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PubMed1984

8;21 translocation in acute granulocytic leukaemia: cytological, cytochemical and clinical features.

Thirty patients with the 8;21 translocation and three with closely related variants have been studied. Ages ranged from 3 to 64 years (mean 28.3). Thirty-one were entered into the MRC's 8th Acute Myeloid Leukaemia Trial. Twenty-nine (88%) achieved complete remission. Marrow smears from most patients showed granulocytic maturation (M2, FAB classification) with characteristic abnormalities, but at least six showed predominantly myeloblastic (M1) morphology. The blast cells were markedly heterogeneous with regard to size and nuclear cytoplasmic ratio. Typical staining patterns were observed in the blast cells using Sudan black B and diaminobenzidine peroxidase stains, and to a lesser extent with periodic acid-Schiff and chloroacetate esterase. Butyrate esterase was negative in all cases. Auer rods were present in the granulocyte precursors in 31 cases and in eosinophil precursors in two cases. In most cases the existence of the translocation was predicted from the cytological and cytochemical findings. Seven patients developed solid leukaemic deposits, principally in the mastoid cavities, orbital cavities or thoracic spine (extradural).

Adolescent↗
PubMed1981

[Detection and analysis of clinico-pathogenetic variants of the labile stage of hypertension using mathematical methods of image recognition].

The method of cluster analysis was used for automatic classification of patients with the labile stage of hypertensive disease according to 15 parameters reflecting the condition of hemodynamics and its regulation. Two groups differing in the principal factors of high arterial pressure maintenance were distinguished. Clinical and physiological analysis of the distinguished groups was conducted on the basis of the furosemide test.

Adult↗
PubMed1991

[Automated diagnosis of vibration disease].

Based on a multidimensional discriminant analysis of the clinical and physiological characteristics derived as a result of examination of 593 miners, classification functions were plotted, allowing the diagnosis of vibratory disease in the automatic mode by means of mathematic computations. Functional indicators of skin sensitivity, particularly vibratory, dynamometry, rheovasography and thermography of the hand and fingers, a "white spot" symptom, and characteristics derived on a mathematic analysis of heart rhythm were established to be informative for automated diagnosis. The diagnosis was found to be more accurate in case of using a two-stage variant of the discriminant analysis where the differentiation is first made between healthy workers and workers with a pathology, followed by the discrimination of the preclinical and clinical phase of the disease. The automated diagnostic system is demonstrated to compare very favourably with the conventional method of diagnosis.

Arctic Regions↗
PubMed1997

Conceptualization and treatment of bowel obsessions: two case reports.

Bowel obsessions have long been recognized in clinical settings, usually presenting as an overwhelming fear of losing bowel control in public. Conceptual issues with regard to this disorder have hampered treatment efforts. For example, disagreement exists as to its proper classification within the spectrum of anxiety disorders: it has been conceptualized both as a variant of obsessive-compulsive disorder and as a symptom of social phobia, panic disorder, and agoraphobia. In addition, the comorbidity of bowel obsessions and functional bowel disorders such as irritable bowel syndrome is not understood. While reports of pharmacological intervention exist, little has been written about psychological treatment techniques. This paper uses two cases studies of successful behavioral treatment of bowel obsessions as illustrations to address the above issues.

Adult↗
PubMed2026

Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting.

There is a growing international need to support somatic genomic testing, standardised variant curation and improved patient access to molecular profiling for somatic conditions, including cancer. We conducted a survey of scope, curation, reporting and sharing practices of diagnostic laboratories performing somatic testing in Australia and New Zealand. Laboratories with accreditation (n = 41) were invited in 2023 to complete a semi-structured, 25-question interview. Responses were received for 27 laboratories (66% response rate) offering solid tumour, haematological malignancy and non-cancer services. Only 36% of laboratories offered tests capturing the full breadth of variants, from single-nucleotide variants to gene fusions. Knowledge sharing was rare, with only one laboratory submitting variant classifications to a public knowledge base. Most laboratories (96%) conducted somatic testing in oncology. Of cancer laboratories, 35% offered testing considered capable of comprehensive genomic profiling (CGP). Almost half of cancer laboratories had already adopted the 2022 ClinGen/CGC/VICC oncogenicity guidelines, and 84% were using AMP/ASCO/CAP 2017 clinical significance guidelines. Only 47% of mixed discipline cancer laboratories reported biomarkers such as tumour mutational burden, with wide variation in reporting of matched therapy options. Our study has generated a unique overview of somatic laboratory practices in the region, and areas for global standardisation in somatic molecular testing and reporting. We also provide a model for practice and guideline uptake assessment, for application by other country-wide networks. This is particularly relevant in anticipation of CGP mainstreaming, with the increasing complexity of sequencing interpretation for laboratories and clinicians.

