Project description:BACKGROUND:Patients with rare tumors may lack approved treatments and clinical trial access. Although each rare tumor is uncommon, cumulatively they account for approximately 25% of cancers. We recently initiated a Rare Tumor Clinic that emphasized a precision medicine strategy. MATERIALS AND METHODS:We investigated the first 40 patients presenting at the Rare Tumor Clinic. Next-generation sequencing (NGS) of tissue and plasma-derived, circulating-tumor DNA (ctDNA), and protein markers were assessed. RESULTS:Median age was 58 years (range, 31-78 years); 70% (28/40) were women; median number of previous systemic therapies was 2 (range 0-7). The most common diagnoses were sarcoma (n?=?7) for solid tumors and Erdheim-Chester disease (n?=?5) for hematologic malignancies. Twenty distinct diagnoses were seen. Examples of ultrarare tumors included ameloblastoma, yolk sac liver tumor, ampullary cancer, and Castleman's disease. Altogether, 32 of 33 patients (97%) with tissue NGS and 15 of 33 (45%) with ctDNA sequencing harbored ?1 alteration. Overall, 92.5% of patients (37/40) had ?1 actionable target based on either genomic (n?=?32) or protein (n?=?27) markers. In total, 52.5% (21/40) received matched therapy; 52.4% (11/21) achieved stable disease (SD) ?6 months (n?=?3), partial remission (PR; n?=?6), or complete remission (CR; n?=?2). Matched therapy resulted in significantly longer progression-free survival compared with last prior unmatched therapy (hazard ratio 0.26, 95% confidence interval 0.10-0.71, p?=?.008). CONCLUSION:Identifying genomic and protein markers in patients with rare/ultrarare tumors was feasible. When therapies were matched, >50% of patients attained SD ?6 months, PR, or CR. Further precision medicine clinical investigations focusing on rare and ultrarare tumors are urgently needed. IMPLICATIONS FOR PRACTICE:Although rare tumors are infrequent by definition, when all subtypes of rare cancers are combined, they account for approximately 25% of adult malignancies. However, patients with rare tumors may lack approved treatments and clinical trial access. This paper describes an institutional a Rare Tumor Clinic focused on a precision medicine strategy. Performing genomics and protein analyses was feasible amongst patients with rare cancers. Over 50% of patients attained SD ?6 months, PR, or CR when they received matched therapy (genomically targeted and/or immunotherapy). Further studies investigating the efficacy of the precision therapy approach among rare tumors are warranted.

Project description:BackgroundLumps and soft tissue tumors (STT) are frequent reasons for consulting a physician. Most STT are benign, and lumps are not always associated with a tumor. MRI is the most advanced imaging modality to assist a provisional diagnosis of STT. Only a small fraction of STT is malignant, these soft tissue sarcomas are known for their aggressive growth. The study aims to analyze the influence of the MRI report on the speed of treatment of patients with suspected STT.MethodsThis was a retrospective, longitudinal, single-center study from 2011-2020. We included adult patients who had biopsies or resections of masses suspicious for STT in MRI exams. MRI reports were classified as benign (I), intermediate/unclear (II), or malignant (III). For these cohorts, time was statistically analyzed from MRI scan to first contact with the University cancer center (UCC) and surgery. Furthermore, distance in kilometers from the patients´ home to the UCC was examined and compared to age and suspected malignancy.ResultsThree hundred two patients (♀130; ♂172) were included. Histologic analyses revealed 286 tumors. The average age of the patients was 54.7(SD: 16.2) years. Malignant tumors were more often suspected in older patients (p = 0.0098). Patients with a benign diagnosed tumor in MRI contacted the UCC after an average of 31.3 (SD: 47.8) days. In contrast, patients with suspicion of a malignant tumor contacted the UCC significantly earlier, after 14.1 days (SD: 17.1); p = 0.0098. Likewise, the time between first contact and biopsy/resection was 32.8 days (SD: 35.7) for suspiciously benign tumors, and potentially malignant tumors were treated significantly faster 14.8 (SD: 16.0) days; (p = 0.028). Patients traveled on average 47.5 km (range: 0.5-483) to contact a specialized physician at the UCC. Suspected degree of malignancy or patient´s age had no statistical influence on traveled distance.DiscussionThe treatment speed depended to a great extent on the suspected malignancy of the STT in the MRI report. The provisional diagnoses from the radiologist highly influenced the time delay between MRI scan and first contact to the UCC and surgical treatment. No discrimination of age or distance to the UCC was observed in this study.

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University Clinic Erlangen/ German Cancer Research Center rare tumors data access committee

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