t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma

Area of Science:

• Hematology
• Oncology
• Cytogenetics

Background:

• Granulocytic sarcoma is a rare extramedullary tumor composed of immature myeloid cells.
• Acute myelogenous leukemia (AML) can present with or be preceded by granulocytic sarcoma.
• Chromosomal abnormalities are common in myeloid malignancies and can influence prognosis and treatment.

Observation:

• A 56-year-old woman presented with gingival swelling and pain, diagnosed as granulocytic sarcoma based on biopsy findings (myeloperoxidase and CD45-positive large cells).
• Two years after initial diagnosis, bone marrow involvement was suspected.
• Karyotype analysis consistently revealed a 46,XX,t(5;12)(q13;p13) abnormality.

Findings:

• The chromosomal translocation t(5;12)(q13;p13) is exceptionally rare, with limited documented cases in medical literature.
• This represents the first reported instance of t(5;12)(q13;p13) in a patient with acute myelogenous leukemia that was preceded by granulocytic sarcoma.

Implications:

• This case highlights the importance of thorough cytogenetic analysis in patients with granulocytic sarcoma, even in the absence of overt bone marrow involvement.
• The rare t(5;12)(q13;p13) translocation may represent a distinct subtype of AML or a specific precursor lesion, warranting further investigation.
• Understanding the genetic landscape of rare myeloid malignancies can improve diagnostic accuracy and potentially guide therapeutic strategies.