Journal of Pathology and Translational Medicine

Case Study

Paediatric Primary Pachymeningeal Xanthogranuloma with Scattered Foci Displaying Reticulohistiocytoma-like Features: Miguel Fdo. Salazar, María del Rocío Estrada Hernández, Erick Gómez Apo, Laura G. Chávez Macías, Carlos Alfonso Rodríguez Álvarez; J Pathol Transl Med. 2015;49(5):403-408. Published online June 17, 2015; DOI: https://doi.org/10.4132/jptm.2015.05.28

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We report a unique case of a 4-year-old girl with an intriguing fibrohistiocytic tumour. Magnetic resonance imaging scans showed a dural mass of variegated intensity compressing the left occipital pole and apparently extending toward the superior sagittal sinus. Grossly, the cut surface of the surgical specimen was yellow, pale, and soft with reddish kernel-like crusts. Histologically, the yellow areas resembled cholesterol granulomas with widespread coagulative necrosis, cholesterol clefts, powdery calcification, foreign body-type giant cells, and foamy macrophages, while the scattered red spots contained numerous multinucleated giant cells of foreign-body and Touton types, the former with amphophilic to slightly eosinophilic cytoplasm. Immunoperoxidase reactions confirmed the expression of histiocytic markers and vimentin. As far as we know, no tumour displaying these peculiar morphological features has yet been described.

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Reticulohistiocytoses: a revision of the full spectrum
A. Bonometti, E. Berti
Journal of the European Academy of Dermatology and Venereology.2020; 34(8): 1684. CrossRef

Original Articles

Loss of Heterozygosity at VHL, FHIT, and p16 Loci in Nonpapillary Renal Cell Carcinoma.: Won Sang Park, Seung Myung Dong, Yong Hyun Cho, Tae Gon Hwang, Su Young Kim, Min Sun Shin, Jae Ho Pi, Suk Hyung Lee, Nam Jin Yoo, Jung Young Lee; Korean J Pathol. 1999;33(1):8-14.

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Abstract PDF: The objectives of this study were to characterize the alterations of 3p and 9p in sporadic renal cell carcinomas (RCC) and to assess the relationship between the clinical stages or tumor size and the alteration of these chromosomes. Thirty eight archival, paraffin embedded tissue sections from 38 patients with RCC were analyzed for loss of heterozygosity (LOH) at 3p and 9p with 11 microsatellite markers. LOH was detected in 81.6% (31/38) and 37.8% (14/37) at 3p and 9p, respectively. The frequencies of LOH at VHL and FHIT locus were 75.6% and 72.2%, respectively. Twelve cases out of 38 showed LOH at both 9p21 and 3p. The loss of 3p in the samples tested was not related to clinical stages and tumor size, but that of 9p21 was significantly associated with advanced stage and larger tumor size. These results support that 3p deletion, including VHL and FHIT gene, play a critical role in the tumorigenesis of sporadic RCC, especially at early stage, and that 9p21 may contribute to the progression of sporadic RCC.

Loss of Heterozygosity of Chromosome 3p in Squamous Cell Carcinomas and Adenocarcinomas of the Lung.: Gyeong Shin Park, Young Shin Kim, Kyo Young Lee, Chang Suk Kang, Sang In Shim, Byung Kee Kim; Korean J Pathol. 1999;33(3):151-157.

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Abstract PDF: We evaluated the frequency of genetic alteration of chromosome 3p in lung cancer, and analyzed the patterns of genetic alterations between two distinct histologic types, squamous cell carcinomas (SCC) and adenocarcinomas (AC). PCR-LOH analysis for 40 Korean non-small cell lung cancer including 20 SCC and 20 AC was performed using microsatellite markers, D3S1300, D3S1029 and D3S1038. These markers represented the loci of FHIT gene (3p14), mismatch repair gene hMLH1 (3p21) and VHL gene (3p25), respectively. For SCC, the frequency of LOH at D3S1300, D3S1029 and D3S1038 was 78.6%, 61.5% and 64.3%, and for AC, was 62.5%, 62.5% and 46.7%, and for total 40 cases of SCC and AC, was 70.0%, 62.1% and 55.2%, respectively. Among 27 cases showing heterozygosity at three examined loci, 7 cases (25.9%) revealed LOH at only one locus and 16 cases (59.3%) revealed LOH at two or three loci. The differences of incidence of LOH and the patterns of genetic alterations at chromosome 3p between two distinct histologic types of lung cancer were not significant. The genetic deletion of relatively broad area, including more than two loci, was more frequent than that of small area, including only one locus.

Case Report

Solitary Cutaneous Reticulohistiocytoma On the Upper Lip: A Case Report.: Jae Wang Kim, Hyun Wook Kang; Korean J Pathol. 2006;40(5):373-376.

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Abstract PDF: Reticulohistiocytosis represents a rare spectrum of non-Langerhans cell histiocytosis: the solitary cutaneous form (reticulohistiocytoma), the diffuse or multiple cutaneous form without systemic involvement, and multicentric reticulohistiocytosis with systemic involvement. To the best of our knowledge, there have been relatively few reports in the literature of solitary cutaneous reticulohistiocytoma found on the lip. We report here on a case of solitary cutaneous reticulohistiocytoma in a 58-year-old male, who presented with an asymptomatic dome-shaped nodule adjacent to the upper lip. The histopathologic examination revealed a dense dermal infiltrate, that was composed predominantly of large oncocytic histiocytes and multinucleated giant cells with abundant granular eosinophilic cytoplasms, which had a "ground-glass" appearance.

Original Article

Mutation of Adenomatous Polyposis Coli Gene in Human Stomach Cancer.: Won Sang Park, Mun Gan Rhyu, Sug Hyung Lee, Yun Jun Chung, Gum Ryong Kim, Choo Soung Kim; Korean J Pathol. 1993;27(1):34-39.

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Abstract PDF: Recently the adenomaatous polyposis coli(APC) gene, a tumor suppressor gene, was identified and the cDNA was cloned from chromosome 5q21. Allelic deletion or point mutation of tumor suppressor genes(TSGs) has been considered as an important mechanism in development of human tumor. Point mutations affecting APC gene are seen in the hereditary syndrome, adenomatous polyposis and spordic colon cancer. However, the mutation of APC gene and other TSGs have not been described in gastric cancer. In order to identify the mutation of exon 11 of APC gene for gastric cancer, we amplified DNA extracted from paraffin-embedded tissues by polymerase chain reaction(PCR) and digested the PCR products with restriction enzyme Rsa I. We examined the DNA extracted from paraffin-embedded 44 gastric cancer tissues with lymph nodes. Eighteen(41%) among 44 were informative for the study exon 11 of the APC gene, and we found loss of heterozygosity(LOH) for APC in 6/18(33.3%). These data suggest that the point mutation or the base change of APC gene commonly occurs in gastric cancer. We conclude that the mutation of APC gene is strongly connected with development of human gastric cancer.

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