Ile/Ile homozygosity at codon 655 of HER2 in schwannoma.

PURPOSE: This study aimed to determine the genetic role of HER2, one of the epidermal growth factor receptor (EGFR) family, in schwannoma. The latter is a neogrowth of myelin-producing Schwann cells in peripheral nerves, inducible by N-nitrosoethylurea in animals with mutation in the neu gene (homologous gene of human HER2 protein). METHODS: In this study we obtained genomic DNA samples from tissue blocks of schwannoma, initially by xylene treatment and alcohol extraction, followed by use of the DNA extraction kit. Evaluation of this genetic polymorphism in our subjects was conducted by direct nucleotide sequencing or restriction enzyme analyses after PCR work. RESULTS: There were thirty extracted DNA samples from tissue blocks of schwannoma, and all were Ile/Ile homozygotes after genotype analyses. Two individuals received the leukocyte DNA extraction after peripheral blood sampling, both showing Ile/Ile homozygosity. This study gave the impression of an association of the HER2 polymorphism at codon 655 with tumorigenesis of schwannoma. Although the majority of the Taiwanese showed Ile/Ile homozygosity (about 83%), the present study revealed a 100% carriage rate among the tissue blocks from our subjects with schwannoma. CONCLUSION: Ile/Ile homozygosity at codon 655 of HER2 in schwannoma may imply some role in tumorigenesis of Ile655Val allele of HER2 in this nerve tumor.

Laparoscopic plication of partially twisted ovary with massive ovarian edema.

Massive ovarian edema (MOE) is a rare entity characterized by an accumulation of stromal edema fluid and occurs primarily in young women. The etiology is not clear, but is suspected to be the result of partial torsion of the ovary. After the establishment of a correct diagnosis, organ-sparing surgical treatment is the standard treatment. With the assistance of laparoscopy, we diagnosed and managed MOE in a 26-year-old woman who had a 4-year history of primary infertility and intermittent lower abdominal pain that had lasted for more than 6 months. With de-torsion, wedge resection, and plication of the ovary, the patient was successfully relieved of the abdominal pain and experienced no recurrence in the follow-up period. A later spontaneous pregnancy demonstrated the practicality of this conservative treatment.

Fatty Acid oxidation disorders in a chinese population in taiwan.

BACKGROUND: Fatty acid oxidation (FAO) disorders are a heterogeneous group of inborn errors in the transportation and oxidation of fatty acids. FAO disorders were thought to be very rare in the Chinese population. Newborn screening for FAO disorders beginning in 2002 in Taiwan may have increased the diagnosis of this group of diseases. MATERIALS AND METHODS: Till 2012, the National Taiwan University Hospital Newborn Screening Center screened more than 800,000 newborns for FAO disorders. Both patients diagnosed through screening and patients detected after clinical manifestations were included in this study. RESULTS: A total of 48 patients with FAO disorders were identified during the study period. The disorders included carnitine palmitoyltransferase I deficiency, carnitine acylcarnitine translocase deficiency, carnitine palmitoyltransferase II deficiency, very long-chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short-chain defects, and carnitine uptake defect. Thirty-nine patients were diagnosed through newborn screening. Five false-negative newborn screening cases were noted during this period, and four patients who were not screened were diagnosed based on clinical manifestations. The ages of all patients ranged from 6 months to 22.9 years (mean age 6.6 years). Except for one case of postmortem diagnosis, there were no other mortalities. CONCLUSIONS: The combined incidence of FAO disorders estimated by newborn screening in the Chinese population in Taiwan is 1 in 20,271 live births. Newborn screening also increases the awareness of FAO disorders and triggers clinical diagnoses of these diseases.

The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.

BACKGROUND: As an X-linked genetic disorder, Fabry disease was first thought to affect males only, and females were generally considered to be asymptomatic carriers. However, recent research suggests that female carriers of Fabry disease may still develop vital organ damage causing severe morbidity and mortality. In the previous newborn screening, from 299,007 newborns, we identified a total of 20 different Fabry mutations and 121 newborns with Fabry mutations. However, we found that most female carriers are not detected by enzyme assays. METHODS: A streamlined method for high resolution melting (HRM) analysis was designed to screen for GLA gene mutations using a same PCR and melting program. Primer sets were designed to cover the 7 exons and the Chinese common intronic mutation, IVS4+919G>A of GLA gene. RESULTS: The HRM analysis was successful in identifying heterozygous and hemizygous patients with the 20 surveyed mutations. We were also successful in using this method to test dry blood spots of newborns afflicted with Fabry mutations without having to determine DNA concentration before PCR amplification. CONCLUSION: The results of this study show that HRM could be a reliable and sensitive method for use in the rapid screening of females for GLA mutations.

Recurrent breast cancer presents as a single solid ovarian mass and ascites.

OBJECTIVE: Ovarian malignancy is highly suspected when patients present with an ovarian cystic mass lesion accompanied with ascites. However, aside from the primary origin, a metastatic lesion should be considered, since the ovary is frequently metastasized from cancers of other organs, such as the genital tract, gastrointestinal tract, and breast. Herein, we report the case of a patient with a left adnexal mass and ascites to emphasize consideration of metastatic ovarian tumors from non-gynecologic organs. CASE REPORT: A 47-year-old woman with a history of right breast infiltrating lobular carcinoma, T3N0M0, grade 3, was treated with modified radical mastectomy and axillary lymph-node dissection in July 2001. Tumor recurrence was noted in December 2003. Therefore, she underwent palliative radiotherapy and various kinds of chemotherapy. In March 2006, she experienced poor appetite and abdominal fullness, and was found to have a 12-cm adnexal mass accompanied with ascites. Ovarian cancer was suspected, and exploratory laparotomy was performed. However, metastatic carcinoma of the ovary of breast origin was finally diagnosed. CONCLUSION: In cases of pelvic tumors in patients who have a history of other primary cancers, metastasis should be suspected initially. Although the prognoses of these patients seem to be worse, intensive cytoreductive surgery would improve quality of life and offer a chance of better survival in highly selected patients.

Idiopathic granulomatous mastitis: a case successfully treated with a minimum dose of a steroid.

Idiopathic granulomatous mastitis (IGM) is a benign, chronic non-caseating breast disease, often mistaken for breast cancer. It usually affects women of child-bearing age. The treatment for IGM is inconclusive. In the past, surgical intervention was suggested due to the possibility of malignancy. However, in recent reports, corticosteroid therapy has been used with a good response. We present a case of a female with IGM who was treated successfully with 0.8 mg/kg/day prednisolone.