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PubMedDate not supplied

Specificity of 6q- markers and other recurrent deviations in human malignant salivary gland tumors.

The chromosomal banding patterns in 20 human malignant salivary gland tumors are reported. Abnormal stem-and/or sidelines were observed in 14 cases, and abnormal clones and variant cells in the remaining 6 cases. No less than 8 tumors showed clonal rearrangements involving the long arm of chromosome 6, i.e. terminal deletions with breakpoints in the 6q22-25 region. The possible involvement of c-myb or a putative tumor suppressor gene in the 6q deletions is considered. Other recurrent deviations were loss of the Y chromosome, trisomy 8 and 11q- markers. The combined data from this and previous studies show that most of the rearrangements are not restricted to a certain type of malignant salivary gland tumor, but are seen in several tumor types, indicating a close evolutionary relationship between different malignant salivary gland tumors.

Adult↗
PubMed1986

Proliferative potential of human meningiomas of the brain. A cell kinetics study with bromodeoxyuridine.

Twenty patients with intracranial meningiomas were given a 1-hour intravenous infusion of bromodeoxyuridine (BrdU), 200 mg/m2, at the time of surgery to label tumor cells in the DNA synthesis phase (S phase). The excised tumor specimens were fixed with 70% ethanol, embedded in paraffin, sectioned, and stained by an indirect immunoperoxidase method using anti-BrdU monoclonal antibody as the first antibody. The BrdU labeling index (LI), or S-phase fraction, was determined by counting the number of BrdU-labeled cells in the tissue sections. The average LIs for nonmalignant (11 cases) and histologically malignant meningiomas (seven cases) were 0.45% and 3.9% respectively (P less than 0.05). Two hemangiopericytic variants showed average LIs of 0.53% and 4.1%. Four of seven malignant meningiomas and both hemangiopericytomas were recurrent tumors. Nine of 20 meningiomas had an LI greater than 1%, and six of those nine (67%) were recurrent. Thus, meningiomas with an LI greater than 1% appear to grow faster and recur more frequently than those with LIs less than 1%; the higher LI may indicate biological malignancy. The measurement of BrdU LI in meningioma may prove valuable in establishing the diagnosis of "malignant meningioma."

Adult↗
PubMed2004

Lipomatous hemangiopericytoma of the head and neck: immunohistochemical and DNA ploidy analyses.

BACKGROUND: Lipomatous hemangiopericytoma (LHPC) is a newly described rare soft tissue tumor with unpredictable biologic behavior and is difficult to diagnose by conventional histologic parameters. The molecular analyses of this entity to date are sparse. Only a few cases of LHPC have been reported. Although one case of LHPC in the sinonasal region was briefly reported, this is the first case in the head and neck region with detailed clinicopathologic features and molecular analysis of this entity. METHODS: We reported a case of LHPC in a 55-year-old woman with a slowly growing lesion in the occipital area that was diagnosed by CT and MRI and removed surgically. Immunohistochemical and DNA ploidy analyses were performed. RESULTS: A panel of 16 markers was included for immunohistochemical analysis. Diffuse immunopositivity of CD57 in our case provides supportive evidence that LHPC is linked with HPC because this marker is also present in approximately 50% of conventional HPCs. CD57 should be used in the immunohistochemical panel in any lesion suspected to be LHPC. Furthermore, CD57 along with CD34 and XIIIa is thought to stain for primitive mesenchymal stem cells, suggesting a bimodal/multimodal differentiation of LHPC. By flow cytometry, we found that tumor cells were 100% diploid with the S-phase fraction (SPF) being 3.21%. A significant positive correlation was detected between nuclear proliferating index and SPF (p < 0.001, by Spearman analysis). These findings provide molecular evidence indicating a benign nature of LHPC. CONCLUSIONS: Contrary to the old belief that HPC has an aggressive nature, this variant of tumor looks less aggressive. The patient was followed for 1 year without any evidence of recurrence, supporting our pathologic hypothesis.

