Search

The patient presented in this case report was a 45-year-old female, with a Stage IIIA ovarian angiosarcoma combined with mature teratoma, that underwent debulking surgery and achieved complete remission for 11 months after six cycles of MAID chemotherapy (mesna, adriamycin/doxorubicin, ifosfamide, and dacarbazine). Thereafter, she had tumor recurrence with peritoneal seeding and massive pleural effusion; hence she received chemotherapy again. Although she had been undergoing a series of chemotherapies, the tumor continued to progress. Hence, she refused further chemotherapy since September 2012. Unfortunately, she passed away in January 2013 due to severe dyspnea with wide spread tumor progression. She had the longestsurvival period (31 months) and complete remission period than the other advanced primary ovarian angiosarcoma cases ever reported in the literature. [ABSTRACT FROM AUTHOR]

In the presence of water, thermal simulation experiments on the reaction between CH4 and MgSO4 were conducted at high temperatures and high pressures. Chemical and carbon isotopic variations were characterized with advanced analytical methods, including microcoulometry, gas chromatography, Fourier transform infrared spectroscopy, X-ray diffraction, and gas chromatograph combustion isotope ratio mass spectrometry. It was found that CH4 can react with MgSO4 to produce H2S, CO2, and MgO as the main products of thermochemical sulfate reduction. The carbon kinetic isotope fractionation was tentatively investigated using quantum chemistry and the kinetic isotope effect was calculated. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article on role of three-dimensional transvaginal ultrasound to the delineation of myometrial invasion in a patient suffering from endometrial cancer and uterine leiomyoma.

Loss of heterozygosity (LOH) allows the expression of recessive mutation in tumor suppressor genes (TSG). Therefore, on the basis of Knudson's 'two-hit' hypothesis for TSG inactivation, the detection of a high LOH frequency in a chromosomal region is considered critical for TSG localization. One of these LOH regions in breast cancer is 16q22.1, which has been suggested to reflect the involvement of E-cadherin (E-cad), a cell-cell adhesion molecule. To confirm the tumorigenic role of E-cad, 81 sporadic invasive ductal carcinomas (IDCs) of the breast were tested for the 'two hits' required to inactivate this gene. A high frequency (37.3%) of LOH was detected in 67 informative tumors, but no mutation was found. To examine the possibility that transcriptional mechanisms serve as the second hit in tumors with LOH, specific pathways, including genetic variant and hypermethylation at the promoter region and abnormal expression of positive (WT1) and negative (Snail) transcription factors, were identified. Of these, promoter hypermethylation and increased expression of Snail were found to be common (>35%), and to be strongly associated with reduced/negative E-cad expression (P<0.05). However, unexpectedly, a significantly negative association was found between the existence of LOH and promoter hypermethylation (P<0.05), which contradicts the 'two-hit' model. Instead, since they coexisted in a high frequency of tumors, hypermethylation may work in concert with increased Snail to inactivate E-cad expression. Given that E-cad is involved in diverse mechanisms, loss of which is beneficial for tumors to invade but may also trigger apoptosis, this study suggests that maintaining a reversible mechanism, either by controlling the gene at the transcriptional level or by retaining an intact allele subsequent to LOH, might be important for E-cad in IDC and may also be common in TSGs possessing diverse functions. These findings provide clues to explain why certain TSGs identified by LOH cannot fulfil the two-hit hypothesis.

Breast cancer is considered to display a high degree of intratumor heterogeneity, without any obvious morphological and pathological steps to define sequential evolution, and its progression may vary among individual tumors. In an attempt to elucidate these etiological and phenotypic complexities, the present study, based on the fundamental concept that genomic instability is the engine of both tumor progression and tumor heterogeneity, was conducted to test the hypothesis that breast cancer pathogenesis is driven by double-strand break (DSB)-initiated chromosome instability (CIN). The rationale underlying this hypothesis is derived from the clues provided by family breast cancer syndromes, in which susceptibility genes, including p53, ATM, BRCA1 and BRCA2, are involved within the common functional pathway of DSB-related checkpoint/ repair. Because genomic deletion caused by DSB is reflected in the genetic mechanism of loss of heterozygosity (LOH), this genome-wide LOH study was conducted, using 100 tumors and 400 microsatellite markers. To minimize the effect of heterogeneity within tumors, the experimental technique of laser capture microdissection was used to ensure that genetic and phenotypic examinations were based on the same tumor cells. Support for our hypothesis comes from the observations that: (a) the extent of DSB-initiated CIN in tumors significantly increased as tumors progressed to poorer grades or later stages; (b) in the sequential steps toward CIN, the loci of p53 and ATM, the key checkpoint genes against DSB, were lost at the earliest stage; and (c) many loci identified to be important in breast tumorigenesis were the genomic sites possibly harboring the genes involved in DSB-related checkpoint/repair (including RAD51, RAD52, and BRCA1) or CIN (including FA-A, FA-D, and WRN), and a higher number of these loci showing LOH was significantly associated with increased level of DSB-initiated CIN (P < 0.0001). Breast cancers are thus considered to be sequentially progressive with CIN. However, CIN might also cause genetic heterogeneity, which was revealed by the findings that LOH at some markers was observed only in the component of ductal carcinoma in situ but not in the invasive component of the same tumors. In addition, some markers were found to preferentially lose at specific tumor grades, implying their contribution to genetic heterogeneity during tumor development. Therefore, this study suggests that breast cancer progression is clonal with regard to CIN, but different breast cancers would present distinct molecular profiles resulting from genetic heterogeneity caused by CIN.

