Transformation of recurrent dermatofibrosarcoma protuberans to its pigmented variant (Bednar tumour)
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Biomarkers, Tumor↗
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Results for “Recurrent variant”
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Benign recurrent transient monocular blindness: a possible variant of acephalgic migraine.
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Adult↗
Comparison of p53 and CD44 variant 6 expression between paired primary and recurrent ovarian cancer: an immunohistochemical analysis.
Progression of malignant potential in ovarian cancer was investigated by comparing recurrent tumor with their primary tumor counterparts in terms of p53 and CD44 variant 6 (CD44v6) expression. Forty-three paired primary and recurrent tumors were immunohistochemically evaluated for expression of p53 and CD44v6. A paired analysis revealed that p53 and CD44v6 expression were significantly greater in recurrent tumors than those in the primary counterparts with statistical significance, respectively (P=0.0055 and 0.0071; Wilcoxon signed-rank test). No relationship between these two proteins was found. These results suggested that recurrent ovarian cancer may possibly express a stronger malignant potential in comparison to the primary tumor.
Adenocarcinoma, Clear Cell↗
Variant subpopulations of Staphylococcus aureus as cause of persistent and recurrent infections.
While S. aureus small colony variants (SCVs) have been recognized in clinical materials for decades, only recently have these strains been linked to persistent, resistant, and relapsing infections. The biochemical basis for this phenotype appears to be reduced electron transport, which leads to many changes in these organisms, including decreased alpha-toxin production. Reduced alpha-toxin has been found to facilitate bacterial survival within cultured endothelial cells. This SCV subpopulation is more resistant to antibiotics, grows very slowly, and demonstrates unusual colony morphology. Hence, these resistant strains can be easily overloaded in the clinical microbiology laboratory, and may be resistant to conventional antibiotic therapy. Clinicians should ask the laboratory to search for SCVs with relapsing and resistant S. aureus infections.
Animals↗
Glutathione peroxidase 1 gene polymorphism and risk of recurrence in patients with superficial bladder cancer.
OBJECTIVES: To investigate the potential of genetic polymorphism (Pro198Leu) in the human glutathione peroxidase 1 (hGPX1) gene as a biologic marker predictive of bladder cancer recurrence. Given the high propensity for superficial bladder cancer recurrence, biologic markers that are predictive of recurrence may provide additional helpful information in bladder cancer treatment. To date, few valuable molecular markers have been closely associated with bladder cancer recurrence. METHODS: In this ongoing prospective study, we investigated the potential of genetic polymorphism (Pro198Leu) in the hGPX1 gene, whose protein product is an important metabolic enzyme, as a recurrence predictor. RESULTS: This study included 224 patients with superficial bladder cancer. During a median follow-up of 25.2 months, 138 (61.6%) of the 224 patients experienced disease recurrence. Patients with the hGPX1 wild type had marginally shorter recurrence-free survival compared with those with the hGPX1 variant genotype (log-rank test, P = 0.066). The difference was even greater in whites (log-rank test, P = 0.036). When we performed multivariate analysis using Cox proportional hazards model, we detected a borderline protective role for the hGPX1 variant genotype in recurrence, with a hazard ratio of 0.71 (95% confidence interval 0.48 to 1.05). The protective association was even stronger in whites (hazard ratio 0.63, 95% confidence interval 0.42 to 0.96). CONCLUSIONS: Our findings suggest that a genetic polymorphism in the hGPX1 gene may serve as a molecular marker for monitoring bladder cancer recurrence.
Aged↗
A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.
Vohwinkel syndrome (VS) is a family of genodermatoses which exhibits extensive clinical and genetic heterogeneity. Here, we studied a pedigree originating from the UK with typical features of the ichthyotic variant of VS and identified a recurrent insertion mutation in the loricrin gene resulting in a mutant polypeptide with an unusual C terminus. Functional studies in transgenic mice have shown that the accumulation of mutant loricrin in the nucleus appears to interfere with the later stages of epidermal differentiation, thereby explaining the clinical manifestations of ichthyosis, keratoderma and pseudoainhum. Our findings extend the body of evidence implicating mutations in the loricrin gene as the underlying cause of VS.
Female↗
The syndrome of variant angina culminating in acute myocardial infarction.
Ten patients 28-54 years old with recurrent attacks of variant angina (chest pain associated with transient ST-segment elevation) culminating in acute myocardial infarction were studied. Systemic blood pressure and heart rate remained unchanged or decreased during chest pain. Diagnosis of myocardial infarction was made on the basis of pathognomonic enzyme changes and T-wave inversions persisting for several weeks (seven patients) or development of Q waves (three patients). Complications were similar to the ones previously observed in conventional myocardial infarction. None of these patients died. Past history was characterized by absence of effort angina. Exercise stress testing after infarction was normal, and coronary arteriography revealed a spectrum of pathology, ranging from normal arteriograms to three-vessel disease. Intraaortic balloon pumping was ineffective in two patients, but subsequent coronary bypass surgery shortly after myocardial infarction was not followed by further attacks of chest pain. Follow-up of these patients revealed a benign course. Alcohol drinking and cigarette smoking appeared to be very prevalent in this group.
