To the Editor,
1.
Telomere biology disorders (TBDs) are characterized by critically shortened telomere lengths (TL) with multiorgan involvement [1]. Hematologic manifestations are frequent and include cytopenias, bone marrow failure (BMF), and an increased risk of malignancy, with observed‐to‐expected (O:E) ratios of 49.50 and 529.70 for acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), respectively [2, 3, 4].
Emerging evidence over the past decade highlights the fitness constraints imposed by shortened telomeres on hematopoietic stem and progenitor cells (HSPC), creating strong selective pressure for clonal lineages that escape these constraints [1, 5]. This is reflected by the heightened incidence of clonal hematopoiesis (CH) in TBD patients compared to the general population (e.g., CH frequency of 55% vs. 16% for TBD patients and age‐matched healthy donors [age range 41–70 years], respectively) [6]. Over time, this context‐dependent CH may result in a spectrum of adaptive or maladaptive outcomes, ranging from partial or complete phenotypic rescue to the development of MDS or AML (Figure 1A) [6, 7].
FIGURE 1.
Somatic mosaicism and the pathogenic somatic landscape of the TBD cohort. (A) Schematic of somatic mosaicism and the different pathways of clonal evolution after pressure is placed on a hematopoietic stem and progenitor cell (HSPC). In the figure, the HSPC (found in the bone marrow) can acquire somatic events (blue boxes) that either lead to adaptive, maladaptive, or unknown outcomes. This can be through phenomena like copy‐neutral‐loss‐of‐heterozygosity or back mutations, where there is complete restoration of normal hematopoiesis. Other compensatory variants can attempt to restore normal hematopoiesis, or lead to hematologic malignancy. (B) Oncoplot depicting pathogenic somatic landscape of TBD cohort. Light blue boxes depict the presence of one variant in the corresponding gene, dark blue boxes depict the presence of two different variants in the corresponding gene, white boxes depict that no variants were found in the corresponding gene, and gray boxes depict that testing was not performed for the corresponding genes. (C) Sankey diagrams of blood counts (hemoglobin and platelets) and bone marrow cellularity at diagnosis of TBD (left) and at last follow up (right). A majority of the patients cluster around the normal blood counts at diagnosis and follow up, and all of the highest‐grade cytopenias improve over time. CTCAE, Common Terminology Criteria for Adverse Events; HSPC, hematopoietic stem and progenitor cell; pTERT, promotor TERT; TBD, telomere biology disorder.
Within this framework, gain‐of‐function TERT promoter (pTERT) variants have been proposed as adaptive somatic events in TBD that may confer protection against severe hematopoietic disease phenotypes [8, 9]. This hypothesis is particularly noteworthy because pTERT variants are classically recognized as oncogenic drivers in cancers, such as melanoma and glioblastoma, where they facilitate uncontrolled proliferation through telomerase reactivation in otherwise telomere‐intact cells [10, 11, 12]. Mechanistically, pTERT variants arise in noncoding regions upstream of the TERT transcription start site and generate new transcription factor binding motifs, leading to upregulation of the wild‐type TERT allele [10]. The discovery of this mechanism reshaped our understanding of oncogenesis and led to broader investigation into telomerase regulation across tumor types [10]. Interestingly, pTERT variants are uncommon in hematologic malignancies and BMF syndromes, making their enrichment in TBD compelling [9, 13]. This observation raises fundamental questions about the role and mechanism underlying pTERT variants in TBD. To address this, we systematically characterized the molecular features, clinical phenotypes, and hematologic trajectories of adult TBD patients with somatic pTERT variants. We aimed to define the clinical consequences of this subgroup and highlight the importance of understanding the context‐specific role of CH in these patients.
Following institutional review board approval, we identified TBD patients with somatic pTERT variants from Mayo Clinic, University of Pennsylvania, University of Wisconsin–Madison, and Vall d'Hebron University Hospital (Spain) using multiple methods including CLIA‐approved or error‐corrected, high‐depth research‐based NGS with manual review (Mayo, UPenn, Spain), whole‐exome sequencing (UPenn), or long‐read sequencing (UWMadison). TBD patients were defined as individuals with at least one cardinal TBD‐defining clinical feature (BMF, interstitial lung disease, and/or hepatic cirrhosis/portosinusoidal vascular disorder) together with lymphocyte TLs ≤ 10th percentile and a TBD‐associated gene variant classified as a variant of uncertain significance, likely pathogenic, or pathogenic. Patients without a TBD‐associated gene variant were included only if they had very short lymphocyte TLs (< 1st percentile). Clinical data were abstracted from the medical record. GraphPad Prism (GraphPad Software, Boston, MA) and BioRender (https://BioRender.com) were used to develop figures. Granular genetic and clinical data for each patient in the cohort are reported in Table S1.
