Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart Review
Abstract
:1. Introduction
2. Materials and Methods
2.1. Patient Selection
2.2. NGS Assay
2.3. Bone Marrow Aspirate Morphologic and RS Assessments
2.4. Statistical Analysis
3. Results
3.1. Patient Cohort
3.2. Ring Sideroblasts
3.3. Patients with SF3B1 Mutation and No RSs
3.4. Patient Outcomes
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Total Patients | Male | Female | |
---|---|---|---|
Patient Characteristics | |||
Total Patients; number (%) | 39 (100) | 20 (51) | 19 (49) |
Age; median (range) years | 77 (57–92) | 78 (57–90) | 76 (64–92) |
Laboratory Findings * | |||
Haemoglobin; median (range) g/L | 96 (65–151) | 95 (65–151) | 96 (71–112) |
MCV; median (range) fL | 105 (89–124) | 108 (89–124) | 104 (93–117) |
Leukocytes; median (range) × 109/L | 6 (2–12) | 6 (2–12) | 6 (4–12) |
Platelets; median (range) × 109/L | 220 (24–651) | 203 (24–651) | 253 (54–371) |
Ferritin; median (range) mcg/L | 554 (59–4519) | 562 (59–4519) | 544 (172–2894) |
Serum EPO; median (range) IU/L | 43 (9–1070) | 34 (9–1070) | 47 (18–615) |
Management and Outcomes | |||
Transfusions **; number (%) | 18 (46) | 8 (40) | 10 (53) |
Transfusion-dependent ***; number (%) | 15 (38) | 7 (35) | 8 (42) |
ESA; number (%) | 17 (44) | 8 (40) | 9 (47) |
EMA; number (%) | 5 (13) | 1 (5) | 4 (21) |
Other treatments; number (%) | 2 (5) | 2 (10) | 0 |
Duration of follow-up †; median (range) months | 35 (3–180) | 34 (3–137) | 37 (4–180) |
Total Patients N = 39 | Male N = 20 | Female N = 19 | |
---|---|---|---|
IPSS Risk Classification | |||
Low; n (%) | 32 (82%) | 17 (85%) | 15 (79%) |
Intermediate-1; n (%) | 7 (18%) | 3 (15%) | 4 (21%) |
R-IPSS Risk Classification | |||
Very Low; n (%) | 10 (26%) | 6 (30%) | 4 (21%) |
Low; n (%) | 29 (74%) | 14 (70%) | 15 (79%) |
M-IPSS Classification | |||
Very Low, n (%); Score median (range) | 15 (39%); −1.64 (−2.69 to −1.52) | 7 (35%); −1.66 (−2.69 to −0.85) | 8 (42%); −1.63 (−1.93 to −1.57) |
Low, n (%); Score median (range) | 24 (62%); −1.13 (−1.46 to −0.59) | 13 (65%); −1.17 (−1.46 to −0.59) | 11 (58%); −1.09 (−1.46 to −0.81) |
Patient Serial ID | Age (yrs) | Sex | MDS Subtype (WHO 2016) | RS Count (%) | SF3B1 Mutation VAF (%) | Other Gene Mutations | Cytogenetics |
---|---|---|---|---|---|---|---|
1 | 76 | F | RS-SLD | 15 | SF3B1:c.2098A>G,p.(Lys700Glu) (23.4%) | None | Normal |
2 | 78 | M | RS-SLD | 15+ | SF3B1:c.1997A>C,p.(Lys666Thr) (38%) | None | Normal |
3 | 76 | F | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (42.2%) | TET2 | Del 13q |
4 | 64 | F | SLD | 0 | SF3B1:c.2098A>G,p.(Lys700Glu) (38.9%) | TET2, TP53 | Normal |
5 | 64 | F | SLD | 9 | SF3B1:c.2098A>G,p.(Lys700Glu) (40.8%) | None | Normal |
6 | 82 | F | MLD | 10 | SF3B1:c.1873C>T,p.(Arg625Cys) (33.8%) | None | Normal |
7 | 83 | M | RS-MLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (39.8%) | DNMT3A | Normal |
8 | 65 | F | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (45%) | IDH2, DNMT3A | Normal |
9 | 84 | F | RS-MLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (40%) | TET2, DNMT3A | Normal |
10 | 64 | M | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (25.6%) | None | Normal |
11 | 88 | F | SLD | 5–14% | SF3B1:c.2098A>G,p.(Lys700Glu) (43.2%) | TET2, DNMT3A, SH2B3 | Del 20q |
12 | 73 | M | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (35.9%) | TET2 | Inv 13q |
