Adjuvant therapy in invasive cervical cancer patients with histopathologic high risk factors following pretreatment laparotomy / 대한산부인과학회잡지

OBJECTIVE: To evaluate the efficacy of postoperative adjuvant therapy was evaluated in preventing treatment failure occurring after primary treatment with surgery in early invasive cervical cancer patients associated with histopathologic high risk factors such as lymph node metastasis, either macroscopic or microscopic, parametrial extension, lymphovascular permeation and depth of invasion >or=10 mm. METHODS: Postoperative adjuvant concurrent chemoradiotherapy (PCCRT), postoperative adjuvant chemotherapy (PCT) or postoperative adjuvant radiotherapy (PRT) alone was administered to the 80 early invasive cervical cancers with at least one of the high risk factors. Each of 61 patients was received three to six cycles of chemotherapy at about 3-weeks intervals. For squamous cell carcinoma, cisplatin 100 mg/m2 IV, or paraplatin 350 mg/m2 IV was infused followed by 5-FU 1000 mg/m2 IV infusion for 5 days. Twenty three patients were treated with PCCRT, 38 patients were treated with PCT alone. And 19 patients received PRT. RESULTS: The five-year survival rate of patients with macroscopic metastasis was 66.7% and 35.7%, in PCCRT and PRT, respectively. With microscopic lymph node metastasis, the 5-year survival rate was 83.3%, 60.0%, and 70.1% in PCCRT, PCT and PRT, respectively. With parametrial extension, the 5-year survival rate was 58.1% in PCCRT. The five-year survival rate of patients with lymphovascular permeation was 100%, 90.9% and 66.7% in PCCRT, PCT and PRT, respectively. With depth of invasion >or=10 mm, the 5-year survival rate was 100% and 91.3%, in PCCRT and PCT, respectively. CONCLUSION: PCCRT appears to be superior to PRT or PCT alone in early invasive cervical cancer patients with histopathologic high risk factors.

45,X / 47,XYY Mosaic Turner Syndrome / 대한산부인과학회잡지

45,X/47,XYY mosaicism is a rare sex chromosomal disorder with clinical information limited to 25 cases in the literature. We report an unusual mosaic Turner syndrome case in a 35-year old Korean woman with a phenotypic female, primary amenorrhea, short stature, immature secondary sexual characteristics. Cytogenetic analysis including G- and Q-banding revealed 45,X/47,XYY mosaicism, and SRY gene was demonstrated by polymerase chain reaction(PCR). Prophylactic bilateral gonadectomy was performed because the presence of Y-chromosomal sequences in Turner stigmata may predispose this patient to gonadoblastoma formation.

KAL Gene and GnRH Receptor Gene Analysis in Patients with Kallmann's Syndrome / 대한내분비학회지

BACKGROUND: Kallmann's syndrome is related to the defect in migration of olfactory neuron and GnRH neuron from the olfactory placode to the brain and it represents hypogonadism with anosmia or hyposmia. There are 3 modes of transmission in Kallmann's syndrome: X-linked, autosomal recessive and autosomal dominant. X-linked form is the most common. KAL gene is responsible for the X-linked form of Kallmann's syndrome and it had been localized to Xp22.3. The intron-exon organization had been determined and KAL gene mutation had also been identified in familial Kallmann's syndrome and it is very rare and shows heterogeneity. Furthermore, in the sporadic cases, KAL gene mutation is more rare. METHODS: In order to investigate the KAL gene mutation and the regulation of the gene expression in Kallmann's syndrome, we examined genomic DNA of 35 patients with sporadic Kallmann's syndrome. In the exon 3, 4, 5, 6, 7, 8, 9, 10, 11, 12 of KAL gene and 1, 2, 3 of GnRH receptor gene, the mutations were analyzed by PCR-based DNA sequencing. RESULTS: In our study, the mutation of KAL gene and GnRH receptor gene was not identified in the studied exons that were known as preferable sites of the mutation. CONCLUSION: The mutation of KAL gene and GnRH receptor gene is rare, and it might be needed to investigate mutations in other genes or in other part of the KAL gene such as intron or promoter region.