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PurposeNeurofibromatosis type 1 (NF1) is a complex, multisystem disorder that is characterized, among other features, by a higher risk of developing benign and malignant tumors. Despite NF1 being one of the most common autosomal dominant genetic disorders, data from adult individuals in several world regions remain elusive, including Hispanics.MethodsThe present is a retrospective cohort study conducted among adult patients with a confirmed diagnosis of NF1 who attended a single cancer-reference center, the Instituto Nacional de Cancerología in Mexico City from 2001 to 2021. Data were extracted from electronic health records and collected in an anonymous database by an NF1-expert physician in order to obtain demographic characteristics and detailed information regarding the development of tumors among this patient subgroup. All patients with malignant tumors or with benign tumors, which severely affected their quality of life, were included in this study.ResultsPatient records were reviewed from 2001 to 2021. A total of N = 29 patients met the criteria, with a higher proportion of female compared with male subjects [N = 22 (75.9%) vs. N = 7 (24.1%)]. Patients had a mean age at diagnosis of tumors of 32.2 years (SD = 11.2 years). In terms of malignant neoplasms, the most frequent malignant tumor presented by patients in this cohort was malignant peripheral nerve sheath tumors (N = 7, 24.1%), this was followed by breast cancer (n = 4, 13.8% among all patients, 18.2% among female patients). Other tumors also identified in this cohort included melanoma, gastrointestinal stromal tumors, and rectal cancer.ConclusionIn Mexico, patients diagnosed with NF1 develop diverse tumors as adults. As described in other studies, the most frequent malignant tumor in this patient population is the malignant peripheral nerve sheath tumor. Further studies are required to increase the scarce information available for adult Hispanics with NF1.

Carpal tunnel syndrome (CTS) is the most frequent entrapment neuropathy. Patients commonly experience neuropathic pain, leading them to seek medical advice. However, other symptoms experienced in patients with CTS, such as paresthesia, dysesthesia and allodynia, classed as positive sensory symptoms (PSS), are often under-reported. In the present study, patients with surgically-managed CTS were observed pre- and post-surgery to evaluate PSS, using the symptoms scale component of the Boston Carpal Tunnel Questionnaire (BCTQ) and the Sensory Frequency of Symptoms Scale. In total, 19 patients were included in the present study, with 79% female patients, and a mean age of 54±10.59 years. In addition, the mean follow-up was 63±29.91 months. The results of the present study revealed a pre-surgery BCTQ score of 3.52±0.63 and a post-surgery BCTQ score of 1.58±0.61. Notably, improvements in pain were observed, at 7.7±2.26 pre-surgery compared with 1.65±2.88 post-surgery. Compared with pre-surgery, post-surgery paresthesia scores were reduced from 2.94±0.82 to 0.47±0.45, dysesthesia scores were reduced from 2.52±0.84 to 0.47±0.39 and allodynia scores were reduced from 0.63±0.75 to 0.26±0.47. In conclusion, the results of the present study demonstrated that median nerve decompression ameliorated CTS symptoms, such as paresthesia and dysesthesia. However, further investigations are required to verify the benefits of surgery in relieving allodynia. [ABSTRACT FROM AUTHOR]