Humans↗
PubMed1982

Genetic markers for schizophrenic subgroups.

By the study of hereditary serum protein markers in psychotic patients and normal controls, a surplus of Gc 1-1 (p less than 0.01) and transferrin B variants (p less than 0.0027) has been established in schizophrenias. Affective psychoses are characterized by an excess of the haptoglobin (Hp) serum type 2-2 (p less than 0.001). These general statements have to be modified in regard to the clinical and psychopathological subdivision beyond the traditional classification into two major groups of endogenous mental disease. Using Leonhard's criteria, the prevalence of Gc 1-1 is restricted to the systematic schizophrenias reaching its highest value in hebephrenias, which are followed by paraphrenic and catatonic forms in this trait. In contrast to this, periodical catatonia and affective paraphrenia, classified as subgroups of the unsystematic schizophrenias, have Gc 1-1 frequencies like healthy controls. On the other hand, the Hp 2-2 value is not increased in the systematic schizophrenias, but it displays a relative overplus in the unsystematic forms. Concerning the Hp 2-2 and Gc 1-1 frequencies a certain similarity can be observed between affective paraphrenia and the paranoid psychoses with late onset, it they are characterized by a cyclic axis syndrome as described by the Vienna school. The cycloid psychoses are marked by an extreme surplus of Hp 2-2 (p less than 0.001) and an overweight of Gc 1-1 (p less than 0.05). Probably the Gc and Hp alleles play a role as risk factors or accidental effectors in the multifactorial genetic systems responsible for the biological background of psychoses. For both serum systems a selective interaction is discussed considering the vitamin D transport by the Gc proteins with the relation to neuronal consolidation and the possible influence of Hp 2-2 on transport and receptor functions.

Alpha-Globulins↗
PubMed1996

The variant forms of autoimmune hepatitis.

OBJECTIVES: To review the diagnostic criteria for autoimmune hepatitis, to characterize the variant forms of autoimmune hepatitis, and to indicate appropriate therapies for this condition. DATA SOURCES: A MEDLINE search (1990 to 1995) of the English-language literature, review of a personal library of journals and reprints (1975 to 1995), and review of references selected from the bibliographies of identified articles. Terms used in the MEDLINE search included the names of all autoimmune liver diseases, viral hepatitis and autoimmunity, cryptogenic hepatitis, and overlap syndromes. STUDY SELECTION: All articles that discussed atypical clinical features, mixed diagnostic findings, and variations in treatment response were selected. DATA EXTRACTION: Data were selected from 548 articles. DATA SYNTHESIS: Standardized criteria permit the confident diagnosis of autoimmune hepatitis, but they exclude many patients who have features suggesting autoimmunity. Such patients have findings indicative of both autoimmune hepatitis and another disorder (overlap syndromes) or findings that are inconsistent with the classic definition of autoimmune hepatitis (outlier syndromes). Overlap syndromes include combinations of autoimmune hepatitis and primary biliary cirrhosis, primary sclerosing cholangitis, or chronic viral hepatitis. Treatment of these syndromes requires identification of the predominant disorder and selection of the most appropriate drug regimen. Outlier syndromes include autoimmune cholangitis and cryptogenic chronic hepatitis. Corticosteroids or ursodeoxycholic acid are treatment options for patients with autoimmune cholangitis; corticosteroids can also benefit patients with cryptogenic chronic hepatitis. Grading each clinical feature and developing a composite score can permit comparison of the variants and a determination of the similarity between the variants and autoimmune hepatitis. CONCLUSIONS: Variant forms of autoimmune hepatitis are common. Recognition of them is important in assessing common pathogenic mechanisms, developing effective treatment strategies, and refining classification schemes.

