Increased Radiation Sensitivity of Fibroblasts in Ataxia Telangiectasia With Acute Lymphocytic Leukemia FREE

S. KAISER ALI, MB, FRCP(C); W. PAUL BOWMAN, MD, FRCP(C); RHOMES J. A. AUR, MD

Am J Dis Child. 1981;135(12):1142-1143. doi:10.1001/archpedi.1981.02130360046017.

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ABSTRACT

ABSTRACT | REFERENCES

Ataxia telangiectasia (AT) is a rare autosomal recessive disease characterized by oculocutaneous telangiectasia, cerebellar ataxia, and recurrent sinobronchial infections. Approximately 10% of patients with this syndrome are at risk for development of malignant neoplasms, of which acute leukemias make up a third of reported cases.¹ Among other abnormalities, increased radiation sensitivity² and defective DNA repair of skin fibroblasts³ have been observed. To our knowledge, we describe the first patient with AT in whom acute lymphocytic leukemia (ALL) developed and whose skin fibroblasts in vitro were shown to have this defect.

Report of a Case.—In May 1978, a 14-year-old black girl had a prolonged flu-like illness that was treated symptomatically at home for one month. Twenty-four hours before admission, a sore throat, high temperature, and difficulty in breathing developed in the patient.

The patient was the product of a term pregnancy and was delivered at home to

REFERENCES

ABSTRACT | REFERENCES

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Taylor AMR, Harnden DG: Ataxia-telangiectasia: A human mutation with abnormal radiation sensitivity . Nature 1975;;258:427-429.

Paterson MC, Smith BP, Lohman PHM, et al: Defective excision repair of γ-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts . Nature 1976;;260:444-447.

Bowman WP, Melvin SL, Mauer AM: Cell markers in lymphomas and leukemias . Adv Intern Med 1980;;25:391-425.

Waldmann TA, McIntire KR: Serum α-fetoprotein levels in patients with ataxia-telangiectasia . Lancet 1972;;2:1112-1115.

Paterson MC, Anderson AK, Smith PJ: Enhanced radiosensitivity of cultured fibroblasts from ataxia-telangiectasia heterozygotes manifested by defective colony-forming ability and reduced DNA repair replication after γ-irradiation . Cancer Res 1979;;39:3725-3734.

Cunliffe PN, Mann JR, Cameron AH, et al: Radiosensitivity in ataxia-telangiectasia . Br J Radiol 1975;;48:374-376.

Morgan JL, Holcomb TM, Morrissey RW: Radiation reaction in ataxia telangiectasia . Am J Dis Child 1968;;116:557-558.

Aur RJA, Simone JV, Hustu HO, et al: Central nervous system therapy and combination therapy of childhood lymphocytic leukemia . Blood 1971;;37:272-281.

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