Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome

PTEN is a tumour suppressor gene involved in regulating cell division. Pathogenic germline variants in PTEN predispose to benign and malignant growths of numerous organs, including of the breast. In the following report, we describe the first documented case of a fibroadenoma developing in ectopic breast tissue of the vulva in a patient with a germline pathogenic variant in PTEN. This highlights the risk of hyperplasia developing in any breast tissue, including rare ectopic sites, particularly in patients with underlying germline variants in cancer susceptibility genes

What Matters to Us:Impact of Telemedicine During the Pandemic in the Care of Patients With Sarcoma Across Scotland

In Scotland, approximately 350 sarcoma cases are diagnosed per year and treated in one of the five specialist centers. Many patients are required to travel long distances to access specialist care. The COVID-19 pandemic brought a number of rapid changes into the care for patients with cancer, with increasing utilization of telemedicine. We aimed to evaluate how the utilization of telemedicine affects professionals and patients across Scotland and care delivery, at the Beatson West of Scotland Cancer Centre Sarcoma Unit. Between June 8 and August 25, 2020, we invited patients and professional sarcoma multidisciplinary team members to participate in separate online anonymous survey questionnaires, to assess their attitudes toward telemedicine. Data were extracted, and descriptive statistics were performed. Patient satisfaction (n = 64) with telemedicine was high (mean = 9.4/10) and comparable with traditional face-to-face appointments (mean = 9.5/10). Patients were receptive to the use of telemedicine in certain situations, with patients strongly opposed to being told bad news via telemedicine (88%). Providers recommended the use of telemedicine in certain patient populations and reported largely equivalent workloads when compared with traditional consultations. Providers reported that telemedicine should be integrated into regular practice (66%), with patients echoing this indicating a preference for a majority of telemedicine appointments (57%). Telemedicine in sarcoma care is favorable from both clinician and patient perspectives. Utilization of telemedicine for patients with rare cancers such as sarcomas is an innovative approach to the delivery of care, especially considering the time and financial pressures on patients who often live a distance away from specialist centers. Patients and providers are keen to move toward a more flexible, mixed system of care

Systemic therapies in advanced epithelioid haemangioendothelioma: A retrospective international case series from the World Sarcoma Network and a review of literature

[Background] This observational, retrospective effort across Europe, US, Australia, and Asia aimed to assess the activity of systemic therapies in EHE, an ultra-rare sarcoma, marked by WWTR1-CAMTA1 or YAP1-TFE3 fusions.[Methods] Twenty sarcoma reference centres contributed data. Patients with advanced EHE diagnosed from 2000 onwards and treated with systemic therapies, were selected. Local pathologic review and molecular confirmation were required. Radiological response was retrospectively assessed by local investigators according to RECIST. Progression free survival (PFS) and overall survival (OS) were estimated by Kaplan-Meier method.[Results] Overall, 73 patients were included; 21 had more than one treatment. Thirty-three patients received anthracyclines regimens, achieving 1 (3%) partial response (PR), 25 (76%) stable disease (SD), 7 (21%) progressive disease (PD). The median (m-) PFS and m-OS were 5.5 and 14.3 months respectively. Eleven patients received paclitaxel, achieving 1 (9%) PR, 6 (55%) SD, 4 (36%) PD. The m-PFS and m-OS were 2.9 and 18.6 months, respectively. Twelve patients received pazopanib, achieving 3 (25%) SD, 9 (75%) PD. The m-PFS and m-OS were.2.9 and 8.5 months, respectively. Fifteen patients received INF-α 2b, achieving 1 (7%) PR, 11 (73%) SD, 3 (20%) PD. The m-PFS and m-OS were 8.9 months and 64.3, respectively. Among 27 patients treated with other regimens, 1 PR (ifosfamide) and 9 SD (5 gemcitabine +docetaxel, 2 oral cyclophosphamide, 2 others) were reported.[Conclusion] Systemic therapies available for advanced sarcomas have limited activity in EHE. The identification of new active compounds, especially for rapidly progressive cases, is acutely needed.Peer reviewe

Introduction of chronical wounds healing with Lucilia sericata larvae in Slovenia

