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3.
Eur J Surg Oncol ; 19(6): 517-21, 1993 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-8270036

RESUMEN

We analyse a new variety of papillary carcinoma of the thyroid, known as the tall cell variant. The lesion is characterized by a papillary cancer (PCT) in which more than 30% of the tumour is made up of a population of tall columnar cells over twice as tall as their width. Of a population of 158 differentiated thyroid carcinomas we found five cases of this rare variant. We studied their clinico-pathological features, the importance of an early diagnosis and their prognostic implications. The data were compared with those of Well-Differentiated or Classical PCT (WDPC), the most important features of which were: (a) later age of appearance; (b) greater predilection for males; (c) greater frequency of extrathyroid tumor extensions; (d) greater frequency of recurrences; and (e) a shorter survival or disease-free interval. The prognostic importance involved in recognizing this variant is based on the need to give patients a more aggressive treatment and more exhaustive follow-up.


Asunto(s)
Carcinoma Papilar/patología , Neoplasias de la Tiroides/patología , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Pronóstico , Estadística como Asunto , Análisis de Supervivencia
4.
Eur J Surg Oncol ; 20(1): 7-11, 1994 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-8131874

RESUMEN

A new variant of papillary carcinoma of the thyroid is analysed, known as 'diffuse sclerosing'. This lesion is characterized by a papillary cancer with a marked lymphocytic infiltration, intense fibrosis and a large number of psammoma bodies. Of a population of 158 differentiated thyroid carcinomas, we found four cases of this rare variant. The clinicopathological characteristics were studied together with the importance of an accurate diagnosis and prognosis, and the data obtained were compared with those of a 'well-differentiated or classical' papillary cancer, which yielded the following outstanding features: (a) younger age of presentation; (b) greater affinity for males; (c) greater frequency of extrathyroid extension; and (d) greater frequency of recurrences. The clinical importance of recognizing this variant is based on the need to apply a more aggressive treatment and a more exhaustive follow-up to such patients.


Asunto(s)
Carcinoma Papilar/patología , Neoplasias de la Tiroides/patología , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Esclerosis
5.
Eur J Surg Oncol ; 21(5): 482-5, 1995 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-7589590

RESUMEN

Thymomas are uncommon tumours. This study analyses the prognostic value of certain clinical variables and of two different histological classifications. Thirty cases were analysed; 24 were women and six men, with a mean age of 50 years (range 22-69). The pre-operative study included: clinical data (Masaoka's and Osserman's clinical classification); chest radiography; and computed axial tomography. Surgery was divided into three categories: total tumour resection, partial resection and biopsy alone. For the pathological study we followed Salyer-Eggleston and Marino-Müller classifications. Follow-up averaged 5.5 years (range: 2-11). As a statistical method we used Kaplan-Meier's survival curves and Cox's regression model. Eleven of the patients had associated myasthenia gravis, this being the most common clinical type. Age, sex, association with myasthenia gravis, surgical technique and Salyer-Eggleston's classification showed no prognostic value; conversely, clinical staging and Marino-Müller's classification had a high prognostic value. The first treatment that should be considered is surgery, with an attempt to perform total tumour resection. Myasthenia gravis did not modify the prognosis of the disease. The factors of greatest prognostic significance were clinical staging and Marino-Müller's histological classification.


Asunto(s)
Timoma/diagnóstico , Neoplasias del Timo/diagnóstico , Análisis Actuarial , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Pronóstico , Modelos de Riesgos Proporcionales , Análisis de Supervivencia , Timoma/patología , Timoma/terapia , Neoplasias del Timo/patología , Neoplasias del Timo/terapia
6.
Diagn Cytopathol ; 6(3): 169-77, 1990.
Artículo en Inglés | MEDLINE | ID: mdl-2387207

RESUMEN

To date, we have studied 89 palpable lesions of the scrotum, testicle, and epididymis using fine-needle aspiration cytology (FNAC). Cystic lesions (48.3%) and inflammatory pathology (25.8%) were the most frequent findings. Tumors accounted for 11.2% of results, with a slight predominance of the malignant varieties. In this article, we describe the cytopathology of the main entities and discuss the principal problems of differential diagnosis, especially among inflammatory processes, seminomas, and embryonal carcinomas. The cytopathological pattern of the neoplasias is highly characteristic, and this permits their diagnosis with great precision. FNAC is essentially nontraumatic and easy to carry out, but it requires considerable practice in its execution and in the interpretation of the aspirates. We believe FNAC to be the technique of choice for the study of the pathology of the scrotal content, and we think that it should be employed on the patient's very first visit. The main advantage of FNAC is avoiding delays in diagnosis.