There were 29 (16%) adult TBD patients (20 male, 69%) included out of 185 TBD patients tested, with a median age of 58 years (range 32–74 years) at CH testing. Twenty‐eight individuals had short TLs (one with no TL measurement) relative to age‐adjusted percentiles by flow‐FISH, and 20 individuals (69%) had very short TLs (< 1st percentile) in lymphocytes (n = 14) and/or granulocytes (n = 19). Twenty‐five patients (86%) had identifiable germline variants in TBD‐associated genes (10 Pathogenic and 16 Variants of Uncertain Significance (VUS)—American College of Medical Genetics and Genomics (ACMG)): TERT (n = 14), RTEL1 (n = 6), NAF1 (n = 3), TERC (n = 2), PARN (n = 1) (Table 1).
TABLE 1.
Clinical, germline, cytogenetic, and somatic characteristics of cohort stratified by progression to myelodysplastic syndrome.
| No evidence of progression (n = 25) | Evidence of progression (n = 4) | Statistical test (p value) | |
|---|---|---|---|
| Sex, n (%) | Male, 19 (76%) | Male, 1 (25%) | 0.076 a |
| Median age at CH testing [range] | 60 years [32–74] b | 53 years [51–59] | 0.249 c |
| MDS or AML, n (%) | NONE |
MDS, 4 (100%) AML, 0 (0%) |
— |
| Cytogenetic changes |
1. 46,XY,+1,der(1;21)(q10;q10) [2]/46,XY [7] 2. 46,XY,inv.(9)(p12q13)c[20] 3. 47,XY,+8[8]/46,XY [12] Total: 3 (12% group) d |
1. 47,XX,t(1;5)(q12;q11.2),+der(5)t(1;5) [5]/46,XX [15] 2. 46,XX,der(18)t(1;18)(q11;p11)[20] 3. del(5q), monosomy 12 and der(13)t(12;13) Total: 3 (75% group) d |
0.020 a |
| Germline variants, n (%) |
TERT, 13 (52%) NONE, 4 (16%) RTEL1, 3 (12%) NAF1, 2 (8%) TERC, 2 (8%) PARN, 1 (4%) |
RTEL1, 3 (75%) TERT, 1 (25%) NAF1, 1 (25%) |
Significance only in presence of RTEL1 variant (0.020 a ) |
| pTERT variants, n (%) |
−124C > T only, 13 (52%) −57A > C only, 8 (32%) −124C > T AND −146C > T, 2 (8%) −124C > T AND −57A > C, 2 (8%) |
−124C > T only, 2 (50%) −57A > C only, 2 (50%) |
— |
| pTERT VAF median [range] | 7.0% [0.6%–48%] | 1.35% [1%–3%] | 0.0188 c |
| Patients with > 1 pTERT variant (%) | 4 (16%) | 0 (0%) | 1.00 a |
| Patients with only pTERT variants (no other somatic) (%) | 13 (52%) | 0 (0%) | 0.107 a |
| Somatic landscape [median VAF], n (%) |
PPM1D [2.15%], 8 (32%) DNMT3A [8%], 3 (12%) U2AF1 [5.6%], 2 (8%) ASXL1 [1%], 1 (4%) |
SF3B1 [26.9%], 2 (50%) PPM1D [16%], 1 (25%) ZRSR2 [35%], 1 (25%) TP53 [7%], 1 (25%) ASXL1 [21%], 1 (25%) |
Significance only in presence of SF3B1 variant (0.016 a ) |
| Evidence of cytopenias, n (%) | 16 (64%) | 4 (100%) | 0.280 a |
| Increase in grade of cytopenia in at least one cell lineage (from diagnosis to last follow up) | 10 (40%) | 3 (75%) | 0.299 a |
| Evidence of bone marrow hypocellularity | 8 (32%) | 1 (25%) | 1.00 a |
Note: The pTERT VAF comparison is exploratory. In the nonprogression group, four patients contributed two separate pTERT variant VAF values, so the analysis used 27 observed VAF values from 23 patients with available data, rather than one independent value per patient. Two nonprogressor patients had no reported.
p values for categorical variables were calculated using two‐sided Fisher's exact test.
