PMID- 37066443 OWN - NLM STAT- MEDLINE DCOM- 20230418 LR - 20230427 IS - 1473-2300 (Electronic) IS - 0300-0605 (Print) IS - 0300-0605 (Linking) VI - 51 IP - 4 DP - 2023 Apr TI - Infantile B-lymphoblastic leukemia: a case series and review of the literature. PG - 3000605231167789 LID - 10.1177/03000605231167789 [doi] LID - 03000605231167789 AB - Infantile leukemia is a rare hematological malignancy that occurs in the first year of life. It is an aggressive disease with peculiar immunophenotypic, cytogenetic, and molecular characteristics. It can be myeloid or lymphoid in origin. More than 80% of cases involve KMT2A gene rearrangement in the lymphoblastic subset, versus 50% in the myeloid subset. In this study, we present three cases of this rare entity to add knowledge about its clinical presentation and diagnostic profiles. These cases of infantile B-lymphoblastic leukemia (B-ALL) were retrospectively reviewed at the Department of Hematology, Section Cytogenetics at Indus Hospital and Health Network. The clinical characteristics, complete diagnostic profile, immunophenotypic profile, fluorescence in situ hybridization (FISH) results, treatments, and outcomes of the patients were assessed. All three infants were girls who presented with hyperleukocytosis, and they were diagnosed by eight-color flow cytometry. FISH studies revealed KMT2A gene rearrangement in two of the three patients. Infantile B-ALL is a biologically distinct disease carrying a poor prognosis. Female preponderance, hyperleukocytosis, and hepatosplenomegaly are common findings in this subgroup. No standard protocol for this rare entity has proven ideal for managing these young infants. FAU - Mansoor, Neelum AU - Mansoor N AUID- ORCID: 0000-0003-1650-0694 AD - Department of Hematology & Blood Center, Indus Hospital & Health Network, Karachi, Pakistan. FAU - Imran, Sadia AU - Imran S AD - Department of Pediatric Oncology, Indus Hospital & Health Network, Karachi, Pakistan. FAU - Maqsood, Sidra AU - Maqsood S AUID- ORCID: 0000-0002-2214-9047 AD - Indus Hospital Research Centre, Indus Hospital & Health Network, Karachi, Pakistan. FAU - Pasha, Shadab AU - Pasha S AD - Department of Hematology & Blood Center, Indus Hospital & Health Network, Karachi, Pakistan. FAU - Jabbar, Naeem AU - Jabbar N AD - Department of Hematology & Blood Center, Indus Hospital & Health Network, Karachi, Pakistan. LA - eng PT - Journal Article PT - Review PL - England TA - J Int Med Res JT - The Journal of international medical research JID - 0346411 RN - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein) SB - IM MH - Female MH - Male MH - Humans MH - In Situ Hybridization, Fluorescence MH - Retrospective Studies MH - *Myeloid-Lymphoid Leukemia Protein/genetics MH - *Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis/genetics/pathology PMC - PMC10127210 OTO - NOTNLM OT - Infant OT - KMT2A gene rearrangement OT - acute leukemia OT - flow cytometry OT - fluorescence in situ hybridization OT - immunophenotype COIS- The authors declare that there is no conflict of interest. EDAT- 2023/04/18 06:00 MHDA- 2023/04/18 10:16 PMCR- 2023/04/17 CRDT- 2023/04/17 04:10 PHST- 2023/04/18 10:16 [medline] PHST- 2023/04/17 04:10 [entrez] PHST- 2023/04/18 06:00 [pubmed] PHST- 2023/04/17 00:00 [pmc-release] AID - 10.1177_03000605231167789 [pii] AID - 10.1177/03000605231167789 [doi] PST - ppublish SO - J Int Med Res. 2023 Apr;51(4):3000605231167789. doi: 10.1177/03000605231167789.