Spinal cord tumours: advances in genetics and their implications for treatment

Abstract

Tumours of the spinal cord, although rare, are associated with high morbidity. Surgical resection remains the primary treatment for patients with this disease, and offers the best chance for cure. Such surgical procedures, however, carry substantial risks such as worsening of neurological deficit, paralysis and death. New therapeutic avenues for spinal cord tumours are needed, but genetic studies of the molecular mechanisms governing tumourigenesis in the spinal cord are limited by the scarcity of high-quality human tumour samples. Many spinal cord tumours have intracranial counterparts that have been extensively studied, but emerging data show that the tumours are genetically and biologically distinct. The differences between brain and spine tumours make extrapolation of data from one to the other difficult. In this Review, we describe the demographics, genetics and current treatment approaches for the most commonly encountered spinal cord tumours—namely, ependymomas, astrocytomas, haemangioblastomas and meningiomas. We highlight advances in understanding of the biological basis of these lesions, and explain how the latest progress in genetics and beyond are being translated to improve patient care.

The molecular characteristics of spinal cord gliomas with or without H3 K27M mutation

“…Currently, our understating of spinal cord astrocytomas is largely based on advances in their intracranial counterparts, as the low incidence of spinal cord astrocytomas leads to difficulties in collecting sufficient samples to run adequate analyses. However, genetic alterations and the molecular biological profile of spinal cord gliomas seem to be distinct from those of their brain counterparts [1,2,13,27,33,34,37,38].…”

Primary spinal oligoastrocytoma mimicking longitudinally extensive transverse myelitis

“…No brain abnormality was present in our patient initially to suggest a primary brain oligoastrocytoma that disseminated to the spinal cord. High-grade IMSCTs are usually treated with surgical resection with adjuvant radiotherapy; the role of chemotherapy is not clearly established (Traul et al, 2007;Zadnik et al, 2013). Regrettably, the advanced stage of the tumor in our patient at the time of diagnosis precluded these treatment modalities.…”

“…IMSCTs have intracranial equivalents with molecular genetic markers; one such marker is the co-deletion of chromosomes 1p and 19q (Zadnik et al, 2013). The presence of this marker aid in the diagnosis of oligodendrogliomas and predicts favorable chemosensitivity with improved survival in anaplastic oligodendrogliomas (Mason and Cairncross 2008).…”

The genetic basis of intradural spinal tumors and its impact on clinical treatment

“…Because of the rarity of intradural spinal tumors, collaborative, multicenter investigations will be required to fully realize the promise of targeted genetics-based therapies. 127 Continued elucidation of the genetic features of these tumors will aid in the future design of treatment options and in clinical decision making. …”