World Journal of Oncology, ISSN 1920-4531 print, 1920-454X online, Open Access
Article copyright, the authors; Journal compilation copyright, World J Oncol and Elmer Press Inc
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Original Article

Volume 17, Number 2, April 2026, pages 178-190


Characterization of Acute Myeloid Leukemia With t(16;21) Translocation: Cytogenetic, Molecular, and Immunophenotypic Findings

Figures

↓  Figure 1. Flowchart of article selection. AML: acute myeloid leukemia; AGCOH: Atlas of Genetics and Cytogenetics in Oncology and Hematology.
Figure 1.
↓  Figure 2. Number of cases reported in each article according to year of publication. Circles without numbers indicate that only one article was published in that year, whereas numbers within circles indicate the number of articles (more than one) published in that year. The size of each circle represents the number of cases reported per article.
Figure 2.
↓  Figure 3. Frequency of numerical chromosomal alterations among cases with AML with t(16;21) according to chromosomal breakpoints. AML: acute myeloid leukemia; t(16;21): translocation between chromosomes 16 and 21; Chr: chromosome.
Figure 3.
↓  Figure 4. Secondary structural chromosomal alterations in cases with AML with t(16;21) according to chromosomal breakpoints. In the external ring, the chromosomes are individually colored and arranged in clockwise order from chromosome 1 to chromosome Y. In the other rings, chromosomal abnormalities are presented; given that we do not have specific information on the affected chromosomal regions, we present the data as the entire chromosome affected. The sole case with AML with t(16;21)(q21;p21) presented add(17)(q22) and t(1;3)(q24;p24), whereas the case with AML with t(16;21)(p11;q13) showed no secondary abnormalities. The affected arms, regions and bands are shown here (Supplementary Material 3, wjon.elmerpub.com). add: chromosomal addition; ins: insertion; dup: duplication; del: deletion; der: derivative; inv: inversion; t: translocation; AML: acute myeloid leukemia; t(16;21): translocation between chromosomes 16 and 21.
Figure 4.
↓  Figure 5. Heatmap of the frequency of immunophenotypic marker positivity among cases with AML with t(16;21). Each cell color in the heatmap represents the proportion of cases with a positive result for a specific immunophenotypic marker, considering only those in whom that marker was assessed (numerator: positive cases; denominator: total cases evaluated). The case with t(16;21)(q21;p21) was positive for CD34, CD38 and HLA-DR, whereas no marker information was available for the case with t(16;21)(p11;q13). AML: acute myeloid leukemia; HLA-DR: human leukocyte antigen-DR; t(16;21): translocation between chromosomes 16 and 21.
Figure 5.
↓  Figure 6. Kaplan–Meier graph of survival at 2 and 5 years in cases with AML with t(16;21). Of the 103 cases, 78 had survival information available. (a, c) Overall survival at 2 and 5 years; this includes the case with t(16;21)(q21;p21), with a follow-up time of 14 months, and the case with t(16;21)(p11;q13), who died at 22 months. (b, d) Curves stratified by translocation subtype. AML: acute myeloid leukemia; t(16;21): translocation between chromosomes 16 and 21.
Figure 6.

Table

↓  Table 1. General Characteristics of AML Cases With t(16;21) According to Chromosomal Breakpoints
 
Characteristic Overalla (n = 103), n (%) t(16;21) breakpoints P value
(p11;q22) (n = 90), n (%) (q24;q22) (n = 11), n (%)
aTwo additional cases were identified: the first case was in an adult, 46,XX, with t(16;21)(p11:q13) FAB-M5 who received chemotherapy plus transplantation and experienced relapse; the second case was in an adult, 46,XX, with t(16;21)(q21;p21) FAB-M5 with secondary structural chromosomal alterations who received chemotherapy plus transplantation and did not experience relapse. bMedian (IQR). cFisher’s exact test. dMann–Whitney U test. FAB: French–American–British; M5: acute monoblastic or monocytic leukemia; IQR: interquartile range; NA: not applicable; t(16;21): translocation between chromosomes 16 and 21.
Sex (male) 56 (54.4) 50 (55.6) 6 (54.5) 1.000c
Age (years)b 23 (9–39) 24 (10.5–40.5) 6 (4–71) 0.250d
Age group 0.009c
  Pediatric (< 18 years) 44 (42.7) 37 (41.1) 7 (63.6)
  Adult (18–59 years) 49 (47.6) 46 (51.1) 1 (9.1)
  Older adult (≥ 60 years) 8 (7.8) 5 (5.6) 3 (27.3)
  No information 2 (1.9) 2 (2.2) 0 (0.0)
FAB classification 0.326c
  M0: AML with minimal differentiation 1 (1) 1 (1.1) 0 (0.0)
  M1: AML without maturation 22 (21.4) 20 (22.2) 2 (18.2)
  M2: AML with maturation 25 (24.3) 21 (23.3) 4 (36.4)
  M4: acute myelomonocytic leukemia 16 (15.5) 12 (13.3) 4 (36.4)
  M5: acute monoblastic/monocytic leukemia 22 (21.4) 20 (22.2) 0 (0.0)
  M6: acute erythroid leukemia 1 (1) 1 (1.1) 0 (0.0)
  M7: acute megakaryoblastic leukemia 8 (7.8) 8 (8.9) 0 (0.0)
  NOS: AML not otherwise specified 1 (1) 1 (1.1) 0 (0.0)
  No information 7 (6.8) 6 (6.7) 1 (9.1)
Presence of numerical alterations (yes) 39 (37.9) 32 (35.6) 7 (63.6) 0.101c
Number of chromosomes 0.379c
  < 46 6 (5.8) 6 (6.7) 0 (0.0)
  46 78 (75.7) 69 (76.7) 7 (63.6)
  > 46 17 (16.5) 13 (14.4) 4 (36.4)
  No information 2 (1.9) 2 (2.2) 0 (0.0)
Presence of structural alterations (yes) 47 (45.6) 40 (44.4) 6 (54.5) 0.542c
Primary molecular alterations < 0.001c
  RUNX1::RUNX1T3 8 (7.8) NA 8 (72.7)
  FUS::ERG 56 (54.4) 56 (62.2) NA
  No information 39 (37.9) 34 (37.8) 3 (27.3)
Treatment 0.002c
  Chemotherapy 53 (51.5) 47 (52.2) 6 (54.5)
  Chemotherapy + transplant 30 (29.1) 28 (31.1) 0 (0.0)
  Other 2 (1.9) 0 (0.0) 2 (18.2)
  No information 18 (17.5) 15 (16.7) 3 (27.3)
Relapse 0.008c
  Present 51 (49.5) 49 (54.4) 1 (9.1)
  Absent 16 (15.5) 12 (13.3) 3 (27.3)
  No information 36 (35.0) 29 (32.2) 7 (63.6)