title: Monosomy 7 syndrome in an infant with neurofibromatosis.
abstract: A 9-month-old boy with known familial neurofibromatosis type I (NF-1) presented with a clinical and laboratory picture suggestive of juvenile chronic myelomonocytic leukemia (JCMMoL). Chromosomal studies obtained from the bone marrow indicated, however, that he had monosomy 7 syndrome. We believe this is the first reported case of monosomy 7 syndrome in a child with NF in the United States, and that this case complements a recent report of two cases of NF, JCMMoL, and monosomy 7 in Japanese children. Since monosomy 7 syndrome is very difficult to differentiate from JCMMoL or acute nonlymphocytic leukemia (ANLL) unless appropriate chromosomal studies are obtained, we believe it is possible that monosomy 7 may occur with increased frequency in patients with NF-1. Monosomy 7 syndrome might therefore be a significant cause of the known association between NF-1 and nonlymphoid leukemia.
authors.affiliation: Division of Hematology/Oncology, Baystate Medical Center, Springfield, Massachusetts 01199.
authors.forename: J F
authors.initials: JF
authors.lastname: Kelleher
authors.forename: T V
authors.initials: TV
authors.lastname: Carbone
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D016026:Bone Marrow Transplantation; D002897:Chromosomes, Human, Pair 7; D003131:Combined Modality Therapy; D003561:Cytarabine / Q000008:administration & dosage; D003630:Daunorubicin / Q000008:administration & dosage; D003907:Dexamethasone / Q000008:administration & dosage; D003937:Diagnosis, Differential; D005047:Etoposide / Q000008:administration & dosage; D006801:Humans; D007223:Infant; D015477:Leukemia, Myelomonocytic, Chronic / Q000175:diagnosis; D008297:Male; D009000:Monocytes / Q000473:pathology; D009006:Monosomy; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D011289:Preleukemia / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000601:surgery; D013577:Syndrome; D013866:Thioguanine / Q000008:administration & dosage
chemical_list: D003561:Cytarabine; D005047:Etoposide; D003907:Dexamethasone; D013866:Thioguanine; D003630:Daunorubicin