Biomarkers, Tumor↗
PubMed1987

Verrucous pseudonevoid melanoma.

A case of an unusual variant of malignant melanoma resembling a papillomatous dermal nevus is presented here. The lesion was initially diagnosed as a Spitz nevus, and recurred locally five months after excision. The features which distinguish this lesion from the more common types of benign dermal nevi include the architectural atypia of the melanocytes, with a tendency for continuous proliferation of single cells along the dermoepidermal junction, as well as the presence of cytologic atypia with large hyperchromatic nuclei and mitoses. Despite its seemingly innocent appearance, distinction of this low-grade variant of melanoma from its benign counterparts is of importance in order to avert the possibility of recurrence and potential metastases.

Adult↗
PubMed1998

Interstitial brachytherapy in soft tissue sarcomas. The Tata Memorial Hospital experience.

BACKGROUND: Soft tissue sarcomas are relatively rare tumors with an aggressive natural history associated with a high propensity for local recurrence following conservative surgery. It accounts for 1.8% of all cancers seen at the Tata Memorial Hospital, Mumbai. Organ preserving surgery and tumor bed brachytherapy have revolutionized the management of soft tissue sarcomas. PATIENTS AND METHODS: One hundred and seventy-seven patients with histologically proven non-metastatic cases of soft tissue sarcomas in the age group of 16 to 79 years (median 41 years) were treated at the Tata Memorial Hospital between January 1983 and December 1992. One hundred and fifty-one patients who had completed a minimum of 24 months of treatment were studied. There were 100 males (66%) and 51 females (33%). The majority had recurrent lesions (70.3%). Extremities were involved in 75% of patients. Spindle cell sarcoma was the major histologic variant (30%). The patients underwent function preserving surgery and temporary afterloading Ir-192 tumor bed brachytherapy with or without external radiotherapy. RESULTS: In patients receiving brachytherapy only, 25 out of 33 (75%) were locally controlled after a median follow-up of 30 months. After successful salvage of local failures the overall local control improved to 82%. Similarly in the patients who received both interstitial brachytherapy and external irradiation, the local control rate after a median follow-up of 40 months was 71% which improved to 86% after successful salvage. The overall treatment related complication rate was less than 1%. The only marginally significant prognostic factor for local control was tumor grade (p = 0.06). CONCLUSIONS: The sequential combination of limited surgery and tumor bed brachytherapy with or without external radiotherapy has been established as an effective alternative to more ablative procedures like amputation. Histologic grade has proven to be a significant factor determining local control.

Adolescent↗
PubMed2002

[Sclerosing epithelioid fibrosarcoma].

The sclerosing epithelioid fibrosarcoma (SEF), defined as an entity by Meis-Kindblom et al. in 1995 [15] is now considered to be a variant of fibrosing fibrosarcomas. It is a rare tumor with an intermediate malignant potential leading to local recurrences in one third and to metastases in about 40% of the cases. We report six cases of this entity. At the time of diagnosis two patients of our series already showed metastases in the lungs. The tumors were located in the deep soft tissue and measured between 2.5 and 17 cm. The histology is characterized by small epithelioid cells that are arranged individually or in cords and nests and set typically in a hyaline sclerotic matrix. By immunohistochemistry, all cases were vimentin positive, however EMA positive cells are also possible. The differential diagnosis includes metastases of carcinoma, benign and malignant soft tissue tumors. The distinction of SEF from fibromatosis, fibrous histiocytomas, ossifying fibromyxoid tumors, clear cell sarcomas, epithelioid sarcomas, synovial sarcomas and extraskeletal osteosarcomas is discussed.

Adult↗
PubMed1998

Long-term follow-up of the clinical relevance of short outer dynein arms in human nasal cilia.

