case_images: PMC7446479_01
case_images: Present cytometric fluorescence in situ hybridization lymphocyte results for individuals ii, iv, vi, and vii and granulocyte results for individuals iv, vi, and vii.
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case_images: PMC7446479_01_PO.19.00230f1.jpg
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case_images: For two individuals, telomere length testing through cytometric fluorescence in situ hybridization identified telomere lengths in the 1st percentile or less; in two additional individuals, telomere lengths were in the 10th percentile or less; and in one additional individual, telomere length testing failed because of low blood counts that did not recover after chemotherapy (Fig 1).
case_images: Germline TERT mutational lollipop illustration (n = 7) and somatic TP53 mutational lollipop illustration (n = 5). Individuals ii and vii were without tumor specimens available for sequencing, and individual vi was found to have two somatic TP53 mutations. aa, amino acid.
case_images: PO.19.00230f2.jpg
case_images: PMC7446479_01_PO.19.00230f2.jpg
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case_images: Somatic mutation analysis of all five individuals with germline TERT mutations and tumor specimens available for analysis showed somatic TP53 driver mutations, which are generally associated with poor prognosis (Fig 2).