SEARCH · Search PubMed

Results for “clinical variant classification”

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.

SourceResearch connectionFrom yearThrough year

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

At least 235 records · Page 13Linked to original sources

PubMed2001

Rapid molecular analysis of the haemagglutinin gene of human influenza A H3N2 viruses isolated in spain from 1996 to 2000.

A simple molecular technique was used for the rapid preliminary genetic characterization of human influenza A H3N2 viruses isolated in Spain from 1996 to 2000. Subtyping, based on RT-PCR, was followed by subtype-specific restriction enzyme fragment length polymorphism (RFLP) analyses of an amplified region of the HA1 domain of the H3 haemagglutinin (HA) gene to distinguish variants differentiated by common amino acid substitutions in HA1. The approach was tested using 135 Spanish H3N2 isolates and included nucleotide sequencing and phylogenetic analyses of a region of the HA1 domain of 41 representative isolates. The viruses were distinguished by haemagglutination inhibition (HI) assays into two antigenically discernible groups, the A/Wuhan/359/95-like and A/Sydney/5/97-like viruses. The results of PCR-RFLP analysis allowed a finer classification into five genetic variant subgroups, corresponding to those distinguished by phylogenetic analyses. This rapid, simple and variant-specific procedure could, therefore, be used to rapidly screen clinical specimens prior to more detailed antigenic and genetic analyses.

Hemagglutinin Glycoproteins, Influenza Virus↗

PubMed1990

Reviewing the unicystic ameloblastoma: report of two cases.

Classification of ameloblastoma into solid, multicystic, unicystic, and peripheral types based on clinical appearance and effects has gained recent recognition. The unicystic ameloblastoma is a less encountered variant of the ameloblastoma. It appears more frequently in the second or third decade with no sexual or racial predilection. It is almost exclusively encountered asymptomatically in the posterior mandible. The following report of two cases discusses the pathophysiology, demographics, histology, and prognosis of the unicystic ameloblastoma.

Adult↗

PubMed2005

[A preliminary study of angiographic classification and treatment of central arteriovenous malformations in jaws].

OBJECTIVE: To elaborate on the angiographic classification of central arteriovenous malformations (AVMs) in jaws, and to evaluate the correlation between this classification and treatment options. METHODS: X-ray films and angiograms of 25 cases with AVMs in the jaw were retrospectively reviewed to evaluate the appearance of radiolucency, feeding arteries, nidus of the malformations and draining veins. Based on the findings a classification of angioarchitecture was recommended. Furthermore, the treatment results of these cases were reviewed to assess the correlation between this classification and treatment options. RESULTS: The angiographic pictures of 25 cases with central AVMs could be divided into five types: type I (n = 5) was with merely diffused micro-arteriovenous fistulas (AVFs); type II (n = 8) demonstrated a large venous pouch, all the feeding arteries drained into it; type III (n = 7) had a large venous pouch together with diffused micro-AVFs (I + II); type IV (n = 2) had multiple venous pouches; type V (n = 3) had multiple venous pouches and diffused micro-AVFs (I + IV). The angioarchitecture corresponded well to the radiographic appearance in all except one case. With respect to the treatment, type II, III, IV AVMs gained clinical cure in 100% of cases, whereas type I and type V AVMs obtained clinical cure only in 3 of 5 and 1 of 3 cases respectively. CONCLUSIONS: Central AVMs in jaws exhibited variant patterns of angioarchitecture, which could be divided into five types. Elaboration of this classification was helpful for decision-making on choosing appropriate therapy.

Adolescent↗

PubMed1987

Pathology of nasopharyngeal carcinoma. Proposal of a new histologic classification correlated with prognosis.

