KMT2A::AFF1 Fusion in Adolescent ALL: Atypical Age-Related Genetic Profile and Clinical Implications

  • Author
  • Yasmin de Souza dos Santos
  • Co-authors
  • Kelry Barbosa Rodrigues , Marcelo Braga de Oliveira , Julia Ferreira Costa , Ágatha Tereza Miranda Tavares , Lucas Brabo Rotella , Márcio Santana de Aquino , Alayde Vieira Wanderley , Laudreissa da Costa Pantoja , André Salim Khayat
  • Abstract
  • Introduction: Leukemia is among the most common types of hematologic cancer worldwide, with approximately 474,000 new cases diagnosed each year. Within this context, acute lymphoblastic leukemia (ALL) stands out as the most common childhood cancer, accounting for 25% to 30% of all pediatric tumors and about 75% of leukemias diagnosed in children. The highest incidence occurs between the ages of 2 and 5, which is considered the peak age range for the disease. ALL is often associated with specific genetic alterations, with gene fusions being among the most relevant in terms of diagnosis and prognosis. Among these alterations, the KMT2A::AFF1 t(4;11) fusion is notable for its association with poorer responses to conventional chemotherapy and, consequently, a worse prognosis compared to other genetic subtypes of the disease. It is commonly observed in neonatal patients under one year of age, typically diagnosed within the first few months of life, suggesting that the mutation may arise in utero. Reports of this fusion in adolescents are quite rare, accounting for approximately 1% to 2% of ALL cases. Still, when they do occur, they can offer new insights into the disease, revealing unique biological features of this leukemia subtype. Objectives: To describe a case of acute lymphoblastic leukemia in a 15-year-old adolescent with KMT2A::AFF1 fusion, a genetic alteration typically observed in neonates, and to discuss its clinical and prognostic implications. Case Description:  Patient, sex male, mixed race, 15 years old, presented with fever associated with marked leukocytosis. The patient was diagnosed with B-cell acute lymphoblastic leukemia (B-ALL) through immunophenotyping analysis. The biochemical data revealed glucose at 120 mg/dL, creatinine at 0.69 mg/dL, urea at 28 mg/dL and the lactate dehydrogenase at 1189 mg/dL, triglyceride levels of 124 mg/dL, bilirubin levels of 0,43 mg/dL, and alanine aminotransferase (ALT/TGP) levels of 19 U/L.". The patient presented with a leukocyte count of 531,300/µL, with 64% blasts, a platelet count of 39,000/µL, and a hemoglobin level of 7,8 g/dL. Molecular biology analysis was performed using the Nested PCR technique, which detected the KMT2A::AFF1 fusion transcript through agarose gel electrophoresis. Additionally, Sanger sequencing was carried out, confirming the results obtained by PCR. According to the criteria established by the National Cancer Institute (NCI), patients presenting with a leukocyte count greater than 50,000/µL and age over 10 years are classified as having an unfavorable prognosis for the disease. Conclusion: The identification of the KMT2A::AFF1 fusion in an adolescent patient highlights that genetic alterations traditionally associated with neonates can also occur outside the usual age range, requiring special attention during diagnostic evaluation. Although it is typically described as a neonatal abnormality, its occurrence in adolescents, although rare, underscores the biological heterogeneity of the disease and the need for specific therapeutic approaches. Early detection of these alterations may contribute to guiding more effective treatment strategies and to a better understanding of the mechanisms involved in leukemogenesis across different ages.

  • Keywords
  • Acute Lymphoblastic Leukemia (ALL); KMT2A::AFF1 Fusion; Prognosis.
  • Modality
  • Pôster
  • Subject Area
  • Case Report or Epidemiology
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It is with great enthusiasm that we present the Annals of the Oncology International Symposium 2025, an event that continues to solidify its significance in the oncology landscape of northern Brazil. Held in Belém, Pará, Oncology 2025 centered around the theme "The cancer control challenge: better knowing it to best facing it," dedicating itself to exploring the latest frontiers in cancer treatment and prevention.

This year, the symposium provided a deep dive into the essential role of knowledge in the fight against cancer, presenting new perspectives and scientific advancements across various areas of oncology. Renowned global experts gathered to share their most recent research and innovative approaches, offering participants a comprehensive view of the challenges faced by healthcare professionals and patients worldwide.

Presentations and discussions during the event focused on critical topics such as the use of new technologies, advancements in personalized therapies, and more effective prevention strategies. Additionally, particular attention was given to the unique challenges faced by the Amazon region, with efforts aimed at developing region-specific solutions to meet local needs.

Beyond being a high-caliber academic event, Oncology 2025 stood out as a moment for integration and professional networking, with the warm hospitality of the city of Belém offering participants a unique experience. This event became a platform for exchanging ideas, where science, culture, and humanity came together in pursuit of a common goal: to improve cancer control both in Brazil and globally.

This collection of abstracts and articles presented during the event reflects the ongoing dedication to research and the development of innovative solutions, highlighting the importance of collaboration and shared knowledge in the fight against cancer.

General Submission Guidelines:

The presenting author, who does not have to be the first author, must be registered for Oncology 2025.
Each abstract may have up to 10 authors, including the main author and co-authors.
Only original, unpublished work will be accepted.
Submissions must be related to oncology. However, project descriptions, work proposals, experience reports, and literature reviews will not be considered.
Clinical case reports are allowed, provided the abstract addresses scientific questions, details clinical observations, and includes primary scientific data.
The abstract must be written in English, but presentations may be given in Portuguese.
Abstracts must be between 300 and 500 words.

  • Molecular Studies
  • Experimental Research or Clinical Research
  • Case Report or Epidemiology
  • Others

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See Annals of Oncology 2023 at:

https://www.even3.com.br/anais/oncology-2023-international-symposium/