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X Matias-Guiu

Publications and source records attributed to X Matias-Guiu.

At least 55 records · Page 3Linked to original sources
PubMed1998

Müllerian inhibiting substance, alpha-inhibin, and CD99 expression in sex cord-stromal tumors and endometrioid ovarian carcinomas resembling sex cord-stromal tumors.

Müllerian inhibiting substance (MIS), alpha-inhibin, and CD99 are expressed by normal and neoplastic sex cord and stromal gonadal derivatives. The expression of MIS, inhibin, and CD99 was evaluated by immunohistochemistry in a series of 19 sex cord-stromal tumors and seven ovarian endometrioid carcinomas resembling sex cord-stromal tumors. Normal ovaries and testes from patients with the androgen insensitivity syndrome were used as control. All three markers were detected in primordial ovarian follicles and immature seminiferous tubules. Both inhibin and MIS were expressed by all sex cord-stromal tumors, but inhibin immunostaining appeared stronger and more diffusely distributed. CD99 was expressed by all adult and juvenile granulosa cell tumors, but only focally by Sertoli-Leydig cell tumors. In Sertoli-Leydig cell tumors, the three markers were predominantly expressed by the Sertoli cells. None of the seven endometrioid carcinomas with a sex cord-stromal pattern was positive for MIS or inhibin; two of them reacted for CD99, but their staining patterns were not membranous. Inhibin immunoreactivity was also detected in foci of stromal luteinization, occasionally present in these tumors. MIS, inhibin, and CD99 are potentially useful markers in the differential diagnosis between sex cord-stromal tumors and endometrioid carcinomas resembling sex cord-stromal tumors.

12E7 Antigen↗
PubMed1998

Multiple follicular hamartomas with sweat gland and sebaceous differentiation, vermiculate atrophoderma, milia, hypotrichosis, and late development of multiple basal cell carcinomas.

We describe a 46-year-old woman with multiple symmetrical papulocystic lesions on the face, neck, chest, back, and upper arms since childhood. Vermiculate atrophoderma, entropion, and progressive loss of eyelashes was also noted. Since the age of 30, 12 basal cell carcinomas have developed on the face. Histopathologic examination revealed multiple anastomosing nests and strands that arose from the lower part of a hair follicle in early lesions. In more advanced lesions, multiple keratinizing microcysts within a moderately sclerotic stroma were noted in the upper and mid dermis. In some biopsy specimens, focal areas showing sweat gland (ductal) and sebaceous differentiation were also observed. Basal cell carcinomas developed from the basaloid component of the hamartomatous proliferation.

Atrophy↗
PubMed1998

Clinical forms of presentation and evolution of diffuse sclerosing variant of papillary carcinoma and insular variant of follicular carcinoma of the thyroid.

We investigated whether the diffuse sclerosing variant of papillary carcinoma (diffuse sclerosing PC) and insular carcinoma (IC), two different subforms of differentiated carcinoma of the thyroid gland, have different clinical behaviors and prognosis in order to select appropriate therapy. The characteristics of clinical presentation, and outcome after therapy were evaluated in a series of 113 patients (18 males and 95 females) with differentiated thyroid carcinoma treated with the same protocol, of which 7 had diffuse sclerosing PC and 6 had IC; within this series, patients with diffuse sclerosing PC and IC were compared with 76 cases of papillary carcinoma (PC) and 24 cases of follicular carcinoma (FC), respectively. Diffuse sclerosing PC patients were younger (23+/-9 vs. 38+/-16 years) and had a higher degree of lymphatic metastases at diagnosis (100%) than patients with PC (47%). Five of 7 patients with diffuse sclerosing PC were alive and without evidence of disease compared to 34 of 76 patients with PC at follow-up (6.4+/-5.1 and 7.9+/-7 years, respectively). No prognostic differences were found between them. IC showed a more advanced stage of disease at diagnosis and a more aggressive clinical course with a higher percent of metastases and mortality than patients with FC at follow-up (1 patient died and 5 were alive with persistent disease at 4.8+/-3.7 years for IC; 22 were alive, 13 of them with persistent disease; and 2 died at 8.4+/-5.3 years for FC). We conclude that patients with diffuse sclerosing PC do not require a different treatment than that given to PC patients, while in contrast, IC cases need a more aggressive therapeutic approach.

Adenocarcinoma, Follicular↗
PubMed1998

BAX somatic frameshift mutations in endometrioid adenocarcinomas of the endometrium: evidence for a tumor progression role in endometrial carcinomas with microsatellite instability.

