Deep Spontaneous Molecular Remission In A Patient With Congenital Acute Myeloid Leukemia Expressing A Novel Moz-p300 Fusion Transcript
Ikawa, Y., Nishimura, R., Maeba, H., Fujiki, T., Kuroda, R., Noguchi, K., Fukuda, M., Mase, S., Araki, R., Mitani, Y., Sato, T., Terui, K., Ito, E., Kitabayashi, I., & Yachie, A. (2018). Deep spontaneous molecular remission in a patient with congenital acute myeloid leukemia expressing a novel MOZ-p300 fusion transcript. Leukemia & lymphoma, 59(10), 2497–2499. https://doi.org/10.1080/10428194.2018.1434885
View Original Source →Abstract
Adult acute myeloid leukemia (AML) with t(8;16)(p11;p13) is a rare subgroup with a poor prognosis. However, Coenen et al. [1] reported that spontaneous remission occurred in 7 of 17 congenital AML ...
Case Details
Disease Location
Skin, bone marrow
Personal Characteristics
Newborn girl
Clinical Characteristics
Presented with multiple skin nodules 1 day after birth. Bone marrow aspiration revealed 44% blast-like immature monocytic cells. Surface marker analysis showed that leukemic cells expressed cd11b, CD13, and CD33, and a diagnosis of aml (fab m5b) was made. Sequence analysis detected a novel in-frame moz-p300 fusion transcript, involving moz exon 16 and p300 exon 6. Skin biopsy revealed a diffuse dermal infiltration by leukemic cells that had the same phenotype as the blasts in the bone marrow.
Remission Characteristics
The skin nodules spontaneously regressed gradually. The patient achieved complete remission by 3 months of age. Droplet digital pcr did not detect any droplets from the bone marrow sample obtained at 3 months of age, suggesting that the patient achieved deep, complete remission without chemotherapy.
Treatment & Mechanisms
Proposed Remission Mechanisms
Congenital aml (m4/m5) cases presenting with skin involvement and chromosome 8 translocations have the potential for spontaneous remission.
Clinical Treatment
Bone marrow biopsy, skin biopsy
Non-Clinical Treatment
None reported