Background:Germline mutations in BRCA1 and BRCA2 predispose to pancreatic cancer. We estimated the incidence of pancreatic cancer in a cohort of female carriers of BRCA1 and BRCA2 mutation. We also estimated survival rates in pancreatic cancer cases from families with a BRCA mutation.Methods:We followed 5149 women with a mutation for new cases of pancreatic cancer. The standardised incidence ratios (SIR) for pancreatic cancer were calculated based on age group and country of residence. We also reviewed the pedigrees of 8140 pedigrees with a BRCA1 or a BRCA2 mutation for those with a case of pancreatic cancer. We recorded the year of diagnosis and the year of death for 351 identified cases.Results:Eight incident pancreatic cancer cases were identified among all mutation carriers. The SIR for BRCA1 carriers was 2.55 (95% CI=1.03–5.31, P=0.04) and for BRCA2 carriers was 2.13 (95% CI=0.36–7.03, P=0.3). The 5-year survival rate was 5% for cases from a BRCA1 family and 4% for cases from a BRCA2 family.Conclusion:The risk of pancreatic cancer is approximately doubled in female BRCA carriers. The poor survival in familial pancreatic cancer underscores the need for novel anti-tumoural strategies.

Background: The BRCA1 and BRCA2 genes confer increased susceptibility to breast and ovarian cancer and to a spectrum of other cancers. There is controversy regarding the risk of colorectal cancer conferred by germline mutations in these two genes.

BackgroundAlthough Becker's nevus (BN) is a relatively common disease, the systematic studies of clinicopathological and immunohistochemical results are poorly reported.ObjectiveTo investigate the clinicopathological features and immunohistochemical alterations of keratinocyte proliferation, melanocyte density, smooth muscle hyperplasia and nerve fiber distribution in BN.MethodsClinical and pathological data were collected in 60 newly-diagnosed BN cases. Immunohistochemical stain of Ki-67, Melan-A, keratin 15, smooth muscle actin and protein gene product 9.5 was performed in 21 cases.ResultsThe median diagnostic and onset age was 17 and 12 years, respectively. Skin lesions usually appeared on the upper trunk and upper limbs. The pathological features included the rete ridge elongation and fusion and basal hyperpigmentation. Epidermal Ki-67, Melan-A and keratin 15 expression and dermal nerve fiber length were significantly higher in lesional and perilesional skin than in normal skin (p<0.05~0.01), while smooth muscle actin expression was upregulated only in skin lesion (p<0.05).ConclusionAlthough the clinical diagnosis of BN is often straightforward, histopathology is helpful to differentiate from other pigmentary disorders. The hyperproliferation of keratinocytes, melanocytes, arrector pili muscle and dermal nerve fibers could be involved in the pathogenesis of BN.

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Chromoblastomycosis and phaeohyphomycosis represent two poles of a disease spectrum caused by melanized fungi. Veronaea botryosa belongs to a small genus of saprobic fungi that occasionally cause human infections. To date, 11 cases of V. botryosa-induced cutaneous phaeohyphomycosis have been actually reported since 1990 after exclusion of 2 duplicated cases. We report the first case to our knowledge of cutaneous chromoblastomycosis caused by V. botryosa in a patient with pemphigus vulgaris. A 61-year-old man with 5-year history of pemphigus vulgaris and long-term treatment of corticosteroids and immunosuppressive agents developed multiple nodules on the dorsum of right wrist and hand after wrist trauma. Skin biopsy showed numerous brown muriform cells and a few septate hyphae in the tissue. Veronaea botryosa was isolated from the biopsy samples and then identified based on morphologic observation and DNA sequencing. The patient underwent immediate withdrawal of cyclophosphamide and gradual decrease in prednisone. Skin lesions healed after 5-month itraconazole therapy with an interval of 1-month terbinafine and one cycle of liquid nitrogen cryotherapy. Our results demonstrate that V. botryosa could induce both chromoblastomycosis and phaeohyphomycosis. Combined use of itraconazole and cryotherapy may be preferable to treat this infection.