One patient in the nonprogression cohort did not have age available; age comparison used n = 24 for the nonprogression group and n = 4 for the progression group.
p values for continuous variables were calculated using two‐sided Mann–Whitney U test.
“Any reported cytogenetic abnormality” was coded based on the number of patients with listed abnormal cytogenetic findings: 3/25 in the nonprogression group and 3/4 in the progression group.
The pTERT variants clustered at three hotspots: c.‐124C > T (n = 19, median variant allele fraction (VAF) 6% [range 0.6%–48%]), c.‐57A > C (n = 12, median VAF 5.5% [range 1.5%–28%]), and c.‐146C > T (n = 2, median VAF 12.45% [range 1.2%–23.7%]). Four individuals had > 1 pTERT variants: two with −124C > T and −146C > T, and two with −124C > T and −57A > C. The remaining somatic landscape included variants in PPM1D (n = 8, median VAF 2.4%), DNMT3A (n = 3, median VAF 8%), SF3B1 (n = 2, VAFs 20% and 33.7%), U2AF1 S34F (n = 2, VAFs 3.1% and 8.1%), ASXL1 (n = 2, VAFs 1.0% and 21%), ZRSR2 (n = 1, VAF 35%), and TP53 (n = 1, VAF 7.0%) (Figure 1B).
Sankey diagrams outline longitudinal changes in blood counts and bone marrow cellularity (Figures 1C and S1). Out of 25 patients with an available bone marrow biopsy, 5 (20%) individuals had an abnormal karyotype, with one individual thought to have a constitutional inversion (9)(p12q13) (Table 1). Median follow‐up time was 24 months (range 4–127 months). At last follow‐up, there were seven deaths and four individuals had progressed to MDS (median age 53 [range 51–59] years). Among these four individuals, three had RTEL1‐related TBD and one had NAF1‐related TBD, all with very small pTERT clones (median VAF 1.35% [range 1%–3%]), and larger somatic ZRSR2 (VAF 35%), SF3B1 (VAFs 33.7% and 20%), PPM1D (VAF 16%), ASXL1 (VAF 21%), and TP53 (VAF 7%) co‐mutations. There were no progression events to AML. Seven of 8 (87.5%) patients with co‐mutant pTERT and PPM1D had no evidence for progression to MDS/AML, consistent with recent data published on PPM1D [6, 14]. Patients without progression to MDS (n = 25), compared with those with (n = 4), were older at CH testing (median 60 vs. 53 years; p = 0.249), more likely to harbor multiple pTERT variants (4 [16%] vs. 0; p = 1) or isolated pTERT variants (13 [52%] vs. 0; p = 0.107) and had a higher median pTERT VAF (7.0% [range 0.6%–48%] vs. 1.35% [range 1%–3%]; p = 0.0188). They also had a lower frequency of cytogenetic changes (12% vs. 75%; p = 0.020) and cytopenias (16 [64%] vs. 4 [100%]; p = 0.280).
Among 29 patients, 21 (72%) had interstitial lung disease, five (17%) had liver cirrhosis, nine (31%) visceral malignancies, 14 (48%) low bone density, and 16 (55%) other TBD manifestations (early graying of hair, leukoplakia, nail dystrophy, etc.). Twelve (41%) patients underwent transplants (10 lung, one liver, one autologous marrow for multiple myeloma), with eight (66%) being alive at last follow‐up (Table 2 and S2).
TABLE 2.
