SESSION TITLE: Cancer Global Case Reports
SESSION TYPE: Global Case Report
PRESENTED ON: Tuesday, October 28, 2014 at 01:30 PM - 02:30 PM
INTRODUCTION: The frequency of EML4-ALK fusion gene is approximately 6.7% in NSCLC 1, but little case was reported in sarconmatoid carcinoma of the lung (PSC). Here, we focus on the clinical and molecular feature of a PSC patient with EML4-ALK fusion gene.
CASE PRESENTATION: A 63-year-old man with a non-smoking history visited our hospital because of chest tightness for 1 week. Chest X-ray showed an abnormal shadow in the right upper field, and a Computed tomography (CT) of the chest revealed an irregular nodule in the upper lobe of right lung. Physical examination revealed no significant abnormalities. Head MRI, isotope bone scan and bronchoscopy were normal. Laboratory findings were within normal range. Abdominal ultrasound showed multiple hepatic cysts. No lymph nodes invasion was found. The patient underwent thoracoscopic lobectomy of the right upper lobe after excluding surgical contraindication. The pathological diagnosis was pulmonary sarcomatoid carcinoma, and invading the lung pleura (pT3N0M0Ⅱb).We conducted biopsy specimen to check EGFR, KRAS, BRAF mutations and EML4-ALK fusion genes by Fluorescence polymerase chain reaction technique (Fluorescence-PCR). The tumor did not harbor the EGFR, KRAS and BRAF mutations, while EML4 -ALK fusion genes was detected by Fluorescence-PCR method. The patient was recovering well and discharged one week later after surgery.
DISCUSSION: The fusion of the anaplastic lymphoma kinase (ALK) with the echinoderm microtubule-associated protein-like 4 (EML4) in NSCLC was identified in 2007. EML4-ALK fusion gene arises as a result of an inversion in chromosome 2 that juxtaposed the 5 end of the EML4 gene with the 3 end of the ALK gene. The frequency of the fusion gene is approximately 6.7% in NSCLC1 and predicts response to the targeted inhibitor crizotinib. The clinical features of lung cancer that harbors EML4-ALK fusion gene include light or never smokers, younger age, adenocarcinomas with acinar pattern or signet ring adenocarcinoma, and a lack of EGFR or KRAS mutations2. In this report, we described a lung sarcomatoid carcinoma harboring ALK translocation, in a non-smoking patient, and the tumor was in the right upper of the lung. ALK translocation was detected by Fluorescence-PCR for variants 1. We reviewed the literature for EML4-ALK rearrangements in PSC and found only one case similar 3. So, to the best of our knowledge, this is the second report concerning the presence of the EML4-ALK fusion gene in a sarcomatoid carcinoma of the lung. Pulmonary sarcomatoid carcinoma is a rare and deadly family of NSCLC encompassing ﬁve different histological subtypes: pleomorphic carcinoma, carcinosarcoma, giant cell carcinoma, spindle cell carcinoma, and pulmonary blastoma. Genetic alterations suitable for targeted therapy are poorly known issues in this type of NSCLC. It’s urgent need to identify new therapeutic targets and to expand the role of novel targeted agents in the sarcomatoid carcinoma of lung
CONCLUSIONS: In this report, a pulmonary sarcomatoid carcinoma patient was detected harboring EML4-ALK fusion gene. Now, the tumor was resected completely, and the patient recovered well. The finding of this case is very important; it may be a novel target therapy for pulmonary sarcomatoid carcinoma patient whose tumor can’t be complete resection.
Reference #1: Soda M, Choi YL, Enomoto M, et al. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature 2007; 448:561-566
Reference #2: Shaw AT, Yeap BY, Mino-Kenudson M, et al. Clinical features and outcome of patients with non-small-cell lung cancer who harbor EML4-ALK. J Clin Oncol 2009; 27:4247-4253
Reference #3: Ali G, Proietti A, Niccoli C, et al. EML4-ALK translocation in both metachronous second primary lung sarcomatoid carcinoma and lung adenocarcinoma: A case report. Lung Cancer 2013; 81:297-301
DISCLOSURE: The following authors have nothing to disclose: Xiao Song, Yang Yang, Junjie Zhu, Jianfang Xu
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