Acute Disease↗
Recurrent FGFR2 and PIK3CA Mutations in Sialoblastoma.
PURPOSE: Sialoblastoma is an extremely rare low-grade malignant salivary gland neoplasm that presents at birth or early infancy and has heterogeneous clinical behavior. Due to its rarity, the molecular landscape remains incompletely characterized. We aimed to expand the current understanding of the genetic alterations in sialoblastoma through comprehensive molecular analysis. METHODS: Five sialoblastoma cases were retrieved from four institutional archives. Clinical and pathologic review was performed, and targeted next-generation sequencing was conducted using clinically validated panels. Copy number analysis was performed on four cases. RESULTS: The cohort included five patients with tumors located in parotid gland (n = 2), minor salivary glands (n = 2), and submandibular gland (n = 1). Four patients were diagnosed before 6 months of age. Histologically, all tumors showed solid organoid nests with primitive basaloid cells, dense fibrous stroma, and mitotic activity ranging from 8 to 25 per 10 high-power fields. Recurrent FGFR2 p.C382R variants were identified in 80% (4/5) of cases. Additional alterations were seen in FGFR2 p.C382R mutated tumors, including PIK3CA hotspot mutations in two cases (p.R88Q, p.R38H) and a truncating FGFR2 variant (p.L776Rfs) in one. The single tumor that lacked FGFR2 mutations harbored a CTNNB1 p.I35T variant and showed more favorable histologic features. Copy number analysis revealed recurrent whole-chromosome gains of chromosomes 8, 10, and 11. CONCLUSION: A distinct subset of sialoblastoma has FGFR2 p.C382R hotspot mutation as the predominant driver mutation. Tumors with this mutation tend to have solid growth pattern, aggressive histologic features, and clinical behavior. The identification of concurrent genomic alterations expands the molecular landscape of this rare tumor. The detection of alternative drivers, such as CTNNB1 hotspot mutations typical of basal cell adenoma, also suggests that a subset of sialoblastoma may represent other salivary gland tumors presenting in infancy.
Humans↗
[Postoperative recurrence of dilatation of the superficial veins of the legs].
The article presents an experience with the operative treatment of 476 patients with recurrent dilatation of superficial veins of lower extremities. True and false variants of the recurrences are discussed as well as problems of their diagnosis and treatment. Stress is made on high specific weight (87%) of patients with the development of recurrences due to incomplete examinations and technical defects during the first operation. In 13% of the patients recurrences were caused by progress of the varicose disease and non-eliminated hypertension in profound veins due to their ectasia and incompetence of the valves.
Humans↗
Widespread coronary inflammation in unstable angina.
BACKGROUND: Inflammation within vulnerable coronary plaques may cause unstable angina by promoting rupture and erosion. In unstable angina, activated leukocytes may be found in peripheral and coronary-sinus blood, but it is unclear whether they are selectively activated in the vascular bed of the culprit stenosis. METHODS: We measured the content neutrophil myeloperoxidase content in the cardiac and femoral circulations in five groups of patients: two groups with unstable angina and stenosis in either the left anterior descending coronary artery (24 patients) or the right coronary artery (9 patients); 13 with chronic stable angina; 13 with variant angina and recurrent ischemia; and 6 controls. Blood samples were taken from the aorta, the femoral vein, and the great cardiac vein, which selectively drains blood from the left but not the right coronary artery. RESULTS: The neutrophil myeloperoxidase content of aortic blood was similar in both groups of patients with unstable angina (-3.9 and -5.5, with negative values representing depletion of the enzyme due to neutrophil activation) and significantly lower than in the other three groups (P<0.05). Independently of the site of the stenosis, the neutrophil myeloperoxidase content in blood from the great cardiac vein was significantly decreased in both groups of patients with unstable angina (-6.4 in those with a left coronary lesion and -6.6 in those with a right coronary lesion), but not in patients with stable angina and multiple stenoses, patients with variant angina and recurrent ischemia, or controls. There was also a significant transcoronary reduction in myeloperoxidase content in both groups with unstable angina. CONCLUSIONS: The widespread activation of neutrophils across the coronary vascular bed in patients with unstable angina, regardless of the location of the culprit stenosis, challenges the concept of a single vulnerable plaque in unstable coronary syndromes.
Aged↗
Genetic variant of luteinizing hormone in women with a history of recurrent miscarriage.
