title: A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma.
abstract: We report on a 17-year-old boy with a unique lymphocyte mitomycin-C (MMC)-sensitive chromosomal breakage syndrome. He had failure to thrive, and has microcephaly, slight facial dysmorphism, and constitutional short stature but no other phenotypic or hematological manifestations of Fanconi anemia (FA). He developed B-cell lymphoma of the neck, which was treated with standard doses of alkylating agents. Major side effects related to chemotherapy did not occur. Normal erythrocyte corpuscular volume, MMC-insensitive fibroblasts, and the occurrence of lymphoma rather than AML sets this patient apart from typical FA. The combination of constitutional dwarfism, microcephaly, MMC-sensitive lymphocytes, and susceptibility to lymphoma represents an unusual constellation of symptoms among genetic disorders.
authors.affiliation: Division of Pediatric Hematology and Oncology, Children's Hospital of Michigan, Detroit, MI, USA. sambakh@hotmail.com
authors.forename: Sameer
authors.initials: S
authors.lastname: Bakhshi
authors.forename: Hans
authors.initials: H
authors.lastname: Joenje
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
authors.forename: Anneke
authors.initials: A
authors.lastname: Oostra
authors.forename: Anwar N
authors.initials: AN
authors.lastname: Mohamed
authors.forename: David
authors.initials: D
authors.lastname: Madgy
authors.forename: Yaddanapudi
authors.initials: Y
authors.lastname: Ravindranath
authors.forename: Esteban
authors.initials: E
authors.lastname: Abella
mesh_terms: D000293:Adolescent; D000970:Antineoplastic Agents / Q000627:therapeutic use; D002869:Chromosome Aberrations; D004198:Disease Susceptibility; D005145:Face / Q000002:abnormalities*; D006258:Head and Neck Neoplasms / Q000188:drug therapy* / Q000473:pathology; D006801:Humans; D008214:Lymphocytes / Q000187:drug effects*; D016393:Lymphoma, B-Cell / Q000188:drug therapy* / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000209:etiology*; D016685:Mitomycin / Q000494:pharmacology*
chemical_list: D000970:Antineoplastic Agents; D016685:Mitomycin