Transient monosomy 7 - A case series in children and review of the literature

BACKGROUND, Monosomy 7 and deletions of the long arm of chromosome 7 [del ( 7q)] are recurrent, nonrandom chromosomal abnormalities associated with bot h de novo and therapy-related myelodysplastic syndromes (MDS). The overall prognosis for children and adults with these chromosomal abnormalities is p oor. In the current report, the authors present five children with MDS asso ciated with monosomy 7/del(7q) who achieved spontaneous hematologic disease remission as well as a review of the literature. METHODS. Five children with either de novo or treatment-related MDS who ach ieved spontaneous hematologic disease remission are presented. Relevant cli nical, cytogenetic, and fluorescent in situ hybridization data are included . RESULTS. All patients were boys. Three had de novo MDS whereas two others p reviously had received chemotherapy for another malignancy. Four patients a chieved spontaneous and durable hematologic disease remission that was asso ciated with cytogenetic disease remission in all three patients tested. The fifth patient developed a disease recurrence and died with evidence of clo nal evolution after a long interval of hematologic and cytogenetic remissio n. CONCLUSIONS, A subset of children who develop MDS associated with monosomy 7 or del(7q) achieve spontaneous hematologic and cytogenetic improvement. A lthough this appears to be uncommon, further data are needed to determine t he percentage of patients who improve without therapy and to define clinica l characteristics that may predict this clinical outcome. These findings su ggest that monosomy 7/del(7q) is insufficient to produce full leukemic tran sformation. Cancer 1999;85:2655-61, (C) 1999 American Cancer Society.