Because the biological and clinical significance of a genetic variant of luteinizing hormone (LH) is unclear, we therefore evaluated the occurrence of variant LH in women with a history of recurrent spontaneous abortion (RSA) and related it to specific LH concentrations, luteal function and pregnancy outcome. Of the 85 RSA women, 30 (35.3%) had variant LH (28 heterozygous and two homozygous), and 55 women (64.7%) a normal wild-type LH ratio. These frequencies are similar to those reported from the general Finnish population. No significant differences were observed in specific LH concentrations based on LH status (7.2+/-1.4 IU/l, mean +/- SEM, variant LH, versus 8.5+/-1.6 IU/l, wild-type LH). Variant LH was twice as common in women with body mass index (BMI) > 25 kg/m2 (9/15, 60.0%) than in those with BMI < or =25 kg/m2 (21/70, 30.0%, P < 0.05). The presence of variant LH was not associated with any clear effect on endocrine variables such as endometrial maturation or mid-luteal phase oestradiol and progesterone concentrations. During follow-up, 23 women with variant LH (76.7 %) and 41 with wild-type LH (74.5%) became pregnant: 14 miscarried (21.9%, six with variant LH and eight with wild-type LH) and two had ectopic pregnancies, whereas 48 (75.0%) succeeded (17 with variant LH and 31 with wild-type LH). LH concentrations before pregnancy were similar in women with a successful outcome (8.0+/-1.3 IU/l) or with a miscarriage also in that pregnancy (7.4+/-1.4 IU/l). In conclusion, variant LH is common in RSA women who are relatively overweight (BMI > 25 kg/m2) but its presence is not reflected in endometrial maturation and miscarriage rates.
Abortion, Habitual↗
A variant form of angina pectoris with recurrent transient complete heart block.
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Aged↗
"Tissue-specific mitochondrial dysfunction in keratoconus: An integrated structural, genomic, and functional analysis".
PURPOSE: Keratoconus (KC) is a progressive corneal ectasia characterized by stromal thinning, conical protrusion, and irregular astigmatism, leading to visual impairment. Although oxidative stress is implicated in KC, the role of mitochondrial dysfunction remains unclear. We evaluated mitochondrial structural, genomic, and functional abnormalities in corneal tissues and blood from KC patients. METHODS: This prospective study enrolled 110 KC patients and 55 controls. Transmission electron microscopy (TEM) and immunohistochemistry (IHC) were performed on epithelial and stromal tissues from 10 KC to 5 control corneas assessing mitochondrial morphology, oxidative phosphorylation (OXPHOS) complexes and pro-apoptotic protein NOXA. Whole mitochondrial DNA (mtDNA) sequencing and relative mtDNA copy number analysis were performed on paired blood and corneal tissues from 50 KC patients and 35 controls including both epithelial and stromal samples. Gene expression of mitochondrial biogenesis and oxidative stress-related genes was analysed by qRT-PCR in corneal epithelium from independent 50 KC patients and 15 controls. RESULTS: TEM revealed cristolysis, membrane disruption, and reduced mitochondrial density in KC corneas. IHC showed reduced expression of OXPHOS complexes and increased NOXA expression (p < 0.05). Sequencing identified 1107 mtDNA variants, with more variants in corneal tissues than matched blood (929 vs. 576; p = 0.0002). Recurrent likely pathogenic variants were enriched in complex I-encoding genes (ND4, ND5). KC corneas showed reduced mtDNA copy number, downregulated POLRMT, upregulated NOX4, and significant downregulation of multiple antioxidant genes (p < 0.0001). CONCLUSION: KC patients exhibit tissue-specific mitochondrial abnormalities and impaired oxidative stress regulation, supporting a role for mitochondrial dysfunction in disease pathogenesis and highlighting potential therapeutic targets.
Corneal pathology↗
Molecular analysis of monoclonal antibodies to group variant capsular polysaccharide of Neisseria meningitidis: recurrent heavy chains and alternative light chain partners.
We determined the molecular sequence of monoclonal antibodies (mAbs) to serogroups B and C capsular polysaccharides (PS) of Neisseria meningitidis. N. meningitidis infections are a leading cause of bacterial septicemia and meningitis in humans. Antibodies to PS are fundamental to host defense and diagnostics. The polysaccharide capsule of group B N. meningitidis is poorly immunogenic and thus is an important model for studying pathogen-host co-evolution through understanding the molecular basis of the host immune response. We used a modified reverse-transcriptase PCR to amplify and sequence the V-genes of murine hybridomas produced against types B and C capsular PS. Databank analysis of the sequences encoding the V-genes of type C capsular PS mAb, 4-2-C, reveal that heavy chain alleles are recurrently used to encode this specificity in mice. Interestingly, a V-gene from the same germline family also encodes the V-domain of mAbs 2-2-B, which targets the antigenically distinct serogroup B capsular PS. Somatic mutation, junctional diversity and alternative light chains collectively impart the specificity for these serologically distinct epitopes. Knowledge of the specific immunoglobulin genes used to target common bacterial virulence factors may lead to insights on pathogen-host co-evolution, and the potential use of this information in pre-symptomatic diagnosis is discussed.
