title: Genomic profiling of myeloid sarcoma by array comparative genomic hybridization.
abstract: Myeloid sarcoma (MS) is a tumor mass of myeloblasts or immature myeloid cells occurring in an extramedullary site. In this study, seven cases of MS [stomach (1), testis (1), skin (2), and lymph node (3)] and 3 synchronous and 1 follow-up bone marrow (BM) samples were studied for genomic abnormalities using array comparative genomic hybridization (array-CGH). Array-CGH construction used approximately 5,400 bacterial artificial chromosome clones from the RPCI-11 library, spanning the human genome. Data were analyzed using the DNAcopy software and custom heuristics. All MS cases had genomic abnormalities detected by array-CGH. Unbalanced genomic abnormalities in five MS cases were confirmed by conventional cytogenetics (CC) and/or fluorescence in situ hybridization (FISH); these abnormalities included loss of 4q32.1-q35.2, 6q16.1-q21, and 12p12.2-p13.2 and gain of 8q21.2-q24.3, 8, 11q21-q25, 13q21.32-q34, 19, and 21. Array-CGH was also invaluable in identifying possible deletions, partner translocations, and breakpoints that were questionable by CC. The remaining two MS cases had genomic aberrations detected by array-CGH, but were not studied further by CC/FISH. Chromosome 8 was most commonly abnormal (3/7 cases). Identical genomic abnormalities were demonstrated in MS and in synchronous BM in two cases. These results demonstrate that array-CGH is a powerful tool to screen MS tissue for unbalanced genomic abnormalities, allowing identification of chromosome abnormalities when concurrent BM is nonanalyzable or nonleukemic.
authors.affiliation: Department of Pathology and Laboratory Medicine, Roswell Park Cancer Institute, Buffalo, NY 14263, USA. george.deeb@roswellpark.org
authors.forename: George
authors.initials: G
authors.lastname: Deeb
authors.forename: Maria R
authors.initials: MR
authors.lastname: Baer
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Gaile
authors.forename: Sheila N Jani
authors.initials: SN
authors.lastname: Sait
authors.forename: Maurice
authors.initials: M
authors.lastname: Barcos
authors.forename: Meir
authors.initials: M
authors.lastname: Wetzler
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Conroy
authors.forename: Norma J
authors.initials: NJ
authors.lastname: Nowak
authors.forename: John K
authors.initials: JK
authors.lastname: Cowell
authors.forename: Richard T
authors.initials: RT
authors.lastname: Cheney
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D022202:Chromosomes, Artificial, Bacterial; D020732:Cytogenetic Analysis; D004247:DNA / Q000032:analysis*; D005260:Female; D018628:Gene Dosage; D020869:Gene Expression Profiling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D046228:Microarray Analysis; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D023981:Sarcoma, Myeloid / Q000235:genetics* / Q000473:pathology; D012680:Sensitivity and Specificity
chemical_list: D004247:DNA