Clinical phenotypes of TBD cohort.
| Patient ID | Patient | Interstitial lung disease | Any hepatic involvement besides cirrhosis (isolated transaminitis, nodular regenerative hyperplasia, portal HTN) | Cirrhosis | Solid tumor neoplasm | Low bone mineral density | Other relevant manifestations |
|---|---|---|---|---|---|---|---|
| Mayo01 | 1 | Y | Portal HTN | Y | Skin BCC | Y | N |
| Mayo02 | 2 | Y | Transaminitis | Y | N | N | Early graying, nail dystrophy |
| Mayo03 | 3 | N | N | N | N | Y | Early graying |
| Mayo04 | 4 | Y | Portal HTN | Y | N | Y | Early graying |
| Mayo05 | 5 | Y | N | N | N | N | Early graying |
| Mayo06 | 6 | N | N | N | Tongue SCC | Y | N |
| Mayo07 | 7 | Y | N | N | Skin SCC and BCC | N | Early graying, leukoplakia |
| Mayo08 | 8 | N | Liver fibrosis | N | Penile SCC | N | N |
| Mayo09 | 9 | Y | N | N | N | Y | Nail dysplasia, leukoplakia |
| Penn‐DC14 | 10 | Y | N | Y | N | Unknown | Dental abnormalities and early graying |
| Penn‐DC16 | 11 | Y | Transaminitis | N | N | Unknown | Early graying |
| Penn‐DC21 | 12 | Y | N | N | Malignant neoplasm of nasal cavity | N | Early graying |
| Penn‐DC22 | 13 | Y | N | N | N | N | N |
| UW001 | 14 | N | Hepatic steatosis | N | N | Y | Early graying, skin hypopigmentation |
| 7569‐522.01 | 15 | Y | Transaminitis | Y | Skin SCC and BCC | Y | Early graying |
| UW033 | 16 | Y | N | N | N | Y | Early graying, nail dystrophy, skin hypopigmentation |
| UW035 | 17 | Y | N | N | N | N | N |
| UW006 | 18 | Y | N | N | Lung carcinoid | Y | Early graying, oral leukoplakia, nail dystrophy |
| Mayo10 | 19 | N | N | N | N | Y | Urethral stenosis within the first year of life |
| Mayo11 | 20 | N | Liver fibrosis with portal HTN | N | N | N | N |
| Mayo12 | 21 | Y | N | N | N | Y | Leukoplakia |
| Mayo13 | 22 | Y | N | N | Skin SCC and BCC | Y | Nail dystrophy |
| Mayo14 | 23 | Y | N | N | N | Y | N |
| UCHG‐0165‐06 | 24 | Pending evaluation | Pending evaluation | N | N | N | Unknown |
| UCHG‐0165‐01 | 25 | Y | Portosinusoidal vascular disease with portal HTN | N | N | N | Unknown |
| UCHG‐0165‐02 | 26 | Y | Portosinusoidal vascular disease with portal HTN | N | N | N | Unknown |
| UCHG‐0001‐01 | 27 | Y | Hepatic fibrosis | N | N | Y | Unknown |
| UCHG‐0131‐01 | 28 | Y | Abnormal liver function tests | N | Skin BCC | NA | Unknown |
| UCHG‐0001‐05 | 29 | N | N | N | N | N | Unknown |
Abbreviations: BCC, basal cell carcinoma; HTN, hypertension; N, no; NA, not available; Portal HTN, portal hypertension; SCC, squamous cell carcinoma; Transaminitis, elevated liver transaminases; Y, yes.
Prior studies have reported somatic pTERT variants in TBDs with associated clinical correlations; however, a dedicated cohort specifically designed to characterize the longitudinal clinical trajectory of these patients has been lacking [6, 8, 9]. In this multi‐institutional study, we identified 29 such patients and observed: (1) Outcomes were heterogeneous, with frequent mild or stable cytopenias but limited progression to hematological malignancy (MDS 13.7%, AML 0%). (2) In the four observed cases of MDS progression, the pTERT variants comprised minor clones, while known oncogenic driver mutations (SF3B1, ZRSR2, and TP53) comprised dominant clones (however, without serial time points and single cell sequencing, clonal hierarchy and cell specific mutational status could not be defined). (3) PPM1D variants frequently co‐occurred with pTERT variants and in most cases did not lead to MDS progression. (4) There were no cases of MDS progression in patients with > 1 pTERT variants or in patients that only had isolated pTERT variants. Additionally, when restricting the cohort to patients with pathogenic or likely pathogenic germline TBD variants, no cases of progression to MDS/AML were observed in the presence of somatic pTERT variants (Table S3).
