title: Homozygous inv(11)(q21q23) and MLL gene rearrangement in two patients with myeloid neoplasms.
abstract: Rearrangements of the MLL gene located at chromosome 11q23 are common chromosomal abnormalities associated with acute leukemias. In vast majority of cases with MLL gene rearrangements, only one chromosome 11 or a single MLL allele got involved. We report two very unusual cases of myeloid neoplasms with homozygous inv(11)(q21q23) and biallelic MLL rearrangement. Both patients, a 12-year old boy and a 29-year old woman, presented initially with T lymphoblastic leukemia/lymphoma (T-ALL), achieved complete remission with intensive chemotherapy, then recurred as acute myeloid leukemia in one patient and therapy-related myelodysplastic syndromes in the other patient, 24 and 15 months after initial T-ALL diagnosis, respectively. In both cases, biallelic MLL gene rearrangements were confirmed by fluorescence in situ hybridization. Mastermind like 2 gene was identified as MLL partner gene in one case. To our knowledge, homozygous inv(11)(q21q23) with two MLL genes rearrangement are extremely rare; it is likely a result of acquired uniparental disomy.
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center Houston, TX 77030, USA.
authors.forename: Guilin
authors.initials: G
authors.lastname: Tang
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center Houston, TX 77030, USA.
authors.forename: Xinyan
authors.initials: X
authors.lastname: Lu
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center Houston, TX 77030, USA.
authors.forename: Sa A
authors.initials: SA
authors.lastname: Wang
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX 77030, USA.
authors.forename: Erin K
authors.initials: EK
authors.lastname: Roney
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center Houston, TX 77030, USA.
authors.forename: Liping
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center Houston, TX 77030, USA.
authors.forename: Shimin
authors.initials: S
authors.lastname: Hu
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center Houston, TX 77030, USA.
authors.forename: Gary
authors.initials: G
authors.lastname: Lu
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center Houston, TX 77030, USA.
authors.forename: L Jeffrey
authors.initials: LJ
authors.lastname: Medeiros
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX 77030, USA.
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
mesh_terms: D000328:Adult; D002648:Child; D007446:Chromosome Inversion / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005260:Female; D015321:Gene Rearrangement; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000473:pathology; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology; D016609:Neoplasms, Second Primary / Q000235:genetics / Q000473:pathology; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology
chemical_list: C497422:KMT2A protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase
keywords: Inv(11)(q21q23); MLL-MAML2 fusion; T lymphoblastic leukemia; acquired uniparental disomy; homozygosity; myeloid neoplasms