Autoimmune Diseases↗
PubMed2001

[Clinical classification of benign ENT tumor].

The proposed clinical classification of benign ENT tumors is based on division of anatomic regions (the ear, nose, pharynx, larynx) into sections and fragments and allows to assess the spread of any ENT tumor. Moreover, it agrees with TNM classification. The symbols "T" and R are used which denote four variants (T1-4) or R1-4 for the tumor and recurrence, respectively.

Ear Neoplasms↗
PubMed2000

Liposarcoma: new entities and evolving concepts.

Liposarcoma is the most common soft tissue sarcoma and accounts for approximately 20% of all mesenchymal malignancies. In the last decade, the results of several studies have led to the delineation of new variants as well as to the introduction of new concepts, mainly as a result of the fruitful interactions between genetics and pathology. Spindle cell liposarcoma represents an uncommon variant of well-differentiated liposarcoma. It tends to occur in adults and often involves the subcutaneous soft tissue. However, from the observation of a larger number of cases, the anatomic distribution of spindle cell liposarcoma seems to be comparable to that of the other well-differentiated liposarcoma subtypes. Spindle cell liposarcoma tends to recur locally and may dedifferentiate. Morphologically it is composed of a fairly bland neural-like spindle cell proliferation set in a fibrous and/or myxoid background and is associated with an atypical lipomatous component. Great debate has been generated by the introduction of the term atypical lipoma to emphasize the fact that well-differentiated liposarcoma shows risk of local recurrence but no potential for metastasis. In our opinion well-differentiated liposarcoma and atypical lipoma should be considered synonyms that describe lesions identical both morphologically and kayotypically. Dedifferentiated liposarcoma is a distinct type of liposarcoma in which transition from low-grade to high-grade nonlipogenic morphology within a well-differentiated liposarcoma is observed. The transition usually occurs in an abrupt fashion; however, in rare cases it can be more gradual. Recently, it also has been proposed that dedifferentiated liposarcoma should be further classified into low and high grade. Dedifferentiated liposarcoma rarely exhibits heterologous (most often myoid) differentiation. A peculiar "neural-like whorling pattern" of dedifferentiation also has been described recently. Surprisingly, the clinical outcome of dedifferentiated liposarcoma is less aggressive that in other high-grade pleomorphic sarcomas but genetic as well as molecular data exist that may partiallyjustify such a discrepancy. Myxoid and round cell liposarcoma, even if still classified by the World Health Organization as two distinct subtypes, share both clinical and morphologic features. Lesions combining both patterns are very frequent and wide agreement exists in considering round cell liposarcoma as the high-grade counterpart of myxoid liposarcoma. Furthermore, myxoid and round cell liposarcoma share the same characteristic chromosome change. Albeit rare, it has been recently shown that liposarcoma indeed can occur as a primary skin lesion. It often presents clinically as a dome-shaped or polypoid lesion that, histologically, most frequently shows high-grade morphologic features but carries a comparatively good prognosis. Considering currently available data, the most logical classification of liposarcoma is into three main groups: (1) well-differentiated liposarcoma (including adipocytic, sclerosing, inflammatory, spindle-cell, and dedifferentiated variants), characterized by ring or long markers chromosomes derived from the long arm of chromosome 12; (2) myxoid and round cell (poorly differentiated myxoid) liposarcoma, characterized in most cases by a reciprocal translocation t(12;16)(q13;p11); and (3) pleomorphic liposarcoma, characterized by complex karyotypes.

Adult↗
PubMed2004

Gemcitabine, dexamethasone, and cisplatin in patients with recurrent or refractory aggressive histology B-cell non-Hodgkin lymphoma: a Phase II study by the National Cancer Institute of Canada Clinical Trials Group (NCIC-CTG).

