Magnus Sabel

TL;DR: An extensive assessment of mutation burden through sequencing analysis of >81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused by chemotherapy, carcinogens, or germline alterations, uncovered new driver mutations in the replication-repair-associated DNA polymerases and a distinct impact of microsatellite instability and replication repair deficiency on the scale of mutation load.

TL;DR: In patients with biallelic mutations in UNC13D, STX11, or STXBP2 associated with familial hemophagocytic lymphohistiocytosis, CTL and NK cell degranulation were similarly impaired, suggesting that analysis of CD57(bright) CTL function may prove useful in the diagnosis of primary immunodeficiencies including familial hemopoietic cancer.

TL;DR: Findings implicate an intronic sequence in cell-type specific expression of Munc13-4 and signify variations outside exons and splice sites as a common cause of FHL3, which is an autosomal recessive, often-fatal hyperinflammatory disorder.

TL;DR: Survival after relapse was not related to biological factors and was very poor despite several patients receiving intensive treatments, and exploration of new drugs is warranted, preferably based on tumour biology from biopsy of the relapsed tumour.

TL;DR: An annual incidence of suspected primary HLH in Sweden 1971–1986 of 0.12 per 100,000 children was reported, to determine if the incidence had increased with concomitant awareness.