Asunto(s)
Enfermedades de los Genitales Masculinos/patología , Escroto/patología , Enfermedad Aguda , Biopsia con Aguja , Enfermedad Crónica , Citodiagnóstico , Disgerminoma/patología , Epidídimo/patología , Epididimitis/patología , Neoplasias de los Genitales Masculinos/patología , Granuloma/patología , Hematocele/patología , Humanos , Tumor de Células de Leydig/patología , Masculino , Mesonefroma/patología , Orquitis/patología , Espermatocele/patología , Teratoma/patología , Hidrocele Testicular/patología , Testículo/patología
7.
Diagn Cytopathol ; 9(6): 698-704, 1993 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-8143549

RESUMEN

We describe one case of Rosai-Dorfman disease (RDD) localized in the breast and one case of breast malacoplakia (MPK) both diagnosed by fine-needle aspiration cytology (FNAC). In RDD the cytologic features were lymphocytophagocytosis, large histiocytes with slight nuclear atypia, and lymphohistiocytic aggregates in a polymorphous background which included frequent plasma cells. In MPK the key diagnostic feature was the presence of Michaelis-Gutmann bodies (M-G bodies), in various stages of evolution, intermingled with vacuolized medium-sized histiocytes, other inflammatory cells, and debris. Pap staining is the technique of choice to show lymphocytophagocytosis and M-G bodies and there is no need to resort to special staining methods. RDD and MPK share a common cytologic background: the presence of numerous benign reactive histiocytes, either engulfing apparently intact lymphocytes, or phagocytizing M-G bodies. The cytologic findings seen in both cases suggest that the presence of histiocytes in a breast aspirate is far from being nonspecific and can represent an important lead to disparate diseases such as RDD and MPK.


Asunto(s)
Enfermedades de la Mama/patología , Histiocitosis Sinusal/patología , Malacoplasia/patología , Adulto , Anciano , Biopsia con Aguja , Femenino , Humanos
8.
Diagn Cytopathol ; 8(3): 248-52, 1992.
Artículo en Inglés | MEDLINE | ID: mdl-1318826

RESUMEN

We have studied 3 cases of sarcoidosis involving the parotid gland by means of fine-needle aspiration cytology (FNAC). The main findings were noncaseating granulomas, multinucleated giant cells (MGCs), and lymphocytes. In one case MGCs contained asteroid bodies and in another case we observed calcium oxalate crystals (COCs) over both stromal fragments and MGCs. Although nonpathognomonic for sarcoidosis, these 2 findings may help in the diagnosis of this condition. However, both are easily overlooked and must be borne in mind when viewing noncaseating granulomas. Sarcoid granulomas displaying COC must be differentiated from foreign-body granulomas. The aforementioned cytological findings must be assessed in conjunction with clinical findings. Nevertheless, in most cases the diagnosis of sarcoidosis is made by exclusion.


Asunto(s)
Oxalato de Calcio/metabolismo , Cuerpos de Inclusión/patología , Enfermedades de las Parótidas/patología , Sarcoidosis/patología , Adulto , Biopsia con Aguja , Femenino , Fibrosis , Células Gigantes/patología , Humanos , Persona de Mediana Edad , Enfermedades de las Parótidas/metabolismo , Sarcoidosis/metabolismo
9.
Diagn Cytopathol ; 13(1): 44-51, 1995 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-7587875

RESUMEN

We have studied one undifferentiated (embryonal) sarcoma of the liver (USL) by fine-needle aspiration cytology (FNAC) and have correlated the cytologic findings with those seen in the histologic sections. The main cytologic and immunocytochemical features were: cellular aspirates, mesenchymal clusters, disparity in individual cell size (small round cells, and multinucleated giant cells, sometimes bizarre), absence of biliary pigment, AFP-negative and vimentin-negative tumor cells, AFP-negative and PAS-positive hyaline globules, and apoptotic cells. Only immunostaining for alpha-1-antitrypsin, alpha-1-antichymotrypsin, and carcinoembryonic antigen were positive in tumor cells in histologic sections. The differential diagnosis should be carried out with rhabdomyosarcomas, hepatoblastomas, malignant fibrous histiocytomas, and poorly differentiated hepatocarcinomas. We think that the cytologic features observed in this case, evaluated both in the appropriate clinical context and in the light of the laboratory findings, may permit the correct diagnosis of this infrequent liver tumor. Nevertheless, more cases need to be studied to assess the reliability of our findings.


