Multiple mutations at exon 2 of RHOA detected in plasma from patients with peripheral T-cell lymphoma.

The mutational landscape of peripheral T-cell lymphoma (PTCL) is being revealed through sequencing of lymph node samples, but there has been little work on the mutational load that is present in cell-free DNA (cfDNA) from plasma. We report targeted sequencing of cfDNA from PTCL patients to demonstrate c.50G>T (p.

Shprintzen-Goldberg Syndrome: A Rare Disorder.

The Shprintzen-Goldberg syndrome (SGS) or velo-cardio-facial syndrome (VCFS) is an extremely rare disorder of connective tissue with a characteristic facial dysmorphism, marfanoid features, craniosynostosis, dolichocephaly, cardiovascular anomalies and mild to moderate mental retardation. It may be a de novo gene mutation or inherited as an autosomal dominant disorder having SKI gene and Fibrillin-1 gene (FBN1) mutations, located on chromosome 15q21.1.

PD1 cells associate with clusters of proliferating B-cells in marginal zone lymphoma.

Background: Abnormally sustained immune reactions drive B-cell proliferation in some cases of marginal zone lymphoma but the CD4 T-cell subsets, which are likely to contribute to the B-cell responses in the tumour microenvironment, are not well characterised and neither has the spatial distribution of the different subsets in involved lymph nodes been investigated.

Methods: Employing a workflow of multiplex semi-automated immunohistochemistry combined with image processing we investigated association between infiltrating T-cells and proliferating lymphoma B-cells.

Results: Both total numbers of activating follicular helper (Tfh) cells (defined by high expression of PD1) and suppressive regulatory (Treg) T-cells (defined by FOXP3 expression) and the Tfh:Treg ratio, assessed over relatively large areas of tissue, varied among cases of marginal zone lymphoma.

Amniotic Fluid Embolism.

Amniotic fluid embolism is a rare and severe problem in obstetric patients. We experienced a 21-year primigravida who underwent emergency cesarean section due to sudden collapse and fetal distress after rupture of membranes in labour. Subsequently, she developed intraoperative coagulopathy, hemorrhage, hypotension, and respiratory collapse requiring ventilation.