Glioblastoma (GBM) is the most common and malignant tumour of the central nervous system. Recent appreciation of the heterogeneity amongst these tumours not only changed the WHO classification approach, but also created the need for developing novel and personalised therapies. This systematic review aims to highlight recent advancements in understanding the molecular pathogenesis of the GBM and discuss related novel treatment targets. A systematic search of the literature in the PubMed library was performed following the PRISMA guidelines for molecular pathogenesis and therapeutic advances. Original and meta-analyses studies from the last ten years were reviewed using pre-determined search terms. The results included articles relevant to GBM development focusing on the aberrancy in cell signaling pathways and intracellular events. Theragnostic targets and vaccination to treat GBM were also explored. The molecular pathophysiology of GBM is complex. Our systematic review suggests targeting therapy at the stemness, p53 mediated pathways and immune modulation. Exciting novel immune therapy involving dendritic cell vaccines, B-cell vaccines and viral vectors may be the future of treating GBM.

Paediatric gliomas represent the most common brain tumour in children. Early diagnosis and treatment greatly improve survival. Histological grade is the most significant classification system affecting treatment planning and prognosis. Paediatric gliomas depend on pathways and genes responsible for mitotic activity and cell proliferation as well as angiogenesis (MAPK, VEGF, EFGR pathways). Symptoms such as focal neurologic deficit or seizures can facilitate diagnosis, but they are not always present and therefore diagnosis is occasionally delayed. Imaging has adequate diagnostic accuracy (surpassing 90%), and novel imaging techniques such as MR spectroscopy and PET increase only slightly this percentage. Low grade gliomas (LGG) can be approached conservatively but most authors suggest surgical excision. High grade gliomas (HGG) are always operated with exception of specific contradictions including butterfly or extensive dominant hemisphere gliomas. Surgical excision is universally followed by radiotherapy and chemotherapy, which slightly increase survival. Inoperable cases can be managed with or without radiosurgery depending on location and size, with adjunctive use of radiotherapy and chemotherapy. Surgical excision must be aggressive and gross total resection (GTR) should be attempted, if possible, since it can triple survival. Radiosurgery is effective on smaller tumours of <2 cm². Surgical excision is always the treatment of choice, but glioma recurrences, and residual tumours in non-critical locations are candidates for radiosurgery especially if tumour volume is low. Management of recurrences includes surgery, radiosurgery and chemoradiotherapy and it should be individualized according to location and size. In combination with molecular targeted therapeutic schemes, glioma management will be immensely improved in the next years.

Aplasia cutis congenita (ACC) is a part of a heterogeneous group of conditions characterized by the congenital absence of epidermis, dermis, and in some cases, subcutaneous tissues or bone usually involving the scalp vertex. There is an estimated incidence of 3 in 10,000 births resulting in a total number of 500 reported cases to date. The lesions may occur on every body surface although localized scalp lesions form the most frequent pattern (70%). Complete aplasia involving bone defects occurs in approximately 20% of cases. ACC can occur as an isolated defect or can be associated with a number of other congenital anomalies such as limb anomalies or embryologic malformations. In patients with large scalp and skull defects, there is increased risk of infection and bleeding along with increased mortality and therefore prompt and effective management is advised. We describe two cases of ACC, involving a 4 × 3 cm defect managed conservatively and a larger 10 × 5 cm defect managed surgically with the use of a temporo-occipital scalp flap. Both cases had an excellent outcome. Multiple treatment regimens exist for ACC, but there is no consensus on treatment strategies. Conservative treatment has been described and advocated, but many authors have emphasized the disadvantages of this treatment modality. Decision between conservative and surgical management must be individualized according to lesion size and location.