t(8;16)(p11;p13) predisposes to a transient but potentially recurring neonatal leukemia.
A Chinese girl presented with generalized papular rash and monocytic leukemia 19 days after birth. Cytogenetic analysis showed t(8;16)(p11.2;p13.3) as the sole chromosomal abnormality. Spontaneous regression of the leukemia was observed after 2 months, although the t(8;16) translocation persisted cytogenetically. This was followed 7 months later by the development of acute myeloid leukemia with maturation and cytogenetic evolution with extra chromosomes 4 and 8. Molecular study showed that the reciprocal MYST3 and CREBBP gene fusion characteristic of t(8;16) translocation persisted throughout the clinical course, even during spontaneous regression of the neonatal leukemia, and after chemotherapy-induced remission of the subsequent acute myeloid leukemia. The genetic lesion only became undetectable at the molecular level at the age of 20 months. The possible role of MYST3 and CREBBP gene fusion in the pathogenesis of the leukemia is discussed.
Wong
Kit-Fai
KF
Department of Pathology, Queen Elizabeth Hospital, Hong Kong SAR, China. kfwong@ha.org.hk
Yuen
Hui-Leung
HL
Siu
Lisa L P
LL
Pang
Annie
A
Kwong
Yok-Lam
YL
D050882:CREB-Binding Protein / Q000235:genetics; D002898:Chromosomes, Human, Pair 8; D005260:Female; D050939:Gene Fusion; D051548:Histone Acetyltransferases / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007948:Leukemia, Monocytic, Acute / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy / Q000235:genetics*; D012075:Remission, Spontaneous; D014178:Translocation, Genetic
D050882:CREB-Binding Protein; C494363:CREBBP protein, human; D051548:Histone Acetyltransferases; C108712:KAT6A protein, human