Dados do Trabalho

Título

Low-blast count acute myeloid Leukemia in a teenager, a diagnostic challenge: case report

Apresentação do caso

16-year-old female with persistent fever and hepatosplenomegaly. The initial workout showed
hyperleukocytosis with deviation towards promyelocytes and increased inflammatory markers.
Abdominal imaging showed abscesses in the liver and kidney and antimicrobial regimen was
prescribed. Patients evolved with resolution of the fever and the laboratory changes. However, the
results of the BM aspirate showed translocation t(8,21), despite the normal myelogram and
immunophenotyping. Due to the patient's stability and absence of increase in the number of blasts in
the marrow, chosen to repeat the exam with similar results. Then, the patient develops an external
mass which biopsy demonstrates AML infiltration. She then underwent chemotherapy according to
the GELMAI protocol with clinical and molecular remission after induction.

Discussão

The Low-Blast-Count AML presents with t(8;21) or inv(16) and acute promyelocytic leukemia (APL)
with t(15;17). Patients with t(8,21) and inv(16) can present with normal myelogram and
immunophenotyping, but this is unusual, making this diagnosis a challenge. Therefore, the use of
molecular analysis for diagnostics and treatment of AML.

Comentários Finais

Acute myeloid leukemia (AML) is a neoplasm of immature myeloid cells. AML often involves the
bone marrow (BM) but may manifest in extramedullary tissue. Traditionally, AML was defined by the
presence of more than 20% myeloid blasts on BM aspirate. However, in 2008, WHO included three
defining recurrent cytogenetic abnormalities, such as t(8;21). Therefore, this report describes an
adolescent with t(8.21) with low blast count.