RESUMEN
BACKGROUND: Paracoccidioidomycosis is a systemic mycosis of significant importance in some Latin American countries. The widespread use of neuroimaging methods has shown that involvement of the central nervous system was more frequent than previously reported. The most common form of occurrence of neuroparacoccidioidomycosis is the pseudotumoral one. The authors report a case of pseudotumoral neuroparacoccidioidomycosis localized in the posterior fossa. CASE DESCRIPTION: A 49-year-old single man, rural worker, born and raised in Laranjal Paulista-SP, was admitted to the hospital with 3 months history of bilateral occipital headache every day. Along with a history of active smoking and previous use of alcohol, the patient reported personal history of mild occipitotemporal injury 3 months ago. The patient was submitted to computed tomography in a 16-row multidetector scanner, which revealed a nodular hypodense lesion with a ring-enhancement and associated perilesional edema in the left cerebellar hemisphere. Radiological workup was initiated to investigate the eventual primary neoplastic site. CONCLUSION: The analysis of the lipid peak by spectroscopy of proton magnetic resonance may indicate the neurological involvement by paracoccidioidomycosis, notably in patients with concomitant risk and pulmonary involvement signals.
RESUMEN
BACKGROUND: Comprehensive genomic profiling of clinical samples by next-generation sequencing (NGS) can identify one or more therapy targets for the treatment of metastatic melanoma (MM) with a single diagnostic test. METHODS: NGS was performed on hybridization-captured, adaptor ligation-based libraries using DNA extracted from 4 formalin-fixed paraffin-embedded sections cut at 10 microns from 30 MM cases. The exons of 182 cancer-related genes were fully sequenced using the Illumina HiSeq 2000 at an average sequencing depth of 1098X and evaluated for genomic alterations (GAs) including point mutations, insertions, deletions, copy number alterations, and select gene fusions/rearrangements. Clinically relevant GAs (CRGAs) were defined as those identifying commercially available targeted therapeutics or therapies in registered clinical trials. RESULTS: The 30 American Joint Committee on Cancer Stage IV MM included 17 (57%) male and 13 (43%) female patients with a mean age of 59.5 years (range 41-83 years). All MM samples had at least 1 GA, and an average of 2.7 GA/sample (range 1-7) was identified. The mean number of GA did not differ based on age or sex; however, on average, significantly more GAs were identified in amelanotic and poorly differentiated MM. GAs were most commonly identified in BRAF (12 cases, 40%), CDKN2A (6 cases, 20%), NF1 (8 cases, 26.7%), and NRAS (6 cases, 20%). CRGAs were identified in all patients, and represented 77% of the GA (64/83) detected. The median and mean CRGAs per tumor were 2 and 2.1, respectively (range 1-7). CONCLUSION: Comprehensive genomic profiling of MM, using a single diagnostic test, uncovers an unexpectedly high number of CRGA that would not be identified by standard of care testing. Moreover, NGS has the potential to influence therapy selection and can direct patients to enter relevant clinical trials evaluating promising targeted therapies.