Aggressive Medulloblastoma With High-Level N-myc Amplification FRANCIS H. TOMLINSON, M.B.,B.S., PH.D., ROBERT B. JENKINS, M.D., PH.D., BERND W. SCHEITHAUER, M.D., PATRICK A. KEELAN, M.D., STEVE RITLAND, B.S., M.S., JOSEPH E. PARISI, M.D., JULIE CUNNINGHAM, Ph.D., KERRY D. OLSEN, M.D.  Mayo Clinic Proceedings  Volume 69, Issue 4, Pages 359-365 (April 1994) DOI: 10.1016/S0025-6196(12)62221-6 Copyright © 1994 Mayo Foundation for Medical Education and Research Terms and Conditions

Fig. 1 A, Medulloblastoma. Original biopsy specimen of 27-year-old man, showing leptomeningeal infiltration (top) and Virchow-Robin space involvement (right). (Hematoxylineosin; X160.) B, Immunostain for synaptophysin, demonstrating diffuse cytoplasmic positivity and accentuation of staining in scattered cells. (x250.) Mayo Clinic Proceedings 1994 69, 359-365DOI: (10.1016/S0025-6196(12)62221-6) Copyright © 1994 Mayo Foundation for Medical Education and Research Terms and Conditions

Fig. 2 Representative GTC-banded (with Giemsa, trypsin, and Leishman's stain) karyotype from second surgical specimen: 71,XXY,+Y,+Y,−2,–3,–4,+5,der(5)t(5;?)(q11.2;?),–8)–9,–10,–11,der(12)t(12;?)(p13;?),–13,t(?15;16)(q13;p13.1),der(16)t(16;?)(q13;?),+16,+17,der(17)t(17;?)(p11.2;?),der(17)t(17;?)(p11.2;?),der(18)t(18;?)(q12.2;?),+20,–22,+5mar. Insert demonstrates chromosome 17 from two additional metaphase cells. Left two chromosomes are abnormal. Mayo Clinic Proceedings 1994 69, 359-365DOI: (10.1016/S0025-6196(12)62221-6) Copyright © 1994 Mayo Foundation for Medical Education and Research Terms and Conditions

Fig. 3 A, Rearrangement of c-myc. Serial dilutions of DNA from control subject (control) and from second tumor specimen (patient) were digested with EcoRI and probed for 5′ end of c-myc. Germline bands of 12.5 kb are present in all lanes. New band of 2.3 kb is observed in tumor DNA. B, Amplification of N-myc. DNA from control subject (control) and from second tumor specimen (undiluted and diluted 1 to 30) were digested with EcoRI and probed for N-myc. Densitometry of diluted specimen gave relative N-myc amplification value of 165-fold. Mayo Clinic Proceedings 1994 69, 359-365DOI: (10.1016/S0025-6196(12)62221-6) Copyright © 1994 Mayo Foundation for Medical Education and Research Terms and Conditions

Fig. 4 Sequence of intron 6-exon 7 boundary of p53 gene. Upper sequence is wild-type p53 sequence. Lower sequence is that of second tumor specimen. See text for description of results. Mayo Clinic Proceedings 1994 69, 359-365DOI: (10.1016/S0025-6196(12)62221-6) Copyright © 1994 Mayo Foundation for Medical Education and Research Terms and Conditions