To establish a new histologic classification with better correlation with patient prognosis, the histologic features of nasopharyngeal carcinoma (NPC) were correlated with prognosis and clinical stage among 494 patients who had been followed a minimum of 5 years after initial radiotherapy. A slight modification of World Health Organization (WHO) classification by the separation of spindle cell variant from the nonkeratinizing (NK) and undifferentiated carcinomas (UD) provided a better prognostic correlation: keratinizing squamous cell carcinoma (KS), spindle cell carcinoma (SP), round cell carcinoma (RC), and mixed cell carcinoma (Mix, or NK); 5-year survival rates were 21%, 41%, 51.8%, and 54%, respectively. This prognostic distinction was further improved by dividing the three nonkeratinizing carcinomas (SP, RC, and Mix) into two subtypes each, according to the degree of cell anaplasia and pleomorphism: Type A (with marked anaplasia and/or pleomorphism), and Type B (with moderate or little anaplasia). The three Type A carcinomas had very similar 5-year survival rates (33.3 to 38.6%), as did the three Type B carcinomas (60% to 71.8%). Therefore, a working formulation for the malignancy of NPC emerged: high-grade malignancy (KS; 5-year survival, 21%), intermediate malignancy (Type A carcinomas, 5-year survival, 30%-40%), and low-grade malignancy (Type B carcinomas, 5-year survival rate, 60%-72%). The prognostic distinction remained true after stratification by clinical stage. Therefore, the histologic condition of the tumor of NPC correlated with patient's prognosis.

Adolescent↗

PubMed1995

[Clinical significance of alkaline phosphatase isozyme analysis].

Six bands with alkaline phosphatase (ALP) activity can be detected by electrophoresis using cellulose acetate membrane. From the anodic side, they are high molecular weight ALP (ALP1), hepatic ALP (ALP2), bone ALP (ALP3), placental ALP (ALP4), intestinal ALP (ALP5) and IgG bound ALP (ALP6). Variant ALP (ALP1) can also be detected by the use of polyacrylamide gel. Identification or quantitative measurement of each isozyme is possible by using heat inactivation, various inhibitors, gel filtration, immunoassay, etc. This report describes the method of classification of ALP isozymes, the clinical significance of each isozyme, and change in ALP isozymes in various pathological states.

Alkaline Phosphatase↗

PubMed2025

Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden.

PURPOSE: Genomic structure of copy-number gains is critical for their clinical interpretation but cannot be determined by chromosomal microarray (CMA) analysis, which does not provide information about chromosomal location and orientation of multiplied regions. We thus hypothesized that in CMA testing gains have higher probability than losses to be classified as variants of uncertain significance (VUS) and that structural information from optical genome mapping (OGM) may improve their interpretation. METHODS: Using a χ2 test, we assessed the association between classification of copy-number variants as VUS and their type (gains vs losses) in a cohort of 4073 CMA cases. Thirty-three VUS gains involving disease-associated genes were characterized by OGM to evaluate if OGM data enable their more conclusive clinical interpretation. RESULTS: The proportion of variants reported as VUS compared with likely pathogenic/pathogenic was significantly higher for gains than losses, confirming their increased VUS burden. OGM successfully determined genomic structure for all 33 copy-number gains, showing that 26 of 33 were tandem duplications and 7 of 33 were complex rearrangements. Structural information facilitated clinical interpretation in majority of the cases; it supported benign nature for 27 of 33 gains and was inconclusive or supported pathogenic role for 6 of 33. An estimated 20% of reported VUS gains would not have been reportable if we had OGM data. CONCLUSION: We illustrate a specific advantage of OGM compared with CMA: in addition to detecting both copy-number variants and balanced rearrangements, OGM improves clinical interpretation of copy-number gains by providing structural information and is thus expected to significantly decrease their VUS burden.

Humans↗

PubMed1997

Recent progress in lymphoma classification.

In the Revised European-American list of lymphoid neoplasms recently proposed by the hematopathologists of the International Lymphoma Study Group, the disease entities currently recognized in the literature among the B-cell and T/natural killer (NK)-cell lymphomas and leukemias and variants of Hodgkin's disease are collected and defined. This proposal is here to stay. The main challenge for the future is to present the information in this list in a form that facilitates the understanding, learning, and teaching of these disorders. A meaningful classification for clinical use has already been built on the foundation provided by this list, through the agreement of an international group of clinicians. Newer data confirm the clinical validity of many categories in the list. Others suggest the need for additions or possible changes. To be discussed, among the latter, are: a need for a better definition of the new category of lymphoplasmacytic lymphoma; the variants of mantle-cell lymphoma and their correlation with genomic abnormalities; the need for a clarification of the relationship among the variants listed as "marginal zone B-cell" lymphomas; the subclassification of large B-cell lymphomas; and the coming of age of the NK-cell lymphomas.

