Effective anti-programmed death-1 therapy in a SUFU-mutated patient with Gorlin-Goltz syndrome.

We present the case of a 77-year-old male patient with more than 50 basal cell carcinomas on the head and upper trunk. The patient did not respond to several lines of treatment, including surgery, imiquimod, retinoids, itraconazole and therapy with the hedgehog inhibitor vismodegib. The patient responded well to off-label therapy with the anti-programmed death-1 antibody pembrolizumab after four infusions.

Predictive value of PD-L1 based on mRNA level in the treatment of stage IV melanoma with ipilimumab.

INTRODUCTION: PD-L1 is established as a predictive marker for therapy of non-small cell lung cancer with pembrolizumab. Furthermore, PD-L1 positive melanoma has shown more favorable outcomes when treated with anti-PD1 antibodies and dacarbazine compared to PD-L1 negative melanoma. However, the role of PD-L1 expression with regard to response to checkpoint inhibition with anti-CTLA-4 is not clear, yet. In addition, the lack of standardization in the immunohistochemical assessment of PD-L1 makes the comparison of results difficult. In this study, we investigated the PD-L1 gene expression with a new fully automated technique via RT-PCR and correlated the findings with the response to the anti-CTLA-4 antibody ipilimumab. MATERIALS AND METHODS: Within a retrospective multi-center trial, PD-L1 gene expression was evaluated in 78 melanoma patients in a total of 111 pre-treatment tumor samples from 6 skin cancer centers and analyzed with regard to response to ipilimumab. For meaningful statistical analysis, the cohort was enriched for responders with 30 responders and 48 non-responders. Gene expression was assessed by quantitative RT-PCR after extracting mRNA from formalin-fixed paraffin embedded tumor tissue and correlated with results from immunohistochemical (IHC) stainings. RESULTS AND DISCUSSION: The evaluation of PD-L1 expression based on mRNA level is feasible. Correlation between PD-L1 expression as assessed by IHC and RT-PCR showed varying levels of concordance depending on the antibody employed. RT-PCR should be further investigated to measure PD-L1 expression, since it is a semi-quantitative method with observer-independent evaluation. With this approach, there was no statistical significant difference in the PD-L1 expression between responders and non-responders to the therapy with ipilimumab. The evaluation of PD-L1 expression based on mRNA level is feasible. Correlation between PD-L1 expression as assessed by IHC and RT-PCR showed varying levels of concordance depending on the antibody employed. RT-PCR should be further investigated to measure PD-L1 expression, since it is a semi-quantitative method with observer-independent evaluation. With this approach, there was no statistical significant difference in the PD-L1 expression between responders and non-responders to the therapy with ipilimumab.

[How Congruent is the Rating of the Results of Flexor Tendon Injury Repairs Using the Scores by Buck-Gramcko, Strickland, and the American Society for Surgery of the Hand?]. / Inwieweit stimmt die Ergebnisbeurteilung nach Eingriffen bei Beugesehnenverletzungen bei Anwendung der Bewertungssysteme nach Buck-Gramcko, Strickland und der Amerikanischen Gesellschaft für Handchirurgie überein?

PURPOSE: Scores are essential for comparing function after flexor tendon reconstructions. The Buck-Gramcko Score, the Strickland Score and the ASSH (American Society for Surgery of the Hand) Score are the most commonly applied rating systems. The purpose of this study is to evaluate these systems and their interchangeability. METHOD: Based on an unrestricted metacarpophalangeal (MCP) joint of 0-0-90° or limited range of motion of the MCP joint of 0-30-90°, the scores of the 3 rating systems were assessed and graphically displayed for each possible finger position regarding proximal (PIP) and distal (DIP) interphalangeal joints. RESULTS: Based on an unrestricted MCP joint, the scores of the 3 rating systems differed in 24-33% of the obtained values, depending on the sum of joint flexion and extension deficits of the aforementioned PIP and DIP joints. If the range of motion was restricted to 0-30-90° in the MCP joint, differing values were only observed in 16-19% of the obtained values. In extreme cases, scores for the same clinical presentation may thus be "excellent", "fair" or "poor", depending on which system has been used. CONCLUSION: The different rating systems for the evaluation of flexor tendon reconstruction are neither identical nor adjustable. Therefore, consensus or at least a recommendation is needed regarding the system to be used. It may even be necessary to develop a generally accepted rating system to compare studies. In the meantime, the readings of the active and passive range of motion of all joints of the affected finger/thumb ought to be published in studies to compare and validate the results.

[Isolated capitate fractures in the frontal plane]. / Isolierte Kapitatumfrakturen in der Koronarebene.

Isolated fractures of the capitate in the frontal plane are both very rare and most of the time very discreet. There is a great risk to miss such fractures with potential longterm consequences. The following report of two independent patients highlights the importance of computed tomography in order to verify fractures and initiate adequate treatment.