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PubMed1995

Solitary fibrous tumor: histological and immunohistochemical spectrum of benign and malignant variants presenting at different sites.

Twenty-nine tumors (from 26 patients, including two with recurrent disease) diagnosed as solitary fibrous tumor (SFT) of the pleura (n = 23), mediastinum (n = 4), abdominal cavity (n = 1), and parotid gland (n = 1) were studied immunohistochemically. Three histologically malignant tumors showed areas of high cellularity and mitotic activity (more than 4 mitoses/10 high-power fields) with features resembling malignant fibrous histiocytoma, malignant hemangiopericytoma, or fibrosarcoma, together with areas typical of benign solitary fibrous tumor. Formaldehyde-fixed, paraffin-embedded tissues and avidin-biotin-complex immunostaining were used. All of the tumors showed vimentin positivity and did not stain for cytokeratin, glial fibrillary acidic protein, or muscle cell markers, except for focal desmin reactivity in seven tumors, mostly seen in frozen sections, and focal keratin reactivity in one histologically malignant tumor. The neoplastic cells were positive for CD34 and negative for CD31; these patterns also were seen in the three histologically malignant cases. In nine of the cases acetone-fixed frozen sections showed variable focal positivity for neurofilament proteins of 68 kd. We conclude that SFT is a neoplasm of fibroblasts/primitive mesenchymal cells with features of multidirectional differentiation. We also report the finding of a novel site for SFT, the parotid gland.

Abdominal Neoplasms↗
PubMed1982

[Spasm of the coronary arteries].

Spontaneous spasm and methylergometrine maleate-provoked spasm are defined, the latter being observed in nearly all cases of so-called Prinzmetal angina, in approximately one out of three cases of angina at rest, and a certain number of cases of unstable angina: it has even been demonstrated during effort tests with coronarography. Several studies have demonstrated its possible implication in myocardial infarction. Continuous electrocardiogram recordings and isotopic studies have also shown the frequency of silent spasms, or those associated with other ECG modifications than an increased STT latency period. It is now well-established that this type of angina is provoked by reduction in myocardial oxygen supply. To explain the triggering mechanism of the spasm, various factors have been successively evoked: alpha- and beta-receptor disequilibrium, a vagal effect, the very important role played by thromboxane A2 of platelet origin. Emphasis is also placed on circadian variations observed during the spasm, but the course of spastic angina is often unpredictable, leading to necrosis or sudden death in a fairly large number of cases. Medical treatment is essentially by long-acting nitrate derivatives and calcium inhibitors (beta-blockers are considered, according to different teams, as being useless or even dangerous). Surgical treatment may be by aortocoronary shunt or transluminal angioplasty in cases that are stable with trinitrate compounds; associated plexectomy has given good results according to teams in Lille; while heart transplantation has been performed in rare cases. Choice of therapy is difficult in cases with apparently non-surgical moderate stenosis and recurrent spastic angina.

Angina Pectoris, Variant↗
PubMed2001

Plasmapheresis treatment of recurrent FSGS in adult renal transplant recipients.

Plasmapheresis (PP) is often employed in the treatment of recurrent focal segmental glomerulosclerosis (FSGS) in the renal allograft, where it appears to be effective in the pediatric population. The efficacy of PP in adults and predictors of response are not well documented. We analyzed the records of 13 adult patients from three transplant centers who underwent PP for recurrent FSGS between 1993 and 1999. One patient (8%) had a complete response, one (8%) had a partial response, and 3 (23%) partially responded but remain PP-dependent. All 5 responders were started on PP within 30 days of recurrence, while 7 of the 8 non-responders initiated PP after a delay of at least 42 days (p = 0.0047). FSGS recurred within 30 days of transplantation in all 5 responders, while 4 of 8 non-responders had no evidence of recurrence until 42-150 days after transplantation (p = 0.098). Post-transplant biopsies were examined in 10 patients and revealed either cellular (6) or collapsing (4) variants of FSGS. We conclude PP is less effective in adults than in children as a treatment for recurrent FSGS in the renal allograft. Predictors of response to PP include early initiation of treatment after recurrence and possibly an early recurrence of disease.

Adult↗
PubMed2003

High levels of chromosomal imbalances in typical and small-cell variants of T-cell prolymphocytic leukemia.