Clinical significance of short outer dynein arms was examined in a long-term follow-up study of 76 patients with various respiratory symptoms. Clinical evaluations, nasal mucociliary transport rate (NMTR) measurement and transmission electron microscopy were performed. Follow-up examinations took place 5-11 years later. In the initial examination four patients and on follow-up seven patients were found to have short outer dynein arms in their nasal mucosal biopsies. Short dynein arms were associated with a slow NMTR, poorly coordinated ciliary beat direction, and clinical symptoms of perennial rhinitis and recurrent sinusitis. Short dynein arms were found to be a significant histologic finding and probably represent a variant of primary ciliary dyskinesia. In some cases short outer dynein arms may be a reversible finding with improving clinical symptoms. It is obvious that at least part of dynein defects are acquired.

Adolescent↗
PubMedDate not supplied

At least three epitopes are recognized by the human repertoire in the hepatitis B virus group a antigen inducing protection; possible consequences for seroprevention and serodiagnosis.

Many recent investigations have shown that both HBV and anti-HBs antibodies coexist in the same patient, and HBV can be found in individuals with anti-HBc antibodies in the absence of immunologically detectable HBsAg. In most cases, mutant forms of HBV affecting the region of the envelope gene coding for the group a determinant recognized by human antibodies have been found. The nature of the group a determinant was revisited with an ELISA involving dissociated, but not alkylated, envelope subunits. No antibody recognizing a continuous epitope of the major S envelope protein could be found in humans; the full activity of human anti-HBs antibodies appeared to be focused on the discontinuous group a determinant. The immunological human repertoire against the HBsAg group a determinant was analysed by competitive inhibition of three mouse monoclonal antibodies (mAbs) selected as recognizing three distinct specificities on the group a determinant. Antibodies to specificities #1 and 3 were found in 52/70 anti-HBs human sera and generally predominated over specificity #2, which was lacking in some sera. The heterogeneity of the group a determinant suggested by these data argue for the use of more than one type of anti-HBs mAb for seroprevention of recurrence after liver transplantation and HBs serodiagnosis. Provided all three types of mAbs characterized here recognize HBV variants with mutations in the a determinant and are virus-neutralizing, it may be helpful, after association of such mAbs, to use them for diagnosis and to devise new immunotherapeutic strategies to prevent emergence of HBsAg escape mutants.

Animals↗
PubMed1997

The sphenoidal sinus in optic nerve decompression.

Surgical decompression of the orbit may be necessary in dysthyroid patients with compressive optic neuropathy. Two-wall decompression with a trans-antral or a trans-conjunctival approach is commonly used. However, in some patients the initial improvement following this surgical procedure is not maintained. Although this may be due to disease progression, a variant of orbital anatomy can contribute to sub-optimal decompression. We report three cases in which recurrence of compressive optic neuropathy occurred following two-wall decompression. The sphenoidal sinus was placed anteriorly in these patients. Further decompression which included the lateral wall of the sphenoidal sinus resulted in improvement. An endoscopic approach provides superior access and visibility for decompression of the optic nerve into the sphenoidal sinus, and this approach may be the surgical treatment of choice in these cases.

Adult↗
PubMed2000

Liver transplantation for hepatic and biliary malignancy.

The treatment of liver cancer by transplantation has evolved into a process of selecting early stage tumors that have a high likelihood of cure. Carefully selected cirrhotic patients with early hepatocellular cancer (< or = 5 cm. diameter and single; < or = 3 cm. diameter if multiple and 3 or fewer lesions; no vascular invasion) have 5-year actuarial survival rates of approximately 75% after transplantation. Preoperative imaging should be as extensive as necessary to accurately define the characteristics of tumor size, location, and number and exclude signs of extrahepatic involvement. Adjuvant and neoadjuvant chemotherapy became part of treatment protocols in many centers at the same time that more stringent criteria for transplant candidacy were applied to patients with cancer, making it difficult to attribute improved results to the chemotherapy. Nevertheless, neoadjuvant chemoembolization for hepatocellular cancer is logical for patients who may wait long periods before receiving transplants. The fibrolamellar variant of hepatoma is a less aggressive tumor and patients can do well after transplantation, but late recurrences are common. Hepatoblastoma in children can respond very favorably to chemotherapy combined with transplantation. Cholangiocarcinoma remains a dreadful malignancy. The rare cases of insitu cholangiocarcioma in patients who receive transplants for sclerosing cholangitis can be cured, but known cholangiocarcinoma has an exceedingly high rate of recurrence after transplantation alone. Recent work combining chemotherapy and radiation with transplantation has not had dramatic success at improving cure rates. Patients with metastatic neuroendocrine tumors of the liver can receive good palliation by transplantation, but the majority of patients eventually develop recurrent cancer.