Asunto(s)
Neoplasias Hepáticas/patología , Neoplasias de Células Germinales y Embrionarias/patología , Adulto , Biopsia con Aguja , Humanos , Inmunohistoquímica , Neoplasias Hepáticas/química , Masculino , Neoplasias de Células Germinales y Embrionarias/química , Tomografía Computarizada por Rayos X
10.
Diagn Cytopathol ; 8(4): 369-73, 1992.
Artículo en Inglés | MEDLINE | ID: mdl-1322263

RESUMEN

We describe the cytopathological and immunohistochemical features of a primary malignant rhabdoid tumor (MRT) located in the left forehead region of an 8-mo-old female. The cardinal characteristics are hyaline cytoplasmic inclusions, rounded or bean-shaped nucleus, vesicular chromatin, central prominent nucleolus, and poorly defined cytoplasmic profile. Both the cytoplasm and the hyaline inclusion are vimentin and keratin positive, but negative with desmin, S-100 protein, neuron-specific enolase, (NSE) myoglobin, leukocyte common antigen (LCA), and alpha-1-antichymotrypsin. This immunohistochemical pattern, although not exclusive to MRT, is fairly typical of MRT, and when it is assessed in conjunction with cytopathological findings and clinical data permits a confident diagnosis of MRT. We emphasize the utility of immunohistochemical techniques in making the differential diagnosis of MRT against other childhood round-cell tumors.


Asunto(s)
Neoplasias de Cabeza y Cuello/patología , Rabdomiosarcoma/patología , Neoplasias de los Tejidos Blandos/patología , Tumor de Wilms/patología , Biopsia con Aguja , Femenino , Humanos , Técnicas para Inmunoenzimas , Lactante , Rabdomiosarcoma/clasificación , Neoplasias de los Tejidos Blandos/clasificación , Tumor de Wilms/clasificación
11.
Diagn Cytopathol ; 15(1): 12-6, 1996 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-8807246

RESUMEN

We have reappraised the fine-needle aspirates (FNAs) of 5 cases of the follicular variant of papillary carcinoma of the thyroid (FVPCT). Three of these had been performed on cold thyroid nodules and had been diagnosed as follicular proliferations. The remaining 2 had been performed on cervical lymphadenopathies and had been diagnosed as metastatic papillary carcinoma, probably of thyroid origin. Careful reassessment of the slides did not allow any change of the original diagnoses. We found two constant cytologic features present in all cases studied: syncytial clusters without acinar formation, and monolayered sheets. Nonconstant findings included: follicular pattern, ropy colloid, multinucleated giant cells (MGCs), and nucleoli in FNAs performed on thyroid nodules, and papillae, pseudonuclear inclusions, nuclear grooves, MGCs, and nucleoli in FNAs performed on cervical lymphadenopathies. Our findings suggest that the cytologic diagnosis of FVPCT is very difficult if based solely on the cytologic features seen in FNAs, and that it is necessary to resort to the study of surgical specimens if a definitive diagnosis is to be achieved. We are also of the opinion that more weight should be given to the aforementioned nonconstant findings when faced by a thyroid aspirate with cell richness, syncytial clusters without acinar formation, and monolayered sheets.


Asunto(s)
Biopsia con Aguja/normas , Carcinoma Papilar Folicular/patología , Neoplasias de la Tiroides/patología , Adulto , Carcinoma Papilar Folicular/secundario , Reacciones Falso Negativas , Femenino , Humanos , Metástasis Linfática , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
12.
Diagn Cytopathol ; 11(3): 291-6, 1994.
Artículo en Inglés | MEDLINE | ID: mdl-7867475

RESUMEN

We describe a case of intramedullary melanocytic schwannoma (MS) studied by means of fine-needle aspiration cytology (FNAC). The main cytologic features were (1) large three-dimensional clusters overshadowed by heavy pigment deposits which tested positive for Fontana Masson (and bleached with potassium permanganate), HMB-45, Vimentin, and S-100 protein; (2) loose syncytial monolayered sheets with very little pigment deposit; and (3) isolated spindle cells with polarized nucleus and tapered, thin cytoplasmic ends. Both the cytologic features and the immunophenotypic profile were nonspecific and on their own were insufficient to allow the diagnosis of MS to be reached. Clinical data and the magnetic resonance image (MRI) in conjunction with the cytologic findings did suggest the diagnosis of intramedullary MS.


