A novel LRRFIP1-ALK fusion in inflammatory myofibroblastic tumor of hip and response to crizotinib
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SHORT REPORT
A novel LRRFIP1-ALK fusion in inflammatory myofibroblastic tumor of hip and response to crizotinib Weifeng Liu 1,2 & Qianqian Duan 3 & Lihua Gong 4 & Yongkun Yang 1 & Zhen Huang 1 & Hao Guo 3 & Xiaohui Niu 1 Received: 11 May 2020 / Accepted: 6 August 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Summary An inflammatory myofibroblastic tumor (IMT) is a rare invasive soft tissue mass with intramuscular penetration that is primarily treated via a surgical procedure. However, with unclear boundaries and a high rate of relapse, there is no standard treatment for recurrence or unresectable tumors. It is noteworthy that approximately half of IMTs harbor genetic rearrangements of the anaplastic lymphoma kinase (ALK). ALK inhibitors have been used successfully in the treatment of IMTs with a variety of ALK fusions. Here, we present a case of a 15-year-old patient with IMT around the hip. Next-generation sequencing (NGS) revealed an LRRFIP1-ALK fusion, which has not yet been reported in the literature. Crizotinib, an ALK inhibitor, was effective in the treatment of this patient, indicating that ALK inhibitors may be effective for IMT with LRRFIP1-ALK fusions. This report expands the list of gene fusions in IMTs and highlights a new target for treatment. Keywords LRRFIP1-ALK fusion . Inflammatory myofibroblastic tumor . Novel target . Crizotinib
Introduction Inflammatory myofibroblastic tumors (IMTs) are rare neoplasms characterized by spindle cell proliferation with inflammatory infiltrate. IMTs can occur at any anatomic site but most frequently appear in the lung, abdomen, or pelvis of children and young adults [1]. Symptoms of IMT are usually restricted to the involved organ; however, 15–30% of patients present with malaise, fever, microcytic anemia, weight loss, thrombocytosis, elevated erythrocyte sedimentation rate, or polyclonal hypergammaglobulinemia [2]. Based on its inherent characteristics of local recurrence and rare metastases, IMT is Weifeng Liu and Qianqian Duan contributed equally to this work. * Xiaohui Niu [email protected]
defined as a mesenchymal neoplasm of intermediate biological potential. Surgery is the primary management for patients with localized IMT, though there is no standard treatment for patients with advanced and/or unresectable IMT [3]. At the molecular level, gene fusion is an important characteristic of IMT and a common molecular feature of soft tissue sarcoma. Approximately 50% of IMTs carry a chromosomal rearrangement of ALK and elevated expression of its protein level [4]. Such chromosomal translocation produces ALK fusion oncoproteins, which possess potential oncogenic functions. These proteins contribute to the pathogenesis of various hematological malignancies and solid tumors [5]. Some publications have described fusions of ALK with TPM3, TPM4, CLTC, RANBP2, SEC31L1, CARS, ATIC, ATIC, FN1, EML4, PRKAR1A and LMNA [6–9]. It has also been shown that ALK inhibitors have certain therapeutic effects on adults and pediatric patients [10]. This r
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