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J Menárguez

Publications and source records attributed to J Menárguez.

At least 19 recordsLinked to original sources
PubMed2005

Lymphoma associated chromosomal abnormalities can easily be detected by FISH on tissue imprints. An underused diagnostic alternative.

BACKGROUND: Fluorescence in situ hybridisation (FISH) is useful for detecting specific chromosomal abnormalities in various tumours. In lymphomas, diagnosis is frequently made using paraffin wax embedded tissue. However, FISH performed under these conditions presents potential technical problems and difficulties in interpretation. AIMS: To show that FISH using tissue imprints and cytopreps or alternatively, bone marrow (BM) smears, constitutes an easy and rapid strategy to overcome these constraints. METHODS: The study comprised 46 patients with lymphoma. Sixty nine tissue imprints, cytopreps, or BM smears were analysed by FISH. Dual colour, dual fusion FISH probes were used to detect the t(8;14), t(11;14), and t(14;18) translocations, whereas a dual colour breakapart FISH probe was used to detect chromosomal translocations involving the BCL6 gene. RESULTS: Tissue imprints and cytopreps were successfully hybridised in all 52 cases, whereas hybridisation was successful in 16 of 17 archival BM smears. All patients could be analysed to identify either the presence or absence of chromosomal translocations. CONCLUSIONS: The use of tissue imprints, cytopreps, or BM smears to identify chromosomal abnormalities by FISH is a rapid and useful ancillary approach for diagnostic purposes. Therefore, it could be used on a routine basis whenever fresh samples are available.

Bone Marrow↗
PubMed2003

Molecular heterogeneity in MCL defined by the use of specific VH genes and the frequency of somatic mutations.

This study explores whether the presence of somatic mutations or a biased use of IgV(H) genes were associated with the clinical features in a series of 96 patients with mantle cell lymphoma (MCL). The cases were studied by seminested polymerase chain reaction using primers from the FR1 and J(H) regions. There was an unexpectedly high frequency of somatic mutations, with 29 of 103 sequences showing more than 2% of mutations. Biased usage of specific V(H) segments was also found; the most widely used genes in this series were V(H)3-21 (10 cases), V(H)3-23 (9 cases), V(H)4-34 (11 cases), and V(H)4-59 (9 cases). V(H) mutation frequency, taking into account different thresholds, did not distinguish different overall survival probabilities. Nevertheless, a more frequent use of V(H)3-21 or V(H)4-59 (8 of 18) was observed in the group of long-term survivors (18 cases > 5 years; P <.01). None of these long-term survivors presented the V(H)3-23 gene rearrangement. As in other lymphoproliferative disorders, the expression of CD38 or p53 or both was associated with a poorer survival probability. This nonrandom usage of IgV(H) segments suggests that specific antigens may play a pathogenically relevant role in the genesis or progression of subsets of MCL cases and may help in distinguishing a significant group of MCL long-term survivors.

Adult↗
PubMed2003

[Chromosome abnormalities in hyperparathyroidism: utility of comparative genomic hybridization in the study of parathyroid hyperplasias].

Genetic abnormalities responsible for primary (pHPT) and secondary hyperparathyroidism (sHPT) are not well described, especially those underlying the autonomous and refractory behaviour of glands from uremic patients with glandular hyperplasia and nodular growth. Comparative Genomic Hybridization (CGH) is a molecular cytogenetic technique based on a double-color in situ fluorescent analysis, allowing a global description of gains and losses of genomic material. It is a useful tool that localizes unstable genetic areas whose alteration could modify the expression of one or several genes related to the pathology in study. Results on primary hyperparathyroidism adenomas have shown a series of genetic changes correlating with areas where genes related to pHPT are located, such as MEN1 and cyclin D1. A large number of chromosomal aberrations in glands from patients with secondary hyperparathyroidism have also been found, and although some of them are common with those described for primary hyperparathyroidism, most of them are located in different areas or in a different proportion. These results confirm that although severe sHPT hyperplasias can evolve into neoplasias similar to pHPT adenomas, both parathyroid alterations must be considered, from a genetic point of view, as unrelated.

Adenoma↗
PubMed1999

Lack of relationship between BsmI vitamin D receptor polymorphism and primary hyperparathyroidism in a Spanish female population.