Humans↗

PubMed2026

Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia.

Reliable detection of structural variants (SVs) and copy number variations (CNVs) is crucial in the contemporary diagnostics of pediatric B-cell acute lymphoblastic leukemia (B-ALL). However, limitations of commonly used conventional and molecular cytogenetic methods may hinder the accurate genetic characterization of patients. Optical genome mapping (OGM) offers a reliable alternative by enabling high-resolution, genome-wide detection of CNVs and SVs. Chromosomal aberrations were screened using OGM in 51 children with B-ALL. The results were compared with those of karyotyping, fluorescence in situ hybridization (FISH), digital multiplex ligation-dependent probe amplification (digitalMLPA), and targeted RNA sequencing (RNA-seq). OGM data showed high congruency with karyotyping and FISH findings, detecting clinically relevant variants beyond G-banding results and unraveling a complex KMT2A fusion undetected by FISH. Gene fusions involved in complex ETV6::RUNX1 translocations, but not detected by RNA-seq, were confirmed using FISH. Normalization of OGM copy number values with DNA-index-improved concordance with FISH-derived copy numbers in near-tri/tetraploid cases. In the peripheral regions of OGM variants (fringe-zones), a novel evaluation strategy called 'FriZone' was applied, which significantly improved the concordance between OGM and digitalMLPA. In addition, a co-segregation analysis revealed strong associations between ETV6::RUNX1 fusion and deletions of ETV6, RAG2, and NR3C2. OGM uncovered complex rearrangements undetected by widely used methods in 15% of cases, improving genetic classification and risk stratification in 10% of the patients. The FriZone analysis and normalization by DNA-index provide a refined, more accurate approach to OGM variant interpretation, facilitating the efficient application of OGM in clinical diagnostics. © 2026 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.

Humans↗

PubMed1993

Sertoli-Leydig cell tumors of the ovary: review with emphasis on historical aspects and unusual variants.

Among the many contributions to gynecological pathology of Dr. Robert Meyer were his observations on Sertoli-Leydig cell tumors and the formulation of a classification of them that is the basis of the one used today. Selected variants in this category of tumors are reviewed here. Sertoli cell tumors are of interest clinically because, in contrast to other tumors in this category, they tend to be estrogenic rather than androgenic. They are important for the pathologist to be aware of, because other neoplasms of diverse types may mimic them. Heterologous Sertoli-Leydig cell tumors are noteworthy; since they may feature mucinous epithelium, carcinoid, skeletal muscle, and/or cartilage, they may present a confusing histologic picture that could result in a misdiagnosis. Similarly, the recently recognized retiform variant of Sertoli-Leydig cell tumor is apt to be misdiagnosed because its pattern of slit-like glandular spaces and papillae is often confused with tumors in the common epithelial category. These retiform lesions are also less often androgenic than are other Sertoli-Leydig cell tumors. Finally, neoplasms with bizarre nuclei and tumors that occur in pregnancy, which often have prominent intercellular edema, are briefly discussed.

Adult↗

PubMed1997

Pathological variants of basal cell carcinoma.

Although the pathological features of basal cell carcinoma are well known, there is no generally agreed classification of the subtypes of this tumour. Certain histological subtypes are associated with indistinct clinical margins, inadequate primary excisions and frequent recurrences, and these must be recognized and reported by pathologists so that the most appropriate therapy is given. The current classification of subtypes of basal cell carcinoma is discussed and reference made to the rarer forms of this tumour.

Biopsy, Needle↗

PubMed1998

Large granular lymphocytosis.

