CNS tumor 22 years after spinal neuroblastoma IV: diagnostic dilemma between recurrence and secondary malignancy.
We present the very unusual case of a young woman suffering from a brain tumor 22 years after a stage IV spinal neuroblastoma as an infant, demonstrating the difficulties of differentiating late neuroblastoma relapse from secondary supratentorial primitive neuroectodermal tumor (sPNET). Lacking specific immunohistochemical features, the first cerebral tumor at the age of 21 was regarded as sPNET, and we pursued a therapeutic approach consisting of neurosurgical resection as well as irradiation and high-dose alkylator-based chemotherapy according to the HIT2000 protocol. Two years later the patient suffered from a diffusely infiltrating local recurrence, changing its imaging appearance as well as its immunohistochemical characteristics, now revealing disseminated positivity for neuron-specific enolase and neural cell adhesion molecule. Moreover, the lack of PNET-specific translocations (EWS/FLI1 gene fusion) in both brain tumors as well as the development of hepatic metastases was more compatible with the diagnosis of a very late relapse 22 years after initial stage IV spinal neuroblastoma.
Gutenberg
Angelika
A
Department of Neurosurgery, Georg August University, Göttingen, Germany. agutenberg@med.uni-goettingen.de
Schulten
Hans-Jürgen
HJ
Gunawan
Bastian
B
Ludwig
Hans-Christoph
HC
Brück
Wolfgang
W
Larsen
Jörg
J
Rohde
Veit
V
D000328:Adult; D001932:Brain Neoplasms / Q000235:genetics / Q000473:pathology*; D004273:DNA, Neoplasm / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008279:Magnetic Resonance Imaging; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology*; D009367:Neoplasm Staging; D016609:Neoplasms, Second Primary / Q000235:genetics / Q000473:pathology*; D009447:Neuroblastoma / Q000235:genetics / Q000473:pathology*; D013125:Spinal Neoplasms / Q000235:genetics / Q000473:pathology*; D013997:Time Factors
D004273:DNA, Neoplasm; D005819:Genetic Markers