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PubMedDate not supplied

Clear cell meningioma of the lumbo-sacral spine with chordoid features.

Clear cell meningioma (CCM) is a peculiar variant that differs from conventional meningioma in affecting younger patients, arising more often in spinal or cerebellopontine locations, and showing a higher recurrence rate. Classical meningothelial areas are scarce in these tumors and the differential diagnosis with other neoplasms, particularly metastatic carcinoma, is often difficult. We report a case of clear cell meningioma from the lumbosacral spine in which location, radiologic presentation, light microscopic appearance in initial sampling, and some of the ultrastructural findings were reminiscent of chordoma. The tumor cells were diffusely positive for vimentin and very focally positive for epithelial membrane antigen. Ultrastructural demonstration of interdigitating cell processes joined by numerous desmosomes confirmed the diagnosis of CCM.

Adult↗
PubMed1990

Discoid lupus erythematosus-like lesions in carriers of X-linked chronic granulomatous disease.

A questionnaire was sent to 16 carriers of the X-linked cytochrome-b558 negative variant of chronic granulomatous disease (CGD). Of the 15 who answered the questionnaire and from data of one additional case, 70% reported recurrent aphthous stomatitis and 63% had recurrent skin eruptions. Five of the carriers (31%) had clinically discoid lupus erythematosus (DLE), although the histopathology was not typical and the immunofluorescence findings were negative. The infiltrate in the lesional skin of three of these patients was analysed using monoclonal antibodies against CD3, CD4, CD8, CDIa, HLA-DR, CDIc, interdigitating cells, B lymphocytes and cells of the monocyte/macrophage lineage. The immunophenotype of the infiltrating cells resembled that found in discoid lupus erythematosus.

Adolescent↗
PubMed2001

Radiologic spectrum of cholangiocarcinoma: emphasis on unusual manifestations and differential diagnoses.

Most cholangiocarcinomas are ductal adenocarcinomas that arise from both intra- and extrahepatic bile duct epithelium, and their typical growth pattern can be classified as exophytic, infiltrative, polypoid, or a combination of these. Those of unusual histologic type (eg, mucin-hypersecreting cholangiocarcinoma, squamous adenocarcinoma, biliary cystadenocarcinoma, and mucinous carcinoma) show a growth pattern different from that of the typical ones (ie, ductal). Cholangiocarcinomas frequently develop in patients with any of a variety of preexisting bile duct diseases, some of which are considered precursors of cholangiocarcinoma (eg, biliary lithiasis, clonorchiasis, recurrent pyogenic cholangitis, and primary sclerosing cholangitis). Some bulky hepatic tumors of either primary or secondary origin mimic exophytic peripheral cholangiocarcinoma. Some variants of hepatocellular carcinoma, such as sclerosing, fibrolamellar, and cholangiohepatocellular carcinoma, resemble exophytic peripheral cholangiocarcinoma, while that with intraductal growth resembles polypoid cholangiocarcinoma. Among benign bile duct diseases, tumorous conditions (eg, benign biliary tumors) may mimic polypoid cholangiocarcinoma, whereas benign stricture of various causes (eg, cholangitides, traumatic and postsurgical sequelae, chronic pancreatitis, papillary stenosis) usually mimics infiltrative cholangiocarcinoma.

Bile Duct Neoplasms↗
PubMed2002

Late relapses evolve from slow-responding subclones in t(12;21)-positive acute lymphoblastic leukemia: evidence for the persistence of a preleukemic clone.