There are important translational implications to this work. We offer support to the idea that somatic pTERT variants may be protective in TBD, helping to stabilize bone marrow and attenuate progression to MDS/AML. However, our data further develop this hypothesis and suggest that pTERT variants may be associated with a favorable hematopoietic phenotype when they occur in isolation (without other somatic variants), at a higher burden (VAF), with multiple somatic pTERT variants, or in the context of a less adverse somatic landscape. Accordingly, risk assessment in these patients should focus on complex clonal compositions, clonal positions, and clonal dynamics.
Limitations of our study include the inherently modest sample size, despite collaboration with multiple centers, which reflects the rarity of TBDs and the even less common occurrence of somatic pTERT variants within this population. Despite this constraint, our cohort represents, to our knowledge, one of the largest systematically characterized cohorts focused specifically on this subgroup of patients, addressing an important gap in the current literature [6, 8, 9, 15, 16]. We also did not include functional pTERT testing, although prior studies have shown that hotspot variants (−124C > T, −146C > T, −57A > C) can lead to TERT gain‐of‐function, supporting the biologic plausibility of our observations [8, 17]. These limitations do not diminish the clinical relevance of these findings, as recognizing the potentially adaptive pTERT variants may have immediate implications for risk stratification, surveillance strategies, and organ transplant evaluation in TBD patients.
Our findings aim to refine the current understanding of clonal mechanisms shaping the clinical trajectory of TBD patients. Collectively, our data suggest that pTERT variants in TBD may be associated with a more favorable hematopoietic state in some patients but are not sufficient in themselves to prevent malignant progression. We provide detailed, longitudinal characterization of lineage‐specific cytopenias and other phenotypes to highlight the nuanced clonal dynamics in TBD patients. Further studies are needed to build upon and validate this work.
Author Contributions
M.F., A.F., and M.M.P. designed and wrote the manuscript. M.F. collected the data and performed the analysis. R.K., B.B., A.Z., J.E.C., D.V.B., T.L., T.K., O.O., A.M., S.T.‐E., P.A., S.N.‐J., M.J.M., and A.J. collected and contributed data for the study and reviewed the manuscript.
Funding
The authors have nothing to report.
Ethics Statement
This study was approved by the Institutional Review Board and conducted in accordance with applicable ethical standards.
Consent
Written informed consent was obtained from all participants, as applicable.
Conflicts of Interest
M.M.P. has received research funding from Kura Oncology, StemLine pharmaceuticals, Polaris, Epigenetix, and Solutherapeutics. He has served on the advisory board for AstraZeneca, GSK, and CITI/SOBI. D.V.B. has received consulting compensation from RetroBio. The other authors declare no conflicts of interest.
Supporting information
Table S1: Spectrum of adaptive CH in patients with TBDs and somatic promoter TERT mutations.
Table S2: Transplant information.
Figure S1: Remaining Sankey plots. Above are Sankey plots demonstrating the longitudinal hematologic trajectories for leukocytes (left) and macrocytosis (right) in TBD patients with somatic TERT promoter mutations. Initial time point is “at diagnosis,” which is the best estimated time of TBD diagnosis. “At follow‐up” is the time of last follow‐up for these patients. Median time in between these two points was 24 months. CTCAE, Common Terminology Criteria for Adverse Events.
Table S3: Sub analysis.
Acknowledgments
We would like to deeply thank our patients and their families for agreeing to be a part of this work.
Data Availability Statement
The data that support the findings of this study are available from the corresponding author upon reasonable request.
