Dumbbell-shaped peripheral primitive neuroectodermal tumor of the spine—case report and review of the literature

Abstract

Primary spinal peripheral primitive neuroectodermal tumors (pPNETs) are extremely rare. Here, we present a case study of a 29-year-old male with a dumbbell-shaped pPNET at the T9-10 spine level, including details of his examination, surgical procedures applied, histological and genetic findings, and his subsequent treatment. We discuss the clinical course, the pathology and treatment for this disease, the surgical approach to thoracic dumbbell tumors and we review the literature. To our knowledge, this is the first report of a case of a dumbbell-shaped intradural and spinal peripheral PNET.

Clinical presentation and long-term outcome of primary spinal peripheral primitive neuroectodermal tumors

“…However, surgical removal of the tumors is the cornerstone of therapy [20]. Although tumor relapses and metastasis might occur even with gross total resection, radical resection is still recommended to prevent further neurological decline, improve quality of life, allow early mobilization and achieve sufficient volume reduction for further oncological management [18]. Gross total resection was achieved in 77 % (10/13) of patients in our series without causing further neurological damage.…”

“…However, in our series, 69 % (9/13) were female and 31 % (4/13) were male, which is just contrary to their findings. Previous studies have asserted that primary spinal PNETs are most prevalent in children and young adults [4,[15][16][17][18].…”

Primitive neuroectodermal tumors of the spine: a comprehensive review with illustrative clinical cases

“…The assertion that primary spinal PNETs are most prevalent in the pediatric and young-adult populations and are observed more commonly in males than in females is supported by our analysis of reported cases. 40,45,48 The median age at the time of diagnosis was 24 years (range 0.25-70 years) and there was a nearly 2:1 male sex preponderance (Table 1).…”

Spinal Dumbbell-Shaped Peripheral Primitive Neuroectodermal Tumor in a Child

“…A dumbbell-shaped appearance is exceedingly rare. To our knowledge 2 previous cases have been reported in adults, thus our patient is the first pediatric case of a dumbbell-shaped spinal pPNET reported in the literature [1,7]. The presence of the characteristic translocation (11;22)(q24;q12) in more than 90% of cases is the strongest diagnostic tool.…”

“…Spinal pPNET are exceedingly rare and represent less than 1% of primary spinal tumors [1,2]. They typically present in patients in the third decade of life and have a male predominance [3].…”