The role of vitamin D receptor (VDR) gene polymorphisms in the pathogenesis of hyperparathyroidism is uncertain. Controversial results have been reported. The aim of this study was to explore the relevance of BsmI VDR gene polymorphism in patients with primary hyperparathyroidism (PHPT) due to adenomas. For this purpose, 36 postmenopausal patients with PHPT, mean age 64 years, were compared with a normal age-matched female population (n = 81). BsmI polymorphism distribution in PHPT group was as follows: Bb 50% (18/36); BB 22% (8/36); bb 28% (10/36). In the control group, the distribution was Bb 49% (40/81); BB 16% (13/81); bb 35% (28/81). No statistical differences were found between the two groups. In the PHPT group, no statistical associations were found between different allelic distribution and age, creatinine, hematocrit, phosphorus, alkaline phosphatase (ALP), total calcium, serum parathyroid hormone (PTH), or gland weight. By contrast, levels of serum calcium and iPTH values positively correlated with the PT weight (r = 0.421 and 0.599, respectively, P = 0.0001). Our data suggest that at least in this group, BsmI VDR gene polymorphism appears to be of minor relevance in clinical presentation and possibly, tumorigenesis in PHPT due to adenomas.

Adenoma↗
PubMed1998

Myocardial Epstein-Barr virus-associated cardiac smooth-muscle neoplasm arising in a cardiac transplant recipient.

Epstein-Barr virus-associated smooth muscle proliferations have been reported in immunosuppressed patients with acquired immunodeficiency syndrome and after organ transplantation. We report here a case of a histologically benign case arising in a 48-year-old male who had received immunosuppressive therapy 4 years earlier, after cardiac transplantation. In the necropsy performed for unrelated reasons, an incidental left intramyocardial tumor was discovered. The presence of Epstein-Barr virus was confirmed by EBER-1 in situ hybridization and polymerase chain reaction. To the best of our knowledge, this is the first case of an Epstein-Barr virus-associated smooth muscle proliferation arising in the heart after cardiac transplantation and should be added to the potential complications of this kind of procedure.

Aortic Aneurysm, Abdominal↗
PubMed1998

A marginal zone pattern may be found in different varieties of non-Hodgkin's lymphoma: the morphology and immunohistology of splenic involvement by B-cell lymphomas simulating splenic marginal zone lymphoma.

AIMS: Splenic marginal zone lymphoma (SMZL) is characterized by a micronodular infiltrate of the splenic white pulp, centred on pre-existing follicles, with a peripheral rim of 'marginal' zone B-cells, always accompanied by a variable degree of red pulp infiltration. These histological features can be closely mimicked by a variety of other small B-cell lymphomas when they involve the spleen, which makes recognition of SMZL difficult. We therefore have compared the histopathological and immunohistochemical features of other non-Hodgkin's lymphoma (NHL) types with those of SMZL. METHODS AND RESULTS: We selected cases of splenic involvement by different types of B-cell lymphoma, including mantle cell lymphoma (MCL), follicular lymphoma (FL), immunocytoma (IM) and lymphocytic lymphoma (B-CLL). A micronodular pattern and marginal zone differentiation were both found to be frequently present in FL and MCL, and with lesser frequency in IM and B-CLL. The main morphological feature useful for differential diagnosis was the cytological composition of the white pulp tumoral nodules. SMZL is distinguished by characteristic dimorphic cytology, different from the monomorphic cytology of MCL, and the distinctive mixture of centroblasts and centrocytes which is the rule in FL. B-CLL could also be identified on the basis of the polymorphic cytology including small lymphocytes and prolymphocytes, whereas cases diagnosed as IM show prominent plasmacytic differentiation, lacking the features of the other lymphoma types. Immunohistochemistry was particularly useful for the differential diagnosis. Thus the recognition of MCL was facilitated by the identification of cyclin D1 and CD43 reactivity, while FL could be recognized by the lack of IgD expression or the distinctive pattern of Ki67 staining found in SMZL. B-CLL cells were CD23+, CD43+. CONCLUSION: The results of this study provide morphological and immunohistological information useful in the recognition of the different varieties of NHLs when involving the spleen and the differential diagnosis of SMZL.

Adult↗
PubMed1997

HIV-associated oral pleomorphic B-cell malignant lymphoma.

