Spontaneous regression of congenital leukaemia with an 8;16 translocation

Abstract

Summary. Congenital leukaemia (CL) is a rare disorder that presents with extramedullary infiltrates and a myeloid phenotype. CL can progress rapidly without adequate treatment, but, paradoxically, may also remit spontaneously. Because of the significant toxicity involved in delivering chemotherapy to newborns, it is important to identify those newborns who may not require treatment. We describe an infant who presented at 1 week of age with congenital myeloid leukaemia. Cytogenetic analysis revealed a t(8;16)(q11;p13) translocation. The infant's leukaemia underwent a spontaneous regression. This case further confirms the possibility of spontaneous remission in congenital leukaemia. Moreover, it suggests that the presence of a clonal cytogenetic aberration does not preclude the possibility of a spontaneous regression in CL.Keywords: congenital leukaemia, treatment, chemotherapy, transient leukaemia, t(8;16).Congenital leukaemia (CL) is defined as the appearance of a leukaemic process in the newborn and immediate neonatal period (Weitzman & Grant, 1997). CL is extremely rare and its biology and natural history are poorly understood. The need for, and type of, treatment required in these patients has not been established. There have been several reports of spontaneous remissions in CL (Sainati et al, 1996;Lampkin, 1997), as well as reports of successful treatment of infants with CL using chemotherapy. As anti-leukaemic therapy in infants carries a significant risk for morbidity and mortality, it is important to base treatment decisions in these infants on well-defined criteria. We report a case of congenital leukaemia with a t(8;16) translocation that underwent a spontaneous remission. The implications of this finding and the therapeutic dilemmas raised by this disorder are discussed. CASE REPORTThe patient was the product of a normal full-term pregnancy. At the age of 7 d, partially elevated, purple± blue cutaneous nodules were noted over most of the skin surface. A biopsy of a lesion revealed an infiltration of the dermis by immature haematopoietic cells. Immunohistochemical stains were positive for myeloperoxidase, CD68 and LCA (leucocyte common antigen) and negative for CD1a, s100, CD34, keratin and an (unspecified) pan B marker.On admission, physical examination revealed a well appearing female infant with multiple, partially elevated purplish skin lesions. There was no hepatosplenomegaly or lymphadenopathy.The haemoglobin level was 9´2 g/dl, platelets were 356 Â 10 9 /l. The leucocyte count was 10´7 Â 10 9 /l, with 80% lymphocytes, 13% neutrophils, 3% band forms, 2% monocytes and 2% blasts. A bone marrow aspirate revealed a hypercellular marrow that contained 70±80% myelomonoblasts consistent with an M4 subtype. Immunophenotyping of the bone marrow showed the cells to be positive for HLA-DR, CD11b, CD13, CD 14, CD33, CD 42, CD10 and CD19, and negative for CD34, CD20 and CD2. Cytogenetic studies of the bone marrow revealed an abnormal female karyotype of 46,XX, t(8;16)(q11;p13) in six out of 21 metaphases analy...

Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique

“…43 A t(8;16)(q11;p13), probably involving CREBBP, has also been reported in a congenital AML-M4 with spontaneous regression. 44 In contrast to these three regressive cases, the prognosis of AML with t(8;16) is overall poor. Indeed, although patients of our series were often old and therapies were different, our data confirm the poor prognosis of MYST3-linked AML.…”

A lineage switch from AML to ALL with persistent translocation t(4;11) in congenital leukemia

“…In contrast to childhood leukemia, neonate and infant leukemia is classified more frequently as myeloid than lymphoblastic leukemia (9:1) [3]. Although the prognosis of CL is poor, spontaneous remissions have been reported [4,5].Lineage switches of the leukemic cell clones from lymphoid to myeloid and vice versa have been reported infrequently. Our experience with such a case is of interest.…”

t(8;16)(p11;p13) predisposes to a transient but potentially recurring neonatal leukemia

“…The incidence could be higher, because it might take 2 to 3 months for the spontaneous remission to occur, and cytotoxic treatment was often administered early in reported cases of congenital or neonatal leukemia with t(8;16) translocation. Weintraub et al [17] also reported a neonate who presented with purple-blue cutaneous nodules and acute myelomonocytic leukemia that spontaneously regressed after 5 months. Cytogenetic analysis showed t(8;16)(q11;p13) with a different breakpoint in chromosome 8, suggesting rearrangement of CREBBP might be the more important genetic alteration in this unusual form of self-limiting leukemia in neonates.…”