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Clinical Panels

Patient’s Case Study


Seeking potential therapeutic options, a 48-year-old female patient of non-small cell lung cancer with multiple lymph node metastases in China underwent a biopsy which was then sent to our lab for analysis with NovoPM. A rare somatic mutation was discovered for which there was a CFDA-approved targeted therapy. The patient responded well to this treatment with significantly extended survival and higher life quality (see details in “Clinical Outcomes” below). This case demonstrated the tremendous clinical value of comprehensive genomic analysis with a large panel like NovoPM, especially in cancer patients who have exhausted other treatment options.

Figure. Computed tomography and positron emission tomography images of the right lower lobe of the patient. A: mediastinum, upper and lower bilateral clavicle area, left armpit, and lung lymph node metastases at treatment initiation (March 2016). B: most lesions had shrunk significantly 2 months after Crizotinib treatment (May 2016). C: the metastatic lymph nodes had disappeared, with the metabolism returning to normal 11 months after Crizotinib treatment (February 2017).

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Diagnostic Details

  • Diagnostic Result:
    Novel ROS1 fusion (SLC34A2-ROS1, chr6:117653720 – chr4:25678781)
  • Variant Summary:
    The SLC34A2-ROS1 fusion variant is a common ROS1 fusion in NSCLC accounting for the second highest ROS1 fusion prevalence in NSCLC 1, 2. It is likely generated from an intra-chromosomal deletion and fusion. The novel SLC34A2-ROS1 fusion variant (chr6:117653720 – chr4:25678781, 3′UTR of SLC34A2 in exon 13 was disrupted and inverted to connect a position of intronic_e32_e31 of ROS1) had never been reported before.
  • Relevant Therapy:
  • Drug Detail:
    Crizotinib has been approved by FDA for the treatment of advanced metastatic NSCLC with ROS1 or ALK rearrangements. In the Phase I clinical trial of crizotinib, 50 NSCLC patients with ROS1 fusion were enrolled, including 49 cases detected by FISH and 1 by reverse transcriptase-polymerase chain reaction (RT-PCR). The overall response rate (ORR) was 72%, with a median duration of response (DOR) of 17.6 months and a median progression-free survival (PFS) of 19.2 months.

Patient Information

Age: 48
Cancer type: Non small cell lung cancer (NSCLC)
Sample Type: Tissue Biopsy