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Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay – management recommendations

Review article: Biomedical intelligence
Trück J, Prader S, Natalucci G, Hagmann C, Brotschi B, Kelly J, Bassler D, Steindl K, Rauch A, Baumgartner M, Fingerhut R, Hauri-Hohl M, Güngör T, Pachlopnik Schmid J, Berger C, Reichenbach J
Swiss Med Wkly. 2020;150:w20254

The recent introduction of newborn screening for severe primary T and B cell deficiencies in Switzerland allows rapid identification of patients with severe combined immunodeficiency (SCID). The authors outline the screening procedure currently performed in Switzerland and give recommendations for diagnostic evaluations and precautionary measures against infection in children with abnormal screening test results.

Swiss experience of atezolizumab for platinum-pretreated urinary tract carcinoma: the SAUL study in real-world practice

Original article
Cathomas R, Schardt J, Pless M, Llado A, Mach N, Riklin C, Haefeli J, Fear S, Stenner F
Swiss Med Wkly. 2020;150:w20223

Atezolizumab is an approved therapy for urothelial carcinoma based on results from phase II and III trials. The global SAUL study evaluated atezolizumab in a broader patient population more representative of real-world populations.

Identifying cancer driver genes from functional genomics screens

Original article
Togar T, Desai S, Mishra R, Terwadkar P, Ramteke M, Ranjan M, Kawle D, Sahoo B, Pal A, Upadhyay P, Dutt A
Swiss Med Wkly. 2020;150:w20195

Cancer cells are dependent on a few driver genes for the constitutive activation of the signalling pathways which aid cellular proliferation. Targeting oncogenic-dependent genes has met with success, as demonstrated in several cancer types.

Treatment sequence in patients with neuroendocrine tumours: a nationwide multicentre, observational analysis of the Swiss neuroendocrine tumour registry

Original article
Kollar A, Bütikofer L, Ochsenbein A, Stettler C, Trepp R
Swiss Med Wkly. 2020;150:w20176

In recent years, several treatment modalities have proved to be effective in the treatment of neuroendocrine tumours. However, there is currently no consensus on the sequence in which these options are best used.

Holistic cancer genome profiling for every patient

Review article: Biomedical intelligence
Nik-Zainal S, Memari Y, Davies HR
Swiss Med Wkly. 2020;150:w20158

Recent advancements in sequencing technology, including low-volume and single-cell sequencing, have led us to gain some fascinating new insights that may require us to reflect and adjust our understanding of cancer biology.

Cost effectiveness of pembrolizumab vs chemotherapy as first-line treatment for metastatic NSCLC that expresses high levels of PD-L1 in Switzerland

Original article
Bhadhuri A, Insinga R, Guggisberg P, Panje C, Schwenkglenks M
Swiss Med Wkly. 2019;149:w20170

Pembrolizumab programmed death-1 (PD-1) inhibitor is indicated for treatment of patients with previously untreated metastatic NSCLC with a PD-L1 tumour proportion score (TPS) ≥50%. Its cost effectiveness for this indication has not previously been evaluated in Switzerland.

Impact of treatment decision algorithms on treatment costs in recurrent glioblastoma: a health economic study

Original article
Panje CM, Putora PM, Hundsberger T, Hottinger AF, Roelcke U, Pesce G, Herrmann E, Matter-Walstra K
Swiss Med Wkly. 2019;149:w20153

Recurrent glioblastoma (GBM) is a disease with poor prognosis for which there is no established standard therapy. A recent survey among Swiss neuro-oncology centres has shown considerable differences in treatment recommendations.

Toxicity associated with PD-1 blockade after allogeneic haematopoietic cell transplantation

Original article
Ortega Sanchez G, Stenner F, Dirnhofer S, Passweg J, Gerull S, Halter JP, Zippelius A, Läubli H
Swiss Med Wkly. 2019;149:w20150

The programmed death-1 (PD-1) pathway serves as a checkpoint to limit T-cell mediated immune responses. Blocking the PD-1 receptor on T cells with monoclonal anti­bodies results in T-cell activation and proliferation and can induce a potent immuno­therapeutic antitumour effect.

The role of autophagy in HER2-targeted therapy

Review article: Biomedical intelligence
Janser FA, Tschan MP, Langer R
Swiss Med Wkly. 2019;149:w20138

The HER2 oncogene is overexpressed in different tumour types and drugs specifically targeting it have been successfully used in cancer therapy. Resistance to these drugs ultimately occurs. In this context autophagy was reported to be upregulated.

Targeting the Wnt signalling pathway in cancer: prospects and perils

Review article: Biomedical intelligence
Shaw HV, Koval A, Katanaev VL
Swiss Med Wkly. 2019;149:w20129

The Wnt pathway is not only involved in tumourigenesis and cell proliferation, but also contributes to chemoresistance and cancer stem cell propagation, responsible for tumour recurrence after therapy, metastasis and poor patient survival.

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