Table 1 Clinical, hematological, cytogenetic, and molecular data in TERTP-positive cases (UPN refers to Supplementary Table 2).

From: Activating somatic and germline TERT promoter variants in myeloid malignancies

CASE (DNA tested)

Sex

Age

Diagnosis/IPSS-R/CPSS

Myeloid gene panel (VAF%)a

BM karyotype

TERTP rs2853669 T>C

TERTP (status, germline DNA tested)

Telomere gene PANELa (rs, VAF%), ACMG classification

Disease course (follow-up, months; death cause)

UPN #42 (BM)

M

77

MDS-RS-SLD/low

SF3B1 c.2098 A>G, p.K700E (38.5%)

TET2 c.4957_4958del, p.S1653fs*6 (18.4%)

EZH2 c.2069 G>A; p.R690H (22.7%); c.437T>C, p.I146T (2.3%)

46,XY[16]

T/T

c.1-78T>C (rs1467435130) (germline, CD3+ PB cells)

neg

Stable (died, 57; sepsis)

UPN #166 (BM)

M

72

MDS-MLD/high

EZH2 c.1505+3delG (33.6%)b

ASXL1 c.2061T>A, p.C687* (35.2%)

ETV6 c.1228_1229delinsCC, p.E410P (27.4%)

CEBPA c.1000G>A, p.E334K (28%)

47,XY,+8[3]/46,XY[16]

T/C

c.1-71G>C (germline, BM fibroblasts) in cis with rs2853669 T

RECQL4 c.2561C>T, p.Thr854Ile (rs1167531855, 52%), LB

TERT c.630C>T, p.A210= (rs1164854748, 50.9%), VUS

Evolution (died, 21)

UPN #199 (BM)

M

80

MDS-MLD/low

ETV6 c.215G>A, p.W72* (1.6%)

DNMT3Ac.2082+3A>G (11.1%)b

CSF3R c.1358A>G, p.N453S (48.4%)c

46,XY[20]

C/C

c.1-110_1-101dupAGCCCCTCCC (na) in cis with rs2853669 C

RIF1 c.5856T>C, p.Ser1952= (rs756019996, 48.5%), VUS

TERT c.3107-4G>A (rs780229179, 46.8%) LB

Stable (died, 24; comorbidities)

UPN #203 (BM)

M

74

CMML-0d/low

TET2 c.5659_5663dupe, p.Asn1888Lysfs*22 (92.9%)

46,XY[20]

T/T

c.1-124C>Te (somatic, CD3+ PB cells, nail cuttings)

TERF2 c.973A>G, p.Ile325Val (rs772066928, 49.6%), VUS

Stable (+58)

UPN #269 (BM)

F

72

MDS-SLD/low

TET2 p.Asn1346Ilefs*17, c.4037del (24.6%)

46,XX[20]

T/T

c.1-124C>A (somatic, CD3+ PB cells, nail cuttings)

DKC1 c.1497_1499dup, p.K500dup (rs797045523, 38.2%), B

RAD50 c.3113_3116del, p.Arg1038Asnfs*4 (52.5%), P

Stable (+48)

UPN #277 (BM)

F

55

MDS with isolated del(5q)/low

MPL c.1537_1539del, p.L513del (1.9%)

46,XX,del(5)(q13q31)[18]

T/C

c.1-124C>T (na) in cis with rs2853669 C

neg

Evolution (died, 138)

  1. UPN unique patient number, BM bone marrow, PB peripheral blood, VAF variant allele frequency, M male, F female, IPSS-R revised international prognostic scoring system, CPSS chronic myelomonocytic leukemia-specific prognostic scoring system, MDS-RS-SLD myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia, MDS-MLD myelodysplastic syndrome with multilineage dysplasia, CMML-0 chronic myelomonocytic leukemia, type 0, MDS-SLD myelodysplastic syndrome with single lineage dysplasia, na not available data, WT wild type, neg negative, ACMG American College of Medical Genetics (see Supplementary Methods), VUS variant of uncertain significance, B benign variant, LB likely benign variant, P pathogenetic variant.
  2. aSee Supplementary Methods.
  3. bBroken wild type splice site according to Human Splice Finder 3.1 (http://umd.be/HSF3/).
  4. cPutative germline variant.
  5. dSeventy-two months after diagnosis of diffuse large B-cell lymphoma (DLBCL) stage IIIB.
  6. eFound at both DLBCL and CMML diagnosis.
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