PMID- 24635731 OWN - NLM STAT- MEDLINE DCOM- 20150528 LR - 20140915 IS - 1600-0609 (Electronic) IS - 0902-4441 (Linking) VI - 93 IP - 4 DP - 2014 Oct TI - Complex MLL rearrangement in non-infiltrated bone marrow in an infant with stage II precursor B-lymphoblastic lymphoma. PG - 349-53 LID - 10.1111/ejh.12314 [doi] AB - PURPOSE: Precursor B-lymphoblastic lymphoma cells are indistinguishable by morphology, and immune phenotype from lymphoblasts in acute leukemia which in infancy is associated with MLL rearrangements and a poor prognosis. The role of MLL gene deregulation in rare cases of isolated lymphoblastic lymphoma in infants is obscure. We report the case of a 10-month-old child who presented with a cutaneous nodule on the left foot. Histological diagnosis was precursor B-lymphoblastic lymphoma. The young age of the patient motivated us to investigate the presence of an MLL rearrangement. METHODS: Cytogenetic analysis was performed by fluorescence in situ hybridization (FISH), and the genomic fusion partner of MLL was identified by long-distance inverse (LDI-)PCR and confirmed by direct PCR. RESULTS: Fluorescence in situ hybridization screening of paraffin-embedded formalin-fixed tissue indeed revealed the presence of an MLL rearrangement. The genomic fusion partner was identified as AF10 by DNA sequencing of the MLL breakpoint region. The MLL-AF10 fusion gene was further detected in cytologically normal pretreated bone marrow. Treatment was started with standard four-drug induction chemotherapy. Because of the unfavorable outcome associated with MLL rearrangements in infant leukemia, we intensified postremission treatment according to the Interfant-06 study protocol. The child is in continuous first remission 36 months after diagnosis. CONCLUSION: This is the first report of submicroscopic bone marrow involvement in MLL-rearranged isolated cutaneous B-cell precursor lymphoma in an infant. To prospectively address the role of MLL rearrangements in extramedullary B-lymphoblastic malignancies in infants, we suggest to assess both tumors and non-infiltrated bone marrow for the presence of this genetic abnormality. CI - (c) 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. FAU - Ahlmann, Martina AU - Ahlmann M AD - Pediatric Hematology and Oncology, University Children's Hospital Muenster, Muenster, Germany. FAU - Meyer, Claus AU - Meyer C FAU - Marschalek, Rolf AU - Marschalek R FAU - Burkhardt, Birgit AU - Burkhardt B FAU - Koehler, Gabriele AU - Koehler G FAU - Klapper, Wolfram AU - Klapper W FAU - Juergens, Heribert AU - Juergens H FAU - Rossig, Claudia AU - Rossig C LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20140428 PL - England TA - Eur J Haematol JT - European journal of haematology JID - 8703985 RN - 0 (Oncogene Proteins, Fusion) RN - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein) SB - IM MH - Bone Marrow/*pathology MH - Chromosome Breakpoints MH - Dermis/pathology MH - Humans MH - Infant MH - Male MH - Myeloid-Lymphoid Leukemia Protein/*genetics MH - Neoplasm Staging MH - Oncogene Proteins, Fusion MH - Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/diagnosis/*genetics/*pathology MH - *Translocation, Genetic OTO - NOTNLM OT - B-lymphoblastic lymphoma OT - MLL rearrangement OT - infant ALL EDAT- 2014/03/19 06:00 MHDA- 2015/05/29 06:00 CRDT- 2014/03/19 06:00 PHST- 2014/03/12 00:00 [accepted] PHST- 2014/03/19 06:00 [entrez] PHST- 2014/03/19 06:00 [pubmed] PHST- 2015/05/29 06:00 [medline] AID - 10.1111/ejh.12314 [doi] PST - ppublish SO - Eur J Haematol. 2014 Oct;93(4):349-53. doi: 10.1111/ejh.12314. Epub 2014 Apr 28.