Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Recurrent variant”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,675 records · Page 93Linked to original sources
PubMed2005

Cystic hypersecretory carcinoma: rare and poorly recognized variant of intraductal carcinoma of the breast. Report of five cases.

AIMS: To report five cases of a rare variant of intraductal carcinoma of the breast, so-called cystic hypersecretory carcinoma. The clinical and pathological characteristics of the lesion are described, along with a review of the literature. METHODS AND RESULTS: The patients were females aged between 53 and 78 years (average 66.8 years). The size of the lesions ranged between 70 and 80 mm in largest dimension. In two cases, the development of high-grade invasive ductal carcinoma was observed; in one additional case there was recurrence of high-grade in-situ carcinoma after 3 years. This emphasizes the importance of correct diagnosis of this potentially aggressive lesion. Strong over-expression of HER-2/neu protein was observed in three cases, including the two with an invasive component. Protein p53 was variably positive in all cases. Steroid receptor immunohistochemistry yielded variable results with only one case being positive for both oestrogen and progesterone receptors. Interestingly, in most cases (4/5) staining for androgen receptors was observed. CONCLUSIONS: Cystic hypersecretory ductal carcinoma of the breast is a rare distinctive variant of ductal carcinoma in situ. It has the potential for invasive growth and the development of metastases.

Aged↗
PubMed1988

Adaptation of anticancer strategies to progress in tumor immunology.

The numerical development of cancer cells during tumor growth and under current forms of therapy is quantitatively described as a fundamental of a scientifically founded anticancer strategy. As to general cancer prevention, suppression of metastasis and reduction of recurrencies, figures are derived, which allow one to assess the minimal number of malignant cells to be killed. The killing potency of current tumor-immunological measures has not so far been sufficient enough to have a good chance of achieving these ambitious goals. The main reason for this is the neglect of the oxygen status of the body and its dynamics. This is a surprising fact, since all immunological mechanisms are known to be energy-, i.e., oxygen-dependent. The experimentally confirmed correlation between the effectiveness of body defense and the quality of the oxygen status was the origin of several variants of the oxygen multistep immunostimulation concept (application of immunostimulators combined with the oxygen multistep therapy). Clinical results reflect the remarkable increase of cell-killing potency achievable by these measures and give reasons for the adaptation of anticancer strategies to progress in tumor immunology. Furthermore, real methodological proposals are made for general cancer prevention, suppression of metastasis, and reduction of recurrences, and the concept of a combined therapy is developed. This therapy comprises the currently accepted measures, such as surgery, irradiation and drugs, and the adjuvant O2 multistep immunostimulation, which is applied threefold according to a particular schedule. The advantage of this combination is that the patient comes first into the enjoyment of all the beneficial effects that established regimens can offer for the particular case. Then and moreover, the patient gains better quality of life, because the adverse side-effects of radiation and drugs are attenuated and, finally, the individual gets a fair chance of stopping the progression of the disease.

Adjuvants, Immunologic↗
PubMed1998

Twiddler's syndrome variants in ICD patients.

Three cases of twiddler's syndrome in patients with an abdominally implanted cardioverter defibrillator (ICD) and an endocardial lead system are reported. The condition was detected when an increase in pacing threshold or lead impedance was noted at routine follow-up. Successful revision was possible in all patients; however, a recurrence in one patient necessitated removal of the device. Elderly female patients with some degree of obesity appear most susceptible. Minimizing pocket size and suturing of the device to the fascia should decrease the chance of developing this problem.

Aged↗
PubMed1986

[Hypotheses: The adaptation of cancer strategy to progress in tumor immunology. General cancer prevention, metastasis prevention and the combination of classical cancer therapies with O2 multistep immunostimulation].

