BACKGROUND Cellular myofibroma is a rare subtype of myofibroma that was first described in 2017.Its diagnosis is often challenging because of its relative rarity,lack of known genetic abnormalities,and expression of m...BACKGROUND Cellular myofibroma is a rare subtype of myofibroma that was first described in 2017.Its diagnosis is often challenging because of its relative rarity,lack of known genetic abnormalities,and expression of muscle markers that can be confused with sarcomas that have myogenic differentiation.Currently,scholars have limited knowledge of this disease,and published cases are few.Further accumulation of diagnostic and treatment experiences is required.CASE SUMMARY A 16-year-old girl experienced left upper limb swelling for 3 years.She sought medical attention at a local hospital 10 months ago,where magnetic resonance imaging revealed a 5-cm soft tissue mass.Needle biopsy performed at a local hospital resulted in the diagnosis of a spindle cell soft tissue sarcoma.The patient was referred to our hospital for limb salvage surgery with endoprosthetic replacement.She was initially diagnosed with a synovial sarcoma.Consequently,clinical management with chemotherapy was continued for the malignant sarcoma.Our pathology department also performed fluorescence in situ hybridization for result validation,which returned negative for SS18 gene breaks,indicating that it was not a synovial sarcoma.Next-generation sequencing was used to identify the SRF-RELA rearrangement.The final pathological diagnosis was a cellular/myofibroblastic neoplasm with an SRF-RELA gene fusion.The patient had initially received two courses of chemotherapy;however,chemotherapy was discontinued after the final diagnosis.CONCLUSION This case was misdiagnosed because of its rare occurrence,benign biological behavior,and pathological similarity to soft tissue sarcoma.展开更多
Inflammatory myofibroblastic tumor (INT) of the stomach in adults is extremely rare, with unpredictable prognosis. We present a 55-year-old woman with a gastric IMT. She experienced sudden abdominal pain 4 d previou...Inflammatory myofibroblastic tumor (INT) of the stomach in adults is extremely rare, with unpredictable prognosis. We present a 55-year-old woman with a gastric IMT. She experienced sudden abdominal pain 4 d previously. Physical examination showed mild abdominal tenderness in the hypogastrium, but no palpable abnormal abdominal mass. Abdominal CT showed a mass of approximately 8 cm in the gastrocolic ligament. On laparoscopic exploration, unexpected hemoperitoneum of approximately 1.5 L of blood was found, and an exophytic gastric mass of approximately 10 cm, appeared from the anterior wall of the gastric body along the greater curvature. Laparoscopy further showed that non- clotting blood in the abdominal cavity seemed to be from the gastric tumor. After conversion to open surgery for more precise evaluation of the cause of hemoperitoneum and the large friable tumor, gastric wedge resection, including the tumor, was conducted. The final diagnosis was consistent with IMT that originated from the gastric wall.展开更多
文摘BACKGROUND Cellular myofibroma is a rare subtype of myofibroma that was first described in 2017.Its diagnosis is often challenging because of its relative rarity,lack of known genetic abnormalities,and expression of muscle markers that can be confused with sarcomas that have myogenic differentiation.Currently,scholars have limited knowledge of this disease,and published cases are few.Further accumulation of diagnostic and treatment experiences is required.CASE SUMMARY A 16-year-old girl experienced left upper limb swelling for 3 years.She sought medical attention at a local hospital 10 months ago,where magnetic resonance imaging revealed a 5-cm soft tissue mass.Needle biopsy performed at a local hospital resulted in the diagnosis of a spindle cell soft tissue sarcoma.The patient was referred to our hospital for limb salvage surgery with endoprosthetic replacement.She was initially diagnosed with a synovial sarcoma.Consequently,clinical management with chemotherapy was continued for the malignant sarcoma.Our pathology department also performed fluorescence in situ hybridization for result validation,which returned negative for SS18 gene breaks,indicating that it was not a synovial sarcoma.Next-generation sequencing was used to identify the SRF-RELA rearrangement.The final pathological diagnosis was a cellular/myofibroblastic neoplasm with an SRF-RELA gene fusion.The patient had initially received two courses of chemotherapy;however,chemotherapy was discontinued after the final diagnosis.CONCLUSION This case was misdiagnosed because of its rare occurrence,benign biological behavior,and pathological similarity to soft tissue sarcoma.
文摘Inflammatory myofibroblastic tumor (INT) of the stomach in adults is extremely rare, with unpredictable prognosis. We present a 55-year-old woman with a gastric IMT. She experienced sudden abdominal pain 4 d previously. Physical examination showed mild abdominal tenderness in the hypogastrium, but no palpable abnormal abdominal mass. Abdominal CT showed a mass of approximately 8 cm in the gastrocolic ligament. On laparoscopic exploration, unexpected hemoperitoneum of approximately 1.5 L of blood was found, and an exophytic gastric mass of approximately 10 cm, appeared from the anterior wall of the gastric body along the greater curvature. Laparoscopy further showed that non- clotting blood in the abdominal cavity seemed to be from the gastric tumor. After conversion to open surgery for more precise evaluation of the cause of hemoperitoneum and the large friable tumor, gastric wedge resection, including the tumor, was conducted. The final diagnosis was consistent with IMT that originated from the gastric wall.