Rapid development of optic glioma in a patient with hybrid phakomatosis: neurofibromatosis type 1 and tuberous sclerosis.
Increased propensity for tumor formation in neurofibromatosis and tuberous sclerosis exists because of defective tumor-suppressor genes. Although different tumor-suppressor genes may be involved in neurofibromatosis and tuberous sclerosis, at the cellular level these genes share rather common enzymatic pathways. We believe these genetic malfunctions have resulted in a cumulative or additive effect for rapid growth of optic glioma in the following unusual case that has hybrid phakomatosis.
Erbay
Sami H
SH
Department of Radiology, New England Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA.
Oljeski
Stephen A
SA
Bhadelia
Rafeeque
R
D005260:Female; D016147:Genes, Tumor Suppressor; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009378:Neoplasms, Multiple Primary / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D020752:Neurocutaneous Syndromes / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D009900:Optic Nerve / Q000002:abnormalities / Q000000981:diagnostic imaging; D020339:Optic Nerve Glioma / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D009915:Orbit / Q000002:abnormalities / Q000000981:diagnostic imaging; D009918:Orbital Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D011856:Radiographic Image Enhancement; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology