BACKGROUND SMARCB1/INI-1 deficient sinonasal carcinoma(SDSC)is a rare subset of sinonasal undifferentiated carcinoma with a poor prognosis.Here,we present two case reports of SDSC patients.We also review the literatur...BACKGROUND SMARCB1/INI-1 deficient sinonasal carcinoma(SDSC)is a rare subset of sinonasal undifferentiated carcinoma with a poor prognosis.Here,we present two case reports of SDSC patients.We also review the literature on this tumor.This is the first published report of SDSC treatment with immunotherapy.CASE SUMMARY Here we present two patient cases of SDSC in which initial consultation and diagnosis were complicated but SDSC was ultimately diagnosed.One patient received a traditional treatment of surgery and adjuvant chemoradiotherapy,while the other patient received additional immunotherapy;the prognoses of these two patients differed.We review previous diagnostic literature reports and SDSC treatments and provide a unique perspective on this rare type of tumor.CONCLUSION SDSC is a rare,diagnostically challenging carcinoma with a consistently poor prognosis,early distant metastases,and frequent recurrence.Timely diagnosis and intervention are critical for treatment,for which the standard of care is surgery followed by adjuvant chemoradiotherapy,though immunotherapy may be an effective new treatment for SDSC.展开更多
Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The ima...Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.展开更多
外阴肌上皮瘤样肿瘤(myoepithelioma-like tumour of the vulvar region,MELTVR)是一类罕见的SMARCB1/INI-1缺陷性软组织肿瘤,2015年由Yoshida等首次报道[1]。我们在工作中遇到1例阴阜MELTVR,对其进行了光镜及免疫组化观察并结合文献分...外阴肌上皮瘤样肿瘤(myoepithelioma-like tumour of the vulvar region,MELTVR)是一类罕见的SMARCB1/INI-1缺陷性软组织肿瘤,2015年由Yoshida等首次报道[1]。我们在工作中遇到1例阴阜MELTVR,对其进行了光镜及免疫组化观察并结合文献分析其临床病理特征,以加深对该肿瘤的认识。展开更多
文摘BACKGROUND SMARCB1/INI-1 deficient sinonasal carcinoma(SDSC)is a rare subset of sinonasal undifferentiated carcinoma with a poor prognosis.Here,we present two case reports of SDSC patients.We also review the literature on this tumor.This is the first published report of SDSC treatment with immunotherapy.CASE SUMMARY Here we present two patient cases of SDSC in which initial consultation and diagnosis were complicated but SDSC was ultimately diagnosed.One patient received a traditional treatment of surgery and adjuvant chemoradiotherapy,while the other patient received additional immunotherapy;the prognoses of these two patients differed.We review previous diagnostic literature reports and SDSC treatments and provide a unique perspective on this rare type of tumor.CONCLUSION SDSC is a rare,diagnostically challenging carcinoma with a consistently poor prognosis,early distant metastases,and frequent recurrence.Timely diagnosis and intervention are critical for treatment,for which the standard of care is surgery followed by adjuvant chemoradiotherapy,though immunotherapy may be an effective new treatment for SDSC.
文摘Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.
文摘外阴肌上皮瘤样肿瘤(myoepithelioma-like tumour of the vulvar region,MELTVR)是一类罕见的SMARCB1/INI-1缺陷性软组织肿瘤,2015年由Yoshida等首次报道[1]。我们在工作中遇到1例阴阜MELTVR,对其进行了光镜及免疫组化观察并结合文献分析其临床病理特征,以加深对该肿瘤的认识。
