Empat subkumpulan molekul teras medulloblastoma yang mempunyai profil transkripsi dan nilai prognostik yang berbeza diperkenalkan baru-baru ini. Kajian ini bertujuan untuk menentukan varian histologi dan subkumpulan molekul medulloblastoma melalui aplikasi imunohistokimia (YAP-1 dan beta catenin) sebagai penanda surrogate di populasi kami, di samping menghubungkan varian histologi dan subkumpulan molekul ini dengan parameter klinikopatologi. Kami telah melibatkan seramai tujuh belas pesakit medulloblastoma yang berusia empat bulan hingga 14.3 tahun dari tahun 2002 hingga 2017. Histologi klasik (76.5%) adalah histologi medulloblastoma yang paling umum, diikuti oleh varian sel besar/ anaplastik (LCA) (17.6%) dan desmoplastik/nodular (DN) (59%). Subkumpulan molekul yang paling kerap adalah tumor bukan SHH/WNT (64.7%), diikuti oleh tumor SHH (35.3%). Di antara tumor SHH, 66.7% adalah histologi klasik dan selebihnya 33.3% adalah varian LCA. Yang menariknya, satu kes yang menunjukkan histologi DN memaparkan imunonegativiti kepada YAP-1 dan beta catenin, dan tergolong kepada subkumpulan molekul bukan SHH/WNT. Majoriti (88.2%) medulloblastoma berada di lokasi pertengahan ventrikel keempat, termasuk varian DN. Dianggarkan tiga tahun kelangsungan hidup bebas penyakit (DFS) dan survival keseluruhan (OS) masing-masing adalah 60% dan 86.7%. Umur 5 cm, histologi LCA dan kumpulan berisiko tinggi adalah berkorelasi terbalik dengan DFS. Bayi
Myeloid sarcoma (MS) is a rare extramedullary myeloid tumour. It has been reported in various sites, including lymph node, bone, skin, soft tissue, various organs and the CNS. It may precede or occur concurrently with acute myeloid leukemia. Urinary bladder involvement is extremely uncommon. We report a 70-year-old female who had MS of the urinary bladder, presented with frank and persistent hematuria associated with lower abdominal pain. She subsequently had tumour seeding in the abdominal skin via percutaneous suprapubic catheter. Tumours from both the urinary bladder and skin showed immature cells that were immunoreactive toward LCA (focal), MPO (strong), CD99 (weak) and CD117 (weak). Summary of cases in the literature is presented. The potential of its misdiagnosis and the useful markers for the diagnosis of MS are discussed.
Non-melanoma skin cancer (NMSC) is classified among the ten most frequent cancers in Malaysia. A common polymorphism at codon 72 of the p53 tumor suppressor gene and its influence on cancer risk has been studied for different types of cancer with mixed and inconsistent results with limited published data on the Malaysian population so far. In the present study, the frequency of p53 codon 72 polymorphism in 60 patients with NMSC was investigated from archival formalin-fixed paraffin-embedded (FFPE) tissue obtained from Hospital Universiti Kebangsaan Malaysia (HUKM). Additionally, random amplified polymorhic DNA -polymorphic chain reaction (RAPD-PCR) was employed for preliminary biomarker development. NMSC FFPE samples (70%) possess Arg/Arg, 20% with Pro/Pro and 10% with Arg/Pro. In total, there was no significant difference in the p53 codon 72 genotypes between histological types of NMSC, gender, race, tumor location and age group. However, there was an apparent age-associated increase in the Arg/Arg genotype but did not reach statistical significance (P=0.235). NMSC types and demographic characteristics did not influence genotype distribution. On the other hand, BCC and SCC distributions are influenced by age group, race and tumor location.