A Favourable Outcome in a Congenital Leukaemia Patient With Unique Cytogenetic Abnormalities

Area of Science:

• Pediatric Hematology
• Oncology
• Genetics

Background:

• Congenital leukemia (CL) is a rare intrauterine hematologic malignancy with a poor prognosis.
• Early diagnosis and treatment are crucial for improving outcomes in neonatal cancers.

Observation:

• A seven-day-old infant presented with fever and hepatosplenomegaly, initially suspected as neonatal sepsis.
• Bone marrow analysis revealed B acute lymphoblastic leukemia with 90% blast cells.
• The patient exhibited a complex and unusual karyotype: 46,XX,der(5) t(5;15)(p15;q15),del(7)(q33q35)/47,idem,+2.ish t(5;15)(wcp15+)+22(wcp22+).

Findings:

• The patient achieved multiple remissions and survived for over three years following treatment with the Interfant 06 chemotherapy protocol.
• The presence of del(7) and t(5;15)(p15;q15) was noted, with the latter potentially contributing to the favorable outcome.
• Trisomy 22 was identified as a clonal abnormality, though its specific role remains unclear.

Implications:

• This case demonstrates that even with highly atypical cytogenetic findings, favorable outcomes are possible in congenital B acute lymphoblastic leukemia.
• The translocation t(5;15)(p15;q15) may be a favorable prognostic indicator in this specific context.
• Further research is needed to elucidate the significance of trisomy 22 in congenital lymphoid disorders.