TEL/AML1-positive childhood acute lymphoblastic leukemias (ALLs) generally have low-risk features, but still about 20% of patients relapse. Our initial molecular genetic analyses in 2 off-treatment relapses suggested that the initial and relapse clones represent different subclones that evolved from a common TEL/AML1-positive, treatment-resistant precursor. In order to further elaborate on this hypothesis, we studied 2 patients with late systemic relapses of their TEL/AML1-positive ALL (41 months and 49 months after initial diagnosis, respectively) who had distinct clonal antigen receptor gene rearrangements at diagnosis and relapse. These clone-specific markers enabled us to determine the responsiveness of the individual clones to treatment. The matching genomic TEL/AML1 breakpoints of the initial and the relapse clones in these patients confirmed their origin from a common progenitor cell. This proof was especially important in one of these 2 leukemias without a common antigen receptor gene rearrangement. Our retrospective analysis revealed that in both cases the relapse clone was already present at diagnosis. Despite their small sizes (5 x 10(-3) and 1 x 10(-4), respectively), we were able to detect their much slower responses to therapy compared with the dominant leukemic clone. Moreover, in all instances, these initially slow-responding clones, after they had developed into the relapse leukemia, were rapidly eradicated by the relapse treatment, underlining their different biology at the 2 time points of leukemia manifestation. We thus hypothesize that the minor clone was not fully malignant at initial diagnosis but acquired further mutations that may be necessary for the manifestation of relapse.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2003

FLT3 mutations in childhood acute lymphoblastic leukemia.

Activating mutations of the FLT3 receptor tyrosine kinase are common in acute myelogenous leukemia (AML) but are rare in adult acute lymphoblastic leukemia (ALL). We have recently shown that FLT3 is highly expressed and often mutated in ALLs with rearrangement of the mixed lineage leukemia (MLL) gene on chromosome 11q23. Because hyperdiploid ALL samples also show high-level expression of FLT3, we searched for the presence of FLT3 mutations in leukemic blasts from 71 patients with ALL. The data show that approximately 25% (6 of 25) of hyperdiploid ALL samples possess FLT3 mutations, whereas only 1 of 29 TEL/AML1-rearranged samples harbored mutations (P =.04, Fisher exact test). Three mutations are novel in-frame deletions within a 7-amino acid region of the receptor juxtamembrane domain. Finally, 3 samples from patients whose disease would relapse harbored FLT3 mutations. These data suggest that patients with hyperdiploid or relapsed ALL might be considered candidates for therapy with newly described small-molecule FLT3 inhibitors.

Child↗
PubMed1998

Intracranial myxoid chondrosarcoma with early intradural growth.

Chondrosarcomas are extremely rare intracranial cartilaginous tumors of which the myxoid variant is the least reported in the literature. They develop extradurally and generally infiltrate the dura only in advanced stages or at recurrence. We describe the case of a 55-year-old woman with a posterior cranial fossa myxoid chondrosarcoma which had a primarily intradural extension.

Chondrosarcoma↗
PubMed1980

Ergonovine testing in a coronary care unit.

This study describes the results of ergonovine testing in 100 consecutive patients who underwent this procedure in a coronary care unit. All patients had recently undergone coronary arteriography. A bolus injection of ergonovine was administered at 5 minute intervals in the following doses (mg): 0.0125, 0.025, 0.05, 0.1, 0.2, 0.3 and 0.4. The criterion for a positive test was the appearance of S-T elevation greater than 1 mm. The test was positive in all 17 patients known to have variant angina and in 18 (40 percent) of 45 patients who had a history of chest pain judged strongly suggestive of variant angina but who had no electrocardiogram recorded during pain. Of 38 patients with a history of chest pain classified as not entirely typical of variant angina, only 1 (2.6 percent) had a positive test. Of the 64 patients with a negative ergonovine test, 47 had chest pain and 25 had nausea but none had more serious complications. Ventricular arrhythmia accompanied S-T elevation in 18 of the 36 patients with a positive test but occurred in only 4 of the 64 with a negative test (p < 0.0005). No patient needed treatment with antiarrhythmic drugs. Four of the 36 patients with a positive test had serious complications: severe transient hypotension (2 patients), recurrent episodes of angina with S-T elevation (1 patient) and a subendocardial infarction (1 patient). Thus, ergonovine testing is useful in patients with a typical clinical history of variant angina but without an electrocardiogram recorded during pain. In this study, a small but definite incidence of serious complications occurred during a positive test.

Adult↗
PubMed1991

Potentially fatal asthma and syncope. A new variant of Munchausen's syndrome in sports medicine.