T-cell prolymphocytic leukemia (T-PLL) is a rare postthymic T-cell disorder that may show different morphologic variants and a very aggressive clinical behavior. On occasion, patients may present with an indolent clinical course and long survival. The disease is genetically characterized by the presence of complex karyotypes with recurrent alterations involving chromosomes 8, 14, and 11. The possible relationship between genetic alterations and morphologic variants and the clinical course of the disease, however, is not well known. Comparative genomic hybridization (CGH) was used to detect chromosomal imbalances in eight patients diagnosed with T-PLL, including three cases of small-cell variant with an indolent clinical evolution. Abnormal profiles were detected in all cases. The chromosomal regions most often over-represented were 8q (75%), 5p (62%), and 14q (37%), as well as 6p and 21 (both 25%). The chromosomal regions most often underrepresented were 8p and 11q (75%), 13q (37%), and 6q, 7q, 16q, 17p, and 17q (25%). The number of chromosomal imbalances in the three small-cell variants was relatively similar to that of cases with typical morphology. Only gains of 6p and losses of 7q present in three and two cases, respectively, with typical morphology were not detected in any small-cell variant. CGH analysis revealed alterations in 15 chromosomal regions not detected by conventional cytogenetics. These results indicate that T-PLL carry a high number of chromosomal alterations that are not related to the morphologic variants or the clinical behavior of the disease.

Adult↗
PubMed2005

ETV6/RUNX1 fusion at diagnosis and relapse: some prognostic indications.

This study was undertaken in order to compare the interphase and metaphase cytogenetics of 28 patients with ETV6/RUNX1 positive acute lymphoblastic leukemia, at diagnosis and relapse. The median time to relapse was 26 months. The significant fusion positive population heterogeneity revealed at interphase by a commercial probe for ETV6/RUNX1 fusion has not been described before. Six diagnostic samples had a single abnormal population; others had up to five each, which differed in the numbers of RUNX1 signals, and in the retention or loss of the second ETV6 signal. In contrast, the number of fusion signals was more constant. At relapse, there were fewer populations; the largest or unique clone was sometimes a re-emergence of a minor, diagnostic one, with a retained copy of ETV6 and the most RUNX1 signals. Abnormal, fusion negative clones were identified in bone marrow samples at extra-medullary relapse. Variant three or four-way translocations, which involved chromosomes 12 and 21, were prominent among the complex rearrangements revealed by metaphase FISH. The frequency of their occurrence at diagnosis and reappearance at relapse, sometimes accompanied by minor clonal evolution, was another new observation. Other recurrent cytogenetic features included a second copy of the fusion signal in six cases, partial duplication of the long arm of the X chromosome in two cases, and trisomy 10 in three cases. In comparing our data with previously reported cases, a picture is beginning to emerge of certain diagnostic features, which may provide circumstantial evidence of an increased risk of relapse.

Adolescent↗
PubMed1983

Is there a predisposition for meiotic nondisjunction that may be detected by mitotic hyperploidy?

The aneuploidy frequencies have been studied in vitro in lymphocytes from couples with recurrent abortions, from parents of a trisomic child and from control couples with at least two normal children; c-heterochromatin variants have been analysed on the same samples by length measurements. A significant increase of hyperploid cells has been observed in the lymphocytes from parents of a trisomic child and couples with recurrent abortions as well. However, no consistent correlation has been found so far between c-heterochromatin variants and an increase of aneuploidy.

Abortion, Habitual↗
PubMed1994

Atypical fibroxanthoma with osteoclast-like giant cells.

Atypical fibroxanthoma has a wide spectrum of histological appearances. A variant recently described is atypical fibroxanthoma with osteoclast-like giant cells. One case of this rare tumour is described. The tumour arose on the forehead of an 87-year-old woman in the form of a subepidermal nodule. The lesion was incompletely excised and recurred 6 months later without showing any characteristics of aggression. Six months after the second operation the patient was well and showed no signs of tumour recurrence. Immunohistological findings showed a "fibrohistiocytic" profile and were similar to those observed in other lesions rich in osteoclast-like giant cells. Flow cytometry revealed the diploid nature of the primary and the recurrent tumour. Atypical fibroxanthoma with osteoclast-like giant cells is a new variant of atypical fibroxanthoma that must be recognized by pathologists, since it can be confused with other benign and malignant tumours with a high proportion of multinucleate osteoclast-like giant cells.

Aged↗
PubMed1994

Four-chromosomes complex translocations in acute promyelocytic leukemia: description of two cases.

