Table 2 Fibromas of tendon sheath with a USP6 gene fusion detected by targeted RNA sequencing.

From: Fibroma of tendon sheath is defined by a USP6 gene fusion—morphologic and molecular reappraisal of the entity

Case

Sex/age (years)

Site

Cellularity

Type

Fusion

Exon–exon junction

Breakpoint (hg19 coordinates)

Number and percentage of reads

RefSeq accession number of partner gene

#1

M/55

Finger

Hypocellular sclerotic (40%), low (60%)

Classic

COL1A1-USP6

exon1–exon1 exon1–exon2 exon1–exon1

chr17:48278772, chr17:5033231 chr17:48278772, chr17:5033662 chr17:48278772, chr17:5033384

7216 (73.2%) 789 (3.8%) 20 (0.1%)

NM_000088.3

#2

M/40

Finger

Hypocellular sclerotic (10%), low (60%), medium/high (30%)

Cellular

NR1D1-USP6

exon1–exon1 exon1–exon2

chr17:38256317, chr17:5033231 chr17:38256317, chr17:5033662

1832 (73.9%) 45 (1%)

NM_021724.4

#3

M/59

Wrist

Hypocellular sclerotic (20%), low (40%), medium/high (40%)

Cellular

ASPN-USP6

exon1–exon1 exon1–exon2

chr9:95244575, chr17:5033231 chr9:95244575, chr17:5033662

2567 (54.3%) 26 (0.2%)

NM_017680.4

#4

M/63

Finger

Low (30%), medium/high (70%)

Cellular

MYH9-USP6

exon1–exon1 exon1–exon2

chr22:36783852, chr17:5033231 chr22:36783852, chr17:5033662

1721 (73.5%) 2505 (31.9%)

NM_002473.4

#5

F/43

Finger

Hypocellular sclerotic (20%), low (70%), medium/high (10%)

Classic

MYH9-USP6

exon1–exon1 exon1–exon2

chr22:36783852, chr17:5033231 chr22:36783852, chr17:5033662

957 (74.6%) 297 (6.1%)

NM_002473.4

#6

M/48

Finger

Low (20%), medium/high (80%)

Cellular

MIR22HG-USP6

exon1–exon1

chr17:1619427, chr17:5033382

46 (1.5%)

NR_028502.1

#7

M/68

Finger

Low (40%), medium/high (60%)

Cellular

COL1A1-USP6

exon1–exon1

chr17:48278772, chr17:5033231

225 (17.7%)

NM_000088.3

#8

M/32

Hand

Hypocellular sclerotic (60%), low (40%)

Classic

ASPN-USP6

exon1–exon1

chr9:95244575, chr17:5033231

407 (76.1%)

NM_017680.4

#9

M/10

Foot

Low (20%), medium/high (80%)

Cellular

COL1A1-USP6

exon1–exon1 exon1–exon2

chr17:48278772, chr17:5033231 chr17:48278772, chr17:5033662

1573 (80.6%) 95 (1.4%)

NM_000088.3

#10

F/39

Finger

Low (90%), medium/high (10%)

Classic

SPARC-USP6

exon1–exon1 exon1–exon1 intron1–exon1

chr5:151066426, chr17:5033231 chr5:151066426, chr17:5032168 chr5:151065644, chr17:5032130

12 (1.4%) 8 (2.3%) 56 (48.3%)

NM_003118.3

#11

F/43

Finger

Low (30%), medium/high (70%)

Cellular

ASPN-USP6

exon1–exon1

chr9:95244575, chr17:5033231

123 (61.8%)

NM_017680.4

#12

M/30

Finger

Low (80%), medium/high (20%)

Cellular

CAP1-USP6

exon1–exon1 intron1–exon1

chr1:40506455, chr17:5033231 chr1:40507165, chr17:5033231

7 (14.6%) 21 (53.8%)

NM_006367.3

#13

M/46

Hand

Hypocellular sclerotic (20%), low (60%), medium/high (20%)

Cellular

RAB1A-USP6

exon1–exon1

chr2:65357027, chr17:5033231

10 (35.7%)

NM_004161.4

#14

F/40

Finger

Hypocellular sclerotic (20%), low (40%), medium/high (40%)

Cellular

LINC00152-USP6

exon1–exon1

chr2:87755164, chr17:5033231

21 (95.5%)

NR_024204.1

#15

M/31

Hand

Hypocellular sclerotic (40%), low (60%)

Classic

EMP1-USP6

exon1–exon1 exon1–exon2

chr12:13349806, chr17:5033231 chr12:13349806, chr17:5033662

12 (70.6%) 34 (12.7%)

NM_001423.2

#16

F/5

Hand

Hypocellular sclerotic (20%), low (80%),

Classic

MYH9-USP6

exon1–exon1 exon1–exon2

chr22:36783852, chr17:5033231 chr22:36783852, chr17:5033662

44 (83%) 66 (7.6%)

NM_002473.4

#17

M/61

Hand

Hypocellular sclerotic (10%), low (70%), medium/high (20%)

Cellular

CTNNB1-USP6

exon1–exon1 exon1–exon2

chr3:41241140, chr17:5033209 chr3:41241161, chr17:5033662

7 (46.7%) 8 (1.5%)

NM_001904.3

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