We report a case of Munchausen's syndrome in a 19-year-old female college athlete who presented with potentially fatal asthma and recurrent syncopal episodes. Failure to control her asthma with the appropriate medications and the lack of objective findings on both physical examination and diagnostic testing raised the possibility of factitious disease. Munchausen's syndrome, although not described with any frequency in asthmatic patients, should be considered in the differential diagnosis of those patients refractory to aggressive medical management.

Adult↗
PubMed1986

Metastasizing myxopapillary ependymoma of the sacrococcygeal region. A clinico-pathologic, light- and electronmicroscopic, immunohistochemical, tissue culture, and cytogenetic analysis of a case.

A case of recurrent and metastasizing subcutaneous myxopapillary ependymoma of the sacrococcygeal region in a 44-year-old man is reported. The tumor was characterized light microscopically by numerous papillary projections, lined by epithelium-like cells, with a variable degree of polymorphism. Histochemical analysis relating to glucosaminoglycans indicated the presence of hyaluronic acid and chondroitin-4- and/or 6-sulfate. Using immunoperoxidase techniques, glial fibrillary acidic protein (GFAP) and S-100 protein were demonstrated within the tumor cells. Ultrastructurally, the tumor cells were characterized by an abundance of intermediate cytoplasmic filaments, prominent interdigitating cytoplasmic projections, the formation of desmosomes and external lamina-like material. The growth pattern in the tissue culture of this tumor is described, and the ultrastructural appearance of the cultured cells revealed features similar to the primary and recurrent tumor. Chromosome analyses by the G-banding technique of early generations of cultured tumor cells revealed a normal diploid stemline without gross chromosomal deviations. Among the different variant cells and clones recorded, those with X chromosome deviations were of special interest since gonosomal deviations have previously been observed in other types of glioma. The differential diagnosis against adenopapillary carcinoma, chordoma and malignant teratoma is briefly discussed.

Adult↗
PubMed2004

Phase I clinical study of anti-apoptosis protein, survivin-derived peptide vaccine therapy for patients with advanced or recurrent colorectal cancer.

Survivin is a member of the inhibitor of apoptosis protein (IAP) family containing a single baculovirus IAP repeat domain. It is expressed during fetal development but becomes undetectable in terminally differentiated normal adult tissues. We previously reported that survivin and its splicing variant survivin-2B was expressed abundantly in various types of tumor tissues as well as tumor cell lines and was suitable as a target antigen for active-specific anti-cancer immunization. Subsequently, we identified an HLA-A24-restricted antigenic peptide, survivin-2B80-88 (AYACNTSTL) recognized by CD8+ cytotoxic T lymphocytes (CTLs). We, therefore, started a phase I clinical study assessing the efficacy of survivin-2B peptide vaccination in patients with advanced or recurrent colorectal cancer expressing survivin. Vaccinations with survivin-2B peptide were given subcutaneously six times at 14-day intervals. Of 15 patients who finished receiving the vaccination schedule, three suffered slight toxicities, including anemia (grade 2), general malaise (grade 1), and fever (grade 1). No severe adverse events were observed in any patient. In 6 patients, tumor marker levels (CEA and CA19-9) decreased transiently during the period of vaccination. Slight reduction of the tumor volume was observed in one patient, which was considered a minor responder. No changes were noted in three patients while the remaining eleven patients experienced tumor progression. Analysis of peripheral blood lymphocytes of one patient using HLA-A24/peptide tetramers revealed an increase in peptide-specific CTL frequency from 0.09% to 0.35% of CD8+ T cells after 4 vaccinations. This phase I clinical study indicates that survivin-2B peptide-based vaccination is safe and should be further considered for potential immune and clinical efficacy in HLA-A24-expression patients with colorectal cancer.

Journal Article↗
PubMed1988

Eosinophilic histiocytosis. A subset of lymphomatoid papulosis.

