r each base from the aligned reads. Reads with multiple equal best placements were randomly assigned to one best-hit location. Sequencing depths exhibited a Poisson-like distribution with average depths of 69.706, 66.556 and 68.266, for the blood DNA, the imatinib-sensitive tumor, and the imatinib-resistant tumor, respectively. Results Case History A 46-year old woman presented at Samsung Medical Center with a paravertebral soft-tissue mass at the level of L34. She had been diagnosed four years ago with DFSP that had formed a subcutaneous lesion on the left thigh that was subsequently surgically resected. Three years later, the disease recurred in a paraspinal space at the level of L5S1, and she had received further surgery followed by postoperative radiotherapy to the surgical bed. At recurrence, she suffered from mild lower back pain and a tingling sensation in the left posterior thigh and the lateral calf area. Magnetic resonance imaging of the lumbar spine revealed a 4-cm, lobulated, enhancing soft-tissue mass in the left paravertebral muscle at the level of L34. A routine chest radiograph showed a nodular lesion in the right upper lung zone and a subsequent chest computed tomography scan showed multiple lung nodules with the largest one located in the RUL zone. Core biopsy of left back mass confirmed the presence of metastatic DFSP, and subsequently, a unique LY341495 chemical information translocation involving chromosomes 17 and 22 was found in the tumor cells. Hence, the patient was diagnosed with recurrent DFSP with multiple lung metastases that were not amenable to surgical resection. Accordingly, we started imatinib therapy at a dose of 400 mg per day, every day. After 4 months of this treatment, follow-up spine MRI and chest CT confirmed a partial response. After 6 months of imatinib treatment, however, the lung metastases and paraspinal mass were found increased in size, suggesting that the tumors had developed resistance to imatinib. 
At this point, the dose of imatinib was increased to 800 mg per day, every day. After a further 3 months treatment with this higher dose, the paraspinal mass was found to have grown larger with direct invasion to the L5S1 neural foramen. A chest CT scan also showed progressive disease with increased RUL nodule size. At this time, after a thorough discussion 8901831 title=’View abstract’ target=’resource_window’>14557281 with the patient and obtaining written informed consent, we re-biopsied the imatinib-resistant paraspinal mass under CT guidance. The tumor content of the biopsy was found to be over 80% based on pathologic examination by pathologist YRC. DNA was extracted from both this specimen and from the original paraspinal mass, which was sensitive to imatinib, and whole genome sequencing was performed. At this time, the patient was treated with doxorubicin-ifosfamide chemotherapy, sunitinib, and pazopanib, sequentially. The patient did not respond to any of these subsequent regimens and had a rapidly deteriorating clinical course mainly due to progression to leptomeningeal metastases spread from the paraspinal mass. Unfortunately, the patient died of disease progression. Variation Detection and Annotation 1) SNP. We used SAMtools to detect SNPs, and ANNOVAR for their annotation and classification. A statistical analysis of the SNP distribution was performed to evaluate the number of SNPs located in different gene regions. 2) SNV. Previously, Varscan software has mainly been used to identify tumor-specific somatic substitutions by comparing tumor and normal tissue in pairs. Here,
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