Search

Basal cell carcinoma is the most common cutaneous malignant tumor and usually arises from the facial skin and is diagnosed as the solid tumor. However, rarely it arises from genital skin and/or proceeds with ulcerative manner. We report a case of male basal cell carcinoma arising from penile base, which showed urinary disturbance. Tumor resection including total penectomy and skin resection was performed then scrotal myofasciocutaneous flap was used to cover the defect. Scrotal myofasciocutaneous flap was useful for covering the defect in the genital lesion. Moreover, this simple closure was helpful for early postoperative ambulation especially for aged male patients., (© 2016 Wiley Periodicals, Inc.)

Extramammary Paget's disease (EMPD) is regarded as a malignancy most likely derived from or differentiated into apocrine sweat duct and gland. The tumor cells in EMPD usually have abundant pale cytoplasm and large pleomorphic nuclei. We present a case with EMPD where the tumor included many signet ring cells, cells with intracytoplasmic lumen formation and glandular formation. This case is interesting in that the tumor included many cells with intracytoplasmic lumen formation. Signet ring cells and glandular formation support the traditional speculation that EMPD is derived from apocrine sweat gland and intracytoplasmic lumen formation may mimic the intrafollicular apocrine duct.

A 46-year-old man had a cystic mass on the right side of his scalp. Histological examination revealed a cystic dermal nodule composed of relatively circumscribed lobules of proliferating squamous epithelium, with atypical mitoses and dyskeratotic cells of invasive structure, which was diagnosed as proliferating tricholemmal cystic carcinoma (PTCC). Most of the cyst was composed of thick layers of highly proliferating, atypical, dedifferentiated epithelium (dedifferentiated part), which was attached to a highly proliferative but mildly differentiated part. A completely differentiated, tricholemmal cyst (TC)-like part was also attached to the main cyst, which supports the idea of PTCC beginning in a pre-existing TC. The dedifferentiated and mildly differentiated parts exhibited a high frequency of proliferating cell nuclear antigen (PCNA)-positive cells both in the basal and the suprabasal layers, while PCNA staining was almost negative in the TC-like part. Expression of cytokeratin (CK)10 and CK16 suggested disturbed epidermal differentiation in dedifferentiated part, while TC-like part showed well-differentiated trichilemmal epithelium and the mildly differentiated part was in the middle of these two., (Copyright Blackwell Munksgaard 2008.)

Fusion of the collagen type I a 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been pointed out in dermatofibrosarcoma protuberans. Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene. We studied the breakpoints of the COL1A1 gene using formalin-fixed, paraffin-embedded tumour specimens from five patients with dermatofibrosarcoma protuberans (three reconfirmations and two new cases). Reverse transcriptase-PCR was performed using paraffin-embedded tissues. Nucleotide sequence analysis was carried out using the PCR products to identify the breakpoints. The COL1A1-PDGFB fusion transcripts were detected from the tumour specimens. Sequence analysis revealed that the ends of exons 18, 29, 38, 42 and 44 in the COL1A1 gene were fused with the start of exon 2 in the PDGFB. This study identified a novel COL1A1 breakpoint, namely, exon 44 of the COL1A1 gene. Detection of the aberrant fusion transcript using formalin-fixed, paraffin-embedded tumour specimens is useful as a diagnostic aid for dermatofibrosarcoma protuberans in cases where fresh or frozen samples of tumour tissue are not available.

Background: Fusion of the collagen type I alpha 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been pointed out in dermatofibrosarcoma protuberans (DFSP). Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene., Objective: We studied the breakpoints of the COL1A1 gene using the tumor specimens from three patients with DFSP., Methods: Reverse transcriptase-polymerase chain reaction (PCR) was performed using cultured DFSP tumor cells or frozen tissue. Nucleotide sequence analysis was carried out using the PCR products to identify the breakpoints., Results: Cases 1, 2 and 3 were diagnosed as ordinary DFSP, DFSP with fibrosarcomatous lesion (DFSP-FS) and lung metastasis of DFSP-FS, respectively. The COL1A1-PDGFB fusion transcripts were detected from the tumor specimens. Sequence analysis revealed that the ends of exons 42, 29 and 38 in the COL1A1 gene were fused with the start of exon 2 in the PDGFB gene in case 1, 2 and 3, respectively., Conclusion: This study identified a novel COL1A1 breakpoint, namely, exon 42 of the COL1A1 gene. Detection of the aberrant fusion transcript seems to be useful at differential diagnosis both in primary and metastatic lesions.