Amino Acid Sequence↗
[Variants of the latent course of recurrent rheumocarditis and some electroencephalographic indices of the functional condition of the central nervous system].
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Brain↗
Recurrent annular erythema with purpura: a new variant of leucocytoclastic vasculitis responsive to dapsone.
Annular lesions are rarely reported in the clinical spectrum of leucocytoclastic vasculitis, except in the acute haemorrhagic oedema of the skin. We report three patients who suffered from an extraordinary recurrent annular dermatitis, for 4 years in one case and for decades in the other two. The eruption was characterized by purpuric lesions that had a centrifugal evolution, creating target- or polycyclic patches disseminated on the limbs and trunk. The patients' general condition remained excellent during the attacks. All lesions spontaneously disappeared within 2 weeks, but recurred monthly. In all three cases, the histological changes were consistent with leucocytoclastic vasculitis. One patient had ulcerative colitis and another had a benign immunoglobulin A (IgA) monoclonal gammopathy. These two patients showed a good response to dapsone therapy. This dermatosis probably represents a new and rare variant of leucocytoclastic vasculitis.
Dapsone↗
Antithrombin Cambridge, 384 Ala to Pro: a new variant identified using the polymerase chain reaction.
An antithrombin III variant was identified in the plasma of a female patient with a history of recurrent thromboses. The variant was shown to have normal antigenic levels but reduced heparin and progressive inhibitory activity consistent with an abnormality affecting function at the reactive centre. Polymerase chain reaction amplification of exon 6 of the gene with direct sequencing showed a point mutation resulting in the substitution of a proline for alanine at position 384. This substitution will predictably alter the conformation of the peptide loop containing the reactive centre of the molecule.
Adult↗
Nucleotide excision repair gene polymorphisms and recurrence after treatment for superficial bladder cancer.
PURPOSE: Interindividual differences in DNA repair capacity not only modify individual susceptibility to carcinogenesis, but also affect individual response to cancer treatment. Nucleotide excision repair (NER) is one of the major DNA repair pathways in mammalian cells involved in the removal of a wide variety of DNA lesions. Polymorphisms in NER genes may influence DNA repair capacity and affect clinical outcome of bladder cancer treatment. EXPERIMENTAL DESIGN: To test the influence of NER gene polymorphisms on superficial bladder cancer outcome (recurrence and progression), we conducted a follow-up study of 288 patients with superficial bladder cancer. Median follow-up among patients who were recurrence-free at the end of observation was 21.7 months from diagnosis. The specific polymorphic loci examined include XPA [A/G at 5' untranslated region (UTR)], XPC (poly AT, Ala(499)Val, Lys(939)Gln), XPD (Asp(312)Asn, Lys(751)Gln), XPG (His(1104)Asp), ERCC 1 (G/T at 3' UTR), and ERCC6 (Met(1097)Val, Arg(1230)Pro). RESULTS: The ERCC6 (Met(1097)Val) polymorphism had a significant impact on recurrence: carriers of at least one variant allele (Val) had a significantly higher recurrence risk than carriers of the wild-type allele (Met/Met; hazard ratio, 1.54; 95% confidence interval, 1.02-2.33). There were no overall statistically significant differences in the distributions of the other polymorphisms between patients with and without recurrence. However, when we combined these variant genotypes, there was a significant trend for an increased recurrence risk with an increasing number of putative high-risk alleles. Using individuals with five or fewer putative high-risk alleles as the reference group, individuals with six to seven risk alleles and individuals with eight or more risk alleles had higher recurrence risks, with hazard ratios of 0.92 (0.54-1.57) and 2.53 (1.48-4.30), respectively (P for trend < 0.001). There was also a significant trend for shorter recurrence-free survival time with increasing number of variant alleles (log rank test, P = 0.0007). When we stratified the patients according to intravesical Bacillus Calmette-Guerin treatment, we found a significant trend for shorter recurrence-free survival time in patients with variant alleles of XPA or ERCC6 polymorphisms who received Bacillus Calmette-Guerin treatment (log rank test, P = 0.078 and 0.022, respectively). There were no significant individual or joint associations between these polymorphisms and progression. CONCLUSIONS: These data suggest that interindividual differences in DNA repair capacity may have an important impact on superficial bladder cancer recurrence. A pathway-based approach is preferred to study the effects of individual polymorphism on clinical outcomes.
Aged↗