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PubMed2026

Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.

PURPOSE OF REVIEW: Kidney stones have a high heritability. More than 40 genes have been identified causing monogenic forms of kidney stone disease (KSD). Kidney stone formers with genetic variants implicated in monogenic forms of KSD often suffer from early onset, high recurrence rates, and chronic kidney disease. Some patients may also exhibit extrarenal disease requiring attention. RECENT FINDINGS: Recent analysis of KSD patients identified a likely monogenic cause in pediatric populations in 17-30% of participants while in adult unselected populations 2.7-8% had a positive finding. More patients carry single genetic variants in monogenic forms that are classically considered as autosomal recessive but may cause an intermediate genetic risk for the development of KSD possibly in interaction with environmental or lifestyle factors. Genome-wide association studies have identified additional risk loci associating with KSD. Their clinical relevance are currently investigated. Patients with recurrent kidney stone episodes may be at elevated risk of progressive chronic kidney disease. SUMMARY: Monogenic causes of KSD are prevalent in patients less than 25 years of age and in some patients with high-risk metabolic profiles. These patients should undergo genetic testing to enable a precise molecular genetic diagnosis and personalized therapy as well as family counseling and screening.

Humans↗
PubMed2002

Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia.

Fusions of the TET-proteins (TLS/FUS, EWSR1, and TAF15/RBP56) to different transcription factors are involved in various malignancies including Ewing's sarcoma, primitive neuroectodermal tumors, and acute myeloid leukemia. These are thought to arise through transcriptional deregulation, with the transcription factor defining the tumor phenotype. We show that, as result of a t(12;17)(p13;q11) or its variant t(12;22)(p13;q12), the transcription factor gene CIZ/NMP4 is recurrently involved in acute leukemia through fusion with either EWSR1 or TAF15. The fusions possess transforming properties in NIH3T3 cells but do not affect the expression of CIZ target genes, suggesting a contribution to oncogenesis that is independent of the transactivating properties of the fusion protein. These results also extend the involvement of TET-protein fusions to acute lymphoblastic leukemia and suggest a role for CIZ/NMP4 in lymphoid and myeloid development.

3T3 Cells↗
PubMed2005

Aberrations in the progesterone receptor gene and the risk of recurrent endometrial carcinoma.

A case-control study was performed in order to determine whether expression of the progesterone receptor (PR) and/or aberrations of the PR gene contribute to the development of recurrent endometrial carcinoma. Primary tumours from 44 patients with recurrence of stage I endometrial carcinoma (patients) within 3 years after initial treatment were compared with tumours from 44 matched patients who were free of recurrence for a minimum of 3 years (controls). Paraffin wax-embedded primary tumours (n = 88) and recurrent tumours (n = 32) were analysed immunohistochemically for PR expression. A staining index (SI = 0-9) based on the staining intensity and the number of stained cells was calculated. DNA extracted from paraffin wax-embedded tissues was subjected to PCR-restriction fragment length polymorphism analysis (PCR-RFLP) for determination of the PROGINS DNA sequence alterations and the +331G/A-promoter polymorphism. Low PR expression (SI < 1.0) was observed in 7% of primary tumours derived from controls, 25% of primary tumours from patients with recurrence, and 38% of recurrent tumours. The expression of PR was significantly lower in primary tumours from patients with recurrence (SI = 4.0 +/- 0.5) than in the tumours in the control group (SI = 5.6 +/- 0.5) (T-test for paired analysis, p < 0.05). The PROGINS and +331G/A-promoter polymorphism were not related to age at diagnosis, tumour grade or myometrial invasion. The +331G/A-promoter polymorphism was present in 14% of primary tumours from patients without recurrence, compared with 17% of patients with recurrence. The PROGINS polymorphism was observed in 16% of primary tumours from patients without, and in 34% of patients with, recurrence (OR 2.6; 95% CI: 0.9-7.6). Most interestingly, patients who carried the PROGINS variant and in whom a PR-expressing tumour was diagnosed were at significantly enhanced risk of relapse (OR 4.7; 95% CI: 1.3-17.1). In conclusion, low PR expression tended to be associated with recurrent disease, and PR expression in tumours from patients carrying the PROGINS allele was predictive of the risk of recurrence.

Age Factors↗
PubMed1982

A new familial variant of antithrombin III: 'antithrombin III Paris'.