A 48-year-old HIV-seropositive homosexual patient presented with an ulcerative lesion in the left side of the soft palate, extensively involving local soft tissue structures. On histologic evaluation the lesions appeared to be a large-cell high-grade B-cell pleomorphic lymphoma with anaplastic and plasmacytoid features harboring Epstein-Barr virus genome in the tumor cells. Although known to be associated with HIV infection, this is a rare subtype of a malignant lymphoma arising in a patient positive for HIV. Its meaning is yet unknown in biologic and prognostic terms.

Fatal Outcome↗
PubMed1997

Absence of EBV genome in lymphoepithelioma-like carcinomas of the larynx.

Undifferentiated nasopharyngeal carcinomas are universally associated with Epstein-Barr virus (EBV). This association has been exclusively established in lymphoepithelioma-like carcinomas in some locations. The relationship between EBV and lymphoepithelioma-like carcinomas in the larynx is unknown. In none of the few laryngeal lymphoepithelioma-like carcinomas reported have EBV investigations been carried out. We present here two supraglottic laryngeal lymphoepithelioma-like carcinomas in which EBV antigens were not demonstrable using immunohistochemical and molecular methods. Our results suggest that EBV may not be involved in laryngeal lymphoepithelioma-like carcinoma at least in Western patients.

B-Lymphocytes↗
PubMed1997

Lymph node involvement by splenic marginal zone lymphoma: morphological and immunohistochemical features.

Splenic marginal zone lymphoma (SMZL) has recently been proposed as a distinctive type of low-grade B-cell lymphoma. Although there is general agreement that this entity exists, its precise definition is blurred by uncertainty in differential diagnosis from other low-grade B-cell lymphomas. There is even more uncertainty as to the histology of splenic hilar and peripheral lymph nodes involved by SMZL. We therefore reviewed the histological and immunohistochemical features of 19 of these lymph nodes (14 hilar and five peripheral) from 14 cases of classical SMZL and compared them with the features of lymph nodes involved by other B-cell lymphomas. The morphology and immunohistology of the lymph nodes resemble those found in the white pulp of the spleen, showing a distinctive pattern, different from that which is observed in other B-cell lymphomas. In these cases, the overall architecture of the lymph nodes is effaced and replaced by a nodular infiltrate, although the sinuses are preserved in most hilar lymph nodes. Some of the nodules contain a central reactive follicular center, around which there is a broad zone of small lymphocytes. In other cases, the central area is partially infiltrated or, more commonly, totally replaced by these small lymphocytes, which in the periphery of the nodules showed a pale, slightly larger cytoplasm. Scattered nucleolated blasts are present, largely confined to the periphery of the nodules. The tumoral cells express immunoglobulin (Ig)D, IgM, and Ig light chain restriction and show a low proliferation fraction. These findings confirm that SMZL is a real entity, and not merely a morphological pattern of splenic infiltration by different types of low-grade B-cell lymphoma.

Adult↗
PubMed1995

Presence of Epstein-Barr virus and strain type assignment in Argentine childhood Hodgkin's disease.

Epstein-Barr virus (EBV) has been implicated in the etiology of a large number of malignancies. Most recently several studies have linked EBV to Hodgkin's disease. In this report, formalin-fixed, paraffin-embedded tissues were collected retrospectively from 41 children with Hodgkin's disease treated at our hospital. Lymph node biopsies were examined for the presence of two virus-encoded latent proteins: latent membrane protein (LMP) and Epstein-Barr nuclear antigen-2 (EBNA-2), in Reed-Sternberg (RS) and Hodgkin (H) cells, by peroxidase immunolabeling. Nonisotopic Epstein-Barr encoded RNAs (EBERs) in situ hybridization was also performed and positive labeling in malignant cells was detected. Twenty specimens were EBER+/LMP+, 2 were EBER+/LMP-, and 19 were EBER-/LMP-. However, none of the 41 cases expressed EBNA-2. Twenty-two of 41 (54%) cases were EBV positive including 2 of 6 with lymphocyte predominance, 19 of 25 with mixed cellularity, 0 of 9 with nodular sclerosis, and 1 of 1 with lymphocyte depletion. In the age range of 2 to 6 years, 14 of 17 (82%) samples were EBV-positive, whereas only 8 of 24 (33%) samples from the age range of 7 to 15 years contained EBV. (P = .004), a two-tailed Fisher's test). In 17 samples, polymerase chain reaction amplification was performed using strain specific primers for exon sequences of the EBNA-3C gene of EBV. From 12 positive samples, 8 contained EBV-A and 4 EBV-B. These results support the hypothesis that EBV contributes to the pathogenesis of pediatric Hodgkin's disease, particularly in mixed cellularity Hodgkin's disease and in the younger group.

