Human herpesvirus 6 infection mimicking juvenile myelomonocytic leukemia in an infant

Adonis Lorenzana1, Hernando Lyons, Hadi Sawaf

  • 1Department of Pediatrics, St. John Hospital, Detroit, Michigan 48236, USA. adonis.lorenzana@stjohn.org

Insights

Perinatal human herpesvirus 6 (HHV-6) infection can mimic juvenile myelomonocytic leukemia (JMML) in vitro cell culture findings. This case highlights the importance of considering viral infections in infants with suspected JMML.

Area of Science:

  • Hematology
  • Virology
  • Pediatric Oncology

Background:

  • Juvenile myelomonocytic leukemia (JMML) diagnosis relies on in vitro progenitor cell culture showing spontaneous proliferation and granulocyte-macrophage colony-stimulating factor (GM-CSF) hypersensitivity.
  • This GM-CSF hypersensitivity assay is a key component of international JMML diagnostic criteria.

Observation:

  • A 2-week-old infant with perinatal human herpesvirus 6 (HHV-6) infection presented with in vitro bone marrow culture results suggestive of JMML.
  • Culture studies revealed increased spontaneous proliferation, inhibition by anti-GM-CSF antibodies, and GM-CSF hypersensitivity.
  • Polymerase chain reaction and viral culture confirmed HHV-6 infection.

Findings:

  • Perinatal HHV-6 infection can present with in vitro cellular proliferation patterns mimicking JMML.
  • The patient's condition improved with supportive care, normalizing blood counts and resolving hepatosplenomegaly.

Implications:

  • Viral infections, specifically HHV-6, should be considered in the differential diagnosis of infants with in vitro findings suggestive of JMML.
  • Observation is warranted for suspected JMML cases without progressive disease, especially when viral infection features are present.
  • This case broadens the understanding of viral mimicry in pediatric hematologic disorders.

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