A 59-year-old woman presented a recurrent history of thromboembolism. A qualitative defect of antithrombin III (AT III) was suggested by the discrepancy between a normal amount of AT III antigen and a decreased heparin cofactor activity. Six members of the same family showed a similar defect although clinically asymptomatic. The qualitative abnormality of AT III was confirmed by two-dimensional immunoelectrophoresis. In the absence of heparin, a single peak was obtained with both control and patients' plasmas. In the presence of heparin, two peaks of AT III were observed in the patients' plasmas: the mobility of one peak was similar to that of the control, whereas the other showed a decreased mobility, suggesting a lack of binding to heparin. The two populations of AT III were separated by affinity chromatography on heparin-agarose. 50% of the patients' AT III bound to the agarose beads. The remainder, recovered in the supernatant, migrated in two-dimensional immunoelectrophoresis as a single peak with the same mobility in the presence or absence of heparin, and was devoid of heparin cofactor activity. This familial AT III variant characterized a reduced affinity for heparin is tentatively named 'Antithrombin III Paris'.

Antigens↗
PubMed1999

Lack of association between mannose-binding lectin, acute otitis media and early Epstein-Barr virus infection among children in Greenland.

Low serum levels of mannose-binding lectin (MBL) have been associated with recurrent infections in early childhood. Otitis media (OM) is frequent in Greenlandic children and the first episode of acute OM (AOM) occurs early, as is the case also with Epstein-Barr virus (EBV) infection. We have therefore investigated the association between MBL genotypes, episodes of AOM, and early EBV infection in 82 community-based, unselected children in Greenland. Nasopharyngeal aspirations for EBV and MBL genotype examination, nasopharyngeal bacterial cultures, and history of AOM episodes were obtained. MBL genotypes were established in 73 specimens: 68% of these were homozygous for normal wildtype (AA), and 32% were homozygous or heterozygous for variant alleles that are associated with absence or low MBL serum level. The allele frequencies were: A = 0.88, B = 0.08 (codon 54) and D = 0.04 (codon 52). EBV was found in 41 specimens, more often with increasing age, and significantly related to ethnicity. Presence of variant MBL alleles or EBV infection was not associated with AOM, recurrent AOM (rAOM) or age at first AOM episode and EBV positive children with homozygosity for the normal MBL genotype did not have significantly more episodes of AOM, rAOM or earlier age at the first AOM episode. MBL genotypes and EBV infection alone or in interplay are not associated with the high prevalence of OM in Greenlandic children. The study suggests that low MBL level does not by itself predispose to AOM in community-based, unselected children.

Acute Disease↗
PubMed1983

Nifedipine therapy for coronary vasospasm.

In conclusion, we observed first that nifedipine is highly efficacious in preventing the coronary vasospasm of Prinzmetal's variant angina. Secondly, nifedipine appears to be efficacious in preventing episodes of recurrent rest angina following an acute myocardial infarction. Although coronary vasospasm has not been clearly documented in patients with recurrent rest angina after infarction, a primary decrease in coronary blood flow is the most likely cause of this syndrome since the ischemia occurs at rest, at a time when myocardial oxygen demands are not elevated. In this highly unstable group of patients with coronary disease nifedipine may eliminate the need for bypass surgery or may provide clinical stability prior to more elective cardiac catheterization and surgery.

Angina Pectoris↗
PubMed1980

Isoenzyme variants of nonspecific esterases in chronic myelocytic leukemia and in blastic crisis.

The isoenzymes of nonspecific esterases have been examined with polyacrylamide gel electrophoresis in 10 patients with chronic myelocytic leukemia (CML) and 10 with blastic crisis (BC) in respect to normal subjects. In patients with active CML the recurrent loss of fast bands was detected, while in patients in remission the isoenzyme variants are similar to those found in normal subjects. Different isoenzyme variants which are similar to those found in acute leukemia were detected in patients with BC of differenct morphological type with the exception of BC of megakaryoblastic type. The possible meaning of such variants in relation to an early identification of malignant proliferating clones, is discussed.

Esterases↗
PubMed1998

Coronary stent for variant angina: atypical presentation.

Pharmacological therapy remains the treatment of choice for Prinzmetal angina. We report an unconventional approach of coronary artery stenting to treat coronary artery spasm in variant angina refractory to triple drug therapy. Favorable clinical and angiographic results and a negative Ergonovine test, under less aggressive medical therapy, are valuable arguments for stenting. Four-month angiographic follow-up showed absence of intrastent restenosis with a negative Ergonovine test. However, long-term follow-up is necessary before advocating this as a systematic approach.