BACKGROUND AND OBJECTIVES: An increased number of granular lymphocytes (GL) has been reported in various clinical conditions and is currently interpreted as a reactive process to an underlying antigen stimulation. In recent years, a disease characterized by a definite increase in granular lymphocytes has been identified and recognized as lymphoproliferative disease of GL (LDGL). The aim of this study is to review the clinical, biological and pathogenetic mechanisms leading to this disorder. DESIGN AND METHODS: Criteria for the diagnosis, immunologic and molecular evaluation, clinical features and new therapeutic approaches are reviewed. RESULTS: More than 500 patients have been adequately reported in the literature. Immunologic classification of this disease distinguishes a CD3+ form which is more common, and a CD3- variant; this latter accounting for nearly 15% of LDGL cases. CD3+ LDGL is symptomatic in approximately 50% of cases, neutropenia, infections and anemia being the most frequent findings. Clonality of the T-cell receptor is usually documented in these patients. Cytokines such as IL-2, IL-12 and IL-15 have been claimed to play a role in this disorder. Symptomatic patients may benefit from combination therapy with low dose methotrexate and steroids. CD3- LDGL are usually associated with viral infection of GL: in particular, Epstein Barr and human T lymphotropic virus I/II have been claimed to play a role. Neutropenia is usually less pronounced than in CD3+ LDGL patients. Clonality has rarely been demonstrated; however, when present, it correlates with an aggressive clinical course. Spontaneous regression of lymphocytosis has been reported in both CD3+ and CD3- patients. INTERPRETATION AND CONCLUSIONS: Lymphoproliferative disease of granular lymphocytes is a well recognized disorder which encompasses a large spectrum of conditions, ranging from mild asymptomatic lymphocytosis to aggressive, usually fatal, disorders. Diagnosis of this disease is related to the demonstration that a discrete subset of GL is chronically expanded. Therapy should be delayed in asymptomatic patients; however, when needed, the combination of methotrexate or cytoxan and steroids represents the best approach.

Humans↗

PubMed2003

Updated classification of hemangiomas and other vascular anomalies.

Vascular anomalies comprise a widely heterogenous group of tumors and malformations. Great confusion has arisen because of the term hemangioma has been and is continued to be used to represent a multitude of vascular entities. This review presents the updated classification of vascular anomalies with the goal of clarifying the term hemangioma. In addition, newer clinical concepts in hemangiomas and other vascular tumors is presented. Hemangioma subtypes and hemangioma variants are also discussed, and a brief review of pyogenic granuloma and Kaposiform hemangioendothelioma is provided. Finally, the immunohistochemical marker GLUT1 is reviewed, a marker that heralds a new era in vascular anomalies research.

Cardiovascular Abnormalities↗

PubMed2006

Multilocular cystic renal cell carcinoma : a report of 45 cases of a kidney tumor of low malignant potential.

The 2004 World Health Organization (WHO) classification of kidney tumors recognizes multilocular cystic renal cell carcinoma (MCRCC) as a rare variant of clear cell renal cell carcinoma with a good prognosis. Available information on its clinical significance is limited. The study cohort included 45 MCRCC cases classified according to 2004 WHO criteria obtained through a multi-institutional international search. Most patients had unilateral MCRCC with no side predominance that was found incidentally; 62% were men, but women had tumors at an earlier age (P = .385). MCRCC occurred slightly more often in men than in women (1.7:1). At diagnosis, 82% of patients had stage T1 and 16%, stage T2; 1 patient had stage T3. The Fuhrman grade was 1 (62%) or 2 (38%), with smaller tumors (<or=4 cm) most likely Fuhrman grade 1 (P = .911). All 45 patients were alive with no evidence of disease at mean follow-up of 66.1 months, confirming an extremely good prognosis after surgery and a 5-year disease-specific survival rate of 100%. To rename this tumor as multilocular cystic renal cell neoplasm of low malignant potential might help urologists approach the patients conservatively.

Adult↗

PubMedDate not supplied

[Clinico-morphologic basis for the orthodontic treatment of intra-alveolar tooth fractures in children and adolescents].

Analyzed were the results of treatment of 115 teeth with intraalveolar root fractures in 78 patients aged 8 to 18 years. Histological investigation was performed in 8 teeth extracted for clinical indications. Combined with the results of experiments conducted on 12 dogs, this allowed to establish that several variants of cicatrization were possible. An addition was offered to the classification of intraalveolar fractures. Orthopedic technique was designed on the basis of the pathogenesis of the lesion.

Adolescent↗

PubMed1989

A comparison of the clinical variations of the iridocorneal endothelial syndrome.

