ABSTRACT
INTRODUCTION: We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX). METHODS/RESULTS: Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIST-DMR on the X chromosome and genome-wide microsatellite analysis for 96 autosomal loci and 30 X chromosomal loci revealed that the 46,XX cell lineage was accompanied by maternal uniparental isodisomy for all chromosomes (upid(AC)mat), whereas the 45,X cell lineage was associated with biparentally derived autosomes and a maternally derived X chromosome. The frequency of the 46,XX upid(AC)mat cells was calculated as 84% in leukocytes, 56% in salivary cells, and 18% in buccal epithelial cells. DISCUSSION: The results imply that a parthenogenetic activation took place around the time of fertilisation of a sperm missing a sex chromosome, resulting in the generation of the upid(AC)mat 46,XX cell lineage by endoreplication of one blastomere containing a female pronucleus and the 45,X cell lineage by union of male and female pronuclei. It is likely that the extent of overall (epi)genetic aberrations exceeded the threshold level for the development of SRS phenotype, but not for the occurrence of other imprinting disorders or recessive Mendelian disorders.
Subject(s)
Chromosomes, Human, X/genetics , Sex Chromosome Aberrations , Uniparental Disomy/genetics , Adult , Chimerism , Female , Humans , Karyotyping , Mosaicism , Phenotype , Silver-Russell Syndrome/genetics , Turner Syndrome/geneticsSubject(s)
Anti-Inflammatory Agents/adverse effects , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Cisplatin/adverse effects , Intestinal Perforation/chemically induced , Paclitaxel/adverse effects , Prednisolone/adverse effects , Adenocarcinoma/drug therapy , Anti-Inflammatory Agents/therapeutic use , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Arthritis, Rheumatoid/drug therapy , Cisplatin/administration & dosage , Cisplatin/therapeutic use , Female , Humans , Middle Aged , Paclitaxel/administration & dosage , Paclitaxel/therapeutic use , Prednisolone/therapeutic use , Taxoids , Time Factors , Uterine Neoplasms/drug therapySubject(s)
Antineoplastic Combined Chemotherapy Protocols/adverse effects , Carboplatin/adverse effects , Clostridioides difficile , Diarrhea/chemically induced , Paclitaxel/adverse effects , Diarrhea/microbiology , Endometrial Neoplasms/drug therapy , Enterocolitis, Pseudomembranous/chemically induced , Female , Humans , Middle AgedSubject(s)
Parenteral Nutrition , Digestive System Diseases/therapy , Female , Genital Neoplasms, Female/therapy , Humans , Parenteral Nutrition/adverse effects , Parenteral Nutrition/methods , Perioperative Care , Pneumothorax/etiology , Pregnancy , Pregnancy Complications/therapy , Sepsis/etiologyABSTRACT
BACKGROUND: The objective of this study was to clarify the significance of perivascular lymphocytic infiltrates (PLI) in endometrial carcinoma. METHODS: The pathologic records of 127 patients with endometrioid type adenocarcinoma confined to the uterus were reviewed retrospectively. The patients were divided into 4 groups based on the presence or absence of vascular invasion (VI) and PLI: VI-PLI- (n = 87), VI-PLI+ (n = 7), VI+PLI+ (n = 22), and VI+PLI- (n = 11). Pathologic features including tumor grade, myometrial invasion, cervical involvement, vascular invasion-associated changes (VIAC; VI and/or PLI), tumor size, ovarian metastasis, and pelvic lymph node metastasis were assessed statistically. RESULTS: Selective pelvic lymphadenectomy was performed in 108 patients, and metastasis was identified in 6 cases (5.6%). Lymph node metastasis was the only independent variable related to recurrence (Cox regression analysis, P = 0.0008). Perivascular lymphocytic infiltrates correlated closely with VI (Fisher exact test, P < 0.0001). Vascular invasion-associated changes was the best predictor of lymph node metastasis (logistic regression analysis, P = 0.039), but among the three categories of VIAC, only the VI+PLI- group was significantly associated with lymph node metastasis (P = 0.0045). The odds ratios of VI+PLI- and VI+PLI+ cases for lymph node metastasis were 64.54 and 3.24, respectively. CONCLUSIONS: Although VIAC is the best predictor of lymph node metastasis, the presence of PLI is associated with a lower risk of lymph node metastasis among VIAC groups.
