Case Report 


Isolated trisomy 4 associated with a rare heterozygous likely pathogenic RUNX1 variant in a young adult with acute myeloid leukemia and a poor outcome

Roberto Rodrigues Capela De Matos, Gerson Moura Ferreira, Jamison Menezes De Souza, Cláudia Diniz Da Silva De Atayde, Telma Padilha, Moisés Martins Da Rocha, Eliana Abdelhay, Bárbara Da Costa Reis Monte-mór, Maria Luiza Macedo Silva.


Abstract
Background: Isolated trisomy 4, a numerical chromosome abnormality, is observed in less than 1% of patients with acute myeloid leukemia (AML), and its prognostic impact is unclear. Herein, we report a novel RUNX1 variant in a young adult with minimally differentiated AML harboring the rare trisomy 4 as sole acquired cytogenetic abnormality. Methods: Banding cytogenetics and fluorescence in situ hybridization (FISH) experiments were performed on bone marrow cells at diagnosis. Next-generation sequencing (NGS) was also performed on this diagnostic sample. Results: The karyotype was 47,XY,+4. FISH confirmed trisomy 4, and reverse transcriptase polymerase chain reaction (RT-PCR) was positive for fusion gene FLT3-ITD. NGS revealed a RUNX1 variant classified as likely pathogenic. These abnormalities were associated with an aggressive clinical presentation and a poor outcome. Conclusion: Due to the rarity and prognostic heterogeneity of AML patients with trisomy 4, it is important to monitor associated genomic variants in order to better understand disease biology, as well as to assist in risk stratification and therapeutic choice.

Key words: Isolated trisomy 4; Acute myeloid leukemia (AML); Young adults; RUNX1 mutation; Next generation sequencing (NGS).


 
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How to Cite this Article
Pubmed Style

Matos RRCD, Ferreira GM, Souza JMD, , Padilha T, Rocha MMD, Abdelhay E, Monte-mór BDCR, Silva MLM. Isolated trisomy 4 associated with a rare heterozygous likely pathogenic RUNX1 variant in a young adult with acute myeloid leukemia and a poor outcome. ChrSomics. 2026; 1(1): 38-46.


Web Style

Matos RRCD, Ferreira GM, Souza JMD, , Padilha T, Rocha MMD, Abdelhay E, Monte-mór BDCR, Silva MLM. Isolated trisomy 4 associated with a rare heterozygous likely pathogenic RUNX1 variant in a young adult with acute myeloid leukemia and a poor outcome. https://chromosomics.org/?mno=332490 [Access: October 01, 2026].


AMA (American Medical Association) Style

Matos RRCD, Ferreira GM, Souza JMD, , Padilha T, Rocha MMD, Abdelhay E, Monte-mór BDCR, Silva MLM. Isolated trisomy 4 associated with a rare heterozygous likely pathogenic RUNX1 variant in a young adult with acute myeloid leukemia and a poor outcome. ChrSomics. 2026; 1(1): 38-46.



Vancouver/ICMJE Style

Matos RRCD, Ferreira GM, Souza JMD, , Padilha T, Rocha MMD, Abdelhay E, Monte-mór BDCR, Silva MLM. Isolated trisomy 4 associated with a rare heterozygous likely pathogenic RUNX1 variant in a young adult with acute myeloid leukemia and a poor outcome. ChrSomics. (2026), [cited October 01, 2026]; 1(1): 38-46.



Harvard Style

Matos, R. R. C. D., Ferreira, . G. M., Souza, . J. M. D., , Padilha, . T., Rocha, . M. M. D., Abdelhay, . E., Monte-mór, . B. D. C. R. & Silva, . M. L. M. (2026) Isolated trisomy 4 associated with a rare heterozygous likely pathogenic RUNX1 variant in a young adult with acute myeloid leukemia and a poor outcome. ChrSomics, 1 (1), 38-46.



Turabian Style

Matos, Roberto Rodrigues Capela De, Gerson Moura Ferreira, Jamison Menezes De Souza, Cláudia Diniz Da Silva De Atayde, Telma Padilha, Moisés Martins Da Rocha, Eliana Abdelhay, Bárbara Da Costa Reis Monte-mór, and Maria Luiza Macedo Silva. 2026. Isolated trisomy 4 associated with a rare heterozygous likely pathogenic RUNX1 variant in a young adult with acute myeloid leukemia and a poor outcome. ChromoSomics, 1 (1), 38-46.



Chicago Style

Matos, Roberto Rodrigues Capela De, Gerson Moura Ferreira, Jamison Menezes De Souza, Cláudia Diniz Da Silva De Atayde, Telma Padilha, Moisés Martins Da Rocha, Eliana Abdelhay, Bárbara Da Costa Reis Monte-mór, and Maria Luiza Macedo Silva. "Isolated trisomy 4 associated with a rare heterozygous likely pathogenic RUNX1 variant in a young adult with acute myeloid leukemia and a poor outcome." ChromoSomics 1 (2026), 38-46.



MLA (The Modern Language Association) Style

Matos, Roberto Rodrigues Capela De, Gerson Moura Ferreira, Jamison Menezes De Souza, Cláudia Diniz Da Silva De Atayde, Telma Padilha, Moisés Martins Da Rocha, Eliana Abdelhay, Bárbara Da Costa Reis Monte-mór, and Maria Luiza Macedo Silva. "Isolated trisomy 4 associated with a rare heterozygous likely pathogenic RUNX1 variant in a young adult with acute myeloid leukemia and a poor outcome." ChromoSomics 1.1 (2026), 38-46. Print.



APA (American Psychological Association) Style

Matos, R. R. C. D., Ferreira, . G. M., Souza, . J. M. D., , Padilha, . T., Rocha, . M. M. D., Abdelhay, . E., Monte-mór, . B. D. C. R. & Silva, . M. L. M. (2026) Isolated trisomy 4 associated with a rare heterozygous likely pathogenic RUNX1 variant in a young adult with acute myeloid leukemia and a poor outcome. ChromoSomics, 1 (1), 38-46.