Asunto(s)
Melanocitos/patología , Neurilemoma/patología , Neoplasias de la Médula Espinal/patología , Biopsia con Aguja , Femenino , Humanos , Inmunohistoquímica , Imagen por Resonancia Magnética , Persona de Mediana Edad
13.
Diagn Cytopathol ; 16(3): 214-20, 1997 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-9099540

RESUMEN

Although subacute granulomatous thyroiditis (SGT) is usually diagnose clinically, there are other thyroid conditions that must be ruled out. This task is achieved by means of fine-needle aspiration (FNA). In retrospect, the clinical and cytologic findings seen in 36 SGT cases are reassessed with a view to deciding which findings are most reliable for reaching a confident cytologic diagnosis. These are: the simultaneous presence in the same aspirate of the following cells: 1) follicular cells with intravacuolar granules and/or plump transformed follicular cells; 2) epithelioid granulomas; 3) multinucleated giant cells; 4) an acute and chronic inflammatory dirty background; 5) the absence of the following cells: fire-flare cells, hypertrophic follicular cells, oncocytic cells, and transformed lymphocytes. The absence of one or more of these requirements does not exclude SGT but does increase the number of thyroid conditions that come into the differential diagnosis. In these cases, it is essential to review clinical data carefully and to submit the patient to a close clinical and FNA follow-up.


Asunto(s)
Tiroiditis Subaguda/patología , Biopsia con Aguja , Humanos , Estudios Retrospectivos
14.
Diagn Cytopathol ; 21(3): 180-7, 1999 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-10450103

RESUMEN

This is a review of the cytologic and clinicopathological findings seen in a series of six fibrolamellar hepatocellular carcinomas (FL-HCC) studied by means of fine-needle aspiration (FNA). A comparison of several cellular measurements (cell, nuclear and nucleolar sizes, and N/C ratios) of FL-HCC, ordinary hepatocellular carcinoma (O-HCC), and normal hepatocytes was also carried out in order to find out if these figures could be of help in the cytologic diagnosis. Aspirates were made up of a rather monotonous population of large discohesive cells resembling the morphology of the oncocytes seen in thyroid aspirates; trabecular arrangement of tumor cells was not observed. Cytoplasmic pale bodies and hyaline cytoplasmic bodies were seen in variable quantities. Microbiopsies displaying the fibrolamellar pattern were observed in four cases. FL-HCC individual tumor cells were larger than individual O-HCC tumor cells (P < 0.001), as were nuclear (P < 0.007) and nucleolar sizes (P < 0.001), but N/C ratio of O-HCC was higher than the N/C ratio of FL-HCC (P < 0.005). Based on the findings, a single cell aspirated from an FL-HCC is three times the size of a normal hepatocyte and 1.60 times the size of a single cell aspirated from a well-differentiated O-HCC. The cytologic findings of FL-HCC are very characteristic and permit a correct diagnosis of this liver malignancy, provided the cytopathologist is aware of the clinical, demographic, CT-image, biochemical, and pathological features of this neoplasm. Diagn. Cytopathol. 21:180-187, 1999.


Asunto(s)
Biopsia con Aguja , Carcinoma Hepatocelular/patología , Neoplasias Hepáticas/patología , Adolescente , Adulto , Nucléolo Celular/patología , Núcleo Celular/patología , Tamaño de la Célula , Niño , Citoplasma/patología , Femenino , Humanos , Ganglios Linfáticos/patología , Metástasis Linfática , Masculino , Tomografía Computarizada por Rayos X , alfa-Fetoproteínas/análisis
15.
Diagn Cytopathol ; 10(2): 146-51, 1994.
Artículo en Inglés | MEDLINE | ID: mdl-8187594

RESUMEN

We describe one case of Merkel cell tumor (MCT) of the eyelid diagnosed by fine-needle aspiration (FNA). The main cytologic features were: isolated cells, loose cohesive sheets, and rosette-like structures in a hematic background. The cells were round to ovoid and very uniform. Chromatin was finely granular and frequent mitotic figures were observed. Under close scrutiny small faintly stained juxtanuclear "caps" were seen. A strong dot-like positivity for CK22 and NFP was observed in the position corresponding to the "caps." NSE positivity was diffuse, although a weak dot-like positivity was seen in some cells. S-100 was negative. Both the cytologic features and the immunocytologic profile of Merkel cell tumor are very characteristic. FNA enables an early and confident diagnosis of this aggressive tumor and an early planning of surgery.