A 43-year-old male with a 23-year history of small-plaque-type parapsoriasis developed a chronic recurrent self-healing papulonodular and tumoral cutaneous eruption. The microscopic findings were consistent with eosinophilic histiocytosis. Immunohistochemical and ultrastructural studies revealed a population of T lymphocytes, eosinophils and monocyte-macrophage cells in the dermal infiltrate. These findings confirm the similarities between eosinophilic histiocytosis and lymphomatoid papulosis suggesting that the former may be a clinicopathologic variant of the latter.

Adult↗
PubMed1989

Central odontogenic fibroma, granular cell variant. A case report with S-100 immunohistochemistry and a review of the literature.

We have identified 14 cases that over the last 40 years have been reported under a series of names, most commonly granular cell ameloblastic fibroma. An additional case in the mandibular premolar region of a 45-year-old woman is described. The tumor was conservatively removed and 4 years later shows no evidence of recurrence. On the basis of our examination of the clinical and histologic features of this lesion and a comparison with the previous cases, we agree with the recent suggestion that the tumor should be designated as a central odontogenic fibroma, granular cell variant. By means of S-100 protein immunostaining techniques, the granular cells in this lesion were compared with the granular cell population in a granular cell tumor (myoblastoma) and the mesenchymal component of an ameloblastic fibroma. The results reveal a lack of S-100 protein reactivity in the granular cells of the central odontogenic fibroma and suggest an origin of those cells different from the origin of cells in a granular cell tumor.

Diagnosis, Differential↗
PubMed2005

A case of canine apocrine sweat gland adenoma, clear cell variant.

A cutaneous mass at the base of the retroauricular region of a 4-year-old, female Golden Retriever was examined pathologically. Histologically, the mass formed multiple nodules consisting of a proliferation of large clear cells with abundant cytoplasm. Mitotic figures among the neoplastic cells were very sparse. The large clear cells were intensely positive for cytokeratins (AE1/AE4, cytokeratin 8 and 18) and moderately positive for lysozyme and contained periodic acid-Schiff-positive granules in the cytoplasm. In addition, small flat cells lined the islands of neoplastic large clear cells, and these were strongly positive for alpha-smooth muscle actin and vimentin, and some were positive for cytokeratin (AE1/AE4), suggesting they were myoepithelial cells. No local recurrence or metastasis has been recognized during the 18 months since surgical excision. On the basis of these findings, the present tumor was diagnosed as apocrine sweat gland adenoma, clear cell variant. There have been few previous reports of canine apocrine adenomas showing a clear cell morphology.

Adenoma, Sweat Gland↗
PubMed2001

Sialolipoma: a report of seven cases of a new variant of salivary gland lipoma.

AIMS: We propose the designation 'sialolipoma' to establish and characterize a new category of benign lipomatous tumour occurring in salivary glands. Until now, these tumours have not been regarded as a distinct entity in the salivary glands. METHODS AND RESULTS: We evaluated the clinicopathological and immunohistochemical features of seven sialolipomas among 2051 surgically resected primary salivary gland tumours deposited in our files. The seven patients with sialolipoma were five men and two women, aged 20-75 years (mean: 54.4 years). Five tumours had arisen in the parotid gland, one in the soft palate, and one in the hard palate. The tumours ranged from 10 to 60 mm (mean: 38 mm) in maximum diameter. Histologically, the tumours were characterized by a well circumscribed mass composed of glandular tissue and mature adipose elements. The adipose elements in the tumours arising in the parotid gland were more abundant than those arising in the minor salivary gland. The glandular components consisted of ductal, acinar, basal and myoepithelial cells, and closely resembled the cellular and structural compositions of normal salivary gland tissues. These findings were confirmed by immunohistochemical and ultrastructural studies. These components had no atypia, except for the presence of some minor variations, e.g. ductal ectasia with fibrosis and focal oncocytic metaplasia. In all cases, cell proliferative activity, as assessed by Ki67 (MIB1) immunostaining, was low. From these findings, it is likely that our cases were lipomas with secondary entrapment of the salivary gland elements. No recurrence was seen in all cases after superficial parotidectomy, or after surgical excision in the patients with palatal tumours. CONCLUSIONS: We regard sialolipoma as a distinct variant of salivary gland lipoma that can occur in both the major and minor salivary glands. Superficial parotidectomy, or surgical resection in the case of palatal tumours, is an appropriate treatment for this benign tumour.