BACKGROUND: Gemcitabine has been shown to have activity as a single agent in lymphoma and, when combined with cisplatin, is effective therapy for a number of solid tumors. The authors wished to determine the response rate and toxicity of gemcitabine, dexamethasone, and cisplatin for recurrent or refractory non-Hodgkin lymphoma (NHL). METHODS: Patients with recurrent or refractory diffuse large B-cell NHL or variants (REAL classification), measurable disease, and one previous chemotherapy regimen were eligible. Treatment consisted of gemcitabine 1000 mg/m(2) intravenously (i.v.) on Days 1 and 8, dexamethasone 40 mg orally on Days 1-4, and cisplatin 75 mg/m(2) i.v. on Day 1 (GDP), every 21 days as an outpatient. The primary end point was a response after two cycles. Patients could then proceed to stem cell transplantation (SCT) or receive up to six treatment cycles. RESULTS: Fifty-one eligible patients were evaluable for toxicity and response. The median age of the patients was 57 years (range, 18-84 years) and most had diffuse large-cell lymphoma. After 2 cycles, there were 8 complete responses (CR; 16%) and 17 partial responses (PR; 33%). There was an overall response rate (RR) of 49% (95% confidence interval = 37-63%). The RR afer completion of all protocol chemotherapy (including those who received > 2 cycles of GDP) was 53% (11 CR, 16 PR). Grade 3 and 4 neutropenia occurred in 33% and 39% of patients, respectively. Grade 3 and 4 thrombocytopenia occurred in 24% and 4% of patients, respectively. Seven patients (14%) experienced febrile neutropenia. Of the 35 patients < 66 years, 22 (63%) proceeded to SCT. CONCLUSIONS: GDP is an active regimen in B-cell NHL and can be administered with acceptable toxicity to outpatients. A Phase III trial comparing GDP with standard cisplatin-based chemotherapy is now ongoing through the National Cancer Institute of Canada Clinical Trials Group.

Administration, Oral↗
PubMed2000

Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene.

OBJECTIVE: This study was designed to describe the clinical, histologic, and ultrastructural features of the corneal dystrophy associated with the R124L mutation of the BIGH3 gene. DESIGN: Retrospective clinical and histologic review of a new genetic mutation. PARTICIPANTS: Thirty-four patients from five unrelated French families with corneal dystrophy caused by the R124L mutation of the BIGH3 gene were studied at the clinical, histologic, and ultrastructural levels. Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation). INTERVENTION: The mutational genetic status of the BIGH3 gene was determined for each patient, and the histologic and ultrastructural data available after corneal graft were analyzed. MAIN OUTCOMES MEASURES: Genomic DNA was extracted from peripheral blood leukocytes. Exons 4 and 12 of the BIGH3 gene were amplified by the polymerase chain reaction (PCR), and the PCR products were directly sequenced. RESULTS: All 34 patients with the R124L mutation displayed the clinical, histologic, and electron microscopic features of the dystrophy previously described as a superficial variant of corneal granular dystrophy. Combining molecular genetics with clinical and histologic findings established a clear distinction between the R555Q and R555W dystrophies. CONCLUSIONS: The R124L mutation of the BIGH3 gene is associated with specific clinical and morphologic criteria. This indicates that molecular studies are needed for an adequate classification of corneal dystrophies. All criteria are presently available to segregate the dystrophy caused by the R124L mutation (known as CDB1) from the dystrophy caused by the R555Q mutation (known as CDB2).

Adult↗
PubMed2006

The pathology of renal epithelial neoplasms.

