Ekokobe Fonkem D.O.

Boccia, M.L., Anyanda, E.I. and Fonkem, E. (2021). “A Preliminary Report on Quality of Life and Sexual Function in Brain Tumor Patients.” J Sex Med Feb 6;S1743-6095(21)00174-0. [Epub ahead of print].

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BACKGROUND: As tumor treatment has advanced, patients are surviving and returning to productive lives. Quality of life (QoL) has become a significant consideration in the care of survivors. The 2005 Institute of Medicine Cancer Survivorship Care Planning requires the inclusion of information on the possible effects of cancer on marital/partner relationship and sexual functioning, among other factors related to QoL. AIM: The purpose of this study is to explore the quality of life and the rates and types of sexual dysfunction among brain tumor patients. METHODS: Patients were recruited from a neuro-oncology practice and given a QoL questionnaire (FACT-Br). Women were given the Female Sexual Function Index (FSFI). Men were given scales to assess premature ejaculation (PE), erectile dysfunction (ED), and Peyronie’s disease. In addition, information about the site and type of tumor and treatment (surgery, radiation, chemotherapy) was collected. Descriptive statistics, as well as T-tests and ANOVAs, were used to analyze the data. OUTCOMES: Study outcomes were obtained utilizing clinical cutoff scores for the sexual function questionnaires. RESULTS: Data were collected on 50 patients. The most common form of brain tumor in this sample was glioblastoma. The frontal lobe was the most common location of tumors. There was significantly more sexual dysfunction than previously reported, with 66% of the sexually active women meeting the criteria for total FSFI. Of the men who were sexually active, 60% reported some ED, and 80% reported PE. CLINICAL TRANSLATION: The current findings contribute to supporting the assertion that it is important for physicians to discuss with their cancer patients the issues related to sexual function. STRENGTHS & LIMITATIONS: A primary strength of this study is the utilization of validated assessments of sexual function. The primary limitation is the sample size, particularly for men. CONCLUSION: Our capacity to address the sexual function concerns of patients is dependent on our understanding of the types of difficulties encountered. This study contributes information about sexual function, a major contributor to QoL, in patients with brain tumor diagnosis and treatment.

Mukherjee, S., E. Stroberg, F. Wang, L. Morales, Y. Shan, A. Rao, J. H. Huang, E. Wu and E. Fonkem (2020). “SMARCB1 Gene Mutation Predisposes to Earlier Development of Glioblastoma: A Case Report of Familial GBM.” J Neuropathol Exp Neurol 79(5): 562-565.

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Glioblastoma (GBM) is the most aggressive adult brain tumor. While GBM typically occurs sporadically, familial GBM can be associated with certain hereditary disorders and isolated familial GBMs in the absence of syndrome are rare. Relevant hereditary factors have remained elusive in these cases. Understanding specific genetic abnormality may potentially lead to better treatment strategies in these patients. Here, we analyzed GBM tissue from our patient and 2 afflicted family members, with next generation sequencing to better understand the genetic alterations associated with this disease development. DNA was extracted and sequenced and the data were then analyzed. Results revealed 2 common mutations in afflicted family members; PDGFRA and HRAS. In addition, both siblings showed a mutation of the SMARCB1 gene. The sister of our patient exhibited a homozygous mutation, while our patient had heterozygous mutation of this gene in the tumor tissue. This result suggests that mutation of SMARCB1, either alone or in the presence of PDGFRA and HRAS mutations, is associated with earlier onset GBM.