Subject(s)
Endometrial Neoplasms/pathology , Lymphatic Metastasis/diagnosis , Lymphocytes/pathology , Endometrial Neoplasms/mortality , Female , Humans , Neoplasm Invasiveness/pathology , Prognosis , Retrospective Studies , Survival AnalysisABSTRACT
OBJECTIVE: To evaluate the efficacy of adjuvant hysterectomy with chemotherapy for women with low-risk gestational trophoblastic disease. METHODS: One hundred fifteen consecutive Japanese women (16-52 years old) with low-risk gestational trophoblastic disease (46 with metastatic disease and 69 without) were treated initially with single-agent chemotherapy (etoposide in 85, methotrexate in 27, and actinomycin D in three) with or without adjuvant hysterectomy, and 97 patients (84.3%) achieved primary remission with those treatments. Eight women (9.4%) treated with etoposide required other regimens because of drug resistance or toxicities. The total dose of etoposide given to achieve primary remission was analyzed in 77 women who received etoposide alone or with adjuvant hysterectomy. RESULTS: In 34 women with metastatic disease, the mean (+/- standard deviation [SD]) total dose of etoposide was not significantly different with and without adjuvant hysterectomy (2857 +/- 842 mg versus 2815 +/- 815 mg; P =.957; Mann-Whitney U test). However, in 43 women without metastases, the total dose of etoposide was significantly less in those who had adjuvant hysterectomies than in those who did not (1750 +/- 635 mg versus 2545 +/- 938 mg; P <.05; Mann-Whitney U test). CONCLUSION: Adjuvant hysterectomy decreased the total dose of etoposide given to achieve primary remission in women with nonmetastatic, low-risk gestational trophoblastic disease. If the lesions of gestational trophoblastic disease are confined to the uterus and the woman has no desire to preserve fertility, she should be informed of adjuvant hysterectomy as a treatment option.
Subject(s)
Antineoplastic Agents/therapeutic use , Hysterectomy , Trophoblastic Neoplasms/drug therapy , Trophoblastic Neoplasms/surgery , Uterine Neoplasms/drug therapy , Uterine Neoplasms/surgery , Adolescent , Adult , Chemotherapy, Adjuvant , Dactinomycin/therapeutic use , Etoposide/therapeutic use , Female , Humans , Methotrexate/therapeutic use , Middle Aged , Pregnancy , Treatment OutcomeABSTRACT
OBJECTIVE: A case of well-differentiated villoglandular adenocarcinoma of the uterine cervix, which was positive for human papillomavirus type 18, was reported. METHODS: The patient was a 52-year-old multipara who was referred to our department because of an abnormal Papanicolaou smear. A 4.0-cm exophytic lesion involving the cervix was detected. She was staged as FIGO IIa and radical hysterectomy combined with bilateral pelvic lymphadenectomy was performed. In addition to histopathological examination of the resected tumor, immunohistochemical studies of estrogen and progesterone receptors were performed using monoclonal antibodies. Detection of human papillomavirus DNA was attempted by polymerase chain reaction using consensus primers. RESULTS: The tumor was a typical well-differentiated villoglandular adenocarcinoma involving the vaginal wall. Both estrogen and progesterone receptors were negative. Human papillomavirus type 18 DNA was detected in the resected tumor. CONCLUSION: 'This is the first report of a case of typical well-differentiated villoglandular adenocarcinoma which was positive for human papillomavirus.
Subject(s)
Adenocarcinoma/virology , Papillomaviridae/isolation & purification , Papillomavirus Infections/complications , Tumor Virus Infections/complications , Uterine Cervical Neoplasms/virology , Adenocarcinoma/pathology , DNA, Viral/analysis , Female , Humans , Immunohistochemistry , Middle Aged , Papillomaviridae/genetics , Papillomavirus Infections/genetics , Receptors, Estrogen/analysis , Receptors, Progesterone/analysis , Tumor Virus Infections/genetics , Uterine Cervical Neoplasms/pathologyABSTRACT
We retrospectively reviewed the pathologic features of patients with endometrial carcinoma (EC) treated in our facility between 1989 and 1998. First, we identified the clincopathologic features of young women with EC and compared them with similar patients from the literature. Second, 148 EC patients were divided into two groups: group A (age=45 years, n = 20) and B (age>45, n = 128). The mean follow-up periods were 65 months and 50 months in groups A and B, respectively. Group A patients had better disease-free survival (Kaplan-Meier method, P = 0.0283) compared to group B patients. The independent variables related to disease-free survival (Cox regression analysis) were age (P = 0.0001), stage (P = 0.0183), histology (P = 0.0011), and lymph node metastasis (P = 0.0007). The distribution of stage was significantly different between the two groups (Chi-square test, P = 0.0089). More group A patients (18 of 20; 90%) had early stage disease. There were no significant differences (Fisher's exact test) between the two groups in histology, grade, cervical involvement, vascular invasion, tumor size, ovarian malignancy, and lymph node metastasis. However, group A patients had a significant higher incidence of disease confined to the inner half of the myometrium than group B patients (P = 0.0004). We statistically confirmed that young women with EC had better outcome due to a significantly higher proportion of early stage disease and less myometrial invasion than older patients.
ABSTRACT
A human embryonal carcinoma (EC) cell line, NEC14, was pluripotent and the tumors formed in nude mice contained differentiated somatic and extra-embryonic elements in addition to EC. The NEC14 cells could be induced to differentiate with 5 differentiation inducers in vitro, and N,N'-hexamethylene bisacetamide (HMBA) showed the most potent differentiator induction among them. All of the NEC14 cells were morphologically differentiated when exposed to 10(-2) M HMBA for 3 days. The differentiated derivatives ceased to proliferate in vitro and became non-tumorigenic in nude mouse. Several differentiation markers appeared in the differentiated derivatives. When the tumor-bearing nude mice were injected intraperitoneally with HMBA (10mg, twice a week), the tumor growth was inhibited. These results show that human EC is a useful model of differentiation-induction in cancer therapy.