13 | 74 | M | RS-MLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (36.1%) | KIT | Normal |
14 | 80 | F | RS-SLD | 15+ | SF3B1:c.1873C>T,p.(Arg625Cys) (26.8%) | None | Normal |
15 | 85 | M | RS-SLD | 15+ | SF3B1:c.1997A>G,p.(Lys666Arg) (36.6%) | TET2 | Normal |
16 | 65 | F | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (28.5%) | None | Normal |
17 | 63 | M | RS-SLD | 15+ | SF3B1:c.1986C>G,p.(His662Gln) (29.5%) | None | Y minus |
18 | 90 | M | MLD | 8 | SF3B1:c.2098A>G,p.(Lys700Glu) (39.2%) | None | Y minus |
19 | 78 | M | RS-SLD | 15+ | SF3B1:c.1997A>G,p.(Lys666Arg) (33.3%) | None | Normal |
20 | 67 | M | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (44.6%) | None | Normal |
21 | 57 | M | SLD | 12 | SF3B1:c.1998G>T,p.(Lys666Asn) (33.5%) | None | Normal |
22 | 80 | F | RS-MLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (37.9%) | TET2 | Normal |
23 | 81 | M | MLD | 0 | SF3B1:c.1986C>G,p.(His662Gln) (7.4%) | TET2, KIT | Normal |
24 | 70 | F | RS-SLD | 15+ | SF3B1:c.1984C>T,p.(His662Tyr) (45.6%) | TET2 | Normal |
25 | 92 | F | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (42.7%) | TET2 | Normal |
26 | 79 | M | SLD | 0 | SF3B1:c.1998G>C,p.(Lys666Asn) (21.8%) SF3B1:c.2098A>G, p.(Lys700Glu) (20.1%) | None | Normal |
27 | 86 | M | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (28.7%) | DNMT3A | Normal |
28 | 88 | M | SLD | 1 | SF3B1:c.1997A>C,p.(Lys666Thr) (39.6%) | None | Normal |
29 | 70 | F | RS-SLD | 15+ | SF3B1:c.1986C>A,p.(His662Gln) (37.4%) | None | Normal |
30 | 81 | M | RS-SLD | 65 | SF3B1:c.2098A>G,p.(Lys700Glu) (46%) | DNMT3A, TET2 | Normal |
31 | 76 | F | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (38.5%) | None | Normal |
32 | 78 | F | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (40.8%) | None | Normal |
33 | 87 | F | SLD | 5–14% | SF3B1:c.2098A>G,p.(Lys700Glu) (32.2%) | None | Normal |
34 | 75 | M | RS-SLD | 15+ | SF3B1:c.1997A>G,p.(Lys666Arg) (43.6%) | ZRSR2, TET2 | Normal |
35 | 73 | M | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (31.7%) | DNMT3A | Normal |
36 | 73 | F | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (37.1%) | None | Del 20q |
37 | 81 | M | RS-SLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (25.1%) | DNMT3A | Normal |
38 | 77 | F | RS-MLD | 15+ | SF3B1:c.1986C>A,p.(His662Gln) (23.4%) | TET2 | Normal |
39 | 75 | M | RS-MLD | 15+ | SF3B1:c.2098A>G,p.(Lys700Glu) (39.7%) | TET2 | Normal |
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Mortuza, S.; Chin-Yee, B.; James, T.E.; Chin-Yee, I.H.; Hedley, B.D.; Ho, J.M.; Saini, L.; Lazo-Langner, A.; Schenkel, L.; Bhai, P.; et al. Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart Review. Curr. Oncol. 2024, 31, 1762-1773. https://doi.org/10.3390/curroncol31040134
Mortuza S, Chin-Yee B, James TE, Chin-Yee IH, Hedley BD, Ho JM, Saini L, Lazo-Langner A, Schenkel L, Bhai P, et al. Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart Review. Current Oncology. 2024; 31(4):1762-1773. https://doi.org/10.3390/curroncol31040134
Chicago/Turabian StyleMortuza, Shamim, Benjamin Chin-Yee, Tyler E. James, Ian H. Chin-Yee, Benjamin D. Hedley, Jenny M. Ho, Lalit Saini, Alejandro Lazo-Langner, Laila Schenkel, Pratibha Bhai, and et al. 2024. "Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart Review" Current Oncology 31, no. 4: 1762-1773. https://doi.org/10.3390/curroncol31040134