An hsr on chromosome 7 was shown to be an insertion of four copies of the 11q23 MLL gene region in an HIV-related lymphoma.
A 45-year-old male with AIDS presented with a cecal diffuse large B-cell lymphoma. Cytogenetic and flourescence in situ hybridization (FISH) studies revealed a complex karyotype with multiple aberrations that included a translocation, t(8;14) involving MYC on chromosome 14. This is specific to B-cell lymphomas. There were also frequently observed secondary changes such as chromosome 1 rearrangement leading to trisomy of 1q and loss of tp53 from the deleted chromosome 17. A unique secondary abnormality was an hsr on chromosome 7, which by FISH and SKY investigations was shown to originate from chromosome 11 involving 4 copies of the MLL gene region.
Reddy
K S
KS
Cytogenetic Department, Quest Diagnostics Inc., 33608 Ortega Highway, San Juan Capistrano, CA, USA. reddyk@questdiagnostics.com
Parsons
L
L
Mak
L
L
Chan
J A
JA
D002430:Cecal Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D018628:Gene Dosage; D016259:Genes, myc; D015658:HIV Infections / Q000150:complications; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping / Q000379:methods; D016393:Lymphoma, B-Cell / Q000150:complications / Q000235:genetics* / Q000473:pathology; D016403:Lymphoma, Large B-Cell, Diffuse / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D051788:Myeloid-Lymphoid Leukemia Protein; D011519:Proto-Oncogenes; D014157:Transcription Factors; D014178:Translocation, Genetic
D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase