Browsing by Subject "OF-THE-LITERATURE"

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  • Bentham, James; Di Cesare, Mariachiara; Stevens, Gretchen A.; Zhou, Bin; Bixby, Honor; Cowan, Melanie; Fortunato, Lea; Bennett, James E.; Danaei, Goodarz; Hajifathalian, Kaveh; Lu, Yuan; Riley, Leanne M.; Laxmaiah, Avula; Kontis, Vasilis; Paciorek, Christopher J.; Riboli, Elio; Ezzati, Majid; Abdeen, Ziad A.; Hamid, Zargar Abdul; Abu-Rmeileh, Niveen M.; Acosta-Cazares, Benjamin; Adams, Robert; Aekplakorn, Wichai; Aguilar-Salinas, Carlos A.; Agyemang, Charles; Ahmadvand, Alireza; Ahrens, Wolfgang; Al-Hazzaa, Hazzaa M.; Al-Othman, Amani Rashed; Al Raddadi, Rajaa; Ali, Mohamed M.; Alkerwi, Ala'a; Alvarez-Pedrerol, Mar; Aly, Eman; Amouyel, Philippe; Amuzu, Antoinette; Andersen, Lars Bo; Anderssen, Sigmund A.; Anjana, Ranjit Mohan; Aounallah-Skhiri, Hajer; Ariansen, Inger; Aris, Tahir; Arlappa, Nimmathota; Arveiler, Dominique; Assah, Felix K.; Avdicova, Maria; Azizi, Fereidoun; Babu, Bontha V.; Peltonen, Markku; Salonen, Jukka; NCD Risk Factor Collaboration NCD- (2016)
    Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.522.7) and 16.5 cm (13.319.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
  • Castren, Sari; Basnet, Syaron; Pankakoski, Maiju; Ronkainen, Jenni-Emilia; Helakorpi, Satu; Uutela, Antti; Alho, Hannu; Lahti, Tuuli (2013)
  • Kantomaa, Marko T.; Stamatakis, Emmanuel; Kankaanpaa, Anna; Kajantie, Eero; Taanila, Anja; Tammelin, Tuija (2016)
    The Northern Finland Birth Cohort 1986 (N = 8,061) was used to investigated the joint associations of physical activity and sedentary behavior with academic achievement. Logistic regression analysis was used to evaluate how classes formed by latent class analysis (LCA) according to overall physical activity, sports club membership, viewing TV, using a computer, reading books and magazines, other sedentary activities, and sleep were associated with grade-point average. When adjusted for gender, self-rated health, and mother's education, physically active adolescents and generally active adolescents were about twice as likely to have high grade-point average compared with sedentary TV viewers.
  • Kaartinen, I.; Sunela, K.; Alanko, J.; Hukkinen, K.; Karjalainen-Lindsberg, M. -L.; Svarvar, C. (2017)
    Breast lymphomas comprise a rare group of malignant breast tumors. Among these, a new entity has emerged as a potentially under diagnosed disease. Breast implant-associated anaplastic large cell lymphoma (BI-ALCL) most often manifests as a late periprosthetic effusion between 1 and 10 years after the implantation of silicone or saline-filled breast prostheses. BI-ALCL is an anaplastic lymphoma kinase-negative T-cell lymphoma that has a distinctively different clinical course than other breast lymphomas or ALCLs. Diagnosis is based on aspiration of the effusion around the implant and CD30 positivity of the sample. Every periprosthetic effusion after breast augmentation or reconstruction using implants should be considered as potential BI-ALCL until proven otherwise. The majority of cases at diagnosis are in the in situ stage, i.e., confined to the lumen around the prosthesis. Most patients have an excellent prognosis when complete removal of the capsule and prosthesis with negative margins is achieved surgically. Some patients, however, develop infiltrative disease with a potentially life-threatening clinical course. Treatment planning regarding the extent of surgery and role of adjuvant therapy, especially in advanced cases, requires further investigation. (c) 2017 Elsevier Ltd, BASO-The Association for Cancer Surgery, and the European Society of Surgical Oncology. All rights reserved.
