Supernumerary isochromosome 1, idic(1)(p12), leading to tetrasomy 1q in Burkitt lymphoma.
Burkitt lymphoma (BL) is an aggressive mature B-cell neoplasm. The cytogenetic hallmark are MYC-involving translocations, most frequently as t(8;14)(q24;q32). Additional cytogenetic abnormalities are seen in the majority of cases. The most frequent additional aberration involves the long arm of chromosome 1, either as partial or complete trisomy 1q. A very rare additional aberration is a supernumerary isochromosome 1q, i(1)(q10), resulting in tetrasomy 1q. The biological significance of this aberration is unclear. We present a highly aggressive case of BL in a child with immature B-cell immunophenotype (IP) and supernumerary i(1)(q10). Diagnostic karyotyping showed 47,XY,+i(1)(q10),t(8;14)(q24;q32)[2]/47,idem,del(15)(q24)[21]/46,XY[2]. aCGH analysis detected a gain of 1p12qter and a loss of 15q22q25. FISH analysis confirmed the isodicentric chromosome 1, which has not previously been reported in BL. In the literature, supernumerary i(1)(q10) was found in 11 cases of which >80% presented with immature B-cell IP and >60% relapsed or died. Tetrasomy 1q resulting from supernumerary idic(1)(p12) or i(1)(q10) is a rare genetic event in BL and probably associated with immature B-cell IP. We propose that high amplification of genes on chromosome 1p12qter may contribute to the BL IP and disease progression.
Section of Flow Cytometry, The Hemodiagnostic Laboratory, Aarhus University Hospital, Aarhus, Denmark.
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Roug
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Wendtland
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Bendix
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Kjeldsen
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001402:B-Lymphocytes / Q000737:chemistry / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D002051:Burkitt Lymphoma / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002648:Child; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics / Q000648:ultrastructure*; D003131:Combined Modality Therapy; D055028:Comparative Genomic Hybridization; D003951:Diagnostic Errors; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes / Q000235:genetics; D008297:Male; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis; D012008:Recurrence; D017384:Sequence Deletion; D058670:Tetrasomy; D014178:Translocation, Genetic