A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma.
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.
Bakhshi
Sameer
S
Division of Pediatric Hematology and Oncology, Children's Hospital of Michigan, Detroit, MI, USA. sambakh@hotmail.com
Joenje
Hans
H
Schindler
Detlev
D
Oostra
Anneke
A
Mohamed
Anwar N
AN
Madgy
David
D
Ravindranath
Yaddanapudi
Y
Abella
Esteban
E
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*
D000970:Antineoplastic Agents; D016685:Mitomycin