SOX11 expression in a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma containing BRAF c.1799_1801delTGA and CTNNB1 c.133T>C mutations
VIRCHOWS ARCHIV
Authors: Wong, Soon Boon Justin; Nga, Min En; Michal, Michal; Vanecek, Tomas; Seet, Ju Ee; Petersson, Fredrik
Abstract
We describe a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma (PTC-FLS) that contained the rare BRAF c.1799_1801delTGA (p.V600_K601delinsE) mutation, which has not previously been reported in this tumour, as well as the CTNNB1 c.133T>C (p.S45P) mutation. We also report the novel observation that spindle cells of the mesenchymal component exhibit diffuse nuclear but not cytoplasmic expression of SOX11, whereas the malignant epithelial cells did not. This suggests that immunoreactivity for SOX11 can be an alternative diagnostic tool for evaluating cases of PTC-FLS where the nuclear expression of beta-catenin is ambiguous.
Predisposition of Wingless Subgroup Medulloblastoma for Primary Tumor Hemorrhage
NEUROSURGERY
Authors: Reisinger, Dominik; Gojo, Johannes; Kasprian, Gregor; Haberler, Christine; Peyrl, Andreas; Azizi, Amedeo A.; Mayr, Lisa; Chocholous, Monika; Kool, Marcel; Czech, Thomas; Slavc, Irene
Abstract
BACKGROUND: Primary intratumoral hemorrhage as a presenting sign is rare in children with medulloblastomas but may result in severe complications. Given the distinct properties of molecular medulloblastoma subgroups, the impact on neurosurgical practice has still to be defined. OBJECTIVE: To investigate both clinical and radiological presentation of intratumoral hemorrhage in medulloblastoma patients in the context of molecular subgroups. METHODS: Data of all consecutive medulloblastoma patients treated at our institution between 1993 and 2018 (n = 104) were retrospectively reviewed in respect of clinical and radiological presentation as well as molecular subgroups. For cases with available tumor tissue (n = 86), subgroups were assigned by either 450 K methylation array or immunohistochemistry and CTNNB1 sequencing. Available imaging at diagnosis (n = 62) was reviewed by an experienced neuroradiologist. RESULTS: Within the entire cohort, 4 patients (4%) presented with massive spontaneous hemorrhage. Although no patient died as a direct consequence of hemorrhage, all suffered from serious sequelae. Moreover, 3 additional patients displayed radiological evidence of significant hemorrhage. Interestingly, all 7 cases belonged to the wingless (WNT) subgroup (n = 13), resulting in intratumoral hemorrhage in 54% (7/13) of pediatric WNT medulloblastomas. In contrast, significant hemorrhage was absent in all other molecular subgroups. CONCLUSION: Our results suggest that a substantial proportion of pediatric WNT medulloblastomas display significant intratumoral hemorrhage at the time of diagnosis. Consequently, the presence of significant hemorrhage in fourth ventricle childhood tumors is suggestive of WNT medulloblastoma and should lead to a less aggressive attempt for total resection in this prognostically favorable tumor type.