Deletions of the INK4A Gene Occur in Malignant Peripheral Nerve Sheath Tumors but not in Neurofibromas Helen P. Kourea, Irene Orlow, Bernd W. Scheithauer,

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Deletions of the INK4A Gene Occur in Malignant Peripheral Nerve Sheath Tumors but not in Neurofibromas Helen P. Kourea, Irene Orlow, Bernd W. Scheithauer, Carlos Cordon-Cardo, James M. Woodruff The American Journal of Pathology Volume 155, Issue 6, Pages 1855-1860 (December 1999) DOI: 10.1016/S0002-9440(10)65504-6 Copyright © 1999 American Society for Investigative Pathology Terms and Conditions

Figure 2 Deletion analysis of the INK4A-exon 1β gene in MPNSTs and NFs. A: the standardization of the assay by incremental amplification of INK4A-exon 1β with an increasing normal DNA target. To the right, the control curve was constructed with the relative INK4A/control ratios and the amount of normal DNA included in each sample. B: absence of INK4A-exon 1β in MPNST samples 4, 9, 10, and 11-I, with retention in the three neurofibroma samples (NFd, NFe, NFf). To the right, the ratios (INK4A/control. obtained for the tumor samples are compared to those obtained for normal control DNA. Note the reduction in the ratios (expressed as a percentage of normal DNA) in the same cases. Samples 9, 10, and 11-I correspond to the same patient (G). NL, normal. The American Journal of Pathology 1999 155, 1855-1860DOI: (10.1016/S0002-9440(10)65504-6) Copyright © 1999 American Society for Investigative Pathology Terms and Conditions

Figure 3 INK4A point mutations analysis in MPNSTs. The left panel illustrates the band pattern obtained for the tumor samples 2I and 2II (2I and 2II derived from the same tumor), by PCR-SSCP analysis. Additional INK4A bands (B*) were identified in the tumor samples 2I and 2II. Direct sequencing results of the PCR products obtained from the elution of normal (A) and abnormal (B*) bands from the same cases are shown in the middle panel, corresponding to the forward sequences. The asterisks indicate the base change. The single base substitution (G→A, arrow) produces the polymorphism (Ala→Thr), as indicated in the forward sequence. The American Journal of Pathology 1999 155, 1855-1860DOI: (10.1016/S0002-9440(10)65504-6) Copyright © 1999 American Society for Investigative Pathology Terms and Conditions

Figure 1 Southern blot analysis of the INK4A gene in MPNSTs. Genomic DNA was digested with the restriction enzyme TaqI. Southern blot was performed using a specific p16 complementary-DNA probe, as described in Materials and Methods. A control probe (GAPDH) for DNA loading was used in the analysis. The INK4A p16-specific signals shown in this figure correspond to bands of 3.7 kb (kb). The control probe signal shown corresponds to 3.7- to 5.0-kb bands. A NF sample (NFc) and a MPNST sample3 depict a normal band pattern. MPNST samples 4 and 9 illustrate a homozygous deletion of the INK4A-p16 gene. NF, neurofibroma; GAPDH, glyceraldehyde phosphate dehydrogenase. The American Journal of Pathology 1999 155, 1855-1860DOI: (10.1016/S0002-9440(10)65504-6) Copyright © 1999 American Society for Investigative Pathology Terms and Conditions