RESUMO
Li-Fraumeni syndrome (LFS) is a rare inherited cancer susceptibility disorder with a wide tumour spectrum, particularly in children and young adults. Patients with LFS have life-long cancer risk, and the most commonly encountered tumours include soft tissue sarcoma, breast cancer, brain tumours, osteosarcoma, leukaemia and adrenocortical carcinoma. LFS is associated with mutations in the tumour suppressor gene TP53, andnearly two-thirds of families with LFS have this germline mutation. However, the diagnosis of LFS is currently based on recognised strict clinical criteria regardless of the genetic mutation status, as a few families with the clinical characteristics and cancer predisposition of LFS do not have TP53 mutations. Breast cancer is particularly significant among the common malignancies associated with LFS as it is the most common cancer in women worldwide. We present a case of a 27-year-old woman with unilateral breast cancer, in whom further history revealed a brain tumour at the age of 14 years. Due to the early onset of breast cancer and history of childhood malignancy, we suspected LFS. Genetic testing revealed a TP53 mutation, further suggesting the diagnosis of LFS. This has important implications in managing this patient's breast cancer, as the need for risk-reducing mastectomy and arranging a special surveillance programme. It also has great implications for the patient's family members, especially in terms of psychological impact, particularly when the mutation has been detected in children. Also, there is a need for periodic surveillance, which can help in early diagnosis and timely treatment with a more favourable outcome.
RESUMO
Most patients with bowel cancer are symptomatic at the time of the diagnosis. They may present with a change in bowel habit, bleeding per rectum, abdominal pain, anaemia, weight loss or bowel obstruction. Colonic carcinoma can also be diagnosed incidentally during screening programs. Moreover, it may be incidentally detected in CT scans being performed for other indications or encountered during surgery for other causes. Some patients with colonic bowel ischaemia have associated large bowel cancer, where the ischaemic segment is usually proximal to the tumour and not necessarily associated with bowel obstruction. We are presenting a rare case of incidental malignant colonic polyp detected in a resected ischaemic large bowel in an 88-year-old gentleman. This was a very small tumour that was not visible macroscopically or detectable by imaging. Pathological examination of non-tumour colorectal resection specimens, as in this case, should include careful macroscopic examination and sequential block selection along the length of the colon, and where there is diffuse mucosal abnormality, block selection at 100mm interval is also advised. Attention to and block selection from any suspicious-looking area is warranted in all cases of non-tumour colorectal resections if such microscopic-sized malignancies of the type seen in our patient are to be picked up.
RESUMO
BACKGROUND: Venom immunotherapy (VIT) is commonly used for preventing further allergic reactions to insect stings in people who have had a sting reaction. The efficacy and safety of this treatment has not previously been assessed by a high-quality systematic review. OBJECTIVES: To assess the effects of immunotherapy using extracted insect venom for preventing further allergic reactions to insect stings in people who have had an allergic reaction to a sting. SEARCH METHODS: We searched the following databases up to February 2012: the Cochrane Skin Group Specialised Register, CENTRAL in The Cochrane Library, MEDLINE (from 1946), EMBASE (from 1974), PsycINFO (from 1806), AMED (from 1985), LILACS (from 1982), the Armed Forces Pest Management Board Literature Retrieval System, and OpenGrey. There were no language or publication status restrictions to our searches. We searched trials databases, abstracts from recent European and North American allergy meetings, and the references of identified review articles in order to identify further relevant trials. SELECTION CRITERIA: Randomised controlled trials of venom immunotherapy using standardised venom extract in insect sting allergy. DATA COLLECTION AND ANALYSIS: Two authors independently undertook study selection, data extraction, and assessment of risk of bias. We identified adverse events from included controlled trials and from a separate analysis of observational studies identified as part of a National Institute for Health and Clinical Excellence Health Technology Assessment. MAIN RESULTS: We identified 6 randomised controlled trials and 1 quasi-randomised controlled trial for inclusion in the review; the total number of participants was 392. The trials had some risk of bias because five of the trials did not blind outcome assessors to treatment allocation. The interventions included ant, bee, and wasp immunotherapy in children or adults with previous systemic or large local reactions to a sting, using sublingual (one trial) or subcutaneous (six trials) VIT. We found that VIT is effective for preventing systemic allergic reaction to an insect sting, which was our primary outcome measure. This applies whether the sting occurs accidentally or is given intentionally as part of a trial procedure.In the trials, 3/113 (2.7%) participants treated with VIT had a subsequent systemic allergic reaction to a sting, compared with 37/93 (39.8%) untreated participants (risk ratio [RR] 0.10, 95% confidence interval [CI] 0.03 to 0.28). The efficacy of VIT was similar across studies; we were unable to identify a patient group or mode of treatment with different efficacy, although these analyses were limited by small numbers. We were unable to confirm whether VIT prevents fatal reactions to insect stings, because of the rarity of this outcome.Venom immunotherapy was also effective for preventing large local reactions to a sting (5 studies; 112 follow-up stings; RR 0.41, 95% CI 0.24 to 0.69) and for improving quality of life (mean difference [MD] in favour of VIT 1.21 points on a 7-point scale, 95% CI 0.75 to 1.67).We found a significant risk of systemic adverse reaction to VIT treatment: 6 trials reported this outcome, in which 14 of 150 (9.3%) participants treated with VIT and 1 of 135 (0.7%) participants treated with placebo or no treatment suffered a systemic reaction to treatment (RR 8.16, 95% CI 1.53 to 43.46; 2 studies contributed to the effect estimate). Our analysis of 11 observational studies found systemic adverse reactions occurred in 131/921 (14.2%) participants treated with bee venom VIT and 8/289 (2.8%) treated with wasp venom VIT. AUTHORS' CONCLUSIONS: We found venom immunotherapy using extracted insect venom to be an effective therapy for preventing further allergic reactions to insect stings, which can improve quality of life. The treatment carries a small but significant risk of systemic adverse reaction.
