ABSTRACT
Development of molecular technology has led to the expansion of next generation sequencing (NGS) in area of diagnostic pathology. Here we present a case in which a lung tumor, which resembled an atypical carcinoid tumor, was revealed as metastatic breast cancer by next generation sequencing. A 50-year-old female, who had received modified radical mastectomy for breast cancer, presented with a 2.1 cm sized lung mass. The mass was well-defined, well-enhanced, and showed endobronchial component by computed tomography. Under the impression of carcinoid tumor, right upper lobectomy was performed. Tumor cells were immunohistochemically positive for chromogranin and CD56, but negative for cytokeratin 7 and GCDFP-15. Initially, the patient was diagnosed with atypical carcinoid tumor. However, subsequent NGS test revealed GATA3 mutation (p.Ala333fs) of the lung tumor. After a thorough review of literature and public cancer genome data about GATA3 mutation, the diagnosis was revised to metastatic invasive carcinoma from breast.
Subject(s)
Breast Neoplasms/diagnosis , Breast Neoplasms/pathology , Carcinoid Tumor/diagnosis , Lung Neoplasms/diagnosis , Lung Neoplasms/secondary , Breast Neoplasms/genetics , Diagnosis, Differential , Female , GATA3 Transcription Factor/genetics , High-Throughput Nucleotide Sequencing , Humans , Lung Neoplasms/genetics , Middle Aged , MutationABSTRACT
BACKGROUND: Cyclooxygenase-2 (COX-2) contributes to invasiveness of cancer through activation of several matrix metalloproteinases (MMPs). Matrix metalloproteinase-2 (MMP-2) is a proteolytic enzyme that degrades the extracellular matrix, and has been linked to invasion and metastasis. This study aims to assess the correlation of the COX-2 expression and the MMP-2 expression in patients with non-small cell lung cancer (NSCLC). METHODS: We analyzed the protein expressions of COX-2 and MMP-2 by immunohistochemical staining on the tissue array specimens from 204 patients with completely resected NSCLC. A <10% immunostaining of the cancer cells was considered negative, while >10% was considered positive. RESULTS: The COX-2 expression was positive in 68.1% and that of the MMP-2 was positive in 45.6%. The positive expression rate of MMP-2 (52.5%) in the positive COX-2 group was higher than that in the negative COX-2 group (30.8%, P = 0.004). Furthermore, the MMP-2 expression was associated with lymph node involvement, the tumor stage and the histological type. The patients with a positive MMP-2 expression showed a reduced survival (P = 0.048). CONCLUSIONS: The COX-2 expression is associated with the MMP-2 expression in NSCLC patients: the latter may also be associated with tumor progression and reduced survival in NSCLC patients.
