ALK , ROS 1 and NTRK 3 gene rearrangements in inflammatory myofibroblastic tumours
2015; Wiley; Volume: 69; Issue: 1 Linguagem: Inglês
10.1111/his.12910
ISSN1365-2559
AutoresHidetaka Yamamoto, Akihiko Yoshida, Kenichi Taguchi, Kenichi Kohashi, Yui Hatanaka, Atsushi Yamashita, Daisuke Mori, Yoshinao Oda,
Tópico(s)Soft tissue tumor case studies
ResumoAims The aim of this study was to elucidate the pathological features of inflammatory myofibroblastic tumour ( IMT ) with gene rearrangement other than ALK . Methods and results We investigated anaplastic lymphoma kinase ( ALK ), ROS 1, ETV 6, NTRK 3 and RET in 36 cases of IMT by using immunohistochemical ( IHC ) staining, fluorescence in‐situ hybridization, and reverse transcription polymerase chain reaction ( RT ‐ PCR ). IHC staining showed ALK and ROS 1 to be positive in 22 of 36 (61.1%) and two of 36 (5.6%) cases, respectively. In one case with ROS 1 positivity, IHC staining showed cytoplasmic and dot‐like ROS 1 expression, and RT ‐ PCR showed the presence of the TFG – ROS 1 fusion transcript. Two cases of pulmonary IMT , in a 7‐year‐old patient and a 23‐year‐old patient, had ETV 6 rearrangement, and the presence of the ETV 6– NTRK 3 fusion transcript was confirmed in one case. These tumours were composed of hypocellular myxoid areas and highly cellular areas with rich plasmacytic infiltration; the histological features were different from those of infantile fibrosarcoma. RET rearrangement was not detected. Conclusions These results suggest that a subset of ALK ‐negative IMT s have rearrangement of ROS 1 , ETV 6 or NTRK 3 as a possible oncogenic mechanism, and that the detection of these alterations may be of diagnostic value and helpful for determining promising therapeutic strategies.
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