Table 3. Summary of PRDM1 alterations in... | American Society of Hematology

Table 3.

Summary of PRDM1 alterations in DLBCL cases

PRDM1 gene mutations	PRDM1 RNA aberrations			PRDM1 protein alterations			IHC
PRDM1 gene mutations			α	β	α	β	BCL6	CD10	IRF4	Non-GCB/GCB	HS	AD	WT
1	NA	‡525G>A & ^§Ins 103 nt int 2 seq	-	Del 62-789	-	+	-	+	Non-GCB	IB	+	-
2	Int 3 + 1G>T	Int 3 + 1G>T & ^§Ins Int 3 seq*	-	Del 102-789	-	+	-	+	Non-GCB	IB	+	-
		^§Δexon 3		Del 62-101 (ΔPR)	-
3	Del 466-469	Del 466-469	-	Del 42-789	-	+	-	+	Non-GCB	IB	+	-
4	NA	‡Int 6 +2U>A &	Same as α	Del 599-789 (ΔZF nos. 3-5)	Same as α	+	-	+	Non-GCB	IB	-	+
		^§Ins 49 nt int 6 seq
5	525G>A	525G>A & ^§Ins 103 nt int 2 seq	-	Del 62-789	-	-	-	+	Non-GCB	CB	+	-
6	Int 2 + 2U>G	Int 2 + 2U>G &	-	Del 62-789	-	+	-	+	Non-GCB	CB	-	-
		^§Ins 103 nt int 2 seq
7	525G>A	525G>A & ^§Ins 103 nt int 2 seq	-	Del 62-789	-	+	-	+	Non-GCB	CB	-	†
8	525G>A	525G>A & ^§Ins 103 nt int 2 seq	-	Del 62-789	-	+	-	+	Non-GCB	CB	+	-

PRDM1 gene mutations	PRDM1 RNA aberrations			PRDM1 protein alterations			IHC
PRDM1 gene mutations			α	β	α	β	BCL6	CD10	IRF4	Non-GCB/GCB	HS	AD	WT
1	NA	‡525G>A & ^§Ins 103 nt int 2 seq	-	Del 62-789	-	+	-	+	Non-GCB	IB	+	-
2	Int 3 + 1G>T	Int 3 + 1G>T & ^§Ins Int 3 seq*	-	Del 102-789	-	+	-	+	Non-GCB	IB	+	-
		^§Δexon 3		Del 62-101 (ΔPR)	-
3	Del 466-469	Del 466-469	-	Del 42-789	-	+	-	+	Non-GCB	IB	+	-
4	NA	‡Int 6 +2U>A &	Same as α	Del 599-789 (ΔZF nos. 3-5)	Same as α	+	-	+	Non-GCB	IB	-	+
		^§Ins 49 nt int 6 seq
5	525G>A	525G>A & ^§Ins 103 nt int 2 seq	-	Del 62-789	-	-	-	+	Non-GCB	CB	+	-
6	Int 2 + 2U>G	Int 2 + 2U>G &	-	Del 62-789	-	+	-	+	Non-GCB	CB	-	-
		^§Ins 103 nt int 2 seq
7	525G>A	525G>A & ^§Ins 103 nt int 2 seq	-	Del 62-789	-	+	-	+	Non-GCB	CB	-	†
8	525G>A	525G>A & ^§Ins 103 nt int 2 seq	-	Del 62-789	-	+	-	+	Non-GCB	CB	+	-

Numbering of cDNA nucleotide and amino acid is based on sequence data NM_001198 and AAC33300.1, respectively.

Intronic sequence number refers to the nucleotide number from the 5′ end of the intron. For example, int 6 + 2 indicates the second nucleotide of intron 6.

Ins indicates insertion; Del, deletion; int, intron; IHC, immunohistochemistry; HS, histology; AD, allelic deletion; WT, wild-type allele expression; GCB, germinal center B-cell phenotype; IB, immunoblastic; and CB, centroblastic.

The exact length of intronic sequence included was not determined.

†

Very low levels detected, possibly from normal contaminating cells.

‡

RNA editing.

Splicing aberrations.

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