Inflammatory myofibroblastic tumors of the skin and mucosal sites: A clinicopathological and molecular analysis of 3 cases with emphasis on differential diagnosis

Inflammatory myofibroblastic tumor (IMT) represents a distinct clinicopathologic entity within the spectrum of intermediate-grade mesenchymal neoplasms, historically characterized by a proliferation of myofibroblastic spindle cells accompanied by chronic inflammatory infiltrates and variable fibromyxoid stroma [[1], [2], [3], [4]]. While the majority of cases arise in visceral organs such as the lungs, abdomen, and pelvis, superficial presentations involving cutaneous and mucosal sites constitute a rare but diagnostically challenging subgroup [[5], [6], [7], [8], [9], [10], [11]]. Molecular studies have elucidated that approximately 70–80 % of IMTs harbor recurrent kinase gene fusions, most frequently involving ALK (50–70 % of cases), followed by ROS1, RET, NTRK3, and PDGFRB rearrangements [12,13]. The recognition of superficial IMTs has been complicated by their histologic overlap with a spectrum of both ALK-positive and ALK-negative soft tissue tumors. Emerging clinicopathological and molecular genetic evidence suggests that IMTs occurring in cutaneous and mucosal sites, particularly in the head and neck region, frequently demonstrate unusual histopathological features and distinctive molecular profiles that may lead to considerable diagnostic confusion [6,9]. Herein, we present three molecularly confirmed cases of ALK-rearranged superficial IMTs to further illustrate their broad clinicopathological and molecular genetic spectrum while emphasizing critical diagnostic considerations.

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