Transient spontaneous remission in congenital MLL-AF10 rearranged acute myeloid leukemia presenting with cardiorespiratory failure and meconium ileus

Abstract

BackgroundNeonatal leukemia is a rare disease with an estimated prevalence of about one to five in a million neonates. The majority being acute myeloid leukemia (AML), neonatal leukemia can present with a variety of symptoms including hyperleucocytosis, cytopenia, hepatosplenomegaly, and skin infiltrates. Chromosomal rearrangements including mixed lineage leukemia (MLL) translocations are common in neonatal AML.Case presentationA female neonate born at 34 weeks gestation presented with cardiorespiratory failure, hepatosplenomegaly, pancytopenia, and coagulopathy. She required intensive care treatment including mechanical ventilation, high-dose catecholamine therapy, and multiple transfusions. Small intestinal biopsy obtained during laparotomy for meconium ileus revealed an infiltrate by an undifferentiated monoblastic, MLL-rearranged leukemia. No other manifestations of leukemia could be detected. After spontaneous clinical remission, lasting 5 months without any specific treatment, the patient presented with leukemia cutis and full-blown monoblastic leukemia. MLL-AF10-rearranged AML could be re-diagnosed and successfully treated with chemotherapy and hematopoietic stem cell transplantation.ConclusionsOur patient exhibited a unique manifestation of neonatal MLL-AF10 rearranged AML with cardiorespiratory failure and intestinal infiltration. It highlights the importance of leukemia in the differential diagnosis of neonatal distress, congenital hematological abnormalities, and skin lesions.

Neonatal leukaemia

“…Spontaneous remission also occurred in a neonate with t(5;6)(q31;q21) (Mayer et al , ) and in another with a normal karyotype who had leukaemia cutis, hepatosplenomegaly, extreme hyperleucocytosis (>500 × 10 9 /l) and approximately 50% blasts in the bone marrow (Lampkin et al , ). The outcome in these and other reported cases of spontaneously remitting neonatal leukaemia are summarised in Table In addition to spontaneous remission, babies with neonatal leukaemia have sometimes had a strikingly rapid response to initiation of chemotherapy (Odom & Gordon, ), a remission following minimal chemotherapy (d'Orazio et al , ; Gyárfás et al , ) or a sustained remission following suboptimal chemotherapy, with or without leukapheresis (Warrier et al , ).…”

“…Timely exchange transfusion to reduce hyperviscosity‐related symptoms may be considered but this should not delay the initiation of chemotherapy. Close monitoring of fluid balance and renal and hepatic function, in addition to the blood count and film, is essential; prematurity can exacerbate any complications (Lazure et al , ; Ferguson et al , ; Van der Linden et al , ; Gyárfás et al , ). Tumour lysis is also a concern, especially in the context of immature renal function, and therefore careful attention to hydration is essential.…”

Transient Abnormal Myelopoeisis and Mosaic down Syndrome in a Phenotypically Normal Newborn

“…These agents are myelosuppressive and have the potential for significant organ toxicity. Only in very rare cases do congenital leukemias appear to self-resolve, and these cases do not often have any single unifying cytogenetic abnormality [8][9][10][11][12][13]. This is in contrast to DS-associated TAM, which occurs in approximately 10% of newborns with DS [1,2].…”

A newborn with congenital mixed phenotype acute leukemia with complex translocation t(10;11)(p12;q23) with KMT2A/MLLT10 rearranged – a report of an extremely rare case

“…In a study of 756 children with kMt2a-rearranged AML, translocation t(10;11)(p12;q23) was established as an independent predictor of unfavorable prognosis with 5-year event-free survival (EFS) and overall survival (OS) of 32% each and probability of cumulative incidence of relapse of 52% [14]. However, the prognostic significance of this genetic entity may not be fully recognized due to molecular heterogeneity of the translocation and the small number of documented cases, including very sparse data on leukemia of neonates, which are presented in Table 1 [2,[22][23][24].…”