Adult↗
PubMed1994

Gianturco-Roubin stent placement for variant angina refractory to medical treatment.

A 43-yr-old man with mild, fixed obstruction of the left anterior descending (LAD) coronary artery and severe, uncontrolled variant angina underwent placement of an endovascular stent to preserve patency of the artery. The decision for stent placement was based on several factors, including refractoriness to medical treatment and standard balloon angioplasty, documented spasm localized to the proximal LAD lesion, and the morbidity, mortality, and costs associated with the surgical approach in this type of patient. At follow-up, there was moderate restenosis of the stented coronary segment; the vasospastic angina syndrome had totally resolved.

Adult↗
PubMedDate not supplied

Adenoid cystic salivary gland carcinoma: a clinicopathologic correlation.

Between 1960 and 1980, 71 cases of adenoid cystic carcinoma (ACC) were reviewed according to treatment modality and clinical course. Histologic review of pathologic slides was performed to classify the tumors into their predominant histologic pattern (tubular, cribriform, solid). The predominant histologic patterns of the tumors were equally divided between tubular and cribriform. Very few were classified as a solid pattern. In the patients receiving the same type of therapy (surgery and irradiation), the cribriform and tubular variants of ACC demonstrated no difference in the rate of distant metastases and overall survival. The cribriform variant demonstrated a significantly worse prognosis in terms of local recurrence rate. The patients who had a solid histologic pattern of ACC appeared to have an overall worse prognosis in terms of distant metastases and long-term survival. The long-term survival of patients with ACC may be related to the development of distant metastases despite local control.

Carcinoma, Adenoid Cystic↗
PubMed1989

Ameloblastoma in young persons: a clinicopathologic analysis and etiologic investigation.

Ameloblastoma, an odontogenic tumor of ectodermal origin, has been reported to arise, on rare occasions, in a primordial or dentigerous cyst of a young person. Numerous authors have suggested differing nomenclatures for these ameloblastomas (e.g., mural, unicystic, monocystic, intracystic, cystogenic, cystic, plexiform unicystic) and have sought to describe and classify the clinical and histopathologic features. These tumors have been characterized as a distinct variant exhibiting less aggressive behavior and a lower rate of recurrence than conventional ameloblastoma. Furthermore, various etiologic factors have been proposed for these cystic ameloblastomas, including (1) nonspecific irritational factors such as extraction, caries, trauma, infection, inflammation, or tooth eruption; (2) nutritional deficit disorders, and (3) viral infection. The files of the combined accessioned cases of Emory University's and Temple University's oral pathology laboratories were searched and a review of the literature was performed. Thirty-eight cases of mandibular ameloblastoma (37 intraosseous, 1 peripheral) in persons 19-year-old and younger were found from a combined total of 311 accessioned cases of ameloblastoma (12.2%). The average age at diagnosis was 10.4 years for the 18 males and 20 females. Of the 33 cases in which race was stated, 19 (57.6%) were white and 14 (42.4%) were black. In the 28 cases in which a clinical diagnosis was offered, fifteen (53.6%) were thought to be dentigerous cysts. Ten cases from patients less than 19 years old were investigated by means of an immunohistochemical staining technique for the detection of human papilloma virus (HPV) genus-specific structural antigen in formalin-fixed, paraffin-embedded tissue. Three of the ten cases (cases 31, 37 and 38) were positive for HPV capsid antigen, whereas none of ten randomly selected ameloblastomas in adults was positive. A discussion of the clinical and histopathologic comparative findings, with emphasis on treatment results and possible HPV etiology, is included. The preliminary nature of finding HPV in the tumor cells is stressed, with recommendation for further verification and typing with the more sensitive in situ hybridization technique.

Adolescent↗
PubMed1989

Syndromology: an updated conceptual overview. I. Syndrome concepts, designations, and population characteristics.

Part I introduces the survey and presents a topic outline of the 10 parts that make up this overview of syndromology in this and the next four issues. The discussion in Part I considers various concepts and definitions of the term "syndrome" and different ways of applying syndrome designations. A population definition of a syndrome is then developed to show the meaning of common, less common, and occasional anomalies in various syndromes. The differences between a true multiple anomaly syndrome and a variant familial pattern are discussed. Finally, two types of weak recurrent patterns--chance patterns and association patterns--are explained.

