A searchable database of
medically documented cases

About the Project

Spontaneous Regression Of Congenital Leukaemia With An 8;16 Translocation

Weintraub et al., 2000Leukemia

Weintraub, M., Kaplinsky, C., Amariglio, N., Rosner, E., Brok-Si monthsi, F., & Rechavi, G. (2000). spontaneous regression of congenital leukaemia with an 8;16 translocation. British journal of haematology, 111(2), 641–643. https://doi.org/10.1046/j.1365-2141.2000.02356.x

View Original Source →

Abstract

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.

Case Details

Disease Location

Skin/bone marrow

Personal Characteristics

7 day old, female pregnancy was normal and full-term

Clinical Characteristics

At 7 days old, physical revealed that patient had partially elevated, purple-blue cutaneous nodules over most of the skin surface biopsy revealed an infiltration of the dermis by immature hematopoietic cells ihc stains were positive for myeloperoxidase, CD68 and lca leukocyte count was 10.7x10^9/l with 80% lymphocytes, 13% neutrophils, 3% band forms, 2% monocytes, and 2% blasts bone marrow aspirate revealed hypercellular marrow that contained 70-80% myelo monoblasts consistent with an m4 subtype immunophenotyping of the bonemarrow showed the cells to be positive for HLA-dr, cd11b, 13, 14, 33, 42, 10 and 19 cytogenetic studies of marrow revealed an abnormal female karyotype of 46, xx, t(8;16)(q11;p13) in 6/21 metaphases

Remission Characteristics

Over the course of the next weeks, there was a gradual fading of skin lesions, blood count remained stable and circulating blasts disappeared by the age of 5 months the skin lesions resolved completely and repeat marrow aspiration was morphs and cytogenetically normal at time of writing, patient was 15 months old and doing well with no evidence of disease

Treatment & Mechanisms

Proposed Remission Mechanisms

No major mechanism proposed

Clinical Treatment

None reported

Non-Clinical Treatment

None reported