  • Uusi-Rasi, Kirsti; Karkkainen, Merja U. M.; Lamberg-Allardt, Christel J. E. (2013)
  • Halonen, Pia; Jakobsson, Maija; Heikinheimo, Oskari; Riska, Annika; Gissler, Mika; Pukkala, Eero (2018)
    The association between Lichen planus (LP) and cancer has been under debate for decades. We studied the connection via population-based Finnish register data. All women with the diagnosis of LP (n=13,100) were identified from the Finnish Hospital Discharge Registry from 1969-2012. These patients were linked with subsequent cancer diagnoses from the Finnish Cancer Registry until 2014. Standardized incidence ratios (SIRs) were counted for different cancers by dividing the observed numbers of cancers by expected numbers, which were based on national cancer incidence rates. In total, 1,520 women with LP were diagnosed with cancer (SIR 1.15, 95% confidence interval [CI] 1.09-1.20). LP was associated with an increased risk of cancer of lip (SIR 5.17, 95% CI 3.06-8.16), cancer of tongue (SIR 12.4, 95% CI 9.45-16.0), cancer of oral cavity (SIR 7.97, 95% CI 6.79-9.24), cancer of esophagus (SIR 1.95, 95% CI 1.17-3.04), cancer of larynx (SIR of 3.47, 95% CI 1.13-8.10) and cancer of vulva (SIR 1.99, 95% CI 1.18-3.13). The risk of cancer was not increased in other locations where LP manifests (pharynx and skin). Patients with diagnosed LP have an increased risk of developing cancer of lip, tongue, oral cavity, esophagus, larynx and vulva. These data are important when considering treatment and follow-up of patients with LP diagnosis. What's new?Lichen planus (LP) is a chronic disease of the skin and mucous membranes that is likely autoimmune in origin. Owing to its inflammatory nature, it is also suspected of causing certain cancers. Whether LP possesses malignant potential, however, remains uncertain. Here, in a cohort of 13,100 women diagnosed with LP between 1969 and 2012 in Finland, some 1,520 were eventually diagnosed with cancer. Malignancies with significant increases in incidence in LP patients included those of the lip, tongue, oral cavity, esophagus, larynx and vulva. The findings suggest that LP patients could benefit from multidisciplinary approaches to care.
  • Wibroe, Morten; Cappelen, Johan; Castor, Charlotte; Clausen, Niels; Grillner, Pernilla; Gudrunardottir, Thora; Gupta, Ramneek; Gustavsson, Bengt; Heyman, Mats; Holm, Stefan; Karppinen, Atte; Klausen, Camilla; Lönnqvist, Tuula; Mathiasen, Rene; Nilsson, Pelle; Nysom, Karsten; Persson, Karin; Rask, Olof; Schmiegelow, Kjeld; Sehested, Astrid; Thomassen, Harald; Tonning-Olsson, Ingrid; Zetterqvist, Barbara; Juhler, Marianne (2017)
    Background: Central nervous system tumours constitute 25% of all childhood cancers; more than half are located in the posterior fossa and surgery is usually part of therapy. One of the most disabling late effects of posterior fossa tumour surgery is the cerebellar mutism syndrome (CMS) which has been reported in up to 39% of the patients but the exact incidence is uncertain since milder cases may be unrecognized. Recovery is usually incomplete. Reported risk factors are tumour type, midline location and brainstem involvement, but the exact aetiology, surgical and other risk factors, the clinical course and strategies for prevention and treatment are yet to be determined. Methods: This observational, prospective, multicentre study will include 500 children with posterior fossa tumours. It opened late 2014 with participation from 20 Nordic and Baltic centres. From 2016, five British centres and four Dutch centres will join with a total annual accrual of 130 patients. Three other major European centres are invited to join from 2016/17. Follow-up will run for 12 months after inclusion of the last patient. All patients are treated according to local practice. Clinical data are collected through standardized online registration at pre-determined time points pre- and postoperatively. Neurological status and speech functions are examined pre- operatively and postoperatively at 1-4 weeks, 2 and 12 months. Pre- and postoperative speech samples are recorded and analysed. Imaging will be reviewed centrally. Pathology is classified according to the 2007 WHO system. Germline DNA will be collected from all patients for associations between CMS characteristics and host genome variants including pathway profiles. Discussion: Through prospective and detailed collection of information on 1) differences in incidence and clinical course of CMS for different patient and tumour characteristics, 2) standardized surgical data and their association with CMS, 3) diversities and results of other therapeutic interventions, and 4) the role of host genome variants, we aim to achieve a better understanding of risk factors for and the clinical course of CMS - with the ultimate goal of defining strategies for prevention and treatment of this severely disabling condition.
