RESUMO
Metaplastic breast carcinoma in neurofibromatosis type 1 is extremely rare. There are few reports about dynamic contrast-enhanced MRI findings and sequential CT findings of metaplastic breast carcinoma in neurofibromatosis type 1. Herein, we report imaging findings, including dynamic contrast-enhanced MRI and sequential CT, of metaplastic breast carcinoma in an 82-year-old woman with neurofibromatosis type 1. Short tau inversion recovery image revealed an oval mass with a circumscribed margin that exhibited moderate intensity with partially hyperintense area inside, and T1-weighted imaging revealed a spotty hyperintense area. The solid component of the mass showed heterogeneous enhancement and the time-intensity curve had a fast/washout pattern with restricted diffusion. In addition, multiple neurofibromas were observed. Sequential CT revealed that the diameter of the mass doubled in 3 months without apparent lymph node metastasis. Because detection of metaplastic breast carcinoma in neurofibromatosis type 1 tends to be delayed due to multiple neurofibromas, characteristic MRI findings suggestive of metaplastic breast carcinoma and sequential CT findings are important for early treatment of metaplastic breast carcinoma in patients with neurofibromatosis type 1.
RESUMO
A meningocele is a congenital neural tube defect, and the majority of the meningocele cases are identified perinatally. We present the case of a 67-year-old patient with a sacral meningocele undiagnosed until the removal of a symptomatic epidermal inclusion cyst adjacent to it. Cerebrospinal fluid leakage occurred due to an incision in an undiagnosed meningocele adjacent to the epidermal inclusion cyst. Repair of the cerebrospinal fluid leakage was performed successfully without any deficit. The present case underscores the importance of considering a meningocele as a differential diagnosis for a mass occurring in the midline of the back at any age.
RESUMO
Renal cell carcinoma unclassified with medullary phenotype (RCCU-MP) is a rare variant of renal medullary carcinoma (RMC) characterized by loss of SMARCB1 (INI1 / SNF5 / BAF47) protein expression in patients without sickle cell trait. Here, we report a case of RCCU-MP in a Japanese patient who had experienced colon cancer 13 years ago, gastric cancer 11 years ago and lung cancer 9 years ago and had received hemodialysis for 15 years. This is the first report of RCCU-MP in Japan. The patient was not of African descent, and did not have SCT or any other hereditary blood abnormality typical of RMC. The tumor was located in the left kidney, and was composed histologically of rhabdoid cells with marked lymphocyte infiltration; it was immunohistochemically negative for SMARCB1. We were, however, unable to detect mutation in the SMARCB1 gene, reduced messengerRNA expression, or deletion or translocation of chromosome 22, where the SMARCB1 gene is located. These results suggest that RCCU-MP may not involve the hemizygous loss of this gene noted in typical RMC cases.