Adult↗
PubMed2004

Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology: evidence for genetic heterogeneity.

Endometrial stromal tumors (ESTs), including low-grade endometrial stromal sarcomas (LGESSs) and endometrial stromal nodules (ESNs) of classic histology, exhibit characteristic morphologic features and contain the nonrandom t(7;17)(p15; q21), which results in the fusion of two novel genes, JAZF1 and JJAZ1. ESTs may pose diagnostic challenges when they involve extrauterine sites, present as metastases, or display variant histologic appearances. The aim of this study was to evaluate the frequency of the JAZF1-JJAZ1 gene fusion among primary uterine, metastatic, and primary extrauterine ESTs of various histologic types and its role as a possible diagnostic adjunct. Using a nonnested reverse transcriptase-polymerase chain reaction approach, we assayed for JAZF1-JJAZ1 gene fusion transcripts in 10 cases with available fresh-frozen tissue. These included five primary uterine (two classic, one mixed smooth muscle, and one epithelioid LGESS; one classic ESN), four metastatic (two fibromyxoid, one classic, and one epithelioid LGESS), and one extrauterine (classic LGESS) tumor. The same primer set and assay conditions were used on five additional paraffin-embedded cases with adequate RNA, including three primary uterine (one fibromyxoid and one mixed smooth muscle LGESS; 1 mixed smooth muscle ESN) and two intraabdominal recurrent (two mixed smooth muscle LGESSs) ESTs. Two cellular leiomyomas and one ESS cell line (ESS-1) without the t(7;17) at the cytogenetic level were run in parallel as controls. JAZF1-JJAZ1 gene fusion transcripts were detected in five (33%) of 15 ESTs, including three of eight primary uterine, one of four metastatic, one of one extrauterine, and none of two recurrent cases. Most ESTs of classic histology showed evidence of JAZF1-JJAZ1 fusion (4 of 5 cases), whereas only one mixed smooth muscle ESN of 10 variant cases was positive. Positivity for JAZF1-JJAZ1 fusion transcripts was found in four of 10 fresh-frozen samples and in one of five paraffin-embedded ESTs. The control specimens were all negative. In conclusion, our data suggest that ESTs are genetically heterogeneous, with the prevalence of the JAZF1-JJAZ1 fusion being highest among ESTs of classic histology. Hence, the diagnostic utility of a JAZF1-JJAZ1 fusion transcript assay in ESTs may be limited to the classic histologic subset.

Adult↗
PubMed2003

[Impact of biochemisty on the duration of treatment for pulmonary embolus].

Can the biochemical evidence for "new thrombophilic factors" influence the duration of AVK treatment following the occurrence of a first pulmonary embolus? Certainly for the classic but very rare antithrombin defects as well as for the existence of circulating anticoagulant. Possibly for protein C and S defects. On the other hand, the existence of a heterozygotic "Leiden" mutation of factor V, or factor II, and an increase of factors VIII, IX, or XI, do not at present warrant a change in AVK prescription. In effect, in the case where the existence of a thrombogenic state implies a prolongation of AVK treatment with its significant potential complications, it is indispensable that the risk/benefit ratio is well founded, which is not the case for these "new" thrombophilic states. The coexistence of several of these new biochemical anomalies (for example the association of a factor V and factor II mutation) probably represents an excess risk of thrombosis, but in this situation the reasoning remains the same. On the other hand, faced with a confirmed recurrence, the studies in the literature tell us that very long term treatment should be debated independently from the biochemical results. It is conceivable that there are biochemical anomalies (sometimes quite frequent which should be viewed as "normal variants") which, although they have great significance for improving the understanding of venous thrombo-embolic disease, do not at present warrant a change in our therapeutic protocols. Another facet of the problem concerns the use of D-dimers following the first months of AVK treatment in order to possibly distinguish patients at low risk of recurrence. The first results of this approach are interesting, but require confirmation before they can be used in practice.

4-Hydroxycoumarins↗