Iridocorneal endothelial syndrome is generally considered to have three major variations: Chandler's syndrome, progressive (essential) iris atrophy, and the Cogan-Reese syndrome. To better understand the clinical significance of this classification, we studied the medical records of 37 consecutive patients from our practice, comparing the presentation and course of the three subgroups. Chandler's syndrome was the most common clinical variant within this spectrum of disease (21 cases). Patients with Chandler's syndrome had more severe corneal edema than the rest of the group, while those with progressive iris atrophy (8 cases) or the Cogan-Reese syndrome (8 cases) had worse secondary glaucoma.

Adult↗

PubMed1998

Expression of CD44 variant proteins in adenocarcinoma of Barrett's esophagus and its relation to prognosis.

BACKGROUND: None of the commonly used staging criteria accurately determine the prognosis of a patient with adenocarcinoma of Barrett's esophagus. The authors therefore assessed the expression pattern and prognostic impact of CD44 standard and CD44 isoforms CD44v4, v5,v6,v7, and v10 in adenocarcinoma of Barrett's esophagus. METHODS: Specimens from 41 patients with adenocarcinoma of Barrett's esophagus who underwent esophageal resection were embedded in paraffin and studied immunohistochemically to determine the expression of CD44 splice variants. Histomorphologic parameters and survival time were not known at the time of the investigation. RESULTS: Correlations between favorable clinical or histomorphologic parameters and CD44s or any of the split variants could not be established. Down-regulation of CD44s and the split variant v10 was significantly correlated with pT classification. Furthermore, down-regulation of CD44v10 and up-regulation of CD44v7 were significantly correlated with ploidy. There was a significant correlation between CD44s and split variants in tumorous and nontumorous tissue from the same patient. Down-regulation of CD44s and CD44v4 had a significant influence on prognosis in that it was associated with shortened life expectancy. Multivariate analysis revealed that the expression of CD44v4 was an independent factor in prognosis. CONCLUSIONS: The results obtained for this small patient sample suggest that CD44v4 is a new independent prognostic parameter for adenocarcinoma of Barrett's esophagus that can be determined preoperatively by biopsy. It may therefore be helpful in planning therapy by allowing the identification of patients who may benefit from esophageal resection as well as those who are at high risk for morbidity and mortality even when the tumor is otherwise resectable. Further studies of larger patient samples are required to validate the results of the current study.

Adenocarcinoma↗

PubMed1996

[Rare variants of cutaneous T-cell lymphomas].

Besides the classical forms of cutaneous T-cell lymphoma (C-CTCL), such as mycosis fungoides and Sézary's syndrome, unique variants may be encountered. The classification of these rare cutaneous T cell lymphomas is problematic and controversial. Newer classifications of lymphoma in general, such as the Revised European-American Lymphoma (REAL) Classification, emphasize well-established clinico-pathological entities. It seems appropriate to attempt to bring greater clarity to the classification of cutaneous T-cell lymphomas using the same principles. In this review, we list and characterize the rare variants of cutaneous T-cell lymphoma, such as (1) clinical, histological and immunological variants of mycosis fungoides; (2) progressive cutaneous T-cell lymphoma (P-CTCL) including transformed classical cutaneous T-cell lymphoma (TC-CTCL) and primary progressive cutaneous T-cell lymphoma (PP-CTCL); (3) angiocentric and angioimmunoblastic cutaneous T-cell lymphomas; (4) large cell anaplastic, CD30+ cutaneous T-cell lymphoma; (5) HTLV-I-associated adult T-cell leukemia/lymphoma (ATLL); (6) cutaneous manifestations of primary extracutaneous T-cell neoplasias; (7) unclassifiable cutaneous T-cell lymphoma.

Antigens, CD↗

PubMed1977

Swan neck deformity in rheumatoid arthritis of the hand.

Swan neck deformity is not a single entity. Significantly different types of swan neck deformity are found, each demanding careful clinical evaluation and specialised treatment. This paper discusses the pathomechanics of swan neck deformity and presents a classification upon which rational treatment can be based. The surgical treatment of each variant is briefly outlined.

Arthritis, Rheumatoid↗