Inflammatory myofibroblastic tumor (IMT) is an uncommon mesenchymal neoplasm composed of spindle-shaped fibroblastic or myofibroblastic cells accompanied by a variable chronic inflammatory infiltrate, most commonly plasma cells and lymphocytes, with occasional eosinophils and mast cells1,2. According to the latest World Health Organization (WHO) classification, IMT is recognized as a tumor of intermediate biological potential rather than a purely reactive inflammatory lesion3. In the 2002 WHO classification of soft-tissue tumors, the term ‘inflammatory myofibroblastic tumor’ was formally adopted, and the tumor was categorized among fibroblastic and myofibroblastic tumors with rare metastatic potential4.
Inflammatory myofibroblastic tumor has a broad anatomic distribution and has been reported in the thoracopulmonary region, abdominal cavity, gastrointestinal tract, urinary system, and other sites5. Although IMT is reported more frequently in children and young adults, its age distribution varies by anatomic location, and adult or older patients should not be excluded from consideration solely based on age6. Pulmonary IMT represents a small proportion of lung tumors, but it is relatively more frequently encountered among benign lung tumors in children7,8. In the gastrointestinal tract, IMT most often involves the small intestine and colon9. In the urinary system, the bladder is the most commonly affected organ, with cases described in both pediatric and adult patients10,11,12. Head and neck IMT accounts for approximately 15%–25% of all IMT cases and can occur across a wide age range without a consistent sex predilection13,14. By contrast, primary IMT of the anterior mediastinum is exceptionally rare. In this location, IMT may clinically and radiologically mimic more common anterior mediastinal tumors, including thymoma, thymic carcinoma, lymphoma, germ cell tumor, and neuroendocrine neoplasm.
The clinical manifestations and imaging features of IMT are nonspecific, which may lead to misdiagnosis or delayed treatment, particularly when the tumor arises in an unusual site. Accurate diagnosis usually requires integrating clinical findings, multimodal imaging, histopathological morphology, immunohistochemistry, and, when available, molecular testing. This is especially relevant for anaplastic lymphoma kinase (ALK)-negative IMT because ALK negativity does not exclude IMT and may warrant consideration of alternative molecular alterations in selected cases. Complete surgical resection remains the preferred treatment for resectable, localized disease; however, the prognosis should be interpreted cautiously, as local recurrence can occur and long-term surveillance is required. This article reports a rare case of ALK-negative primary anterior mediastinal IMT in a 68-year-old male patient, highlighting the need to consider IMT in the differential diagnosis of anterior mediastinal masses in older patients and the importance of integrating imaging, histopathology, immunohistochemistry, and molecular considerations when evaluating ALK-negative spindle-cell lesions.
Case presentation:
A 68-year-old male patient presented to the hospital on March 4, 2022, after an anterior mediastinal mass was incidentally detected during a routine health examination 1 week earlier. The patient was asymptomatic at presentation. Past medical and family histories of the patient were unremarkable. On admission, a physical examination revealed bibasilar crackles; no other significant signs were noted.
Diagnosis, assessment, and plan:
Initial contrast-enhanced chest computed tomography (CT) revealed an anterior mediastinal mass, prompting further evaluation. Tumor markers showed mildly elevated CA125 (42.25 U/mL) and neuron-specific enolase (NSE; 31.85 ng/mL). Routine blood tests, liver function, routine biochemistry, coagulation profile with D-dimer, arterial blood gas analysis, and T-SPOT.TB assay and antinuclear antibody testing were unremarkable. Enhanced chest CT (Figure 1A–D) demonstrated a large anterior mediastinal soft-tissue mass (6.6 × 3.6 cm) with homogeneous density. Heterogeneous enhancement was observed, with peripheral delayed enhancement and central hypoenhancement, suggesting heterogeneous vascularity. The lesion showed an indistinct interface with adjacent pericardial structures, suggesting local adhesion or possible invasion. Chest-enhanced magnetic resonance imaging (MRI) (Figure 2A–D) revealed an iso- to slightly hyperintense T2 signal lesion with restricted diffusion on diffusion-weighted imaging, consistent with high tumor cellularity. Dynamic enhancement showed venous-phase hyperenhancement with signal heterogeneity, compatible with a hypervascular tumor. The poor demarcation between the pericardium and the anterior pleura further supported the possibility of local adhesion or infiltration. Cardiac ultrasonography (Figure 3) identified a well-circumscribed hypoechoic mass (58 × 33 mm) anterior to the right ventricle, correlating with the mediastinal lesion on CT/MRI. Multidisciplinary consultation involving thoracic surgery, radiology, oncology, and cardiac surgery departments concluded that the imaging findings, including an anterior mediastinal hypervascular mass with pericardial adhesion and diffusion restriction, raised concern for a malignant anterior mediastinal tumor, particularly thymoma or thymic carcinoma; lymphoma, germ cell tumor, and neuroendocrine neoplasm were also considered in the differential diagnosis. Surgical resection was recommended for definitive diagnosis and treatment.