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Acute lymphoblastic leukaemia/lymphoma

  • Lesion

The commonest childhood cancer: immature lymphocytes fill the marrow and push out normal blood cells. Most children are cured.

Updated

What it is

Acute lymphoblastic leukaemia/lymphoma (ALL/LBL) is a neoplasm of precursor B or T cells (lymphoblasts). B-ALL is mostly a disease of young children and presents as leukaemia; T-ALL affects adolescent boys more often and frequently presents as a thymic mass. The blasts replace the marrow, causing anaemia, infections and bleeding, and infiltrate bone, nodes, spleen, liver, CNS and testes. Genetic subgroups strongly predict outcome.

Structure

  • Marrow: hypercellular, replaced by lymphoblasts with scant blue cytoplasm, finely stippled chromatin and small nucleoli.
  • Lymphoblasts are myeloperoxidase-negative and may contain PAS-positive cytoplasmic material.
  • Lymphoblastic lymphoma of the thymus: diffuse sheets of blasts with many mitoses and a starry-sky pattern.

Step by step

  1. A B- or T-cell precursor acquires a lesion that blocks differentiation, usually in a lineage transcription factor (PAX5, ETV6, RUNX1, NOTCH1 in T-ALL).
  2. Cooperating mutations, often in tyrosine kinase signalling, drive proliferation.
  3. Blasts accumulate in the marrow and crowd out normal haematopoiesis.
  4. Anaemia, thrombocytopenia and neutropenia appear within weeks.
  5. Blasts spread to nodes, spleen, liver, meninges, testes and, in T-ALL, the thymus.

Markers

  • TdT
  • CD19
  • CD10
  • PAX5
  • CD3
  • CD7
  • CD34

Clinical notes

  • Abrupt onset with fatigue, fever, bleeding, bone pain and tenderness, lymphadenopathy and hepatosplenomegaly.
  • CNS involvement causes headache, vomiting and nerve palsies; sanctuary sites (CNS, testes) explain relapses.
  • With modern therapy most children achieve remission and a large majority are cured.

Test yourself

Think of the answer, then tap the question to see it.

Which marker is positive in more than 95% of ALL?

TdT (terminal deoxynucleotidyl transferase).

Which genetic changes carry a good prognosis in childhood B-ALL?

Hyperdiploidy and the t(12;21) ETV6::RUNX1 fusion.

How does T-ALL often present?

In an adolescent male with a mediastinal (thymic) mass, sometimes compressing the airway or superior vena cava.

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Educational content on the mechanisms of disease; not a diagnostic or treatment guide and no substitute for a health professional's advice. No doses are given.

Sources: Childhood Acute Lymphoblastic Leukemia (PDQ®)–Patient Version (National Cancer Institute (NCI), 2026).

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Representative model, for educational purposes only.