Izhodišča Ker so kronične rane danes pogosto okužene z bakterijskimi sevi, odpornimi na antibiotike, je njihovo zdravljenje težavno. Namen raziskovalnega projekta je bil uvesti v Slovenijo novo metodo zdravljenja kroničnih ran z uporabo ličink muh Lucilia sericata. Metode Za zdravljenje kroničnih ran smo uporabili sterilne larve L. sericata, pridobljene v kontinuirani kulturi na Oddelku za biologijo Biotehniske fakultete UL. Na ta način smo zdravili 32 ran pri 30 bolnikih. Ličinke smo na rani pustili delovati dva do tri dnič nato smo jih odstranili in po potrebi ponovno namestili. Pred namestitvijo in po njej smo jemali mikrobiološke brise tkiva vrani in iz njih osamili ter identificirali bakterijske vrste. Med biokirurskim zdravljenjem smo spremljali potek zdravljenja, bolnikovo počutje, morebitne bolečine, pokretnost, samostojnost in psiholoski odziv ob terapiji. Rezultati Z biokirurskim zdravljenjem smo uspeli zaceliti in očistiti 24 ran od 32 (75%). V primeru kombinirane arterijsko-venske razjede smo uspeli popolnoma zaceliti eno rano in očistiti 8 ran, v primeru venske razjede na nogi in sestih diabetičnih razjed so se vse rane očistile. V primerih preležanin in pooperativnih kroničnih ran smo z biokirurgijo vse ranev celoti očistili. 16 bolnikov je med nosenjem ličink občutilo neprijeten občutek, pri dveh so se pojavile bolečine, ki so se po dodatku analgetikov pomirile. Med zdravljenjem si je pri hoji z berglami pomagalo 17 (57%) bolnikov. Ugotovili smo, da je 17 bolnikov (57%) čutilo strah in depresijo ter nelagoden občutek. Zaključki Metoda zdravljenja z ličinkami muhe L. sericata je bila uspešno uvedena v Slovenijo. Zaradi enostavnosti in uspešnosti bi jo bilo potrebno kot način zdravljenja uvesti tudi v vsakdanjo slovensko klinično prakso. Z biokirurgijo se kronične rane hitreje celijo, preprečimo nadaljnja vnetja in propadanje tkiva ter bolniku omogočimo normalno vključevanje v vsakdanje življenje.Background Due to infection of chronic wounds with antibiotic resistant bacterial strains, their healing can be very difficult. The main purpose of the presented research study was the introduction of a new method for chronic wounds healing, using Lucilia sericata fly larvae into Slovenia. Methods For chronic wound healing sterile larvae of L. sericata fly were prepared from a continuous fly culture, maintained at the Department of Biology, Biotechnical Faculty, University of Ljubljana. In this way 32 wounds of 30 patients were treated. Larvae were applied on the wounds for two to three days. Than they were washed off and replaced, if necessary. Microbiological smears were collected before and after the application of the larvae on the wounds. Microorganisms were then isolated and identified. During larval therapy healing improvement, patientćs general state, potential presence of pain, mobility, patientćs independence and psychological reaction to the therapy were monitored. Results Using biosurgical therapy 24 (75%) out of 32 wounds were cleaned and healed. In the case of combined arterio-venous leg ulcers onewound was completely healed and eight of them were cleaned of necrosis and infection. In the case of a venous leg ulcer, six diabetic ulcers, eight casesof chronic postoperative wounds and pressure ulcers, wounds were completely cleaned after the treatment. 16 patients reported unpleasant feeling during larval treatment and two patients felt pain which diminished after the treatment with analgesics. 17 (57%) patients had to use crutches during biosurgical treatment and the same number of patients felt uncomfortable, frightened and depressed during the application of larvae

Approach to screening for Familial Adenomatous Polyposis (FAP) in a cohort of 226 patients with Desmoid-type Fibromatosis (DF): experience of a specialist center in the UK.

INTRODUCTION Desmoid-type fibromatosis (DF) are locally infiltrative, non-metastasizing tumours associated with significant morbidity and mortality if located intra-abdominally, retroperitoneally or in head and neck localisation. They are mostly sporadic, due to somatic CTNNB1 mutations. Alternatively, they can be associated with germline pathogenic variants in APC causing Familial Adenomatous Polyposis (FAP). Germline APC variants and somatic CTNNB1 mutations are mutually exclusive. AIMS AND METHODS We conducted a retrospective descriptive analysis of patients with DF seen at the Royal Marsden NHS Foundation Trust Sarcoma Unit in London. We aimed to describe the methods of screening for FAP in patients with DF from a specialist unit. Patients diagnosed between 1992 and 2020 were selected from the prospectively maintained Sarcoma Unit database. RESULTS 226 patients were identified and 67% (n = 152) were female. Median age at diagnosis was 37.5 (range 2-81) years. Tumour localisation was limbs/pelvis in 30.9% (N = 70), intra-abdominal 16.8% (N = 38), abdominal wall 23.5% (N = 53), thorax 18.6% (N = 42), head and neck 3.1% (N = 7) and vertebral/paravertebral 7.1% (N = 16). Colonoscopy was requested in 65 patients (28.8% of all cases) and was completed in forty-six (20.4%). Molecular testing of CTNNB1 testing was requested in 35 cases (15.5%). APC germline test was requested in 12 cases. Four patients in our cohort had an FAP-associated DF. CONCLUSIONS CTNNB1 ± APC testing and colonoscopy are useful tools for the screening of patients with DF. CTNNB1 molecular testing should be performed in all cases of newly diagnosed DF. Negative CTNNB1 results, alongside clinical assessment, should prompt APC testing and/or colonoscopy