Renal epithelial neoplasms are morphologically diverse and are characterized by distinct genetic abnormalities. In addition, our understanding of these morphologic differences has allowed us to develop a classification scheme that is more in keeping with their clinical behavior. Clear cell carcinoma is the most common type of renal cell carcinoma (RCC) and accounts for the majority of cases that develop metastatic disease. Papillary carcinoma does not constitute a single morphologic, clinical, or genetic entity with some variants being highly aggressive while others are quite indolent. Chromophobe RCC constitutes less than 10% of primary cases and appears to have a more indolent behavior than clear cell or papillary carcinoma. Oncocytomas are benign, but some cases may be difficult to distinguish from eosinophilic variants of chromophobe RCC. RCC, type unclassified, constitutes up to 7% of cases and represents a histologically and clinically heterogeneous category of tumors that does not fit neatly into any of the other well-defined categories. We have entered the era in which pathologists apply their expertise in microscopy and in evaluating antigenic expression in complex cellular systems to aid in the development and characterization of targeted therapy.

Adenocarcinoma, Clear Cell↗
PubMed1975

[Certain practical problems of recognition and treatment of cardiac rhythm disorders].

Having briefly touched upon the problem of terminology and classification of arrhythmias the authors consider the diagnosis and clinical evaluation of some disorders, including the extrasystole (the significance of the extrasystolic interval), ectopic arrhythmias from the region of the atrio-ventricular junction (with simultaneous consistent or transent disruption of the intraventricular conduction), isolated atrial tachycardia, some variants of auricular fibrillation, flutter paroxysms, paroxysms of ventricular tachycardia, with continued auricular fibrillation in particular, and also the earlier described electrocardiographic phenomenon tentatively interpreted as sinistroatrial fibrillation with dextraatrial tachycardia, as well as major types of disrupted condution. The authors give a brief exposure of their views as to the principles of the treatment. Emphasis is placed on the importance of a comprehensive clinical approach to the diagnostic matters and to the evaluation of arrhythmias, as well as to the fundamental need to define more precisely the pathogenesis of the disturbed rhythm in a concrete patient so as to adopt an effective treatment.

Ajmaline↗
PubMed2006

Pontomedullary sulcus infarct: a variant of lateral medullary syndrome.

With the advent of magnetic resonance imaging (MRI) technology, it is now possible to identify and determine the precise location of medullary infarcts. The lateral part of the medulla is most commonly affected by infarction. Classifications of lateral medullary infarcts are usually based on anatomical data, using rostrocaudal and dorsoventral axes to establish correlations with clinical symptoms. Different subtypes of lateral medullary syndrome, depending on location, shape and size of the infarct, have been described in the literature. We report a rare case of a patient presenting with an unusual clinical picture in relation to an infarct specifically located in the lateral part of the pontomedullary sulcus.

Cerebral Infarction↗
PubMed2005

Molecular classification and biomarker discovery in papillary thyroid carcinoma.

Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy, with an incidence of approximately 22,000 cases in 2004 in the USA. Incidence is increasing, with a global estimate of half a million new cases this year. PTC is found in a variety of morphologic variants, usually grows slowly and is clinically indolent, although rare, aggressive forms with local invasion or distant metastases can occur. In recent years, thyroid cancer has been at the forefront of molecular pathology as a result of the consequences of the Chernobyl disaster and the recognition of the role of Ret/PTC rearrangements in PTC. Nonetheless, the molecular pathogenesis of this disease remains poorly characterized. In the clinical setting, benign thyroid nodules are far more frequent, and distinguishing between them and malignant nodules is a common diagnostic problem. It is estimated that 5-10% of people will develop a clinically significant thyroid nodule during their lifetime. Although the introduction of fine-needle aspiration has made PTC identification more reliable, clinicians often have to make decisions regarding patient care on the basis of equivocal information. Thus, the existing diagnostic tools available to distinguish benign from malignant neoplasms are not always reliable. This article will critically evaluate recently described putative biomarkers and their potential future role for diagnostic purposes in fine-needle aspiration cytology samples. It will highlight the evolution of our understanding of the molecular biology of PTC, from a narrow focus on specific molecular lesions such as Ret/PTC rearrangements to a pan-genomic approach.

Adenocarcinoma, Papillary↗
PubMed2001

[Rare and newly described histological variants of cutaneous squamous epithelial carcinoma. Classification by histopathology, cytomorphology and malignant potential].

