Father and Son Affected by Glioma. a Proteomic Analysis and Clinical Report

Introduction: Genetic predisposition to GBM is rare and largely occurs in association with syndromes such as Li-Fraumeni and neurofibromatosis.In a smaller subset of cases, there are apparent genetic effects on GBM incidence in the absence of these syndromes. We present a familial case of father and son affected by glioblastoma and anaplastic glioma respectively.

Methods: Both father and son underwent surgical resection and STUPP protocol. We conducted also an environmental assessment and a proteomic analysis in order to try to gather useful information for these dramatic clinical cases.

Results: Molecular profiles of plasma vesicles (isolated to reduce the "noise" due to immunoglobulins and albumin) and urine.
In total, 852 proteins were identified; as shown below in the Venna diagram, some are specific to plasma and others to urine. There are some proteins typical of inflammatory markers, such as CD44, Osteopontin and galectin3 binding protein. Then there are other proteins that have been linked to GBM in the literature, such as IDH1, FGL2 and PKM, almost exclusively in urine and with a higher level in Ct01.
Of these proteins we are looking for any mutations already described in the literature that are linked to prognosis.
The proteins were classified by function (pathway) and the main result is shown in the image with the "Bubbles";
Also in this case, it seems that Ct01 has more expressed (percentages of red) functions linked to the disease.
From this computational evaluation we can go into the specifics of the nodes/proteins of specific functions, using the Cytoscape platform.
Plasma vesicles are probably a set of signals from different organs/tissues that dilute the specific signals of the disease; while the signals of the disease are concentrated in the urine, because the body discharges them.

Conclusion : From the analysis we documented that the differences between the two subjects are minimal considering the plasma; while it is very evident for urine samples. Further investigation and correlation with genomic and transcriptomics analysis that are still ongoing.