SMARCB1-Deficient Pulmonary Mesenchymal Tumor Without Malignant Histological Features

Complete loss of nuclear SMARCB1 expression was originally described as a hallmark of malignant rhabdoid tumors, typically occurring in the kidney, soft tissue, and central nervous system (CNS). Generally, SMARCB1 deficiency is associated with malignant histopathological appearance, except for some rare tumors. Herein, we present a case of hitherto undescribed SMARCB1-deficient pulmonary mesenchymal tumor without rhabdoid features or malignant histopathology involving a 62-year-old male patient. Histologically, the tumor demonstrated a moderately cellular proliferation of monomorphic spindle cells arranged in short fascicles or a storiform pattern with intervening collagenous stroma. The mitotic activity was lower than that of typical SMARCB1-deficient tumors, and rhabdoid features and necrosis were absent. Nuclear SMARCB1 expression was lost, and a part of SMARCB1 was revealed to be homozygously deleted. DNA methylation analysis demonstrated that this case was not clustered with other well-known SMARCB1-deficient tumors.