The histological spectrum of squamous cell carcinoma (SCC) of the skin is presented, including recently mentioned and rarely appearing tumor subtypes. Beside the most frequently occurring common SCC with variable degree of differentiation, the following tumor forms can be identified microscopically: Bowen-SCC, acantholytic SCC, clear cell SCC, spindle cell SCC, keratoacanthoma-like SCC, desmoplastic SCC, neurotrophic SCC, verrucous SCC, adenosquamous carcinoma and basosquamous cell carcinoma. The classification of lymphoepithelioma-like carcinoma as a cutaneous SCC variant is disputed, because epidermal connections are regularly absent and evidence of glandular and follicular differentiation suggest an adnexal origin. Beside the description of distinctive histological and cytomorphological features of each SCC subtype, important differences in malignant behavior and clinical course are emphasized.

Carcinoma, Squamous Cell↗
PubMed1994

Histopathological classification of childhood rhabdomyosarcomas: relationship with clinical parameters and prognosis.

To define a useful and prognostically relevant classification system for rhabdomyosarcomas (RMSs), tissue sections of 113 well-documented, protocol-treated cases were retrieved from the files of the Emma Kinderziekenhuis Amsterdam, the Netherlands, and reclassified by a panel of pediatric pathologists. The following subtypes were recognized: embryonal RMS (n = 66), alveolar RMS (including the solid variant) (n = 16), botryoid RMS (n = 11), embryonal sarcoma (n = 6), and spindle cell RMS (n = 5). Nine cases were classified as RMS not otherwise specified (NOS). The above-mentioned histopathological subtypes correlated significantly with survival (P = .005) in patients with nonparameningeal tumors. Indeed, the best prognosis was observed in patients with spindle cell RMS, embryonal sarcoma, and botryoid RMS (10-year survival rates of 80% to 86%). Patients with embryonal RMS had an intermediate prognosis (10-year survival rate of 55%) and patients with alveolar RMS fared poorly (10-year survival rate of 9%). Survival rate was poor in patients with a localized parameningeal tumor, irrespective of histopathological subtype (10-year survival rate of 33%). Furthermore, this study confirmed the known impact on prognosis of localization (P = .008) and tumor node metastasis (TNM) stage (P = .0005). Classification of RMS subtypes proved to be fairly well reproducible (kappa ranging from 0.47 to 0.85 and percentage of concordance ranging from 50% to 85%). The best agreement was noted in botryoid RMS and the worst in embryonal sarcoma. However, improvement of agreement was noted for the latter subtype during the consecutive classification sessions. In summary, this study shows the strong prognostic value of histopathological subtypes and parameningeal tumor localization.

Child↗
PubMed1989

Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging.

MR and clinical data on 31 patients with posterior fossa CSF collections were analyzed. A clear separation of these patients into classical categories was not possible because of new information obtained from the MR images. We present a new classification of these disorders. The Dandy-Walker malformation, Dandy-Walker variant, and mega-cisterna magna seem to represent a continuum of developmental anomalies of the posterior fossa. A possible embryologic basis for this continuum is suggested. Discrete posterior fossa CSF collections that are clearly separate from the fourth ventricle and vallecula are classified as posterior fossa cysts. Posterior fossa CSF collections that communicate with the fourth ventricle and are associated with cerebellar atrophy are classified as prominent cisterna magna. Both the Dandy-Walker complex and posterior fossa cysts can cause enlargement of the posterior fossa and scalloping of the inner table of the occipital bone. The Dandy-Walker complex presents with seizures, developmental delay, and enlarging head size; it requires CSF diversion when associated with hydrocephalus. Posterior fossa cysts present with symptoms of a posterior fossa mass; they generally require surgical resection. Prominent cisterna magna is a result of degenerative disorders and requires no surgical therapy. This new classification facilitates both diagnosis and therapy of these disorders. MR revealed that disorders previously referred to as the Dandy-Walker malformation, the Dandy-Walker variant, and the mega-cisterna magna actually are not separate entities, but appear to represent steps on a continuum of developmental anomalies of the posterior fossa. Because of this, we suggest a new term, the Dandy-Walker complex, be used to describe this continuum.

Adolescent↗