Table 1. Somatic mutations in the MPNST discovery set.
Sample |
NF1 germline mutation |
NF1 somatic mutation |
NF1 MAF (%) |
SUZ12 somatic mutation |
SUZ12 MAF (%) |
Somatic deletions on chromosome 17 |
Other chromatin- modifying gene somatic mutations |
Other driver gene mutations of interest |
---|---|---|---|---|---|---|---|---|
MPNST 01 | NC_000017.10: g.26327000_33008000del | |||||||
MPNST 02 | NA | NM_003797.3 (EED):c.134delA | NM_000268.3 (NF2): c.552G>A | |||||
MPNST 04 | NM_000267.3: c.7806+2T>C | 85 | NM_015355.2: c.252delG | 100 | NC_000017.10: g.57703000_8211000del | |||
MPNST 05 | NM_000267.3: c.5242C>T | 88 | NM_015355.2: c.1995_1996insC | 79 | ||||
MPNST 06a | NM_000267.3: c.6362delG | 66 | NM_015355.2: c.[333delG(;)334C>A] | 100 | ||||
MPNST 08 | NA | NM_000267.3: c.6580–19delAGA GTATCCCCTTTTTTA | 12 | NM_001272004.1 (EPC1): c.330delT | NM_000489.4 (ATRX): c.1230delA | |||
MPNST 09 | NA | NM_001273.3 (CHD4): c.1358G>A | ||||||
MPNST 10 | NM_000267.3: c.2027_2028insC | NM_015355.2: c.1940delTAAT | 23 | NC_000017.10: g.25533000 30513000del |
MAF, mutant allele fraction; NA, not applicable.
Sections of this tumor were available for immunohistochemistry and were shown to be negative for staining with antibodies to both SUZ12 and H3K27me3.