Biliary Tract Neoplasms↗
PubMed1994

Guillain-Barré syndrome in Cantabria, Spain. An epidemiological and clinical study.

Seventy-one patients with Guillain-Barré syndrome (GBS) were retrospectively selected from within a defined area (Cantabria) in northern Spain, from 1975 to 1988. Excluding two non-resident cases, epidemiological analysis was based on 69 cases. The annual incidence rates were stable during the 14-year period of study with an average incidence of 0.95 (age-adjusted, 0.86) cases per 100,000 population. No significant difference was found for sex, urban or rural residence and there was no significant seasonal clustering. Antecedent event were recorded in 57% of patients, the most frequent events being upper respiratory infection and gastroenteritis. No association between use of gangliosides and the syndrome was found. Eight patients had variant syndromes including Fisher's syndrome (2 cases), and axonal (4 cases) and sensory (2 cases) GBS. Recurrences occurred in 3 cases. Excluding nine patients with incomplete follow-up and two with Fisher's syndrome, clinical analysis was based on 60 cases. Patients were divided into three groups as a function of their peak weakness. Significant features of the severe group were a requirement for ventilation, presence of bulbar palsy or dysautonomia and a longer duration of the plateau phase. However, it was not possible at an early stage of the clinical course to predict future motor deficit. Four (6.7%) patients belonging to the severe group died during the acute phase of the disease. No specific treatment for GBS was given. Outcome was assessed by means of serial examination up to 24 months after the onset of symptoms using a functional scale. At 3, 6 and 24 months 70%, 46% and 12% of patients, respectively, had a poor outcome.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2005

SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas.

Epithelioid sarcoma is a rare soft tissue neoplasm of uncertain lineage that usually arises in the distal extremities of adults, presents a high rate of recurrences and metastases and frequently poses diagnostic dilemmas. The recently reported large-cell "proximal-type" variant is characterized by increased aggressiveness, deep location, preferential occurrence in proximal/axial regions of older patients, and rhabdoid features. Previous cytogenetic studies indicated that the most frequent alterations associated with this tumor entity affect chromosome 22. In this study, combined spectral karyotyping, fluorescence in situ hybridization, and array-based comparative genomic hybridization analyses of two proximal-type cases harboring a rearrangement involving 10q26 and 22q11 revealed that the 22q11 breakpoints were located in a 150-kb region containing the SMARCB1/INI1 gene, and that homozygous deletion of the gene was present in the tumor tissue. The SMARCB1/INI1 gene encodes for an invariant subunit of SWI/SNF chromatin remodeling complex and has been previously reported to act as a tumor suppressor gene frequently inactivated in infantile malignant rhabdoid tumors. We analyzed SMARCB1/INI1 gene status in nine additional epithelioid sarcoma cases (four proximal types and five conventional types) and altogether we identified deletions of SMARCB1/INI1 gene in 5 of 11 cases, all proximal types. We confirmed and further extended the number of cases with SMARCB1/INI1 inactivation to 6 of 11 cases, by real-time quantitative PCR analysis of mRNA expression and by SMARCB1/INI1 immunohistochemistry. Overall, these results point to SMARCB1/INI1 gene involvement in the genesis and/or progression of epithelioid sarcomas. Analysis of larger series of epithelioid sarcomas will be necessary to highlight putative clinically relevant features related to SMARCB1/INI1 inactivation.