The numerical development of cancer cells during tumor growth and under current forms of therapy is quantitatively described as a fundament of a scientifically founded anticancer strategy. As to general cancer prevention, suppression of metastasis and reduction of recurrencies, figures for orientation are derived, which allow to assess the minimal number of malignant cells to be killed. The killing potency of current tumor immunological measures has been not so far sufficient enough to have a good chance for achieving these pretentious goals. The mean reyason for this to be supposed the neglection of the oxygen status of the body and its dynamics. This is a surprising fact, since all immunological mechanisms are known to be energy-, i.e., oxygen-dependent. The experimentally confirmed correlation between the effectiveness of body defense and the quality of the oxygen status was the origin of several variants of the oxygen multistep immunostimulation concept (application of immunostimulators combined with the oxygen multistep therapy). Clinical results reflect the remarkable increase of the cell-killing potency achievable by these measures and give reasons for the adaptation of anticancer strategies to progress in tumor immunology. Furthermore, real methodological proposals are made for general cancer prevention, suppression of metastasis, and reduction of recurrencies, and the concept of a combined therapy is developed. This therapy comprises the currently accepted measures, such as surgery, irradiation and drugs, and the adjuvant O2 multistep immunostimulation, which is applied three-fold according to a specific schedule. The advantage of this combination is that the patient comes first into the enjoyment of all the beneficial effects that established regimens can offer for the particular case. Then and moreover, the patient gains better quality of life, because the adverse side-effects of radiation and drugs are attenuated and, finally, the individual gets a fair chance of stopping the progression of the disease.

Cell Transformation, Neoplastic↗
PubMedDate not supplied

Liver transplantation and hepatocellular carcinoma.

Liver transplantation for advanced hepatocellular carcinoma (HCC) continues to be a subject of debate mostly due to a uniformly high failure rate secondary to recurrence. However, accumulating experiences have enabled detailed analysis of the prognostic factors affecting patient outcome. Clinicopathological factors affecting survival have been reported to include tumor size, number, lobar distribution, vascular invasion, lymphnode metastasis, and histologic type such as fibrolamellar variant of HCC. Poor prognosis has been associated with advanced stage of the tumor, particularly pTNM stage IV. Many transplant centers now use a protocol of adjuvant chemotherapy with reasonable success, although experiences are limited. Better understanding in tumor biology, particularly of the role of immunosuppression affecting tumor growth, will provide further success in the treatment of HCC by liver transplantation.

Carcinoma, Hepatocellular↗
PubMed1987

Sarcomatoid renal cell carcinoma. A treatable entity.

Of 920 patients with histologically confirmed renal cell carcinoma (RCC) seen at University of Texas M. D. Anderson Hospital over a 10-year period, 44 (4.8%) had the sarcomatoid variant. The authors show that, although sarcomatoid RCC has as common denominators with classic RCC in certain epidemiologic parameters such as age and sex, its biologic behavior is different. It is more malignant, has a higher metastatic rate, ultimate recurrence in localized disease which translates to a shorter survival time. Metastasis at presentation, advanced age (older than 59 years) and female sex were a associate with a worse prognosis. This entity is characterized by a high incidence of bone metastasis at presentation (48%) and by a tendency toward pathologic bone fractures. All of the untreated patients died very soon after diagnosis (median, 3.8 months), whereas all of the patients treated with the various systemic modalities initiated only in the presence of metastatic disease survived significantly longer (median, 13.0 months). Of the eight patients who were treated with doxorubicin HCI chemotherapy regimens two (on CYVADIC) showed complete responses and are the only survivors (50, 65 months). Four patients treated with interferon had the longest median survival (41.0 months). These results suggest that CYVADIC chemotherapy should be combined with interferon in this entity. Since surgery is not curative in early stages of sarcomatoid RCC, adjuvant therapy with those agents should be considered.

Adult↗
PubMed2004

Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database.

In this report, we analyze data assembled in the Blood Group Antigen Gene Mutation Database (www.bioc.aecom.yu.edu/bgmut/index.htm), which describes sequence information on human genes associated with expression of the various serologically-determined blood group phenotypes. The database documents 38 genetic loci and a total of 624 alleles that together encode a large repertoire of proteins and constitute 27 serologically-defined blood group systems. Analysis of sequence variation patterns across alleles of a number of genes is focused on their molecular profiles, including mutational sites and recurrence, patterns of gene rearrangements in duplicated gene families, correlation of predicted location of epitopes in extracellular loops with sites of alterations, and effects of mutations on protein expression. That information, and the relative ease of identifying individuals bearing variant alleles, has led to the proposal that genes encoding blood group antigens are an important and unique resource for studies of human DNA variation. Another focus is on mutations in regions that encode the antigenic epitopes and on their occurrence in world populations. These mutations may be viewed as coding single nucleotide polymorphisms (cSNPs). We propose that one group of these cSNPs, which are known to occur with significant frequency in all world populations, could serve as well-validated genetic markers. In addition, specific mutations in a number of "low incidence" and rare alleles could serve as cSNPs specific for a given population. The allelic frequencies of these mutations and knowledge of their world-wide occurrence add a valuable dataset to the existing cSNP pools documented in SNP databases.