Microsatellite instability (MI) has been observed in endometrioid adenocarcinomas of the endometrium, either arising sporadically or in association with the hereditary colon cancer syndrome. Genes known to contain mononucleotide short tracts in their coding sequence are regarded as targets for mutations in these tumors. BAX is a proapoptotic gene that contains a tract of eight consecutive deoxyguanosines in its third coding exon. DNA of 26 patients with endometrial carcinoma was extracted from blood and from fresh-frozen and paraffin-embedded tumor tissue. For MI analysis, microsatellite loci on chromosomes 3, 5, 10, 12, and 18 were amplified by PCR. Frameshift mutations in the (G)8 tract of BAX were detected by single-strand conformation polymorphism (SSCP) analysis. MI at three or more loci was detected in 13 cases. BAX frameshift mutations were detected in seven MI+ tumors (53.8%), but in none of the 13 MI- neoplasms. In two cases, identical BAX frameshift mutations were detected in different areas of the neoplasm, whereas in the other five cases, BAX mutations were heterogeneously distributed throughout the tumor. Immunostaining with antibodies against the carboxy terminus of BAX protein was very useful in assessing the heterogeneous distribution of BAX frameshift mutations in the neoplasms. The results suggest that BAX frameshift mutations are frequent in endometrial carcinomas with MI, probably playing a role in the process of tumor progression of these neoplasms.

Base Sequence↗
PubMed1997

K-ras mutations in mucinous ovarian tumors: a clinicopathologic and molecular study of 95 cases.

BACKGROUND: To assess the role of K-ras mutations in the pathogenesis of mucinous ovarian tumors, the authors looked for K-ras point mutations at codons 12 and 13 in 95 mucinous ovarian neoplasms. The results were subsequently correlated with the clinicopathologic data. METHODS: Benign, borderline, and malignant mucinous ovarian tumors were identified microscopically. DNA was extracted from formalin fixed, paraffin embedded tissue, and target sequences were amplified in vitro by polymerase chain reaction. Mutations were detected by the presence of restriction fragment length polymorphisms artificially introduced by the use of mutant amplimers. In tumors containing areas that exhibited different histologic grade, precise microdissection of each of these areas was performed. The results were correlated with the clinical data and the morphologic features of the neoplasms. RESULTS: The overall frequency of codon 12/13 ras gene mutations was 68%. Codon 12 point mutations were present in 63% of the cases (55.7% of mucinous cystadenomas, 73% of borderline tumors, and 85% of carcinomas). Codon 13 mutations were detected in 11.5% of the tumors (five cystadenomas, three borderline tumors, and three carcinomas). Eight tumors (three benign, two borderline, and three malignant) exhibited mutations at codons 12 and 13. In 12 of the 15 tumors with 2 areas showing different histologic grade, identical point mutations were detected separately in both areas. CONCLUSIONS: The results of this study confirm that K-ras mutations do occur in benign and particularly in malignant mucinous ovarian tumors. The authors' findings support the hypothesis that K-ras mutational activation is an early event in mucinous ovarian tumorigenesis.

Adolescent↗
PubMed1997

Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma.

OBJECTIVE: To study the presence of germline mutations in the von Hippel-Lindau gene (vhl) in a kindred with a predominance of familial phaeochromocytoma in order to confirm the diagnosis of von Hippel-Lindau disease (VHLD) as well as to identify asymptomatic members. DESIGN: DNA extracted from peripheral blood was amplified by the polymerase chain reaction using oligonucleotide primers corresponding to exon 3 of the vhl gene. Specific mutations in codon 238 were screened by restriction endonuclease digestion of PCR products with Msp I. The results were confirmed by DNA sequence analysis. PATIENTS: Two generations of a family consisting of 15 individuals were studied. RESULTS: A germline missense point mutation at codon 238 of the vhl gene (CGG-->TGG; Arg-->Trp) was detected in all patients with phaeochromocytoma and in only one of the asymptomatic family members. CONCLUSION: Mutational analysis of the vhl gene in patients with familial phaeochromocytoma may permit specific diagnosis of von Hippel-Lindau disease, and is a good method for the identification of asymptomatic individuals at risk of von Hippel-Lindau disease.

Adolescent↗
PubMed1997

Thyroid paraganglioma: a clinicopathologic and immunohistochemical study of three cases.

