Fig. 1: Integrative genomic profiling reveals recurrent molecular alterations in sinonasal papilloma-associated sinonasal carcinoma. | Modern Pathology

Fig. 1: Integrative genomic profiling reveals recurrent molecular alterations in sinonasal papilloma-associated sinonasal carcinoma.

From: TP53 mutations and CDKN2A mutations/deletions are highly recurrent molecular alterations in the malignant progression of sinonasal papillomas

Fig. 1

Heatmap of prioritized somatic variants and copy-number alterations highlights recurrent molecular alterations identified in 29 sinonasal papilloma-associated sinonasal carcinomas, including: 24 inverted sinonasal papilloma-associated sinonasal carcinomas (I); and, 5 oncocytic sinonasal papilloma-associated sinonasal carcinomas (O). Recurrent somatic variants include EGFR, KRAS, TP53, CDKN2A, NFE2L2, PIK3CA, ATM, FBXW7, NOTCH1, and PIK3R1; recurrent copy-number gains include EGFR, KRAS, TERT, SOX2, CCND1, MYC, FGFR1, MYCL, and PIK3CA, while recurrent copy-number losses include CDKN2A. Integration of somatic variant and copy-number data reveals that nearly all tumors (n = 28; 96.6%) harbor at least one TP53 or CDKN2A alteration. Tumor samples are ordered from top to bottom by type (I or O) and then increasing NGS ID number. Human papillomavirus infection status is indicated as follows: positive (P), negative (N), or unknown (U). Molecular alterations are ordered from left to right by decreasing frequency and then alphabetical order. Somatic variants are annotated by type: nonsynonymous = yellow; frame-preserving indel = green; stopgain (nonsense) mutation = pink; frameshift indel = orange; and splicing variant = purple. Copy-number alterations are annotated by type: amplification = red; and deep deletion (two-copy loss) = blue.

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