Search

A 9-year-old girl presented with a subcutaneous mass on her right forearm that had been present for a year. The mass had initially developed after a mosquito bite and caused itching and enlargement. Topical treatments were ineffective, so a biopsy was performed. The histopathological examination revealed a fibroblastic connective tissue nevus (FCTN), a benign neoplasm of fibroblastic and myofibroblastic origin. The patient underwent excisional removal of the nevus and has not experienced recurrence since. FCTN is a rare condition that typically presents as a slow-growing plaque or nodule on the head, neck, or trunk in children. It is more common in females and is characterized by a proliferation of spindle cells without cytologic atypia or mitotic activity. It can be mistaken for dermatofibrosarcoma protuberans (DFSP), a locally aggressive soft tissue sarcoma, but DFSP has distinct histological features and a higher risk of recurrence. Other differential diagnoses include dermatomyofibromas (DMF) and fibrous hamartoma of infancy. Treatment for FCTN involves local excision, which is associated with a good prognosis and low risk of recurrence. [Extracted from the article]

Background The clinical impact of addressing potential germline alterations from tumor-only next-generation sequencing (NGS) is not well characterized. Current guidelines for cancer genetic testing may miss clinically actionable germline changes, which may have important implications for cancer screening, treatment, and prevention. We examined whether increasing involvement of the clinical genetics service during somatic tumor-only NGS review at Molecular Tumor Board (MTB) increases the detection of germline findings. Methods In a retrospective evaluation of patients who underwent tumor-only NGS and were reviewed at MTB, we quantified genetic counseling (GC) referrals as well as germline testing uptake and results across three cohorts: before (C1) and after (C2) the addition of tumor-only NGS review and after (C3) instituting a formal process to coordinate NGS-based genetics referrals to preexisting oncology appointments. All statistical tests were two-sided. Results From 2013 to 2017, 907 tumor-only NGS reports were reviewed at MTB (nC1 = 281, nC2 = 493, nC3 = 133); gastrointestinal (22.5%), lung (19.7%), genitourinary (14.8%), and breast (14.1%) were the most common index cancers. GC visits due to MTB increased with each successive cohort (C1 = 1.1%, C2 = 6.9%, C3 = 13.5%; P for trend [ P trend] <.001), as did germline testing (C1 = 0.7%, C2 = 3.2%, C3 = 11.3%; P trend <.001). Diagnosis of germline pathogenic variants increased with each successive cohort (C1 = 1.4%, C2 = 2.0%, C3 = 7.5%; P trend =.003) and with germline pathogenic variants found by MTB review (C1 = 0.4%, C2 = 0.4%, C3 = 2.3%; P trend =.12). Conclusions Both review of tumor-only NGS by genetics and the institution of a process coordinating GC with oncology appointments increased the discovery of germline pathogenic variants from tumor-only NGS testing. Furthermore, this process identified germline pathogenic variant carriers who would not have otherwise met standard criteria for germline testing. [ABSTRACT FROM AUTHOR]

Purpose: Precision oncology is widely discussed, but cohort studies are limited. We previously reported our prospective experience of precision oncology in solid tumors, and here we report our longitudinal experience, focusing on therapeutic impact. Patients and Methods: We conducted a retrospective review of 600 consecutive patients seen at Cleveland Clinic from 2013 to 2016 for treatment of incurable solid tumor malignancies for whom tumor genomic profiling was ordered using FoundationOne (Cambridge, MA). Results were discussed at our multidisciplinary genomics tumor board. Data analyzed included subsequent therapy and overall survival (OS). Results: Median age was 59 years (range, 18 to 94 years), 308 (51.3%) were female, and 533 (88.8%) were white. Targeted therapy was recommended in 310 patients (51.7%). After results, 313 patients (52.2%) started any subsequent therapy; of these, 95 (30%; 15.8% overall) received genomics-driven therapy (G), and 218 (70%) received non–genomics-driven treatment (NG). For the G versus NG group, the on-label, off-label, and clinical trial therapy breakdowns were 23% versus 88%, 47% versus 3%, and 30% versus 9%, respectively. Median OS for patients receiving no therapy after tumor genomic profiling was 5.5 months; for the G and NG groups, it was 18 (P <.001) and 14.4 (P <.001) months, respectively (P = NS for G v NG). The use of G increased from 10% in the first 250-patient cohort (reported earlier) to 20% in the subsequent 350-patient cohort. Conclusion: Tumor genomic profiling influenced treatment in 15.8% of patients. More patients received treatment via clinical trials in the G cohort, and although not statistically significant, there was a trend toward increased OS in the G (v NG) group. These data can further guide real-world applications of precision oncology. [ABSTRACT FROM AUTHOR]