Cells with abnormal TP53 lose cell cycle checkpoints, resulting in genomic instability and neoplastic transformation. However, the evidence linking the tumor-specific targets of genomic alteration to an abnormal TP53 is limited. The present study tested the hypothesis that TP53 abnormalities are correlated with an increased frequency of deletion of breast cancer susceptibility loci (17q and 13q) in breast carcinomas. Tumors from 90 patients were examined for TP53 abnormality and loss of heterozygosity (LOH) at 11 loci on 17q (17q11.2-21) and 13q (13q12-14), including the loci for BRCA1 and BRCA2. A higher frequency of LOH was consistently found at 17q or 13q loci in tumors with an abnormal TP53. The increased LOH in relation to TP53 abnormality was statistically significant at the BRCA1, D17S588, and D13S267 loci (P < 0.05) but not at the locus for BRCA2 (P = 0.64). These observations imply a possible link between an abnormal TP53 and specific genomic deletions of breast cancer susceptibility loci, which may provide clues to the role of TP53 during breast tumorigenesis.

An abdominal mass was found in an apparently healthy 66-year-old man during he was undergoing a routine physical check-up. Intravenous pyelography showed a huge suprarenal cyst displacing the left kidney. Both kidneys had normal renal function. The tumor was removed transperitoneally. It contained 1600 ml hemorrhagic fluid and had small golden nodules on the inner cystic surface. Microscopically, adrenal cortical tissue was present in groups or scattered along the cystic wall, which was compatible with the diagnosis of pseudocyst. No lining epithelium was present. The differential diagnosis, pathogenesis, management, and the general features of adrenal pseudocysts were discussed.

Background: Granular cell tumor (GCT) is a rare tumor of the soft tissues; the most common site of occurrence is the tongue. The diagnosis of GCT is fairly straightforward on both fine needle aspiration cytology and histopathology. Occasionally the tumor's presence in an unusual site may create confusion with carcinoma, especially when it occurs in the breast, where carcinoma is more common., Case: A case of GCT occurred in the breast of a male with simultaneous detection of the same type of tumor in the soft tissues of the upper arm and back. The diagnosis was made on a fine needle aspirate of the breast mass, which demonstrated characteristic diastase-resistant, periodic acid-Schiff-positive intracytoplasmic granules., Conclusion: The breast, especially in males, is an unusual location for GCT. Clinicians and pathologists must be alert, therefore, to its existence and its inclusion in the differential diagnosis of tumors of the breast.

The tumor-suppressor gene p53 acts as "the guardian of the genome", sensing DNA damage and initiating protective responses. To examine the hypothesis that p53 abnormality leads to increased genomic alterations in primary tumor cells, our study utilized 51 primary tumors of cervical carcinoma and 10 microsatellite markers. These markers were mapped to the short arms of chromosomes 3 and 5, covering the regions 3p13-25 and 5p15.1-15.3. Genomic deletion on 3p and 5p was correlated with genetic or epigenetic p53 inactivation pathways, including p53 mutation, genetic deletion of p53 and cervical infection with human papillomavirus. The proportion of abnormal p53 was found to be significantly higher in the cases exhibiting loss of heterozygosity (LOH) on 5p (p < 0.001), supporting the hypothesis of the presence of a p53-dependent pathway to cervical tumorigenesis. In contrast, however, LOH on 3p was found to be independent of p53 inactivation. A common deletion region, 3p22-24, was identified in 44% of informative cases, and genomic loss at this specific region was correlated with early tumorigenic onset and poor grade of tumor differentiation. Diversity within the patterns of genomic alteration in the same form of cancer suggests different sets of risk/tumorigenic profiles, molecular pathogenesis, as well as prognosis and outcome.

We report here the observations of positive maternal serum screening tests for Down syndrome, cytogenetic and molecular analysis, and dysmorphic fetal features in a pregnancy with 18q-syndrome. A 33-year-old primigravida was referred for genetic counselling because of multiple-marker screen positive results. At 14 weeks' gestation, the woman had a Down syndrome risk of 1:107 calculated from a maternal serum alpha-fetoprotein (MSAFP) level of 1.49 multiples of the median (MOM), a total human chorionic gonadotrophin (hCG) level of 2.42 MOM, and a serum unconjugated oestriol (uE3) level of 0.55 MOM. At 17 weeks' gestation, a repeat test showed a Down syndrome risk of 1:10 calculated from an MSAFP level of 1.09 MOM and a free beta-hCG level of 12.3 MOM. Genetic amniocentesis revealed a de novo deletion of 18q22.2-qter. Intrauterine fetal death occurred at 21 weeks' gestation. At birth, the fetus manifested clinical findings of the 18q-syndrome. The phenotype was correlated with the extent of the deletion. Linkage analysis of the family confirmed the extent and paternal origin of the deletion.

Among 114 breast cancers in Taiwan, the prevalence of p53 mutation (22.8%) and p53 accumulation (38.3%) was similar to that in high-incidence areas. However, novel patterns of p53 abnormalities, including unique sites or types of mutation (i.e. an excessive proportion of G:C to A:T transition at CpG site), and accumulation of wild-type p53 either within nuclear or cytoplasmic compartments were noted. These may have relevance to breast cancer in Taiwan, a low-incidence area.