Primary dermal melanoma in a patient with a history of multiple malignancies: a case report with molecular characterization

Introduction: Primary dermal melanoma (PDM) is a recently described clinical entity accounting for less than 1% of all melanomas. Histologically, it is located in the dermis or subcutaneous tissue, and it shows no connections with the overlying epidermis. The differential diagnosis is principally made along with that of metastatic cutaneous melanoma. Case Report: A 72-year-old Caucasian woman with a history of multiple cancers (metachro-nous bilateral breast cancer, meningioma, clear cell renal cell carcinoma, uterine fibromatosis and intestinal adenomatous polyposis), came to our attention with a nodular lesion on her back. After removal of the lesion, the histology report indicated malignant PDM or metastatic malignant melanoma. The clinical and instrumental evaluation of the patient did not reveal any other primary tumour, suggesting the primitive nature of the lesion. The absence of an epithelial component argued for a histological diagnosis of PDM. Subsequently, the patient underwent a wide surgical excision with sentinel node biopsy, which was positive for metastatic melanoma. Finally, the mutational status was studied in the main genes that regulate proliferation, apoptosis and cellular senescence. No pathogenetic mutations in CDKN2A, BRAF, NRAS, KRAS, cKIT, TP53 and PTEN genes were observed. This suggests that alternative pathways and low-frequency alterations may be involved. Conclusions: The differential diagnosis between PDM and isolated metastatic melanoma depends on the negativity of imaging studies and clinical findings for other primary lesions. This distinction is important because 5-year survival rates in such cases are higher than in metastatic cases (80– 100 vs. 5–20%, respectively)

Immunohistochemistry and biomolecular investigation for the evidence of JSRV-like retrovirus in human bronchiolo-alveolar carcinomas

The bronchioloalveolar adenocarcinoma was described in several species (human, bovine, ovine and domestic carnivores). Ovine pulmonary adenocarcinoma (OPA) or pulmonary adenomatosis is a contagious carcinoma of sheep caused by an exogenous type D retrovirus denominated also jaagsiekte sheep retrovirus (JSRV). JSRV is responsible of the neoplastic transformation of type II pneumocytes and Clara cells. The human bronchioloalveolar adenocarcinoma (BAC) have histo-morphological features much similar to OPA. We report the study about ten BAC cases and one negative human control (lung). DNA extraction, PCR, sequencing of amplified product, immunohistochemistry and insitu hybridization were performed on all paraffin-embedded samples. Our results demonstrated the presence of JSRVlike sequences in all cases of human bronchiolo-alveolar carcinoma

Detection of <i>Mycobacterium avium</i> subsp. <i>paratuberculosis</i> (MAP) in animals and human tissue

The aim of this work was the detection of MAP in human with CD and in ovine with natural and experimental PTBC, by in “situ” techniques. ISH showed strong signals in the macrophages infiltrating the mucosal and submucosal layers in PTBC samples and positive signals in macrophages of CD cases. Furthermore, ISPCR signals were more numerous than those obtained by ISH. This result indicate that ISPCR is able to detect also less copies of MAP DNA

skin reaction in antiviral therapy for chronic hepatitis c a role for polyethylene glycol interferon

In the past decade, different modalities of antiviral therapy have been adopted aimed at eradicating hepatitis C virus infection. Initially, interferon was used in monotherapy, then interferon combined with ribavirin and amantadine. Recently, interferon has been conjugated with polyethylene glycol to allow optimization of its pharmacokinetic properties and to improve its antiviral activity. This study focused on the characteristics of the skin reactions that we observed in 27 patients with naive hepatitis C who received polyethylene glycol interferon-ribavirin-amantadine or polyethylene glycol interferon-ribavirin and in 10 previous non-responders to interferon monotherapy who were retreated with triple therapy. In 9 patients (7 on triple therapy) dermatitis-like lesions were observed, and in 5 the severity of the lesions necessitated withdrawal from therapy

Identification of Mycobacterium avium subsp. paratuberculosis in Biopsy Specimens from Patients with Crohn's Disease Identified by In Situ Hybridization

Crohn's disease is a chronic inflammatory disease of the gastrointestinal tract of unknown etiology. We report on the presence of cell wall-deficient Mycobacterium avium subsp. paratuberculosis in 35 of 48 paraffin-embedded tissue specimens from 33 patients with Crohn's disease by in situ hybridization with IS900 as a probe

<i>Mycobacterium avium</i> sub. <i>paratuberculosis</i> in tissue samples of Crohn's disease patients

Crohn's disease is a non-specific chronic transmural inflammatory disease. The disease was associated with a frameshit mutation in the NOD2 gene. Nevertheless, other researchers associated the presence of M. paratuberculosis within the intestinal tissues of patients with the disease. An adapted "in situ hybridization" technique was used to detect IS900 M. paratuberculosis DNA in paraffin embedded tissue from Crohns tissue disease samples. We were able to identify M. paratuberculosis DNA in around 69% of the paraffine embedded intestinal samples of Crohn's disease patients analysed. The presence of M. paratuberculosis DNA in the intestinal samples analysed does not necessarily mean that M. paratuberculosis is responsible for Crohn's disease. Our results support the hypothesis that infection may be caused by cell wall defective M. paratuberculosis since no bacteria were detected by Ziehl Neelsen stain