title: Three rearrangements of chromosome 5 in a patient with myelodysplastic syndrome: an atypical deletion 5q, a complex intrachromosomal rearrangement of chromosome 5, and a paracentric inversion of chromosome 5.
abstract: We report the case of a 74-year-old man who sought care for de novo myelodysplastic syndrome (RAEB-1). Conventional cytogenetic techniques showed a karyotype with two different deletions of the long arm of chromosome 5 distributed in three clones: 46,XY,del(1)(p34),del(5)(q14q23)[2]/46,XY,del(1)(p34),del(5)(q14q34)[10]/46,idem,inv(5)(q?11q?34)[7]. Precise characterization of the breakpoints, delineation of the deleted regions, identification of the complex intrachromosomal rearrangement of chromosome 5, and sequential accumulation of chromosomal abnormalities were elucidated by several fluorescence in situ hybridization analyses. We also assessed the clinical, biological, and cytogenetic evolution under lenalidomide treatment and after its interruption.
authors.affiliation: Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Douet-Guilbert
authors.forename: Audrey
authors.initials: A
authors.lastname: Basinko
authors.forename: Jean-Richard
authors.initials: JR
authors.lastname: Eveillard
authors.forename: Frédéric
authors.initials: F
authors.lastname: Morel
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Le Bris
authors.forename: Nadia
authors.initials: N
authors.lastname: Guéganic
authors.forename: Clément
authors.initials: C
authors.lastname: Bovo
authors.forename: Angèle
authors.initials: A
authors.lastname: Herry
authors.forename: Christian
authors.initials: C
authors.lastname: Berthou
authors.forename: Marc
authors.initials: M
authors.lastname: De Braekeleer
mesh_terms: D000368:Aged; D002871:Chromosome Banding; D002874:Chromosome Mapping; D022202:Chromosomes, Artificial, Bacterial; D002895:Chromosomes, Human, Pair 5; D003582:Cytogenetics; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D000077269:Lenalidomide; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D013792:Thalidomide / Q000031:analogs & derivatives / Q000494:pharmacology
chemical_list: D013792:Thalidomide; D000077269:Lenalidomide