Disease↗
PubMed1999

TEL/AML1 positivity in childhood ALL: average or better prognosis? Czech Paediatric Haematology Working Group.

The presence of TEL/AML1 fusion gene in childhood acute lymphoblastic leukaemia (ALL) defines a subgroup of patients with better than average outcome. However, the prognostic significance of this aberration has recently been disputed by the Berlin-Frankfurt-Münster (BFM) study group due to its relatively high incidence found in relapsed patients (19.6% and 21.9%, in two cohorts). In contrast, only four out of 45 (8.9%) unselected relapsed patients (all of whom had been treated according to BFM protocols) in the Czech Republic carry this fusion. From March 1995 to June 1998, 41 out of 190 (21.6%) newly diagnosed children with ALL were TEL/AML1-positive. There is a statistically significant difference between the incidence of TEL/AML1 fusion at diagnosis and at relapse within our group (P = 0.035). Interim analysis of the minimal residual disease (MRD) detection shows heterogeneity within the group of newly diagnosed TEL/AML1-positive leukaemias--10 out of 24 patients tested at the end of induction therapy had detectable levels of MRD. However, only one of these patients reached relapse-predictive level (10(-3)) of MRD. In conclusion, we corroborate low frequency of TEL/AML1 positivity among relapsed patients with ALL among Czech children who are treated by the BFM protocols. Moreover, we demonstrate different patterns of bone marrow clean-up in TEL/AML1-positive patients.

Adolescent↗
PubMed2003

Allelotype analysis in relapsed childhood acute lymphoblastic leukemia.

We performed for the first time the allelotype of relapsed childhood acute lymphoblastic leukemia (ALL). A total of 38 cases were screened for loss of heterozygosity (LOH) using 71 markers. In all, 26 (68%) patients showed LOH on at least one chromosomal arm, indicating that LOH is a frequent event at relapse. The most frequent loss was found on chromosomal arm 9p at the p16/INK4a locus (39%). LOH at the TEL gene locus on chromosomal arm 12p also occurred often (25%). Frequent loss was observed on chromosome arms 4q (20%), 6q (21%), and 17q (20%). Sequential analysis (i.e. samples obtained from both initial diagnosis and relapse) shows that some patients (63%) have the identical LOH status at both phases, suggesting the presence of the same clone. Other samples (37%) showed distinct LOH alterations, indicating clonal evolution at relapse. Despite the heterogeneous and complex changes, some shared LOH loci occurred in these matched samples, suggesting that many of the same tumor-suppressor genes are aberrant at both phases. In summary, novel tumor-suppressor genes on chromosome arms 4q, 6q, and 17q, as well as the p16 and TEL genes, have an important role in the relapse of childhood ALL.

Adolescent↗
PubMed2001

Aggressive phenotypic and genotypic features in pediatric and NF2-associated meningiomas: a clinicopathologic study of 53 cases.

Pediatric and NF2-associated meningiomas are uncommon and poorly characterized in comparison to sporadic adult cases. In order to elucidate their molecular features, we analyzed MIB-1, progesterone receptor (PR), NF2, merlin, DAL-1, DAL-1 protein, and chromosomal arms 1p and 14q in 53 meningiomas from 40 pediatric/NF2 patients using immunohistochemistry and dual-color fluorescence in situ hybridization (FISH). Fourteen pediatric (42%) patients, including 5 previously undiagnosed patients, had NF2. The remaining 19 (58%) did not qualify. All 7 of the adult patients had NF2. Meningioma grading revealed 21 benign (40%), 26 atypical (49%), and 6 anaplastic (11%) examples. Other aggressive findings included high mitotic index (32%), high MIB-1 LI (37%), aggressive variant histology (e.g. papillary, clear cell) (25%), brain invasion (17%), recurrence (39%), and patient death (17%). FISH analysis demonstrated deletions of NF2 in 82%, DAL-1 in 82%, 1p in 60%, and 14q in 66%. NF2-associated meningiomas did not differ from sporadic pediatric tumors except for a higher frequency of merlin loss in the former (p = 0.020) and a higher frequency of brain invasion in the latter (p = 0.007). Thus, although pediatric and NF2-associated meningiomas share the common molecular alterations of their adult, sporadic counterparts, a higher fraction are genotypically and phenotypically aggressive. Given the high frequency of undiagnosed NF2 in the pediatric cases, a careful search for other features of this disease is warranted in any child presenting with a meningioma.

Adolescent↗