Clinicopathologic and mutational profiles of primary breast diffuse large B cell lymphoma in a male patient: case report and literature review

Table 1 Tumor-specific mutation in this primary breast diffuse large B cell lymphoma in male

Tumor-specific mutations^a Gene	Variation	Mutant type	Mutation abundance^b
BCL6	IGH ~ BCL6 fusion	IGH ~ BCL6: exon2	37.00%
TNFAIP3	p.E452* Exon 7 nonsense mutation	c,1354G > T(p.E452*)	67.40%
PRDM1	p.G100Efs*11 the 3rd exon frameshift mutation	C.299_324del(p.G100Efs*11)	8%
CREBBP	p.M1798I the 31st exon missense mutation	c,5394G > T(p.M1798I)	40.10%
DTX1	p.N13S the 1st exon missense mutation	c.38A > G(p.N13S)	41.80%
DTX1	p.G16A the 1st exon missense mutation,	c.47G > C(p.G16A)	41.20%
FOXO1	p.Y196C the 1st exon missense mutation	c.587A > G(p.Y196C)	10.10%

^aTumor-specific mutations are defined as those contained in tumor cells that are not germline mutations and are not heritable
^bMutation abundance is defined as the specific proportion of mutant alleles in all alleles at the site

ISSN: 1477-7819