Adolescent↗
PubMed1995

Hepatosplenic gamma-delta T-cell malignant lymphoma: report of the first case in childhood, including molecular minimal residual disease follow-up.

We report the first case of T-cell gamma delta+ hepatosplenic malignant lymphoma in childhood. Tumour-specific oligoprobes were developed against the single V1-J1 rearrangement of the delta T-cell receptor (TCR) gene in order to perform minimal residual disease (MRD) studies. Molecular analysis in serial bone marrow samples proved to be of predictive value concerning the clinical outcome. Clonotypic DNA was not detected in peripheral blood during the course of the disease until a refractory terminal leukaemic phase took place 18 months after the diagnosis. This case demonstrates the usefulness of MRD studies to monitor the course of disease in at least some subsets of peripheral T-cell lymphomas.

Base Sequence↗
PubMed1995

Splenic marginal zone lymphoma: a distinctive type of low-grade B-cell lymphoma. A clinicopathological study of 13 cases.

The recognition and classification of the different varieties of splenic low-grade B-cell lymphomas have been hampered by the rarity of histological studies of surgical splenectomy specimens of B-cell lymphoma. In an effort to characterize the recently described splenic marginal zone lymphoma (SMZL), we conducted a survey of 13 patients with this type of tumor using the criteria defined by Schmid for its recognition (Schmid et al., Am J Surg Pathol 1992;16:455-66). Primary splenic high-grade lymphomas, T-cell lymphomas, and secondary infiltration by other recognized low-grade B-cell lymphomas, with the exception of splenic lymphoma with villous lymphocytes, were excluded. This selection gave rise to a homogeneous group of tumors with similar clinical, histological, immunohistochemical, and molecular features. Our study showed the critical parameters for their recognition to be morphological, including macroscopic micronodularity and the constant presence of white- and red-pulp infiltration, marginal zone pattern, and plasmacytic differentiation. No t(14;18) or PRAD-1/cyclin D1 overexpression was detect able in any case. Clinically, the tumors were widespread with a protracted evolution. Nodal infiltration by SMZL in our cases was morphologically similar to monocytoid B-cell lymphoma. SMZL could constitute the largest group of primary splenic malignant lymphomas, partially overlapping with splenic lymphoma with villous lymphocytes. Specific molecular markers for SMZL have yet to be defined. Because of the limited number of cases, the question of therapy for this group of lymphomas must remain open for the future.

Aged↗
PubMed1994

Waldeyer ring lymphomas. A clinicopathological study of 79 cases.

Waldeyer ring lymphomas belong to a category of tumours which has not yet been fully defined. Their relation to mucosa-associated lymphoid tissue (MALT) and other extranodal lymphomas remains largely unknown. We performed a clinicopathological retrospective study of 79 patients, and compared them with a series of MALT and nodal lymphomas. Tumours from the nasopharynx and palatine tonsil showed similar histological profiles, with a predominance of large B-cells. Centroblastic lymphomas constituted the largest group (n = 45), followed by those of centrocytic type (9) with smaller groups of centroblastic-centrocytic (5) and Hodgkin's lymphomas (2). Three monocytoid B-cell lymphomas were identified. Only one case could be classified as MALT lymphoma. The frequency of bcl-2 expression in large B-cell tumours of Waldeyer's ring has an intermediate range between large B-cell lymphomas occurring in mucosal and nodal locations. Epitheliotropism was present in all low-grade cases, and was therefore not a useful marker in the identification of potential MALT lymphomas in contrast with other mucosal sites. Comparative survival studies showed significant overall differences between Waldeyer ring lymphomas, MALT and nodal cases. These disappeared after taking stage and histological grade into account. We conclude that Waldeyer ring lymphomas show distinctive features, mainly in terms of histological distribution and immunophenotype. The key factor determining their behaviour could be their different spreading capability. These findings suggest that extranodal lymphomas are heterogeneous, and indicate the need for additional efforts to clarify this.

Adolescent↗