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Volume 26
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10.3390/ijms26031162
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction

by
Carmen Baldazzi
1,*,
Lorenza Bandini
2,
Valentina Robustelli
1,
Agnese Patuelli
2,
Claudia Venturi
1,
Alessandra Grassi
2,
Giulia Marzocchi
2,
Angela Ielpo
1,
Vincenza Solli
2,
Maria Teresa Bochicchio
3,
Stefania Paolini
1,
Chiara Sartor
1,2,
Federico Zingarelli
1,
Antonio Curti
1,
Emanuela Ottaviani
1 and
Nicoletta Testoni
1,2
1
IRCCS Azienda Ospedaliero-Universitaria di Bologna, Istituto di Ematologia “Seràgnoli”, 40138 Bologna, Italy
2
Dipartimento di Scienze Mediche e Chirurgiche, Università di Bologna, 40138 Bologna, Italy
3
Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) “Dino Amadori”, 47014 Meldola, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2025, 26(3), 1162; https://doi.org/10.3390/ijms26031162
Submission received: 18 December 2024 / Revised: 22 January 2025 / Accepted: 25 January 2025 / Published: 29 January 2025
(This article belongs to the Special Issue Molecular Mechanism of Acute Myeloid Leukemia)
Versions Notes

Abstract

Monosomy 7 and deletion 7q are common chromosomal abnormalities in myeloid malignancies, and they are associated with a poor prognosis. The mechanism underlying their acquisition remains elusive. We identified a cohort of 24 patients exhibiting clones with different chromosome 7 abnormalities, such as deletion 7q, unstable derivatives (ring chromosomes or ‘naked’ centromeres), and monosomy 7. We designated this group as having cytogenetic clonal evolution of chromosome 7 abnormalities (CCE7). In some cases, CCE7 correlated with disease progression, suggesting that deletions or other derivatives involving the q-arm of chromosome 7 may arise early in the disease course. These abnormalities may be transient but can potentially evolve into monosomy 7. Within the CCE7 group, telomere loss or shortening may contribute to chromosomal instability and the emergence of unstable derivatives, as the chromosome 7 derivatives displayed loss or rearrangement of subtelomeric regions. Moreover, we identified variants in genes implicated in telomere biology disorders and observed specific genetic mutation profiles associated with different chromosome 7 abnormalities. These findings shed light on a potential mechanism leading to monosomy 7 through the evolution of chromosome 7q abnormalities. Identifying patients at risk of developing monosomy 7, based on the presence of unstable derivatives with telomere loss or a specific mutation profile, could potentially enhance patient management and guide the development of novel therapeutic strategies.
Keywords: myeloid neoplasm; clonal evolution; monosomy 7; deletion 7q; chromosomal instability; telomeres myeloid neoplasm; clonal evolution; monosomy 7; deletion 7q; chromosomal instability; telomeres

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MDPI and ACS Style

Baldazzi, C.; Bandini, L.; Robustelli, V.; Patuelli, A.; Venturi, C.; Grassi, A.; Marzocchi, G.; Ielpo, A.; Solli, V.; Bochicchio, M.T.; et al. Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction. Int. J. Mol. Sci. 2025, 26, 1162. https://doi.org/10.3390/ijms26031162

AMA Style

Baldazzi C, Bandini L, Robustelli V, Patuelli A, Venturi C, Grassi A, Marzocchi G, Ielpo A, Solli V, Bochicchio MT, et al. Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction. International Journal of Molecular Sciences. 2025; 26(3):1162. https://doi.org/10.3390/ijms26031162

Chicago/Turabian Style

Baldazzi, Carmen, Lorenza Bandini, Valentina Robustelli, Agnese Patuelli, Claudia Venturi, Alessandra Grassi, Giulia Marzocchi, Angela Ielpo, Vincenza Solli, Maria Teresa Bochicchio, and et al. 2025. "Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction" International Journal of Molecular Sciences 26, no. 3: 1162. https://doi.org/10.3390/ijms26031162

APA Style

Baldazzi, C., Bandini, L., Robustelli, V., Patuelli, A., Venturi, C., Grassi, A., Marzocchi, G., Ielpo, A., Solli, V., Bochicchio, M. T., Paolini, S., Sartor, C., Zingarelli, F., Curti, A., Ottaviani, E., & Testoni, N. (2025). Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction. International Journal of Molecular Sciences, 26(3), 1162. https://doi.org/10.3390/ijms26031162

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