EGFR, KRAS, BRAF, and PIK3CA characterization in squamous cell anal cancer.

BACKGROUND: Combined chemoradiation therapy is the gold standard in the treatment of squamous cell anal cancer (SCAC). However, even if the response rate is very high, many patients eventually relapse or experience a reccurrence, thus requiring an invasive surgical procedure that has severe side effects. Most SCAC tumors overexpress epidermal growth factor receptor (EGFR); therefore, it is reasonable to consider anti-EGFR drugs as a new treatment option, as demonstrated by anecdotal reports. Promising results obtained in other solid tumors, both squamous and non-squamous, have revealed that an increase in the EGFR gene copy number may predict the efficacy of anti-EGFR therapies, while the presence of mutations in downstream members of the EGFR pathway may confer resistance. These markers have been only sporadically considered in SCAC. METHODS: We investigated the status of the EGFR gene using FISH and examined KRAS, BRAF, and PIK3CA hot-spots mutations using sequencing analysis in a cohort of 84 patients affected by SCAC. RESULTS: Twenty-eight patients (34%) showed an increase in EGFR gene copy number due to amplification (4%) or to polysomy (30%). KRAS and PIK3CA gene mutations were found in 4 (5%) and 13 patients (16%), respectively. No mutations were found in the BRAF gene. CONCLUSIONS: The characterization of the EGFR pathway may help in identifying different subgroups of SCAC that have specific molecular features, which may have implications in what targeted therapies are used to treat each patient.

Adjuvant temozolomide chemotherapy for treatment of papillary tumor of the pineal region.

BACKGROUND: We present a personal case of papillary pineocytoma in a 42-year-old woman. METHODS: The lesion was first treated surgically both for diagnostic aims and for resolution of the mass effect causing hydrocephalus and correlated neurological disturbances. Because the tumor recurred after surgery and radiotherapy, we decided to further treat the patient with chemotherapy, in particular with temozolomide. RESULTS: Currently, almost 9 years after the first treatment, the patient is symptom-free and follow-up magnetic resonance imaging shows no tumor recurrence. CONCLUSION: Although surgery should be considered the first-choice therapy, we think that temozolomide can be a valid option in case of recurrence of these rare tumors.

Presacral cystic neuroblastoma: case report and review of the literature.

Cystic neuroblastoma (CN) is highly unusual; since 2005 only 55 cases have been reported in the medical literature. The authors report a case of pelvic (presacral) CN in a 2-month-old boy. Computed tomography scan confirmed a cystic, septated, and encapsulated mass. Complete tumor excision was achieved. Histopathology diagnosed a stroma-poor and undifferentiated neuroblastoma with multiple calcifications. meta-iodobenzylguanidine scan, radionuclide bone, and a bone marrow aspiration were normal. N-myc amplification was absent. The infant was classified stage I neuroblastoma and received no further therapy (4 y of follow-up). To the authors' knowledge, this is the first report of a CN in a pelvic-presacral location.

Long-term outcome (35 years) of hepatitis C after acquisition of infection through mini transfusions of blood given at birth.

Long-term follow up studies of hepatitis C virus (HCV) infection rarely exceed 20-25 yr. We studied the outcome of HCV infection in 35-yr-old adults infected at birth (1968) through mini transfusions of blood. A retrospective-prospective study was carried out. The cohort included 31 individuals who were given mini blood transfusions (21-30 ml) collected from a donor subsequently revealed to be HCV infected. At enrollment (1998), 18 of 31 (58.1%) recipients had anti-HCV antibody and 16 (88.9%) of them were HCV-RNA positive. All viremic recipients and the infectious donor had the same genotype 1b. Sequence analysis of E1/E2 and NS5b regions, coupled with phylogenetic analysis, indicated that HCV isolates from donor/recipients were linked. Eleven of the 16 viremic recipients gave consent to liver biopsy. Nine had no fibrosis or mild portal fibrosis and 2 had either discrete (Ishak's staging 3) or marked (Ishak's staging 4) fibrosis. During the prospective follow-up period (1998-2003), 2 patients were given therapy, one of whom achieved sustained clinical and virologic response. A second biopsy, performed in 5 patients at a 5 yr interval, revealed no substantial modifications in 4 cases and progression from absence of fibrosis to mild portal fibrosis in the fifth. In conclusion, taking into account the limited study sample, these findings suggest that HCV infection acquired early in life shows a slow progression and mild outcome during the first 35 yr of infection.