Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly.

A high frequency of spontaneous chromosomal breakage, endomitosis, endoreduplication and hypersensitivity toward both the alkylating agent Trenimon and the radiomimetric drug bleomycin was observed in phytohemagglutinin-stimulated peripheral lymphocytes from a girl with craniosynostosis, microcephaly, ptosis, bird-like facies, and moderate mental retardation. We also observed abnormal chromosomal spiralization and some aspects of abnormal cellular division. Several fruitless attempts were made to establish a cell line. The parents were consanguineous, supporting the existence of a new, rare, autosomal, recessive condition in man. The mutation might involve a gene involved in DNA repair and/or regulation of the mitotic cycle.

Perioperative chemotherapy in the treatment of carcinoma of the uterine cervix.

Two hundred forty-eight women from 1969-71 who underwent surgery for carcinoma of the cervix and were treated with triaziquone (0.2 mg i.v. daily) from day 2-5 after the operation, are compared to a group of 301 conventionally treated patients examined over the 3 following years. Survival rates after 5 years did not differ significantly between the 2 groups of patients, considered either globally or divided according to their clinical or surgical-pathological stage. The incidence of complications in the "treated" patients was not significantly higher, particularly considering local and general post-operative recovery. A prospective randomized study using drugs with a high cytotoxic activity in patients with tumors limited to the cervix and unfavorable prognostic factors, could in the future help evaluate the possibility of using surgical adjuvant chemotherapy in carcinoma of the cervix.