We report three cases of intrathyroidal paraganglioma. The patients were adult women without significant personal or family histories that presented with an asymptomatic thyroid nodule. The tumors were single, well-circumscribed solid masses, 2 cm in greatest diameter, located within one thyroid lobe. Microscopically, they were encapsulated and showed the typical nesting (Zellballen) pattern of paraganglioma in other sites. Two of the tumors were composed of small- to medium-sized cells with granular amphophilic cytoplasm, and the third consisted of relatively large cells having a similar staining quality. Immunohistochemically, all tumors showed positivity for neuron-specific enolase, chromogranin A, and synaptophysin. S-100 protein-positive sustentacular cells were demonstrated in each case. Negative staining for epithelial markers, thyroglobulin, carcinoembryonic antigen, calcitonin, calcitonin gene-related peptide, serotonin, vimentin, and Congo red excluded other tumors that were considered in the differential diagnosis, such as medullary carcinoma, hyalinizing trabecular adenoma, atypical follicular adenoma, Hurthle-cell neoplasm, and metastatic carcinoid tumor. The patients were alive and well without evidence of recurrent disease at the time of the last follow-up. The previous literature on these tumors is discussed. We conclude that intrathyroidal paraganglioma exists and that this tumor can be distinguished from other similar-appearing neoplasms in this organ.

Biomarkers, Tumor↗
PubMed1997

Metastatic neuroendocrine tumors to the thyroid gland mimicking medullary carcinoma: a pathologic and immunohistochemical study of six cases.

The clinical, pathological, and immunohistochemical features of six cases of metastatic neuroendocrine and carcinoid tumors to the thyroid simulating medullary thyroid carcinoma (MTC) are described. The patients were women between the ages of 24 and 70 years who, without symptoms or significant past medical histories, presented with either a single mass or multiple thyroid nodules. The primary source of the tumor was only discovered on follow-up. Two of the neoplasms were classical carcinoid tumors, one was a carcinoid predominantly composed of large cells, another showed a prominent oval to spindle cell component, and the two remaining cases were atypical carcinoid/high-grade neuroendocrine carcinomas. The immunohistochemical profile was inconsistent with MTC in that all tumors were negative for calcitonin and only two were focally positive for carcinoembryonic antigen (CEA). A variable pattern of staining for other neuroendocrine and epithelial markers was obtained in each case. Despite the morphologic and immunohistochemical similarities with MTC, the diagnosis of a metastatic neuroendocrine tumor to the thyroid should be favored in the presence of a predominantly interstitial pattern of spread; occurrence of multiple tumor foci; folliculotropism; rosette formations with lumen and cuticular borders; and lack of immunoreactivity for calcitonin and CEA. The differential diagnosis between MTC and metastatic neuroendocrine carcinoma to the thyroid is of importance because of the vast differences in treatment and prognosis.

Adult↗
PubMed1997

Multiple idiopathic mucosal neuromas: a minor form of multiple endocrine neoplasia type 2B or a new entity?

Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant process characterized by medullary thyroid carcinoma, pheochromocytoma, and mucosal neuromas. A point mutation at codon 918 of the RET protooncogene has been observed in approximately 90% of patients and families with MEN 2B. Mucosal neuromas are the most consistent and distinctive feature (100% of patients) of MEN 2B and are considered pathognomonic. We describe a 35-year-old woman with mucosal neuromas of the lower lip and tongue that appeared in early childhood. Examination did not reveal other abnormalities. After a follow-up of more than 22 years with periodic clinical, biochemical, and radiologic studies, no evidence of MEN 2B has been detected. Analysis of the RET protooncogene exons 10, 11, and 16 did not demonstrate point mutation in the MEN 2B region (M918T).

Adult↗
PubMed1997

Clear cell tumors of the female genital tract.

Clear cell adenocarcinomas of the vagina, cervix, endometrium, and ovaries show very similar histological features. Several other tumors and tumor-like lesions of the female genital tract may also contain clear cells and may occasionally be misinterpreted as clear cell adenocarcinomas. These conditions include microglandular hyperplasia, mesonephric hyperplasia, Arias-Stella change, smooth muscle tumors containing clear cells, dysgerminoma, yolk sac tumor, metastatic renal cell carcinoma, steroid cell tumors, hepatoid carcinomas, signet-ring-cell stromal tumors, and trophoblastic tumors. This review discusses the histological features of all of these lesions, emphasizing the morphological aspects that are essential to accurate differential diagnosis.

Adenocarcinoma, Clear Cell↗
PubMed1996

Spontaneous rupture of the spleen associated with pneumonia.

