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: J F Kelleher, T V Carbone
• Journal: The American journal of pediatric hematology/oncology (Am J Pediatr Hematol Oncol) Vol. 13 Issue 3 Pg. 338-41 ( 1991) ISSN: 0192-8562 [Print] United States
• PMID: 1793161 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Cytarabine
• Etoposide
• Dexamethasone
• Thioguanine
• Daunorubicin

Topics

• Antineoplastic Combined Chemotherapy Protocols (therapeutic use)
• Bone Marrow Transplantation
• Chromosomes, Human, Pair 7
• Combined Modality Therapy
• Cytarabine (administration & dosage)
• Daunorubicin (administration & dosage)
• Dexamethasone (administration & dosage)
• Diagnosis, Differential
• Etoposide (administration & dosage)
• Humans
• Infant
• Leukemia, Myelomonocytic, Chronic (diagnosis)
• Male
• Monocytes (pathology)
• Monosomy
• Neurofibromatosis 1 (complications, genetics)
• Pedigree
• Preleukemia (complications, diagnosis, drug therapy, genetics, surgery)
• Syndrome
• Thioguanine (administration & dosage)