Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome

We describe a 10-month-old boy with 22q13 deletion syndrome. Chromosomal analysis showed a partial duplication of 22p11.2-pter and a terminal deletion of 22q13.31-qter. Maternal chromosomal analysis showed a pericentric inversion of chromosome 22, with breakpoints at p11.2 and q13.31 [inv(22)(p11.2q13.31)]. The deleted chromosome resulted from a recombinant chromosome inherited from his mother. This is a rare case of 22q13 deletion syndrome associated with parental pericentric inversion of chromosome 22.     

Genetically identified complete hydatidiform mole coexisting with a live twin fetus: comparison with conventional diagnosis

Twin pregnancy consisting of a complete hydatidiform mole (CHM) along with a live co-existing fetus is a rare entity and difficult to diagnose. A 37-year-old Japanese woman demonstrated a living fetus, a placenta and a multicystic mass within one gestational sac on ultrasound at 10 weeks. Termination of the pregnancy was performed, and the specimen was classified as partial mole by macro- and microscopic findings. The karyotype of the molar tissue was 46XX. DNA polymorphism analysis demonstrated that fetal DNA showed bi-parental origin while molar DNA showed paternal origin only. Thus, this case was erroneously classified by ultrasonography, macroscopic and pathologic findings, then correctly diagnosed as a twin pregnancy with a CHM and co-existing normal twin fetus by DNA polymorphism analysis. Immunohistochemistry of p57(KIP2), the paternally imprinted and maternally expressed gene, supported the genetic diagnosis. This case suggested that conventional diagnostic methods were inadequate for accurate diagnosis of CHM with a co-existing fetus. DNA polymorphism analysis should be requested for the diagnosis of hydatidiform mole, especially in cases where it is difficult to discriminate between partial hydatidiform mole and CHM with a co-existing fetus.     

Juvenile Hepatocellular Carcinoma in a Healthy Liver

Primary hepatocellular carcinoma (HCC) in patients ＜30 years old is extremely rare. In younger patients, HCC develops against a background of persistent hepatitis B virus infection. We herein report a 23-year-old woman with HCC with all-negative hepatitis virus markers developing in an apparently healthy liver. Imaging studies showed a 50-mm hypervascular mass in segment 4 of the left liver lobe, compatible with HCC. The patient underwent surgical resection. A histological examination showed the presence of poorly differentiated HCC. The patient was diagnosed with HCC developing in a healthy liver. This is an extremely rare case of non-B non-C HCC.     

Definitive radiotherapy for primary vaginal cancer: correlation between treatment patterns and recurrence rate

The purpose of this study was to determine the outcomes and optimal practice patterns of definitive radiotherapy for primary vaginal cancer. Between 1993 and 2012, 49 patients were treated with definitive radiotherapy for primary vaginal cancer in three hospitals. Of these, 15 patients (31%) had clinically positive regional lymph node metastasis. A total of 34 patients (70%) received external beam radiotherapy with high-dose-rate brachytherapy (interstitial or intracavitary), and 8 (16%) (with small superficial Stage I tumors) were treated with local radiotherapy. The median follow-up was 33 months (range: 1–169 months). The 3-year overall survival (OS), disease-free survival (DFS), and loco-regional control (LRC) rates were 83%, 59% and 71%, respectively. In multivariate analysis, the histological type (P = 0.044) was significant risk factors for LRC. In Federation of Gynecology and Obstetrics (FIGO) Stage I cases, 3 of 8 patients (38%) who did not undergo prophylactic lymph node irradiation had lymph node recurrence, compared with 2 of 12 patients (17%) who underwent prophylactic pelvic irradiation. For Stage III–IV tumors, the local recurrence rate was 50% and the lymph node recurrence rate was 40%. Patients with FIGO Stage I/II or clinical Stage N1 had a higher recurrence rate with treatment using a single modality compared with the recurrence rate using combined modalities. In conclusion, our treatment outcomes for vaginal cancer were acceptable, but external beam radiotherapy with brachytherapy (interstitial or intracavitary) was needed regardless of FIGO stage. Improvement of treatment outcomes in cases of FIGO Stage III or IV remains a significant challenge.     

Duloxetine-induced Syndrome of Inappropriate Secretion of Antidiuretic Hormone in a Super-elderly Patient

Duloxetine is widely used for pain control and depressive syndromes. One of its potential side effects is syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Duloxetine-induced SIADH causes hyponatremia, which leads to a variety of symptoms and has previously been reported in the elderly. In the present case, we experienced a case of the rapid onset of SIADH in a super-elderly woman receiving low-dose duloxetine. Elderly patients tend to have lower duloxetine doses and an earlier onset than non-elderly patients. When hyponatremia occurs after duloxetine administration, duloxetine-induced SIADH should be considered, especially in high-risk elderly patients, regardless of the duloxetine dose or duration of treatment.     

Prognostic significance of Bcl-xL in human hepatocellular carcinoma

BACKGROUND: Proliferation and apoptosis of liver cancer cells are closely related phenomena. We investigated the correlation between overexpression of Bcl-xL, an anti-apoptosis-related protein of the Bcl-2 family, and the clinical course of hepatocellular carcinoma (HCC). METHODS: Specimens from 7 HCC patients were used for Western blotting and immunoelectron microscopy tests. Samples from 33 HCC patients who had undergone hepatectomies were used for immunohistochemical staining. The degrees of expression of Bcl-xL and Ki-67, as an index of HCC mitosis severity, were each classified into 2 groups. RESULTS: With the use of Western blot analysis, enhanced immunoreactivity of Bcl-xL was found in cancerous specimens. Bcl-xL overexpression was found in cancer specimens in 21 of 33 patients (63.6%). The overall survival (P=.019) and disease-free survival (P=.030) rates of the group overexpressing Bcl-xL were definitely poorer. The Ki-67 higher labeling index LI > 10) group had a poorer survival rate (P=.016). There were significant correlations between Bcl-xL and overall survival and disease-free survival. Multivariate analyses revealed that Bcl-xL, tumor size, histologic portal invasion, and histologic metastatic foci were independent prognostic factors for overall survival and disease-free survival. CONCLUSIONS: These results showed Bcl-xL in HCC specimens, suggesting that Bcl-xL was a significant prognostic factor for disease progression in human HCC.     

Maximum Standard Uptake Value at the Biopsy Site during F-Fluorodeoxyglucose Positron Emission Tomography Does Not Predict the Proliferation Potential of Tumor Cells in Extranodal Natural Killer/T Cell Lymphoma, Nasal Type

No abstract available.