Spontaneous rupture of the spleen is a rare and life-threatening complication of bacterial pneumonia, only six properly documented cases having been reported to date. A case of spontaneous splenic rupture associated with pneumonia caused by Legionella pneumophila is presented, together with a review of the literature. Most of the patients were aged over 50, but none had predisposing conditions. Left lung involvement predominated. Legionellosis and Q fever were the most frequent etiologic diagnoses. Empiric antibiotic therapy was adequate in all but two patients. One patient died; he had not undergone laparotomy. Spontaneous rupture of the spleen is an extremely rare complication of bacterial pneumonia that endangers the patient's life if surgery is not performed immediately. This complication should be borne in mind in patients with atypical pneumonia who have left quadrant pain and a falling hematocrit, even in the absence of prior splenomegaly.

Adult↗
PubMed1996

p53 in a thyroid follicular carcinoma with foci of poorly differentiated and anaplastic carcinoma.

The clinical and pathologic features of a rare case of follicular carcinoma with small foci of poorly differentiated and anaplastic carcinoma are presented. Eight years after the removal of the primary neoplasm, the patient developed pulmonary and brain metastases that were predominantly composed of the poorly differentiated and anaplastic components. A comparative immunohistochemical and molecular analysis of p53 status in the follicular, poorly differentiated and anaplastic components of the tumor was performed. p53 immunostaining was restricted to the poorly differentiated and anaplastic areas. Single strand conformation polymorphism analysis (SSCP-PCR) from DNA obtained by microdissection demonstrated the presence of a mutation (TAT-->TGT; Tyr-->Cys) in codon 220, exon six of the p53 gene in the anaplastic component, that was absent in the well-differentiated follicular areas. The results of that study in this rare tumor support that p53 has a tumor progression role in thyroid tumorigenesis.

Adenocarcinoma, Follicular↗
PubMed1996

Synchronous mucinous tumors of the appendix and the ovary associated with pseudomyxoma peritonei. A clinicopathologic study of six cases with comparative analysis of c-Ki-ras mutations.

Mucinous tumors of the ovary are often associated with mucinous tumors of the appendix. It has not been clearly determined whether they are independent or metastatic neoplasms. A clinicopathologic study and a comparative analysis of c-Ki-ras mutations were done in six cases of synchronous ovarian and appendiceal tumors. The clinicopathologic features (simultaneous presentation, bilaterality or right-sided predominance, similar histopathologic findings, presence of pseudomyxoma peritonei) suggested that they were primary appendiceal tumors metastatic to the ovaries. DNA was extracted from formalin-fixed, paraffin-embedded tissue, and target sequences were amplified in vitro by the polymerase chain reaction. Mutations were detected by the presence of restriction fragment length polymorphism, artificially introduced by the use of mutant amplimers. The pattern of c-Ki-ras mutations was identical in the ovarian and appendiceal tumors of all patients. Four patients had a GGT --> GAT (Gly --> Asp) transition and one a GGT --> GTT (Gly --> Val) transversion, all detected in codon 12. No mutation was found in the sixth patient in either the ovarian or the appendiceal tumor. Because c-Ki-ras mutations are considered to represent an early event in tumorigenesis, our results support a clonal nature for both tumors and suggest that they are not independent tumors but rather originate one from another.

Adenocarcinoma, Mucinous↗
PubMed1996

Ras oncogene mutations in thyroid tumors: polymerase chain reaction-restriction-fragment-length polymorphism analysis from paraffin-embedded tissues.

Ras mutations have been found in thyroid lesions. Different studies have shown different frequencies of mutations among benign and malignant lesions. The presence of point mutations in codons 12 and 13 of the c-K-ras, c-H-ras, and N-ras genes was studied in 58 thyroid lesions (10 nodular goiters, 10 follicular adenomas, and 15 papillary, 10 follicular, and 13 anaplastic carcinomas). DNA was extracted from formalin-fixed paraffin-embedded tissue, and target sequences were amplified in vitro by the polymerase chain reaction. Mutations were detected by the presence of restriction-fragment-length polymorphisms either occurring naturally or introduced artificially by the use of mutant primers. No characterization of the mutations was performed. Results were correlated with clinicopathologic features and patient follow-up. One goiter showed a mutation at codon 13, c-K-ras. All follicular adenomas, including three hyalinizing trabecular adenomas, were negative. Four papillary carcinomas presented mutations (one at codon 13, c-K-ras; three at codon 12, N-ras). Two follicular carcinomas showed mutations at codon 12, N-ras. Five anaplastic carcinomas showed mutations (two at codon 12 and two at codon 13, c-K-ras; one at codon 12, N-ras). In summary, the results confirm that ras oncogenes play a role in thyroid tumorigenesis, probably at an early step. Ras mutations appear not to be related to prognosis.

Adenoma↗