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Benign Tumors

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The MGZ offers highly sensitive duplex sequencing to analyze benign tumor diseases. With this novel technology, sequence variants with 0.5 % allele frequency can be detected with a sensitivity of 99.7 % and a precision of 91.5 %.

Case Report: Highly sensitive Liquid Biopsy Duplex Sequencing enables molecular diagnosis from plasma in a 10-year-old child with clinically confirmed overgrowth syndrome:

The Liquid Biopsy Panel was used to molecularly diagnose a 10-year-old child with clinically diagnosed asymmetric overgrowth syndrome with arteriovenous malformations confined to one side of the body. The somatic KRAS variant c.35G>A, p.(Gly12Asp) was detected in plasma with an allele frequency of 1%. The KRAS c.35G>A, p.(Gly12Asp) variant results in constitutive overactivation and increased signal transduction into downstream signaling pathways and is associated with overgrowth, including various types of congenital nevi and vascular malformations (so-called mosaic RASopathies). Consequently, detection of the KRAS variant c.35G>A, p.(Gly12Asp) in plasma could molecularly explain the clinically observed overgrowth syndrome.

Liquid biopsy provides the variant profile in contrast to tissue biopsy, which is limited to detecting variants in the resected sample. Duplex sequencing of liquid biopsies extends the limits for the detection of low-frequency variants in plasma. Our broad duplex sequencing panel enables highly sensitive screening of all therapy-relevant variants for overgrowth syndrome. In our case study, liquid biopsy duplex sequencing identified KRAS c.35G>A, p.(Gly12Asp) as the molecular cause of clinically confirmed overgrowth syndrome in a 10-year-old child. Identification of the KRAS variant may lead to new therapeutic options.

MGZ´s Liquid Biopsy Analyses for Benign Tumor Diseases at a Glance


Highly sensitive duplex sequencing (no standard NGS analysis)
Limit of detection: 0.5 % tumor variant in plasma

Therapeutic relevance


Mosaic diseases - overgrowth syndromes AKT3, BRAF, CCND2, EPHB4, FGFR1, GNA11, GNAQ, GNAS, HRAS, KRAS, MAP2K1, MTOR, NRAS, PIK3CA, PIK3R2, RASA1, SMO


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