Spontaneous remission of congenital acute myeloid leukemia with t(8;16)(p11;13)

Abstract

To The Editor: We report a case of congenital acute myeloid leukemia (AML) with t(8;16) that went into spontaneous remission. A full-term female presented with blueberry muffin spots at birth. A skin biopsy revealed a diffuse dermal infiltration by immature hematopoietic cells and was diagnosed as myelo-sarcoma (Fig. 1A and B). At Day 10, the patient's bone marrow showed 32.8% leukemic blasts (Fig. 1C and D). A subset of the leukemic blasts was weakly positive for myeloperoxidase (MPO) and others showed weak reactivity for nonspecific esterase (NSE) (Fig. 1E and F), consistent with AML, M4 subtype by FAB criteria.

Neonatal leukaemia

“…Other subtypes of AML that are more characteristic of older children and adults can, likewise, present as neonatal leukaemia, specifically t(8;21)(q22;q22.1); RUNX1‐RUNX1T1 (Nanda et al , ) and t(8;16)(p11.2;p13.3)/ KAT6A‐CREBBP and variants (Table ). Cases with t(8;16) (Schouten et al , ; Bernstein et al , ; Zandecki et al , ; Hanada et al , ; Sainati et al , ; Dinulos et al , ; Classen et al , ; Wong et al , ; Wu et al , ; Coenen et al , ; Barrett et al , ), together with those with t(1;22), are the most common subtypes of neonatal AML after cases with rearrangement of KMT2A . It is of interest that two neonates with t(8;16)‐associated neonatal leukaemia had underlying Noonan syndrome (Wong et al , ; Barrett et al , ).…”

FISH identifies a KAT6A/CREBBP fusion caused by a cryptic insertional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype

“…Although several other cases of spontaneously regressing congenital AML with t(8;16) (p11.2;p13.3) have been reported, to our knowledge, this is the first case report with a normal karyotype and a cryptic insertional t(8;16) (p11.2;p13.3) resulting in the KAT6A / CREBBP fusion identified exclusively by FISH. In the absence of FISH testing for this specific translocation, this infant may have been subjected unnecessarily to chemotherapy.…”

“…Of nine infants with congenital AML harboring t(8;16) (p11.2;p13.3) , all had skin manifestations at the time of presentation, and the majority had acute myelomonocytic/monocytic leukemia (also known as FAB M4 or M5 AML) . Five patients subsequently underwent spontaneous remission . The remaining four patients were treated with chemotherapy, potentially masking spontaneous regression.…”

“…Contrary to leukemia in older children, acute myeloid leukemia (AML) is more common than acute lymphoblastic leukemia in the newborn population . Approximately 5% of patients with congenital AML undergo spontaneous remission, typically within 2–4 months from diagnosis . The clinical challenge lies in identifying those children whose leukemia is likely to spontaneously regress, so that they can be managed expectantly and avoid chemotherapy.…”

Spontaneous remission of congenital AML with skin involvement and t(1;11)(p32;q23)

“…While most TMD cases resolve spontaneously, 20–30% would present with AML later . Leukemia cutis is common in spontaneously regressing infant AML with t(8;16)(p11;p13); among seven infants reported, four relapsed with a median of 17 months . Here, we report a congenital AML case with t(1;11)(p32;q23) involving the Mixed lineage leukemia ( MLL ) gene with sustained spontaneous remission.…”