Unravelling myelofibrosis in infants: A hidden pediatric challenge!

Area of Science:

• Pediatric Hematology
• Oncology
• Cytogenetics

Background:

• Infantile acute megakaryoblastic leukemia (AMKL) is a rare and aggressive subtype of acute myeloid leukemia.
• Diagnosis can be challenging, particularly in cases with myelofibrosis, which may obscure the presence of leukemic blasts.

Purpose of the Study:

• To highlight the diagnostic challenges of AMKL in the context of myelofibrosis.
• To underscore the importance of thorough bone marrow examination, including repeat aspirations and advanced techniques, for accurate diagnosis.

Main Methods:

• Case presentation of a 6-month-old infant with fever, hepatosplenomegaly, and initial negative bone marrow cultures.
• Bone marrow aspiration and biopsy revealing myelofibrosis and suppressed hematopoiesis.
• Repeat bone marrow aspiration, immunophenotyping (flow cytometry), and cytogenetic analysis identifying AMKL with Trisomy 8 and 19.

Main Results:

• Initial bone marrow aspiration yielded a dry tap, with biopsy showing myelofibrosis.
• Repeat aspiration revealed 22% blasts, confirmed as AMKL by flow cytometry.
• Cytogenetic analysis showed Trisomy 8 and 19.

Conclusions:

• Myelofibrosis can mask AMKL, necessitating careful evaluation of bone marrow samples.
• Early and accurate diagnosis through comprehensive methods like immunophenotyping and cytogenetics is vital for appropriate management of infantile AMKL.
• This case underscores the need to suspect AMKL even with initial non-diagnostic bone marrow findings.