Adult↗
PubMed2006

Familial cervical artery dissections: clinical, morphologic, and genetic studies.

BACKGROUND AND PURPOSE: Genetic risk factors are thought to play a role in the etiology of spontaneous cervical artery dissections (CAD). However, familial CAD is extremely rare. In this study we analyzed patients with familial CAD and asked the question whether familial CAD has particular features. METHODS: Seven families with 15 CAD patients were recruited. All patients were carefully investigated by a neurologist, a neuroradiologist, and a dermatologist for clinical characteristics. From 11 patients a skin biopsy was performed to study the morphology of the connective tissue and to analyze the coding sequences of COL3A1, COL5A1, COL5A2, and part of COL1A1. RESULTS: The mean age of the patients (n=15, 9 women) at their first dissection was 36.2 years (median age 32 years, range 18 to 59). Two patients had bilateral CAD. One patient had a right and a left internal carotid artery dissection in successive weeks, another patient had 5 dissections over a period of 8 years. A high intrafamilial correlation was found between the affected vessels (ie, the carotid and the vertebral arteries) and between ages at the first dissection. In 1 patient we found clear and reproducible ultrastructural abnormalities in the skin biopsy, but the second patient from the family was not studied, because he died as a result of CAD before this study. The dermal connective tissue aberrations in the examined patient were similar to mild findings in patients with vascular Ehlers-Danlos syndrome (EDS type IV), but might be iatrogenic and related to long-term corticosteroid inhalation therapy. All other analyzed patients showed normal connective tissue morphology. In patients from 6 families we analyzed the whole coding sequence of COL3A1, COL5A1, and COL5A2, and from part of COL1A1. A missense mutation in the COL3A1 gene (leading to a G157S substitution in type III procollagen) was detected in both patients from 1e family. Two patients from another family carried a rare nonsynonymous coding polymorphism in COL5A1 (D192N); 1 of them carried also a rare variant in COL5A2 (T12337). CONCLUSIONS: Familial CAD patients are young and probably are at high risk for recurrent or multiple CAD. Ultrastructural alterations of the dermal connective tissue might not be an important risk factor for familial CAD. However, the finding of a COL3A1 mutation revealed the presence of an inherited connective tissue disorder in 1 family.

Adolescent↗
PubMed2001

Congenital-infantile fibrosarcoma. A clinicopathologic study of 10 cases and molecular detection of the ETV6-NTRK3 fusion transcripts using paraffin-embedded tissues.

Congenital-infantile fibrosarcoma (CIFS) is a relatively indolent sarcoma that should be distinguished from more aggressive spindle cell sarcomas of childhood. CIFSs have been found to have a novel recurrent reciprocal translocation t(12;15)(p13;q25) resulting in the gene fusion ETV6-NTRK3 (ETS variant gene 6; neurotrophic tyrosine kinase receptor type 3). We studied immunohistochemical expression of NTRK3, and conducted a reverse transcription-polymerase chain reaction (RT-PCR) assay to detect the ETV6-NTRK3 fusion transcripts using archival formalin-fixed paraffin-embedded tissues from 10 CIFSs. Thirty-eight other spindle cell tumors were included as controls. The ETV6-NTRK3 fusion transcripts were identified in 7 (70%) of 10 CIFSs. Nucleotide sequence analysis showed that the fusion occurred between ETV6 exon 5 and NTRK3 exon 13. The 38 control tumors were negative for the fusion transcript. Immunohistochemically, CIFSs consistently expressed NTRK3. But the expression of NTRK3 also was observed in 22 of 38 control tumors. These results show the diagnostic usefulness of RT-PCR methods to detect ETV6-NTRK3 fusion transcripts in archival formalin-fixed paraffin-embedded tissue and the important role of NTRK3 in the development of CIFS, despite its being a protein of little importance in differential diagnosis.

Child↗
PubMed1996

Epileptiform electroencephalographic patterns.

