🩸 TOACS FCPS Station · Gum Involvement in Acute Myelogenous Leukemia

Nelson · 22nd Ed · “Gingival hypertrophy, bleeding, and infiltration by leukemic blasts – characteristic of acute monocytic leukemia (M5) and AML with monocytic differentiation; often associated with 11q23 (KMT2A) rearrangements”
⏱️ 7 minutes · Examiner-led · Observed station
🌐 paeds.online — Pakistan's Pediatric Platform

📷 Clinical Photograph – Gingival Infiltration in AML

Clinical photograph showing swollen, erythematous, hypertrophied gums with bleeding – characteristic gingival infiltration by leukemic blasts in acute myelogenous leukemia
Figure 1 · Gingival Infiltration · Acute Myelogenous Leukemia (AML)

🔍 Key clinical features:

  • Swollen, hypertrophied gums – boggy, erythematous
  • Bleeding gums – spontaneous or with mild trauma
  • Leukemic infiltration – blasts infiltrating gingival tissue
  • Common in monocytic AML – FAB M4/M5, 11q23 rearrangements
  • Associated with pancytopenia – anemia, thrombocytopenia, neutropenia

📋 Clinical scenario (examiner prompt)

A 4‑year‑old child is brought to the clinic with a 2‑week history of bleeding gums, fever, and fatigue. The mother reports that the child has been pale and bruising easily. On examination, the gums are swollen, erythematous, and hypertrophied, with spontaneous bleeding (see image). There is cervical lymphadenopathy and hepatosplenomegaly. The child appears ill and has a temperature of 39°C.

Swollen, bleeding gums Fever, pallor, easy bruising Lymphadenopathy, hepatosplenomegaly Pancytopenia

🧑‍⚕️ Examiner tasks · TOACS

1. Identify the diagnosis from the clinical image and context.

2. Describe the clinical features (gingival hypertrophy, bleeding, pancytopenia, fever, hepatosplenomegaly).

3. Explain the underlying condition (acute myelogenous leukemia, especially monocytic subtype).

4. Discuss diagnosis and management (CBC, bone marrow, cytogenetics, chemotherapy).

⚠️ Key concept: Gingival hypertrophy and bleeding in a child with pancytopenia is a classic feature of acute myelogenous leukemia (AML), particularly acute monocytic leukemia (FAB M5) and AML with 11q23 (KMT2A) rearrangements. The leukemic infiltration of gums occurs in 10-20% of pediatric AML cases. Chloromas (granulocytic sarcomas) may also occur in other sites. Diagnosis requires bone marrow aspiration/biopsy with flow cytometry and cytogenetics. Treatment is intensive chemotherapy (cytarabine + anthracycline) and, for high-risk features, allogeneic stem cell transplant.

🎯 Expected answers (for examiners)

  • Diagnosis: Acute myelogenous leukemia (AML), likely monocytic subtype (M4/M5)
  • Clinical features: Gingival hypertrophy and bleeding (leukemic infiltration), fever, pallor, easy bruising (thrombocytopenia), hepatosplenomegaly, lymphadenopathy, pancytopenia
  • Pathophysiology: Malignant proliferation of myeloid blasts with monocytic differentiation; gums infiltrated due to monocytic affinity for tissues; associated with 11q23 (KMT2A) rearrangements and t(9;11)
  • Diagnosis: CBC (pancytopenia, blasts), bone marrow aspiration/biopsy (≥20% blasts, myeloperoxidase positive, monocytic markers CD13, CD33, CD14, CD64), cytogenetics, FLT3-ITD, NPM1
  • Treatment: Induction chemotherapy (cytarabine + anthracycline); high-risk features (11q23, FLT3-ITD, MRD+) → allogeneic stem cell transplant in first remission
  • Supportive care: Transfusions, antibiotics for febrile neutropenia, tumor lysis prophylaxis, dental hygiene
📌 Gingival infiltration in AML – key points:
Incidence: 10-20% of pediatric AML
Associated subtypes: Monocytic AML (FAB M4/M5), 11q23 (KMT2A)
Clinical: Swollen, erythematous, hypertrophied gums with bleeding
Other extramedullary sites: Skin (leukemia cutis), orbit (chloroma), CNS
Treatment: Systemic chemotherapy (local treatment not needed if systemic response)
Prognosis: Depends on cytogenetics; 11q23 has higher relapse risk

⚡ Quick FCPS‑style MCQ

A 4-year-old child presents with swollen, bleeding gums, fever, pallor, and pancytopenia. The most likely diagnosis is:

A. Acute lymphoblastic leukemia (ALL) B. Acute myelogenous leukemia (AML) with monocytic differentiation C. Gingivitis D. Hemophilia

📌 Topic summary · Gum Involvement in AML

Condition
Acute myelogenous leukemia (AML)
Subtype
Monocytic (M4/M5), 11q23
Gum features
Swollen, hypertrophied, bleeding
Other extramedullary
Chloroma, leukemia cutis, CNS
Diagnosis
Bone marrow, flow cytometry, cytogenetics
Treatment
Chemotherapy ± stem cell transplant
FeatureAML with Monocytic Differentiation
DefinitionAML with ≥20% blasts, monocytic markers (CD14, CD64, CD11b), myeloperoxidase positive
Gingival infiltrationSwollen, erythematous, hypertrophied gums; bleeding; leukemic blasts on biopsy
Cytogenetics11q23 (KMT2A) rearrangements (e.g., t(9;11)), t(8;16), t(6;11)
Other extramedullary sitesSkin (leukemia cutis), orbit, CNS, lymph nodes, chloromas
DiagnosisCBC (pancytopenia, blasts), bone marrow aspirate (≥20% blasts), flow cytometry, cytogenetics, FISH, molecular studies
TreatmentInduction: cytarabine + anthracycline; high-risk (11q23, FLT3-ITD, MRD+) → allogeneic stem cell transplant
PrognosisVariable; 11q23 higher relapse risk; t(8;21) favorable, inv(16) favorable
Source: Nelson Textbook of Pediatrics 22nd Ed : Acute Myelogenous Leukemia · TOACS FCPS station.