Two cases of acute promyelocytic leukemia with variant translocation involving 4 chromosomes are described. The karyotypes were 47,XX, +8,t(13;15;17;20)(q22;q22;q12;q13) and 46,XY,t(5;15;16;17)(q22;q22;p13;q12), respectively. Variant translocations in APL apparently do not follow any preferential routes since no recurrent breakpoint additional to those of chromosomes 15 and 17 has been found in any of the cases reported in the literature and in those described here. Moreover, it seems that the translocation of the RAR alpha gene from chromosome 17 to chromosome 15 is directly involved in the pathogenesis of the disease, while the reciprocal one is not, as demonstrated by variant translocations where 15q migrates to chromosomes other than 17.

Base Sequence↗
PubMed1990

[Ways of reducing the number of recurrences of duodenal ulcer after selective proximal vagotomy].

Analysis of the results of operations on 271 patients for duodenal ulcer by four variants of selective proximal vagotomy showed that mobilization of merely the lesser curvature and the anterior surface of the distal end of the esophagus reduces acidity insufficiently (by 36.3%) and leads to a great number of recurrences (20%). In mobilizing the esophagus by 2-3 cm the acidity reduces by 50.6% and recurrences to 5.8%, in mobilization of the whole abdominal esophagus acidity reduces by 73.7% and recurrences to 3.1%. Inclusion of mobilization of the posterior wall of the gastric cardia in the operation and division of the auxiliary parasympathetic branches are most effective, there are no recurrences.

Adult↗
PubMed1998

CD44 splice variant expression in clear cell carcinoma of the ovary.

OBJECTIVE: CD44 is a surface glycoprotein widely distributed among different tissues. Malignant tumors may show a more complex pattern of CD44 expression, indicating a loss of splice control. The aim of our study is to investigate the expression of CD44 splice variants (CD44v) and its metastatic potential in clear cell carcinoma of the ovary. METHODS: Twenty-two cases of clear cell carcinoma of the ovary were evaluated for CD44 standard form (CD44s) and splice variants: -4v, -6v, and -9v expression by immunocytochemistry. RESULTS: Twenty-one primary ovarian tumors and 23 metastatic sites were available for evaluation. Eighteen of 21 (86%) of ovarian sections studied expressed CD44s; 15/21 (71%) expressed CD44-4v; 14/21 (67%) expressed CD44-6v; and 12/21 (57%) expressed CD44-9v. Of 23 metastatic sites evaluated, 87% expressed CD44s. In contrast, only 5 (22%) metastases had CD44-4v and CD44-6v expression and 8 (35%) had CD44-9v immunoreactivity. None of 10 normal contralateral ovaries expressed CD44s or any splice variants. In 2 cases we had tumor available from the primary surgery, and subsequent recurrences. Both recurrences showed decreased expression of CD44-4v and CD44-6v. CONCLUSIONS: Clear cell carcinoma of the ovary shows an abnormal pattern of CD44s expression and mRNA splicing when compared to the contralateral normal ovary in the same patient. Metastases of clear cell carcinoma show a downregulation in expression of some splice variants. Furthermore, we have data that suggest that as the tumors recur, CD44s and its isoforms are downregulated. Our results suggest that alternative mRNA splicing of CD44 may be important in the development of metastases from clear cell carcinoma of the ovary.

Adenocarcinoma, Clear Cell↗
PubMed2006

Wells syndrome in adults and children: a report of 19 cases.

BACKGROUND: Wells syndrome, an uncommon inflammatory dermatosis, is characterized by protean cutaneous manifestations, suggestive but not specific histopathologic findings, and usually a recurrent course. Because of its original description as a distinct entity, it has come to be regarded as an abnormal eosinophilic response to a number of causative agents. OBSERVATIONS: The medical records of 19 patients (12 adults and 7 children) with Wells syndrome referred to the Institute of Dermatological Sciences from 1990 to 2005 were evaluated for the type and prevalence of skin lesions, clinical course and response to treatment, and possibly associated systemic symptoms, as well as histologic, laboratory, and immunofluorescence findings. The classic plaque-type variant proved to be the most common presentation in children but not in adults, who more frequently had the annular granuloma-like variant. Unilesional forms were found to occur more frequently in children. The course was recurrent, although slowly progressing, with a mean duration of disease of 5 years for adults and 3 years for children. CONCLUSIONS: We emphasize the concept that the diagnosis of Wells syndrome is a clinicopathologic diagnosis. Although it should be classified within a spectrum that includes multisystem eosinophilic disorders, such as Churg-Strauss and hypereosinophilic syndromes, Wells syndrome, which has 7 variants, is a distinct cutaneous disease lacking systemic involvement.

