectively identifies patients with favorable disease characteristics. Our results suggest that the frequency of cystoscopic examinations can be reduced considerably in patients with FGFR3-positive tumors.