Surreal illustration of chromosomal mutation in leukemia research.

Unlocking the Mystery of Rare Leukemia: A Case Study

Soraya Malik in Health & Wellness December 2025 • 4 min read.

"Decoding a unique case of Acute Lymphoblastic Leukemia with a rare t(11;22)(q23;q13) translocation and its implications for diagnosis and treatment."

Acute Lymphoblastic Leukemia (ALL) is a type of cancer that affects the blood and bone marrow. It's characterized by the overproduction of immature lymphocytes, a type of white blood cell. While common chromosomal abnormalities are well-documented in ALL, rare variations can present diagnostic and therapeutic challenges.

This article delves into a unique case of ALL involving a rare translocation between chromosomes 11 and 22, specifically t(11;22)(q23;q13). Translocations occur when parts of chromosomes break off and reattach to other chromosomes, potentially disrupting genes and leading to cancer development.

This case study, originally reported by Kremer and Mohamed, highlights the complexities of diagnosing and understanding ALL with rare genetic translocations. By examining the patient's clinical presentation, cytogenetic findings, and treatment approach, we can gain valuable insights into the diverse nature of leukemia and the importance of personalized medicine.

Decoding the t(11;22)(q23;q13) Translocation: What Does It Mean?

Surreal illustration of chromosomal mutation in leukemia research.

The translocation t(11;22)(q23;q13) signifies that a portion of the long arm (q) of chromosome 11 at band 23 has swapped places with a portion of the long arm (q) of chromosome 22 at band 13. In this specific case of ALL, it’s crucial to understand the genes located near these breakpoints and how their function might be altered by the translocation.

Here's a breakdown of the key aspects of this particular ALL case:

Patient Profile: A 14-month-old male presented with symptoms initially mistaken for a respiratory infection. Further investigation led to a diagnosis of high-risk B-precursor ALL.
Diagnosis: The diagnosis was based on a combination of cytological, immunological, and cytogenetic findings. Bone marrow analysis revealed a high percentage of lymphoblasts with L1 morphology. Flow cytometry identified a population of lymphoblasts expressing specific markers (HLA-DR, CD19, CD10, CD22, CD9, and CD40). The karyotype revealed the rare t(11;22)(q23;q13) translocation.
Genetic Findings: Fluorescence in situ hybridization (FISH) confirmed the rearrangement of the MLL gene on chromosome 11. Further FISH analysis showed the MLL gene's telomeric region translocated to 22q13, near the BCR gene.
Treatment and Outcome: The patient was treated with a Children's Oncology Group induction chemotherapy protocol. Post induction bone marrow study demonstrated a normal 46,XY karyotype.

While translocations involving the MLL gene are relatively common in infant ALL, the t(11;22)(q23;q13) variant is rare. Most MLL translocations involve other chromosomes, such as 4, 19, or 9. What makes this case particularly interesting is the involvement of chromosome 22, and the potential disruption of genes in that region.

The Future of Leukemia Research: Personalizing Treatment Approaches

This case underscores the importance of comprehensive cytogenetic analysis in diagnosing and classifying ALL. Identifying rare translocations like t(11;22)(q23;q13) can provide valuable insights into the specific genetic drivers of a patient's leukemia.

While the MLL gene is known to be involved in leukemogenesis, the specific partner gene involved in each translocation can influence the disease's characteristics and response to therapy. Further research is needed to fully understand the role of EP300 and other potential partner genes in MLL-related leukemias.

By continuing to investigate the molecular mechanisms underlying rare leukemia subtypes, researchers can develop more targeted and effective treatment strategies, ultimately improving outcomes for patients with ALL.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.4267/2042/47291, Alternate LINK

Title: A Case Of Acute Lymphoblastic Leukemia With Rare T(11;22)(Q23;Q13)

Subject: Cancer Research

Journal: Atlas of Genetics and Cytogenetics in Oncology and Haematology

Publisher: INIST-CNRS

Authors: Jd Kremer, An Mohamed

Published: 2012-05-01

Everything You Need To Know

What is Acute Lymphoblastic Leukemia (ALL), and what makes the presented case unique?

Acute Lymphoblastic Leukemia (ALL) is a cancer affecting blood and bone marrow, characterized by an overproduction of immature lymphocytes. The case highlights a rare translocation t(11;22)(q23;q13), where parts of chromosomes 11 and 22 swap, potentially disrupting genes. While common chromosomal abnormalities in ALL are well-documented, rare variations like this present diagnostic and therapeutic challenges. Identifying such rare translocations is crucial for understanding the specific genetic drivers of a patient's leukemia and tailoring personalized treatment approaches.

What does the t(11;22)(q23;q13) translocation signify in the context of Acute Lymphoblastic Leukemia (ALL), and how was it confirmed?

The translocation t(11;22)(q23;q13) means that a portion of the long arm (q) of chromosome 11 at band 23 has swapped places with a portion of the long arm (q) of chromosome 22 at band 13. Fluorescence in situ hybridization (FISH) confirmed the rearrangement of the MLL gene on chromosome 11 and the MLL gene's telomeric region translocated to 22q13, near the BCR gene. Understanding the genes located near these breakpoints and how their function might be altered is crucial in this specific case of Acute Lymphoblastic Leukemia (ALL).

How was the diagnosis of high-risk B-precursor Acute Lymphoblastic Leukemia (ALL) established in the 14-month-old patient?

The 14-month-old male patient was diagnosed with high-risk B-precursor Acute Lymphoblastic Leukemia (ALL) based on cytological, immunological, and cytogenetic findings. Bone marrow analysis revealed a high percentage of lymphoblasts with L1 morphology. Flow cytometry identified lymphoblasts expressing specific markers (HLA-DR, CD19, CD10, CD22, CD9, and CD40). The karyotype revealed the rare t(11;22)(q23;q13) translocation. These findings collectively pointed towards the specific subtype of leukemia affecting the patient.

What was the treatment approach for the patient, and what were the outcomes following the induction chemotherapy protocol?

The patient was treated with a Children's Oncology Group induction chemotherapy protocol. A post induction bone marrow study demonstrated a normal 46,XY karyotype. This indicates the initial treatment was effective in achieving remission. Continuous monitoring and further treatment strategies are essential to prevent relapse and ensure long-term survival. The absence of the t(11;22)(q23;q13) translocation post-treatment suggests successful eradication of the leukemic cells carrying this abnormality.

Why is identifying rare translocations, such as t(11;22)(q23;q13), important in Acute Lymphoblastic Leukemia (ALL), and what are the implications for future research and treatment?

This Acute Lymphoblastic Leukemia (ALL) case underscores the importance of comprehensive cytogenetic analysis, including techniques like Fluorescence in situ hybridization (FISH), in diagnosing and classifying ALL. While MLL gene translocations are relatively common in infant ALL, the specific t(11;22)(q23;q13) variant is rare. Identifying rare translocations like this provides valuable insights into the specific genetic drivers of a patient's leukemia, allowing for personalized treatment strategies. Further research into these rare genetic events could lead to the development of targeted therapies and improved outcomes for patients with similar presentations.