Adult↗
PubMed2005

Thromboembolism in heart transplantation: role of prothrombin G20210A and factor V Leiden.

BACKGROUND: Thromboembolism has been reported as a frequent complication after cardiac transplantation. Many risk factors for thrombosis may explain this, such as metabolic alterations and the use of cyclosporine. In the general population, two single nucleotide polymorphisms (SNPs), factor V Leiden and prothrombin G20210A (PT G20210A), have been associated with a significant increase in the risk of thrombosis. However, these mutations have not been analyzed in cardiac transplant patients. We describe the protracted history of recurrent thromboembolism in a rare case of homozygosity for the PT G20210A variant. This prompted us to analyze the entire cardiac transplant cohort for the incidence of thromboembolic events and their association with these genetic polymorphisms. METHODS: We report the study of 84 cardiac transplant recipients. We retrospectively analyzed the frequency of thromboembolic episodes. The genotypes for FVL and PT G20210A were determined and correlated with those episodes. RESULTS: Our results confirm a very high incidence of thromboembolism in this population. We also found a significant increase in the likelihood of thromboembolism in subjects with the PTB G20210A variant (odds ratio 3.08; 95% confidence interval: 1.7-5.5). CONCLUSIONS: The incidence of thromboembolic complications after heart transplantation is increased and may be related in part to genetic predisposition.

Adult↗
PubMed1975

Papillary meningioma: a malignant variant of meningioma.

A series of 17 meningiomas histologically characterized by a papillary pattern is reported. This pattern was invariably associated with other histologic features of malignancy. The tumors often displayed aggressive clinical behavior marked by a high rate of local recurrence or the development of distant metastases. A relatively large proportion occurred in children. It is suggested that this variant of meningioma is sufficiently characteristic to justify its separation as a distinct clinicopathologic entity.

Adult↗
PubMed1998

Functional analysis of HBV genomes from patients with fulminant hepatitis.

Two previous case reports suggest that hepatitis B virus (HBV) core promoter variants with a high replication competence contribute to the pathogenesis of fulminant hepatitis B (FHB). We recently found in HBV genomes from patients with FHB an accumulation of mutations within the core promoter region. Therefore, the aim of this study was to investigate the phenotype of these HBV variants. Replication competence and expression of hepatitis B surface antigen (HBsAg) and hepatitis B e antigen (HBeAg) of viral genomes from seven patients with FHB and one patient with fulminant recurrent hepatitis after liver transplantation were analyzed by transfection experiments in human hepatoma cells. Compared with wild-type virus, the HBV variants from the seven patients with FHB produced similar or slightly lower levels of intracellular replicative intermediates and extracellular viral particles. In contrast, the HBV genomes from the patient with fulminant recurrent hepatitis synthesized and secreted significantly more HBV DNA. All genomes tested expressed similar or even higher levels of HBeAg compared with wild-type virus, except for those from four patients with a precore stop codon mutation in the respective dominant viral populations. The level of HBsAg produced by all variant genomes was similar or reduced compared with wild-type virus. These data indicate that in some cases HBV variants with enhanced replication competence and/or a defect in HBeAg expression may contribute to the development of FHB. However, neither phenotype is an essential prerequisite; thus, an additional role of other viral or host factors in the pathogenesis of FHB is suggested.

Base Sequence↗
PubMed1996

Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis.

OBJECTIVE: Pancreatitis is an unusual complication of the benign disorder familial hypocalciuric hypercalcaemia (FHH) such that it could represent a distinct subgroup of FHH. In order to study this, we investigated three FHH kindreds with recurrent pancreatitis for mutations of the extracellular calcium-sensing receptor (CaR) to identify a possible common genetic aetiology for typical FHH and that associated with pancreatitis. PATIENTS AND METHODS: Three FHH kindreds (18 affected, 14 unaffected members) in which the proband had presented with recurrent pancreatitis were identified. The entire 3234bp coding region of the CaR gene was examined by direct DNA sequencing using fluorochrome labelled dideoxy-terminators. Mutations were confirmed and demonstrated to co-segregate with FHH by restriction enzyme analysis. RESULTS: Three novel heterozygous missense mutations (Asn178Asp, Arg220Gln and Pro221Ser) in the extracellular domain of the CaR were identified in each of the probands. These mutations, which co-segregated with the hypercalcaemia, were not detected as common polymorphisms in 55 unrelated normocalcaemic controls. CONCLUSIONS: Familial hypocalciuric hypercalcaemia with recurrent pancreatitis is associated with calcium-sensing receptor mutations, and thus this variant has the same genetic aetiology as typical familial hypocalciuric hypercalcaemia.