Alleles↗
PubMed2002

Genetic basis of Rett syndrome.

The origin of Rett syndrome has long been debated, but several observations have suggested an X-linked dominant inheritance pattern. We and others have pursued an exclusion-mapping strategy using DNA from a small number of familial Rett syndrome cases. This work resulted in the narrowing of the region likely to harbor the mutated gene to Xq27.3-Xqter. After systematic exclusion of several candidate genes, we discovered mutations in MECP2, the gene that encodes the transcriptional repressor, methyl-CpG-binding protein 2. Since then, nonsense, missense, or frameshift mutations have been found in at least 80% of girls affected with classic Rett syndrome. Sixty-four percent of mutations are recurrent C > T transitions at eight CpG dinucleotides mutation hotspots, while the C-terminal region of the gene is prone to recurrent multinucleotide deletions (11%). Most mutations are predicted to result in total or partial loss of function of MeCP2. There is no clear correlation between the type and position of the mutation and the phenotypic features of classic and variant Rett syndrome patients, and XCI appears to be a major determinant of phenotypic severity. Further research focuses on the pathogenic consequences of these mutations along the hypothesis of loss of transcriptional repression of a small number of genes that are essential for neuronal function in the maturing brain.

Chromosomal Proteins, Non-Histone↗
PubMed1990

Complex translocations, simple variant translocations and Ph-negative cases in chronic myelogenous leukaemia.

A proportion of cases of chronic myelogenous leukaemia (CML) has been described either (1) with a variant translocation, or (2) without the apparent involvement of both 9q34 and 22q11 (Ph-negative CML). All variant translocations have been further demonstrated to be complex implicating 9q34,22q11, plus another breakpoint on a variable chromosome. Complex translocations may be due to two successive events. Some of the breakpoints on the variable chromosome appear to be recurrent, and these remain to be studied for prognostic significance. Ph-negative CML comprises (1) cases of submicroscopic (hidden) insertion of 9q34-ABL within 22q11-BCR, and (2) cases without BCR-ABL rearrangement. We propose this last category to be called "CML-like disease", not to be confused anymore with true CML, and consequently to be studied as a separate entity.

Chromosomes, Human, Pair 22↗
PubMed2005

Unusually long survival in a case of medullomyoblastoma.

Medullomyoblastoma is a rare variant of medulloblastoma containing a component of striated and smooth muscle with survival of 3 to 4 years following surgery and radiotherapy. The authors report a rare case of medullomyoblastoma with an unusual survival of over 11 years without recurrence. The relevant literature is briefly reviewed.

Cerebellar Neoplasms↗
PubMed1999

Mannose-binding lectin (MBL) deficiency. Variant alleles in a midwestern population of the United States.

OBJECTIVES: To describe a method for the genotype analysis of mutations in the gene encoding mannose binding lectin (MBL), study the incidence of MBL gene mutations in a population of the Midwest of the United States, and compare it with previous reports in other populations. The objective of this report is also an extensive review of the literature to analyze the importance of MBL deficiency in human disease. DATA SOURCES: Blood samples were obtained from the blood bank of the Mayo Clinic. They represented a population of blood donors living in the Midwest of the United States. A review of the literature was performed by selection of articles from Medline database. STUDY SELECTION: Blood samples, 148, were randomly selected from a pool of blood donors. They included both females and males. Blood donors had been previously screened by a questionnaire and were found to be generally healthy. For the literature review, articles containing original data on MBL in humans were selected. RESULTS: Forty-five (30.4%) of the analyzed blood donors carried one variant allele, while 8 donors (5.4%) showed homozygosity or compound heterozygosity for MBL gene mutations. Allele frequency for the different MBL variants is provided. Our results are similar to those reported for the Danish population. Literature review provides evidence for a significant role of MBL deficiency in the innate immunity. The incidence of MBL mutations is higher among patients with recurrent infections and autoimmune disorders. CONCLUSIONS: Mannose binding lectin deficiency has a definite role in the pathogenesis of primary immunodeficiency in humans and screening patients with recurrent infections and autoimmunity might be beneficial. The significance of MBL deficiency among apparently healthy blood donors remains to be determined.

