An autopsy case of peripheral neuroepithelioma in posterior mediastinum with p53 point mutation.
An 18-year old male was admitted to our hospital complaining of back pain. His chest computed tomography showed a tumor in the posterior mediastinum. Open biopsy was performed, and a diagnosis of peripheral neuroepithelioma was made. No genetic abnormalities were detected in the DNA obtained from the biopsy specimen. He received chemotherapy and radiation several times. These treatment regimens were effective, but he relapsed 14 months later and died of respiratory failure due to tumor growth. Autopsy examination revealed a large tumor which occupied almost the entire right thoracic cavity, but there was no evidence of metastasis to other organs. Chromosomal translocation t(14;17) (q24;p12.2) and point mutation of exon 5 of the p53 gene were detected.
Matsuyama
W
W
Department of Respiratory Medicine, Minami-kyushu National Hospital, Kagoshima.
Wakimoto
J
J
Nakagawa
M
M
Mizuno
K
K
Kanazawa
H
H
Niiyama
T
T
Mizoguchi
A
A
Iwami
F
F
Yamanaka
K
K
Kawabata
M
M
Osame
M
M
D000293:Adolescent; D003131:Combined Modality Therapy; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000032:analysis; D005091:Exons; D017809:Fatal Outcome; D005500:Follow-Up Studies; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008479:Mediastinal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D009364:Neoplasm Recurrence, Local; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013902:Radiography, Thoracic; D014178:Translocation, Genetic
D017931:DNA Primers; D004273:DNA, Neoplasm