[Comparison of clinical pathological characteristics in ovarian preserving patients with stage IB1 cervical adenocarcinoma and squamous cell carcinoma].

OBJECTIVE: To analyze the risk and prognostic of patients with stage IB1 cervical adenocarcinoma. METHODS: The clinical data of 139 patients with stage IB1 cervical adenocarcinoma treated at Department of Gynecology and Obstetrics in Peking University First Hospital from August 1994 to April 2015 were retrospectively reviewed, which included 38 cases of cervical adenocarcinoma and 101 cases of cervical squamous cell carcinoma. A comparison was made between ovarian preserving group and bilateral oophorectomy group, in order to justify the risk and prognosis of ovarian preserving patients. RESULTS: The 5-year cumulative survival rate of stage IB1 cervical adenocarcinoma and squamous cell carcinoma were 89.1% and 92.9% respectively with significant difference (P=0.034). One ovarian metastasis case was observed among the 32 cervical adenocarcinoma patients of bilateral oophorectomy, while another ovarian metastasis case was observed among 54 cervical squamous cell carcinoma patients of bilateral oophorectomy. The ovarian metastasis rate was 3.1% (1/32) and 1.8 % (1/54) respectively with no statistical difference (P=0.574). The cumulative 5-year survival of 6 ovarian preserving patients with cervical adenocarcinoma was 80.1%, while that of 47 ovarian preserving patients with cervical squamous cell carcinoma was 94.6% (P=0.127). There was no statistical difference between the survival curve of the two groups. CONCLUSION: The prognosis of stage IB1 cervical adenocarcinomas was somewhat poorer than that of cervical squamous cell carcinoma. However it was still reasonable to perform ovarian preservation among young patients of stage IB1 cervical adenocarcinoma with no high risk factors.

A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.

Recessive congenital methemoglobinemia due to nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5R) deficiency is classified into 2 clinical types: type 1 (erythrocyte type) and type 2 (generalized type). We found a Chinese family with type 1 recessive congenital methemoglobinemia, the patients from which were diagnosed according to clinical symptoms and b5R enzyme activity in the blood cells. To learn the molecular basis of type 1 recessive congenital methemoglobinemia in this Chinese family, we isolated total RNA from the peripheral leukocytes of the propositus and b5R complementary DNA (cDNA) by reverse transcription- polymerase chain reaction (RT-PCR). The coding region of the b5R cDNA was analyzed by sequencing the cloned PCR products. The results showed that the propositus was homozygous for a G-->A transition at codon 203 in exon 7, changing a cysteine to a tyrosine (Cys203Tyr). To characterize the mutant enzyme, both glutathione S-transferase (GST)-fused wild-type b5R and GST-fused mutant Cys203Tyr b5R were expressed in Escherichia coli and affinity purified. The results showed that the catalytic activity of the enzyme was not much affected by this amino acid substitution, but the mutant enzyme exhibited decreased heat stability and increased susceptibility to trypsin. These properties of the mutant enzyme would account for the restricted b5R deficiency and mild clinical manifestations of these type 1 patients. The finding of this novel mutation makes codon 203 the only position within the b5R gene at which more than 1 mutation has been found.