Adult↗
PubMed1997

The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

Tuberous sclerosis is an autosomal dominant trait in which the dysregulation of cellular proliferation and differentiation results in the development of hamartomatous growths in many organs. The TSC2 gene is one of two genes determining tuberous sclerosis. Inactivating germline mutations of TSC2 in patients with tuberous sclerosis and somatic loss of heterozygosity at the TSC2 locus in the associated hamartomas indicate that TSC2 functions as a tumour suppressor gene and that loss of function is critical to expression of the tuberous sclerosis phenotype. The TSC2 product, tuberin, has a region of homology with the GTPase activating protein rap1GAP and stimulates the GTPase activity of rap1a and rab5a in vitro. Here we show that the region of homology between tuberin and human rap1GAP and the murine GAP mSpa1 is more extensive than previously reported and spans approximately 160 amino acid residues encoded within exons 34-38 of the TSC2 gene. Single strand conformation polymorphism analysis of these exons in 173 unrelated patients with tuberous sclerosis and direct sequencing of variant conformers together with study of additional family members enabled characterisation of disease associated mutations in 14 cases. Missense mutations, which occurred in exons 36, 37 and 38 were identified in eight cases, four of whom shared the same recurrent change P1675L. Each of the five different missense mutations identified was shown to occur de novo in at least one sporadic case of tuberous sclerosis. The high proportion of missense mutations detected in the region of the TSC2 gene encoding the GAP-related domain supports its key role in the regulation of cellular growth.

Amino Acid Sequence↗
PubMed1991

Accuracy in diagnosis of lymphomatoid papulosis.

This study was undertaken to assess the accuracy of histologic diagnosis of lymphomatoid papulosis (LyP), which may be confused with malignant lymphoma or other entities. It is essential that accurate diagnoses be made because LyP may be a marker for malignant lymphoma. All 15 examples of LyP reviewed in a dermatopathology laboratory during a 14-year period and 180 histologic sections of tissue that could be confused with LyP were reviewed. Criteria for diagnosis of LyP were applied without benefit of clinical history, and revised diagnoses were made where indicated. Clinical follow-up information was obtained and original accuracy of diagnosis was assessed by comparing clinical courses with original histologic diagnoses. In cases of LyP in which numerous atypical lymphoid cells were present, 100% accuracy was noted. When fewer atypical lymphoid cells were present and inflammatory cell infiltrates were less dense, the diagnosis was less certain. Overall, a 64% correlation of clinical course and histologic diagnosis of LyP was noted. We conclude that the histologic diagnosis of LyP is generally reliable and accurate; however, in some cases a precise diagnosis cannot be made with certainty. Cases with fewer atypical lymphoid cells may fail to correlate well with the classic course of LyP and may represent a variant or histologic simulator.

Cell Nucleus↗
PubMedDate not supplied

Depressed host immunity in a case of metachronous primary uterine papillary serous carcinoma and non-Hodgkin's lymphoma.

Metachronous primary malignant tumors of uterine papillary serous carcinoma (UPSC) and non-Hodgkin's lymphoma (NHL) are rare. UPSC is a clinically aggressive and morphologically distinctive variant of endometrial carcinoma. We describe the clinical features of a 63-year-old patient with UPSC that was found 2 years after chemotherapy for malignant lymphoma of neck, stage IV and 5 months after radiation therapy for recurrence. This patient had undergone staging surgery and postoperative radiation for UPSC. One month after completion of radiotherapy, the patient expired due to persistence of the disease. The association between host immunity and UPSC is rarely described in the literature. Immunological profiles of this patient, with compositional changes of natural killer, B, and T cell, dramatically altered the percentage of CD4(+) T cell, CD8(+) T cell, and CD4/CD8 ratio, signifying depressed host immunity. Immunological profile of this patient stressed the issue of depressed host immunity and associated malignancies.

Carcinoma, Papillary↗
PubMed1977

Antigenic shift of visna virus in persistently infected sheep.

Visna viruses isolated from persistently infected sheep were antigenically distinct from the plaque-purified virus used for inoculation. The selection of antigenic variants under antibody pressure, thought to occur in vivo, was reproduced in sheep cell cultures inoculated with plaque-purified visna virus and maintained in antibody. Antigenic shift may be a mechanism for persistence of virus in slow or recurrent viral infections.

Animals↗