References
- 1. Calado R. T. and Young N. S., “Telomere Diseases,” New England Journal of Medicine 361, no. 24 (2009): 2353–2365. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 2. Maillet F., Galimard J. E., Borie R., et al., “Haematological Features of Telomere Biology Disorders Diagnosed in Adulthood: A French Nationwide Study of 127 Patients,” British Journal of Haematology 205, no. 5 (2024): 1835–1847. [DOI] [PubMed] [Google Scholar]
- 3. Niewisch M. R., Kim J., Giri N., Lunger J. C., McReynolds L. J., and Savage S. A., “Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders,” JAMA Network Open 7, no. 12 (2024): e2450111. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 4. Alter B. P., Giri N., Savage S. A., and Rosenberg P. S., “Cancer in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort After Fifteen Years of Follow‐Up,” Haematologica 103, no. 1 (2018): 30–39. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 5. Kirschner K., Kusne Y., Cargo C., and Patnaik M. M., “Clonal Haematopoiesis to Clonal Cytopenias: Unravelling Disease Evolution Over Time,” Lancet Haematology 12, no. 8 (2025): e650–e661. [DOI] [PubMed] [Google Scholar]
- 6. Gutierrez‐Rodrigues F., Groarke E. M., Thongon N., et al., “Clonal Landscape and Clinical Outcomes of Telomere Biology Disorders: Somatic Rescue and Cancer Mutations,” Blood 144, no. 23 (2024): 2402–2416. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 7. Lasho T. and Patnaik M. M., “Adaptive and Maladaptive Clonal Hematopoiesis in Telomere Biology Disorders,” Current Hematologic Malignancy Reports 19, no. 1 (2024): 35–44. [DOI] [PubMed] [Google Scholar]
- 8. Maryoung L., Yue Y., Young A., et al., “Somatic Mutations in Telomerase Promoter Counterbalance Germline Loss‐Of‐Function Mutations,” Journal of Clinical Investigation 127, no. 3 (2017): 982–986. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 9. Schratz K. E., Gaysinskaya V., Cosner Z. L., et al., “Somatic Reversion Impacts Myelodysplastic Syndromes and Acute Myeloid Leukemia Evolution in the Short Telomere Disorders,” Journal of Clinical Investigation 131, no. 18 (2021): e147598, 10.1172/JCI147598. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 10. Huang F. W., Hodis E., Xu M. J., Kryukov G. V., Chin L., and Garraway L. A., “Highly Recurrent TERT Promoter Mutations in Human Melanoma,” Science 339, no. 6122 (2013): 957–959. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 11. Killela P. J., Reitman Z. J., Jiao Y., et al., “TERT Promoter Mutations Occur Frequently in Gliomas and a Subset of Tumors Derived From Cells With Low Rates of Self‐Renewal,” Proceedings of the National Academy of Sciences of the United States of America 110, no. 15 (2013): 6021–6026. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 12. Borah S., Xi L., Zaug A. J., et al., “Cancer. TERT Promoter Mutations and Telomerase Reactivation in Urothelial Cancer,” Science 347, no. 6225 (2015): 1006–1010. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 13. Mosrati M. A., Willander K., Falk I. J., et al., “Association Between TERT Promoter Polymorphisms and Acute Myeloid Leukemia Risk and Prognosis,” Oncotarget 6, no. 28 (2015): 25109–25120. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 14. Badar T., Marando L., Latorre E., et al., “Spectrum, Prevalence, and Clinical Correlates of PPM1D Mutations in Patients With Clonal Hematopoiesis and Clonal Cytopenias,” Blood Advances 10, no. 5 (2026): 1746–1755. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 15. Gutierrez‐Rodrigues F., Donaires F. S., Pinto A., et al., “Pathogenic TERT Promoter Variants in Telomere Diseases,” Genetics in Medicine 21, no. 7 (2019): 1594–1602. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 16. Ba I., Kannengiesser C., Mal H., et al., “Clinical Impact of TERT Somatic Mutation in Telomerase‐Related Gene Mutation Carriers After Lung Transplantation,” Journal of Heart and Lung Transplantation 41, no. 9 (2022): 1207–1209. [DOI] [PubMed] [Google Scholar]
- 17. Hafezi F., Jaxel L., Lemaire M., Turner J. D., and Perez‐Bercoff D., “TERT Promoter Mutations Increase Sense and Antisense Transcription From the TERT Promoter,” Biomedicine 9, no. 12 (2021): 1773. [DOI] [PMC free article] [PubMed] [Google Scholar]
Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Supplementary Materials
Table S1: Spectrum of adaptive CH in patients with TBDs and somatic promoter TERT mutations.
Table S2: Transplant information.
Figure S1: Remaining Sankey plots. Above are Sankey plots demonstrating the longitudinal hematologic trajectories for leukocytes (left) and macrocytosis (right) in TBD patients with somatic TERT promoter mutations. Initial time point is “at diagnosis,” which is the best estimated time of TBD diagnosis. “At follow‐up” is the time of last follow‐up for these patients. Median time in between these two points was 24 months. CTCAE, Common Terminology Criteria for Adverse Events.
Table S3: Sub analysis.
Data Availability Statement
The data that support the findings of this study are available from the corresponding author upon reasonable request.