Asunto(s)
Carcinoma de Células de Merkel/patología , Neoplasias de los Párpados/patología , Neoplasias Cutáneas/patología , Anciano , Biopsia con Aguja , Femenino , Humanos , Inmunohistoquímica
16.
Diagn Cytopathol ; 14(1): 75-83, 1996 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-8834083

RESUMEN

This is a review of the fine-needle aspirates (FNAs) of nine pilomatrixomas (PMs) found in a series of 1,500 FNAs performed on skin nodules. The objective is to determine and list the cytologic findings that might mislead the less-experienced cytopathologist and to give him advice on how to avoid such errors. The following recommendations are made: 1) The FNAs should be carried out and the smears interpreted by the same person. 2) Clinical data, particularly age and location, are of paramount importance. 3) Shadow cells are pathognomonic of PMs. 4) Basaloid nuclei with prominent nucleoli should not be overdiagnosed. 5) Use both Papanicolaou and Diff-Quik stains. 6) Think of PM when performing and interpreting aspirations from subcutaneous growths located in the head and neck of young persons.


Asunto(s)
Enfermedades del Cabello/diagnóstico , Enfermedades del Cabello/patología , Pilomatrixoma/diagnóstico , Pilomatrixoma/patología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Adulto , Biopsia con Aguja , Niño , Preescolar , Diagnóstico Diferencial , Errores Diagnósticos , Femenino , Neoplasias de Cabeza y Cuello/diagnóstico , Neoplasias de Cabeza y Cuello/patología , Humanos , Pierna , Masculino , Persona de Mediana Edad
17.
Acta Cytol ; 37(5): 725-8, 1993.
Artículo en Inglés | MEDLINE | ID: mdl-8362587

RESUMEN

We describe the cytopathologic features of two cases of collagenous spherulosis of the breast on fine needle aspiration cytology. The main findings were a moderately rich cellular aspirate, monolayered epithelial clusters with bland nuclei, naked bipolar nuclei and light green (Papanicolaou stain) or pink (Diff-Quik) spherules surrounded by a ring of comma-shaped nuclei resembling myoepithelial cells, located either at the heart of the epithelial clusters or detached from them. We also comment on the differential diagnosis with adenoid cystic carcinoma of the breast, signet-ring carcinoma and myospherulosis.


Asunto(s)
Enfermedades de la Mama/patología , Colágeno/análisis , Adulto , Biopsia con Aguja , Enfermedades de la Mama/metabolismo , Femenino , Humanos , Inmunohistoquímica
18.
Acta Cytol ; 38(2): 175-82, 1994.
Artículo en Inglés | MEDLINE | ID: mdl-8147208

RESUMEN

We applied cytologic and architectural diagnostic criteria to the aspiration smears of six cases of hepatoblastoma (HBL) in order to establish whether it is possible to obtain a reliable cytologic diagnosis of this neoplasm and to subclassify it based on cytologic evidence alone. We describe two groups of HBL, undifferentiated and differentiated. The undifferentiated group comprises anaplastic and embryonal subtypes, and the differentiated group comprises fetal and macrotrabecular subtypes. Our findings suggest that the fetal and macrotrabecular subtypes have a rather characteristic cytologic pattern, permitting us to differentiate between the two and to distinguish them from the other two subtypes. The differential diagnosis between the anaplastic and embryonal subtypes is more complex and can be difficult to carry out using cytologic criteria exclusively. The immunophenotypic pattern reflects the degree of maturity of each subtype and helps with cytologic subclassification. The cytologic differential diagnosis of undifferentiated HBL must include hepatic metastases of small round cell tumors of childhood. The cytologic differential diagnosis between differentiated HBL and hepatocellular carcinoma may be very difficult. We suggest that the cytologic subclassification of HBL is possible with the reservation that the predominant pattern may mask other, associated patterns.


Asunto(s)
Hepatoblastoma/clasificación , Hepatoblastoma/patología , Neoplasias Hepáticas/clasificación , Neoplasias Hepáticas/patología , Biopsia con Aguja , Preescolar , Femenino , Humanos , Inmunofenotipificación , Lactante , Masculino
19.
Med Clin (Barc) ; 100(1): 1-4, 1993 Jan 09.
Artículo en Español | MEDLINE | ID: mdl-8429696

