ABSTRACT
PURPOSE: Atypical teratoid/rhabdoid tumour (AT/RT) is a highly malignant central nervous system tumour of early childhood. According to the latest WHO classification, the diagnosis of AT/RTs needs to be confirmed by the absence of SMARCB1 (INI1) or SMARCA4 (BRG1) protein expression. AT/RT in the pineal region is infrequent and most have not been proven genetically. Here, we report a case of AT/RT in the pineal region, preoperatively misdiagnosed as a meningioma. Immunohistochemistry revealed the absence of INI1 protein expression. METHOD: A 29-month-old boy was admitted to the hospital after 14 days of emotional apathy and a 2-day vomiting history. AT/RT was not considered during the initial diagnosis because this tumour is rare in this region and is often accompanied by cystic degeneration and necrosis on imaging. Subsequently, the patient underwent surgery and the tumour was completely excised. RESULT: The pathological diagnosis was AT/RT. After discharge, the patient continued chemotherapy in other hospitals but died five months after surgery because of disease progression. CONCLUSION: To our knowledge, this is the fifth case of paediatric pineal AT/RT confirmed genetically. Although in children AT/RT in the pineal gland is rare, a differential diagnosis of AT/RT should be considered when new pineal masses appear in children. For this highly malignant disease with poor prognosis, it is very important to detect and recognize the disease as soon as possible, and to adopt surgery plus multiple treatment management.
Subject(s)
Brain Neoplasms , Central Nervous System Neoplasms , Meningeal Neoplasms , Meningioma , Pineal Gland , Pinealoma , Rhabdoid Tumor , Teratoma , Male , Humans , Child , Child, Preschool , Meningioma/diagnosis , Meningioma/surgery , Pineal Gland/surgery , Pineal Gland/pathology , Rhabdoid Tumor/diagnosis , Rhabdoid Tumor/surgery , Teratoma/diagnosis , Teratoma/surgery , Teratoma/pathology , Brain Neoplasms/surgery , Meningeal Neoplasms/diagnosis , Meningeal Neoplasms/surgery , DNA Helicases/metabolism , Nuclear Proteins/metabolism , Transcription Factors/metabolismABSTRACT
We have developed a series of substituted 4-(thiophen-2-ylmethyl)-2H-phthalazin-1-ones as potent PARP-1 inhibitors. Preliminary biological evaluation indicated that most compounds possessed inhibitory potencies comparable to, or higher than AZD-2281. Among these compounds, 18q appeared to be the most notable one, which displayed an 8-fold improvement in enzymatic activity compared to AZD-2281. These efforts lay the foundation for our further investigation.
