Primary Pulmonary Myxoid Sarcoma with EWSR1::ATF1 Fusion: A Case Report

Abstract

Primary pulmonary myxoid sarcoma is a rare lung sarcoma, mostly involving the central lung and harboring the EWSR1::CREB1 fusion. We report an exceptional case of primary pulmonary myxoid sarcoma arising in the peripheral lung and harboring an EWSR1::ATF1 gene fusion. A 67-year-old man presented with a solid nodule in the right lower lobe, and wedge resection was performed. Microscopically, the tumor consisted of reticular proliferation of uniform mildly atypical spindle cells within abundant myxoid stroma. Immunohistochemically, smooth muscle actin was positive but desmin was negative. Fluorescence in situ hybridization confirmed EWSR1 and ATF1 gene rearrangements. No recurrence was seen for 12 months. Pathological findings and gene rearrangements are important for the diagnosis of primary pulmonary myxoid sarcoma. Complete resection and careful observation are required.

CT findings of a large primary pulmonary myxoid sarcoma: A case report

“…The prevalence of PPMS was comparable between female and male patients, with 19 females out of 38 cases reported [ 1 , 7 ]. The median age of the patient with PPMS was 44 years old, ranging from 23 to 80 years old [1] .…”

“…Patients with this tumor exhibited non-specific signs and symptoms, with several asymptomatic cases discovered upon medical screening [ 1 , 7 ]. Others presented with productive or unproductive cough, hemoptysis, dyspnea, and weight loss [ 1 , 7 ].…”

“…Patients with this tumor exhibited non-specific signs and symptoms, with several asymptomatic cases discovered upon medical screening [ 1 , 7 ]. Others presented with productive or unproductive cough, hemoptysis, dyspnea, and weight loss [ 1 , 7 ]. In our case, the patient was introduced with a cough, right chest heaviness, a history of bloody cough, exertional dyspnea, anorexia, and weight loss.…”

“…No immunohistochemical markers support the diagnosis of this tumor [ 7 , 11 ], although the majority express vimentin [ 6 , 11 ]. Nevertheless, other common markers are negative, particularly cytokeratins, S 100, smooth muscle actin, desmin, CD34, and neuroendocrine [6] .…”

“…Surgical excision available includes wedge resection, segment resection, lobectomy, and pneumonectomy, depending on the size of the tumor [1] . Fortunately, this neoplasm is classified as a low-grade malignancy; nonetheless, close follow-up is indispensable to detect further metastases or recurrence [ 1 , 3 , 7 ]. About 5 out of 39 reported patients with PPMS were found to have metastasis [ 1 , 7 ].…”