RESUMEN

BACKGROUND: The pneumonias associated to mechanical ventilation present great difficulty in diagnosis and have a high mortality. The invasive diagnostic technique of choice in these patients is bronchial curettage by a double telescopic catheter with distal occlusion (OTC) based on its good sensitivity/specificity relation. Recently, the use of a variant of the classical bronchoalveolar lavage (BRL), bronchoalveolar lavage or protected alveolar lavage (PAL) has appeared in the diagnosis of conventional bacterial pneumonia. This new technique provides good specificity of OTC by its use with "protected" catheters and a high sensitivity due to exploration of a greater area of the lung. METHODS: Twenty patients receiving mechanical ventilation (MV) suspected of pneumonia in whom 21 fibrobronchoscopies (FB) were performed with OTC and PAL were studied with quantification of the cultures obtained being carried out. The OTC was performed according to the usual technique and PAL by the instillation of 40 ml of saline serum administered through a Combicath type catheter. RESULTS: OTC and PAL provided diagnostic results which coincided in 8 cases: the same germs were isolated at significant concentrations in six patients and in the two remaining cases direct immunofluorescence for Legionella was positive. PAL was diagnosed in 4 more cases with the diagnosis of viral inclusion bodies being possible in one upon cytologic examination. The count of cells with intracellular bacteria (ICB) was greater than 7% and was always related with positivity in the PAL. CONCLUSIONS: A greater sensitivity was observed with the protected alveolar lavage technique. Moreover, this technique makes virologic investigation and the counting of cells with intracellular bacteria, which may be a marker of rapid diagnosis of bacterial pneumonia, possible.


Asunto(s)
Líquido del Lavado Bronquioalveolar , Cateterismo Periférico/instrumentación , Neumonía/diagnóstico , Respiración Artificial , Adolescente , Adulto , Líquido del Lavado Bronquioalveolar/microbiología , Líquido del Lavado Bronquioalveolar/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neumonía/microbiología , Neumonía/patología , Estudios Prospectivos
20.
Med Clin (Barc) ; 112(17): 646-50, 1999 May 15.
Artículo en Español | MEDLINE | ID: mdl-10374185

RESUMEN

BACKGROUND: Multiple endocrine neoplasia type 2 (MEN 2) syndromes are inherited following an autosomal dominant pattern. RET protooncogen mutations have been associated with MEN 2. The identification of these mutations enables us to diagnose MEN 2. The objectives were to recognize RET mutations and gene carriers in the area of Murcia and to sep up the relationship between genotype and phenotype. PATIENTS AND METHODS: 284 subjects from 14 MEN 2A kindreds and one MEN 2B family from the Community of Murcia, Spain, were studied. 48 out of them had MEN 2 tumours and 236 subjects were at risk. The initial screening test was single-strand conformation polymorphism (SSCP) in 8 MEN 2A families and denaturing gradient gel electrophoresis (DGGE) in 6 MEN 2A families; the results in all the subjects were confirmed with restriction analysis. The MEN 2A family in which the Cfo-I enzyme detected but did not specify the type of mutation received DNA sequence assay. The MEN 2B kindred was studied with restriction analysis. RESULTS: TGC-->TAC and TGC-->CGC mutations of codon 634 were found in 13 and one MEN 2A kindreds, respectively. ATG-->ACG mutation of codon 918 was present in the MEN 2B family. Clinical diagnosis was confirmed in the 48 patients, 44 new gene carriers were detected and 192 carriers of normal alleles were ruled out. The incidence of hyperparathyroidism was highest if RET mutation was TGC-->CGC. CONCLUSIONS: Community of Murcia is one of the areas with the highest prevalence of MEN 2. The risk of hyperparathyroidism is increased if TGC-->CGC is present.


Asunto(s)
Carcinoma Medular/genética , Neoplasia Endocrina Múltiple Tipo 2b/genética , Feocromocitoma/genética , Mutación Puntual/genética , Proteínas Proto-Oncogénicas/genética , Neoplasias de la Tiroides/genética , Adolescente , Adulto , Anciano , Alelos , Carcinoma Medular/epidemiología , Niño , Preescolar , Codón , Análisis Mutacional de ADN , Cartilla de ADN/genética , Enzimas de Restricción del ADN/genética , Electroforesis en Gel de Agar/métodos , Exones , Femenino , Genotipo , Heterocigoto , Humanos , Hiperparatiroidismo/epidemiología , Hiperparatiroidismo/genética , Lactante , Masculino , Persona de Mediana Edad , Neoplasia Endocrina Múltiple Tipo 2b/epidemiología , Desnaturalización de Ácido Nucleico/genética , Linaje , Fenotipo , Feocromocitoma/epidemiología , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , Prevalencia , España/epidemiología , Neoplasias de la Tiroides/epidemiología
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