Adult↗
PubMed2000

End-stage liver disease and liver transplantation: role of lamivudine therapy in patients with chronic hepatitis B.

Chronic infection with hepatitis B virus (HBV) is a common cause of advanced liver disease, including end-stage liver disease. Liver transplantation is generally regarded as the treatment of choice for decompensated cirrhosis. Although long-term prophylaxis with hepatitis B immune globulin (HBIg) has improved significantly the outcome after transplantation, about 20-36% of transplant recipients still develop recurrent hepatitis B and have reduced survival. Moreover, HBIg prophylaxis has a number of disadvantages, including high cost, difficulty in administration and tolerability problems. Lamivudine, an oral nucleoside analogue, is a potent inhibitor of HBV replication and has been investigated in end-stage liver disease and liver transplantation. Treatment with lamivudine results in suppression of viral replication, and clinical improvement and stabilisation of some patients with end-stage liver disease, leading to increased pre-transplant survival as well as a reduced need for transplantation. Prophylaxis with lamivudine is also effective in preventing recurrent HBV infection and graft reinfection after transplantation, although a combination of lamivudine plus HBIg is preferable to prevent the emergence of YMDD variant HBV (tyrosine-methionine-aspartate-aspartate amino acid motif of HBV polymerase). Lamivudine is also effective for the treatment of recurrent hepatitis B after transplantation, based on improvement in virological parameters of infection as well as clinical and histological manifestations of disease. In all of these clinical settings, lamivudine is well tolerated and dose reduction is not required. In conclusion, lamivudine has a potential role for the treatment of patients with hepatitis B-related end-stage liver disease, for prophylaxis in patients undergoing liver transplantation, and in the treatment of recurrent or de novo HBV infection after transplantation.

Antiviral Agents↗
PubMed2005

Spinal intradural clear cell meningioma following resection of a suprasellar clear cell meningioma. Case report and recommendations for management.

The authors report on 32-year-old woman with a history of a previously resected suprasellar clear cell meningioma (CCM), who returned to their institution after 3 years suffering from progressively worsening leg and back pain associated with leg weakness and bowel and bladder dysfunction. A magnetic resonance image of the thoracic and lumbar spine demonstrated a homogeneously enhancing intradural mass that filled and expanded the thecal sac. The patient underwent multiple-level laminectomies for resection of the lesion. Results of pathological studies confirmed distant recurrence of a CCM. Since its initial recognition as a rare but aggressive histological variant of meningothelial tumors, the body of literature on CCMs has grown to include more than 40 cases. Nevertheless, the natural history of this neoplastic entity remains ill defined, as are the recommendations for management. Of particular concern is the treatment of patients who have undergone subtotal resection or present with recurrence. To the authors' knowledge, the present case represents the sixth distant recurrence of CCM reported in the literature. The radiographic and histological studies are reviewed along with the current literature on this subtype of meningioma. Recommendations for surveillance and treatment are made.

Adult↗
PubMed1983

Liposarcoma occurring in children. An analysis of 17 cases and review of the literature.

Liposarcoma, one of the most common malignant mesenchymal neoplasms affecting adults, has rarely been documented to arise in children. Therefore, in this retrospective study, the clinicopathologic features of 17 liposarcomas retrieved from the files of the Armed Forces Institute of Pathology (AFIP) which occurred in patients between the ages of eight months and 15 years were analyzed. In contrast to the slight male prevalence verified in most studies of adult liposarcoma, this group of 17 cases disclosed a distinct female majority (65%). The tumor had a predilection for the lower extremity (41%), particularly the thigh; the remaining examples, which included cases from the neck, back, axilla, buttock, and forearm, reflected a seemingly random anatomic distribution. The retroperitoneum, a very common primary location for adult liposarcoma, accounted for only one example in the group. The histologic variants of liposarcoma coincided with the types delineated in most generally accepted classifications employed for liposarcoma in adults, but their distribution varied considerably from that found in most extensive series of adult liposarcomas. Specifically, there were 13 myxoid liposarcomas, two well-differentiated liposarcomas, and one each of the round cell and mixed variants. Follow-up information, obtained for 15 cases, revealed local recurrence in three patients, one of whom eventually died as a result of direct tumor extension into the pleural cavity.

Adolescent↗