Tumor growth patterns on magnetic resonance imaging and treatment outcomes in patients with locally advanced cervical cancer treated with definitive radiotherapy.

BACKGROUND: To evaluate the prognostic value of tumor growth patterns on magnetic resonance (MR) images in patients with locally advanced cervical cancer (LACC) treated with definitive radiotherapy or concurrent chemoradiotherapy (RT/CCRT). METHODS: We retrospectively reviewed 102 patients with LACC who received definitive RT/CCRT and who underwent MR imaging before RT/CCRT. Growth patterns on pretreatment T2-weighted MR images were classified into expansive or infiltrative type according to tumor morphologic patterns in the myometrium and/or parametrial space. RESULTS: The median age was 60 years (range 26-90 years). The median follow-up time was 47.7 months (range 5.7-123 months). The numbers of patients with stages IB, II, III, and IVA were 17, 39, 43, and 3, respectively. The 3-year overall survival (OS) rates for stages IB, II, III, and IV were 87%, 76%, 74%, and 67%, respectively. Regarding growth patterns on MR images, 31 were of expansive type and 71 were of infiltrative type. The infiltrative type was significantly associated with lower OS and locoregional recurrence-free survival (LRRFS) than the expansive type (3-year OS, 70% vs. 93%, p = 0.003; 3-year LRRFS, 64% vs. 94%, p = 0.001). On multivariate analysis, infiltrative tumor growth patterns were a significant independent factor for low OS (hazard ratio [HR], 3.81; 95% confidence interval [CI] 1.26-16.7; p = 0.015) and low LRRFS (HR, 4.27; 95% CI 1.43-18.5; p = 0.007). CONCLUSION: Tumor growth patterns on MR images could be an indicator of survival and locoregional control in patients with LACC treated with definitive RT/CCRT.

Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.

BACKGROUND: A proper balance between the activator and the repressor form of GLI3, a zinc-finger transcription factor downstream of hedgehog signaling, is essential for proper development of various organs during development. Mutations in different domains of the GLI3 gene underlie several congenital diseases including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). CASE PRESENTATION: Here, we describe the case of an overlapped phenotype of these syndromes with agenesis of the gallbladder and the pancreas, bearing a c.2155 C > T novel likely pathogenic variant of GLI3 gene by missense point mutation causing p.P719S at the proteolytic cleavage site. CONCLUSIONS: Although agenesis of the gallbladder and the pancreas is uncommon in GLI3 morphopathy, a slight difference in the gradient or the balance between activator and repressor in this case may hinder sophisticated spatial and sequential hedgehog signaling that is essential for proper development of gallbladder and pancreas from endodermal buds.

Primary Type3 (Non-ABC, Non-GCB) Subtype of Extranodal Diffuse Large B-Cell Lymphoma of the Thyroid Bearing No MYD88 Mutation by Padlock Probe Hybridization.

Primary extranodal malignant lymphoma of the thyroid is a rare entity composed of mostly neoplastic transformation of germinal center-like B cells (GCB) or memory B cells. Other B-cell-type malignancies arising primarily in the thyroid have rarely been described. Immunohistochemical examination of autopsied primary malignant lymphoma of the thyroid in an 83-year-old Japanese female revealed the presence of a non-GCB subtype of diffuse large B-cell lymphoma (DLBCL) without the typical codon 206 or 265 missense mutation of MYD88. The lack of the highly oncogenic MYD88 gene mutation, frequently observed in DLBCL of the activated B-cell (ABC) subtype, and the detection of an extremely aggressive yet local clinical phenotype demonstrated that the present case was an exceptional entity of the type3 (non-GCB and non-ABC) subtype.