[Show abstract][Hide abstract] ABSTRACT: Dermatofibrosarcoma protuberans (DFSP) is a rare skin cancer that develops in the deep dermis to subcutaneous adipose tissues. A COL1A1-PDGFB gene fusion, leading to the constitutive expression of PDGFB, is the tumorigenic mechanism in most DFSP cases.
To evaluate the specificity of PDGFB expression as a diagnostic marker of DFSP and to determine whether other pathomechanisms (ie, gene fusions) exist in patients with DFSP without the COL1A1-PDGFB fusion gene.
All patients with DFSP registered in the pathologic database of the University of the Ryukyus from January 1, 1997, through December 31, 2013, and Gunma University from January 1, 1996, through December 31, 2011, were included in this analysis. Samples were obtained from 30 patients presenting with DFSP tumors. We examined the clinicopathologic characteristics and the expression of PDGFB, PDGFRβ, PDGFRα, CD34, nestin, factor XIIIa, fibronectin, α-smooth muscle actin, S-100 protein, and Ki-67 in 30 DFSP cases and 48 non-DFSP mesenchymal tumor cases by immunohistochemical analysis. We then analyzed tumor tissues for the presence of the COL1A1-PDGFB fusion gene. We also tested whether other genes enriched in fibroblasts formed fusion products with PDGFB by reverse transcription-polymerase chain reaction analysis, using gene-specific primers.
We aimed to analyze tumor tissues for the presence of the COL1A1-PDGFB fusion gene to investigate expression of PDGFB in DFSP tumors.
PDGFB expression was detected in 28 (93%) of 30 patients with DFSP. PDGFB was not homogenously expressed in DFSP tumor cells, whereas CD34 and nestin were often expressed throughout the tumor mass. In 1 DFSP tumor, the COL1A1-PDGFB fusion gene was not detected even though PDGFB was expressed. We identified a novel COL1A2-PDGFB fusion gene in this tumor.
Our findings indicate that PDGFB protein is expressed in most DFSP tumors and may be a useful diagnostic tool when used in conjunction with CD34 and nestin expression analysis. These PDGFB expression data, in addition to our discovery of a novel PDGF fusion gene, strongly support the concept that DFSP is a PDGFB-dependent tumor type.
[Show abstract][Hide abstract] ABSTRACT: A 74 year-old-man presented with a 5-year history of nail dystrophy with recurrence of subungual pustules on the distal portion of his right thumb. He had been misdiagnosed as tinea unguium and treated with topical and oral antifungal agents without any improvement. He was referred to our outpatient center and showed erythema, crusting, swelling, subungual pustules and nail dystrophy that was limited to his right thumb. Culture and microscopic examination for bacteria and fungi of the nail were performed several times, but no causative agent was observed. The histological examination of biopsy specimens showed hyperkeratosis, parakeratosis, regular elongation of rete ridges and Kogoj's microabsecces, and the patient was diagnosed as acrodermatitis continua of Hallopeau. Topical treatment with clobetasol propionate and calcipotriol improved his nail dystrophy, and the subungual pustules had disappeared after four month. We analyzed 17 cases of acrodermatitis continua of Hallopeau reported in Japan since 1984, including our case. Of the 17 cases, 10 cases were observed with nail dystrophy limited to only one finger at the onset, and it is suggested that such localized cases are not rare.
No preview · Article · Jan 2013 · Nishi Nihon Hifuka
[Show abstract][Hide abstract] ABSTRACT: A 28-year-old native Micronesian man, working as a soldier on a US base in Okinawa, Japan suffered from multiple small papules and nodules, light to dark red in color. These lesions arose first on his limbs and gradually extended to the whole body in two months without any subjective symptoms. Histological findings showed a dense granuloma formation throughout the dermis, composed of histiocytes harboring foamy or vacuolated cytoplasm. A thin, subepidermal clear-zone was preserved between the basal layer and edge of the granuloma tissue of the upper dermis. In a Fite stain section, thousands of acid-fast bacilli were found to form multiple globi in the cytoplasm of the histiocytes at the dermal granulomas. Additionally, numerous red, acid-fast bacteria were confirmed on the skin and in nasal mucosal smear sections by a Ziehl-Neelsen stain. The patient also noticed sensory obtunding at the skin surface close to the cutaneous lesion, even though the peripheral nerve had not shown any thickening. He was diagnosed with lepromatous leprosy from clinical findings, pathological findings and the results of PCR amplification which identified the DNA fragments of Mycobacterium leprae. Since the patient belonged to the US army, he was treated at a Guam military base hospital. In the Federated States of Micronesia where the patient was born and raised, outbreaks of Hansen's disease patients have been reported from 1980s through the 90s, and new cases persist in this area today.
No preview · Article · Jan 2013 · Nishi Nihon Hifuka
[Show abstract][Hide abstract] ABSTRACT: A 45-year-old man was referred to our hospital with a history of multiple erythematous skin lesions of several months' duration. Blood examination revealed extreme hypoproteinemia and hypoalbuminemia, as well as the presence of antinuclear antibodies. A skin biopsy specimen showed liquefaction degeneration at the dermoepidermal junction and dense lymphocyte and neutrophil infiltration around the vessels and appendages in the upper and middle dermis. Chest X-ray and computed tomography showed a pleural effusion and thoracic paracentesis revealed a mononuclear cell-dominant cell infiltration, suggestive of serositis. Technetium-99m ((99m)Tc)-labeled human serum albumin scintigraphy and α(1)-antitrypsin clearance revealed protein leakage along the digestive tracts from the stomach to the jejunum. From the above findings, the patient was diagnosed with systemic lupus erythematosus (SLE) complicated by protein-losing enteropathy (PLE). Treatment with oral prednisolone significantly improved his clinical symptoms and hypoalbuminemia. This case highlighted the utility of (99m)Tc-labeled human serum albumin scintigraphy and α(1)-antitrypsin clearance in the diagnosis of PLE. We also present a published work review on PLE associated with connective tissue disease revealing a relatively higher prevalence in patients of Asian ethnicity, including Japanese.
No preview · Article · Oct 2011 · The Journal of Dermatology
[Show abstract][Hide abstract] ABSTRACT: A 57-year-old man had been aware of a verrucous nodule, 2-3 cm in size, on the left buttock since childhood. The nodule increased in size and formed an ulcer in November 2006. He ignored it for a while. Then in March 2007 he visited a nearby physician because of difficulty in sitting. Biopsy revealed a well-differentiated squamous cell carcinoma (SCC), and he was referred to our hospital immediately. Physical examination revealed a tumor on his left buttock, 130 × 90 × 15 mm in size, with ulcerations and an irregular surface. It bled easily and was surrounded by a scar. He had complained of general fatigue recently. Results of laboratory examination indicated hypercalcemia and elevations of parathyroid hormone-related protein (PTH-rP) and SCC-related antigen. QuantiFERON-TB2G (QFT) was positive. Administration of pamidronate (bisphosphonate) and elcatonin with fluid infusion normalized serum calcium values. The tumor was excised, and chemotherapy was performed. No recurrence or metastasis of the tumor has been detected 11 months after the operation. Postoperative histopathological examination revealed caseation granuloma with Langhans giant cells in the lymph nodes in the pelvic cavity. This fact together with the atrophic scar around the tumor, suggested the diagnosis of tubercular lymphadenitis and tuberculosis cutis. We considered that the etiological factors of the SCC in this patient might involve tubercular diseases.
No preview · Article · Jan 2009 · Nishi Nihon Hifuka