Electroencephalography (EEG) is the most useful test for assessment of patients with epilepsy. It can help establish the diagnosis of epilepsy and determine the type of seizure disorder and its site of origin. Epileptiform abnormalities in the EEG tracing may be focal or generalized. The main types of focal epileptiform discharges arise from the temporal, frontal, occipital, centroparietal, centrotemporal, and midline regions of the brain. Generalized epileptiform discharges consist of the 3-Hz spike-and-wave, slow spike-and-wave, atypical spike-and-wave, paroxysmal fast activity, and hypsarrhythmic patterns. Status epilepticus is manifested by continuous epileptiform discharges or recurrent seizure activity without interim recovery, which can occur in a generalized or focal manner. Benign epileptiform variants unassociated with seizures can also be present in the EEG. Included in this category are the "14 & 6" positive bursts, small sharp spikes, wicket waves, 6-Hz spike-and-wave discharges, and rhythmic temporal theta activity. The EEG findings should be interpreted in the context of the overall clinical picture.

Electroencephalography↗
PubMed1982

Inflammatory fibrous histiocytoma: an important variant of malignant fibrous histiocytoma highly responsive to chemotherapy.

Inflammatory fibrous histiocytoma is a recently recognized variant of malignant fibrous histiocytoma. Patients managed with surgical excision or radiation therapy usually have had multiple recurrences, often with metastases. The disease is insidious but ultimately fatal. Four consecutive patients were treated with inflammatory fibrous histiocytoma with alkylating agents with or without anthracyclines and produced prolonged and sustained remissions. Inflammatory fibrous histiocytoma may be another highly chemotherapeutically responsive tumor that deserves active case identification for aggressive curative therapy.

Adolescent↗
PubMed1978

[Clinical morphological characteristics of epithelial bladder tumors].

Under study were the clinico-morphological features of epithelial tumors of the urinary bladder in 1452 patients subjected to surgery. There were differentiated three main clinico-anatomical forms of the tumor and its variants: exophitic (87.4%), endophitic (5.5%) and mixed--exophitic-endophitic ones (7.1%). The frequency and terms of recurrence were dependent on the clinico-anatomical form and stage of the tumor and its morphology. The frequency of recurrence of high-differentiated forms of the tumor made 26.9 +/- 3.0%, in low-differentiated and metaplastic forms--45--46%, in anaplastic cancer--62.8% +/- 15.4%.

Adenocarcinoma↗
PubMed1994

A frameshift mutation in Exon V of the A alpha-chain gene leading to truncated A alpha-chains in the homozygous dysfibrinogen Milano III.

An inherited dysfunctional fibrinogen variant, denoted as fibrinogen Milano III, was found in a 13-year-old girl suffering from recurrent venous thrombosis. Plasma of the patient exhibited prolonged thrombin time and Reptilase time. Polymerization of fibrin monomers in the presence and absence of calcium ions was strongly impaired. SDS-polyacrylamide gel electrophoresis of reduced fibrinogen showed normal B beta- and gamma-chains, whereas no normal A alpha-chain was detected in the proposita. Immunoblot analysis with the monoclonal antibody Y18, detecting an epitope within the stretch of amino acids A alpha 1-51, revealed an A alpha-chain of about 50 kDa with an intact amino terminus. Immunoblotting with antibodies directed against serum albumin demonstrated the presence of albumin covalently linked to fibrinogen via a disulfide bridge. The structural defect of fibrinogen Milano III was determined by sequence analysis of a single-stranded fragment of genomic DNA amplified by polymerase chain reaction. An insertion of a thymine in the exon V of the A alpha-chain gene after the triplet ATT coding for IleA alpha 451 altered the reading frame and caused premature termination of the protein synthesis (Trp452(TGG)-Ser453(TCC)-Stop454(TGA)). In both parents, normal and mutant alleles were established, leading to duplication of the sequence pattern after the thymine insertion site, whereas the proposita is homozygous for the new mutation in the fibrinogen A alpha-chain gene.

Base Sequence↗