We report a 26-yr-old female patient with bilateral breast cancer who was clinically diagnosed with Li-Fraumeni like syndrome (LFL) and subsequently found to have a germline mutation of the TP53 gene. The patient was initially diagnosed with right breast cancer at age 24 yr and then with left breast cancer at age 25 yr. Surgery and radiotherapy were performed accordingly. The patient had a family history of various types of early onset cancers and was referred to a genetic counseling clinic. She was clinically diagnosed with LFL. Genetic analysis of the TP53 tumor suppressor gene was performed with the patient's consent. Direct sequencing of TP53 gene exons 5, 6, 8, 9, and 11 revealed a ermline missense mutation, resulting in an amino acid change from an arginine to a histidine (g.13203G>A, p.R175H). Considering the family history, individualized cancer surveillance was performed including a gastroscopy and a brain MRI. Even though the patient had not shown any neurological symptoms, a huge mass on the temporal lobe was incidentally found and the patient received surgery and radiotherapy. Although the residual mass required further treatment, the patient decided on supportive care alone and was discharged. We report a case of LFL, with a germline TP53 mutation, which was confirmed by gene sequencing in Korea. This case shows how genetic predisposition screening and counseling in patients, suspected of having a familial cancer syndrome, can influence the course of the patient.
Adult ; Amino Acid Substitution ; Brain Neoplasms/radiotherapy/surgery ; Breast Neoplasms/diagnosis/radiotherapy/surgery ; Female ; *Genetic Counseling ; Genetic Predisposition to Disease ; *Germ-Line Mutation ; Humans ; Li-Fraumeni Syndrome/*diagnosis/genetics/therapy ; Mutation, Missense ; Pedigree ; Tumor Suppressor Protein p53/*genetics

OBJECTIVE: Amniocentesis for the diagnosis of prenatal genetic abnormalities is now the standard care for women who are at special risk. because the application of population-based maternal serum screening to prenatal diagnosis is now widespread, we can estimate the trend change of amniocentesis indications. METHODS: Four hundred twenty eight women who were attending the antenaltal clinic of Hanyang University Hospital had a amniocentesis between January 1992 and June 1997. The result were analyzed in reference to indication of amniocentesis, gestational age, pregnancy outcome and karyotype. RESULT: The major indications were abnormal maternal serum marker(53.3%), advanced maternal age(23.8%), previous fetal chromosomal anomaly(7.9%) and the most common age distribution at amniocentesis was 25-29 years(37.9%). The pregnancy outcome was full-term delivery(84.2%), preterm delivery(13.7%), spontaneous abortion(1.4%) and termination of pregnancy(0.7%). Among the 33 cases(7.7%) of abnormal karyotype, structural aberration was 21 cases(4.9%) and numerical aberration was 12 cases(2.8%). Among the numerical aberration, six cases of trisomy 21, five cases of Klinefelter syndrome, and one case of Turner syndrome were found. Among the structural aberration, insertion was most common(nine cases), and seven cases of inversion, four cases of translocation and one case of deletion were found. CONCLUSION: This is a report of genetic amniocentesis, with analysis of the indication, gestational age, karyotype results and complication.
Abnormal Karyotype ; Age Distribution ; Amniocentesis* ; Diagnosis ; Down Syndrome ; Female ; Gestational Age ; Humans ; Karyotype ; Klinefelter Syndrome ; Mass Screening ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis* ; Turner Syndrome

OBJECTIVE: Amniocentesis for the diagnosis of prenatal genetic abnormalities is now the standard care for women who are at special risk. because the application of population-based maternal serum screening to prenatal diagnosis is now widespread, we can estimate the trend change of amniocentesis indications. METHODS: Four hundred twenty eight women who were attending the antenaltal clinic of Hanyang University Hospital had a amniocentesis between January 1992 and June 1997. The result were analyzed in reference to indication of amniocentesis, gestational age, pregnancy outcome and karyotype. RESULT: The major indications were abnormal maternal serum marker(53.3%), advanced maternal age(23.8%), previous fetal chromosomal anomaly(7.9%) and the most common age distribution at amniocentesis was 25-29 years(37.9%). The pregnancy outcome was full-term delivery(84.2%), preterm delivery(13.7%), spontaneous abortion(1.4%) and termination of pregnancy(0.7%). Among the 33 cases(7.7%) of abnormal karyotype, structural aberration was 21 cases(4.9%) and numerical aberration was 12 cases(2.8%). Among the numerical aberration, six cases of trisomy 21, five cases of Klinefelter syndrome, and one case of Turner syndrome were found. Among the structural aberration, insertion was most common(nine cases), and seven cases of inversion, four cases of translocation and one case of deletion were found. CONCLUSION: This is a report of genetic amniocentesis, with analysis of the indication, gestational age, karyotype results and complication.
Abnormal Karyotype ; Age Distribution ; Amniocentesis* ; Diagnosis ; Down Syndrome ; Female ; Gestational Age ; Humans ; Karyotype ; Klinefelter Syndrome ; Mass Screening ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis* ; Turner Syndrome

OBJECTIVES: This retrospective study was conducted to analyze the hypothesis that with neoadjuvant chemotherapy of vinblastine, bleomycin, and cisplatin followed by radical hysterectomy or radiation therapy and concurrent chemoradiation with cisplatin based regimen would improve survival in patients with barrel-shaped or bulky-endophytic (Diameter > 4cm) cervical carcinomas than those of radiation alone or combined radiation and surgery. STUDY DESIGN: Eighty-eight patients with barrel-shaped or bulky-endophytic cervical carcinomas, treated at the Hanyang University Hospital from 1983 to 1997, were the subjects of this investigation. Fifty-six of these patients were treated by neoadjuvant chemotherapy followed by radical hysterectomy with bilateral pelvic lymphadenectomy ( Stage I b2, 8; IIa, 15; IIb, 20; III- IV, 13), twelve patients were treated by neoadjuvant chemotherapy followed by radiation therapy ( Stage Ilb, 4; IIJ-IV, 8), and twenty patients were treated by concurrent chemo-radiotherapy ( Stage IIb, 2; III-IV, 18). RESULTS: The incidence of parametrial extension and pelvic lymphnode metastases was higher in patients with barrel-shaped or bulky-endophytic cervical carcinomas than non-barrel-shaped cervix (p .025: .001). 5-years disease free survival rate was determined for patients treated by neoadjuvant chemotherapy followed by radical hysterectomy with bilateral pelvic lymphadenectomy was 73.3 %. For patients treated by neoadjuvant chemotherapy followed by radiation therapy it was 45.7%. For patients treated by concurrent chemo-radiotherapy it was 46.1%. CONCLUSION: These data support an improvement in survival of patients with barrel-shaped or bulky-endophytic cervical carcinomas treated by neoadjuvant chemotherapy followed by radical hysterectomy or radiation therapy and concurrent chemo-radiotherapy.
Bleomycin ; Cervix Uteri* ; Cisplatin ; Disease-Free Survival ; Drug Therapy* ; Female ; Humans ; Hysterectomy ; Incidence ; Lymph Node Excision ; Neoplasm Metastasis ; Retrospective Studies ; Vinblastine