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Table. 1.

Table. 1.

Clinical characteristics of patients with a hematologic diagnosis with t(3;21)

Characteristics Case 1 Case 2 Case 3 Case 4
Diagnosis* MDS-EB1 t-MDS t-MDS MDS-U
Age (yr)/sex 23/male 17/male 66/male 72/female
Underlying disease (age, yr) MDS (2) Osteosarcoma (16) Rectal cancer (59) Bladder cancer (67)
Chemotherapy or RT None Methotrexate, ifosfamide, etoposide, carboplatin, busulfan, melphalan Oxaliplatin, folinic acid, fluorouracil None
Survival 78 months (alive) 31 months 37 months (alive) 36 months
CBC (Hb, WBC, PLT) 60 g/L, 1,800 × 106/L, 60 × 109/L 119 g/L, 2,980 × 106/L, 73 × 109/L 117 g/L, 2,130 × 106/L, 47 × 109/L 74 g/L, 900 × 106/L, 48 × 109/L
Blast count in BM§ 9.0% < 5% < 5% < 5%
Dysplasia Dysgranulopoiesis Dyserythropoiesis, dysmegakaryopoiesis Dysmegakaryopoiesis N/A
Chromosome (G-banding)ll 46,XY,t(3;21)(q26.2;q22) 45,XY,t(3;21)(q26.2;q22),–7 46,XY,t(3;21)(q26.2;q22) 46,XX,t(3;21)(q26.2;q22)
MECOM FISH positivityll Positive (52.7%) Positive (46%) Positive (50%) N/A
Somatic variant genes (VAF, %) RUNX1 (16.1) RUNX1 (43.6) SF3B1 (23.9)
BCOR (62.1) DHX58 (13.0) TERF1 (17.3) GATA2 (27.9)
MXRA5 (48.9) RTEL1 (44.1) GNAS (22.6)
RAF1 (38.8) DDX54 (57.3)
TERF1 (12.3) CBL (57.7)
RELN (22.5) PASD1 (14.5)
STRIP2 (49.5) STAT5B (73.5)
CACNA1E (39.4) FAH (50.0)
TNFAIP3 (46.4)

*Initial hematologic diagnosis in the presence of a MECOM rearrangement; Age at initial hematologic diagnosis with MECOM rearrangement; Survival time from initial hematologic diagnosis to April 2021 for patients who are still alive; §Blast count observed on BM aspiration or BM section at initial diagnosis; llChromosome and MECOM FISH results at AML transformation.

Abbreviations: MDS, myelodysplastic syndrome; MDS-EB1, myelodysplastic syndrome with excess blasts 1; t-MDS, treatment-related myelodysplastic syndrome; MDS-U, myelodysplastic syndrome, unclassifiable; RT, radiotherapy; CBC, complete blood count; BM, bone marrow; N/A, not available due to poor quality; VAF, variant allele frequency; WBC, white blood cell; PLT, platelet.

Ann Lab Med 2022;42:590~596 https://doi.org/10.3343/alm.2022.42.5.590

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