While our study suggests that genome wide aneuploidy scoring alone may not have high sensitivity for detecting the progression from PN to MPNST, the combination of GAS and detection of sub-chromosomal changes in genes such as TERT, TP53, and SUZ12 or mutations in ctDNA may lead to a sensitivity of ~50% at a high specificity of 97%. The gene discussed is TP53; the disease is poikiloderma with neutropenia.