  • Ovaska, Mikko (2015)
  • Thesleff, Tuomo; Lehtimaki, Kai; Niskakangas, Tero; Huovinen, Sanna; Mannerström, Bettina; Miettinen, Susanna; Seppänen-Kaijansinkko, Riitta; Ohman, Juha (2017)
    Several alternative techniques exist to reconstruct skull defects. The complication rate of the cranioplasty procedure is high and the search for optimal materials and techniques continues. To report long-term results of patients who have received a cranioplasty using autologous adipose-derived stem cells (ASCs) seeded on beta-tricalcium phosphate (betaTCP) granules. Between 10/2008 and 3/2010, five cranioplasties were performed (four females, one male; average age 62.0 years) using ASCs, betaTCP granules and titanium or resorbable meshes. The average defect size was 8.1 x 6.7 cm(2). Patients were followed both clinically and radiologically. The initial results were promising, with no serious complications. Nevertheless, in the long-term follow-up, three of the five patients were re-operated due to graft related problems. Two patients showed marked resorption of the graft, which led to revision surgery. One patient developed a late infection (7.3 years post-operative) that required revision surgery and removal of the graft. One patient had a successfully ossified graft, but was re-operated due to recurrence of the meningioma 2.2 years post-operatively. One patient had an uneventful clinical follow-up, and the cosmetic result is satisfactory, even though skull x-rays show hypodensity in the borders of the graft. Albeit no serious adverse events occurred, the 6-year follow-up results of the five cases are unsatisfactory. The clinical results are not superior to results achieved by conventional cranial repair methods. The use of stem cells in combination with betaTCP granules and supporting meshes in cranial defect reconstruction need to be studied further before continuing with clinical trials.
  • Wouters, Michel W.; Michielin, Olivier; Bastiaannet, Esther; Beishon, Marc; Catalano, Orlando; del Marmol, Veronique; Delgado-Bolton, Roberto; Dendale, Remi; Trill, Maria Die; Ferrari, Andrea; Forsea, Ana-Maria; Kreckel, Hannelore; Lövey, Jozsef; Luyten, Gre; Massi, Daniela; Mohr, Peter; Oberst, Simon; Pereira, Philippe; Paiva Prata, Joao Paulo; Rutkowski, Piotr; Saarto, Tiina; Sheth, Sapna; Spurrier-Bernard, Gilly; Vuoristo, Meri-Sisko; Costad, Alberto; Naredi, Peter (2018)
    Background ECCO essential requirements for quality cancer care (ERQCC) are explanations and descriptions of challenges, organisation and actions that are necessary to give high-quality care to patients who have a specific type of cancer. They are written by European experts representing all disciplines involved in cancer care. ERQCC papers give oncology teams, patients, policymakers and managers an overview of the elements needed in any healthcare system to provide high quality of care throughout the patient journey. References are made to clinical guidelines and other resources where appropriate, and the focus is on care in Europe. Melanoma: essential requirements for quality care: Melanoma, the most-deadly skin cancer, is rising in incidence among fair-skinned people in Europe. Increasing complexity of care for advanced disease in clinical areas such as staging and new therapies requires attention to a number of challenges and inequalities in a diverse patient group. Care for advanced melanoma must only be carried out in, or in collaboration with, specialist melanoma centres which have both a core multidisciplinary team and an extended team of allied professionals, and which are subject to quality and audit procedures. Access to such units is far from universal in all European countries. It is essential that, to meet European aspirations for high-quality comprehensive cancer control, healthcare organisations implement the requirements in this paper, paying particular attention to multidisciplinarity and patient-centred pathways from diagnosis to treatment and follow-up, to improve survival and quality of life for patients. Conclusion: Taken together, the information presented in this paper provides a comprehensive description of the essential requirements for establishing a high-quality service for melanoma. The ERQCC expert group is aware that it is not possible to propose a 'one size fits all' system for all countries, but urges that access to multidisciplinary teams and specialised treatments is guaranteed to all patients with melanoma.
  • Sullivan, Kathleen E.; Bassiri, Hamid; Bousfiha, Ahmed A.; Costa-Carvalho, Beatriz T.; Freeman, Alexandra F.; Hagin, David; Lau, Yu L.; Lionakis, Michail S.; Moreira, Ileana; Pinto, Jorge A.; de Moraes-Pinto, M. Isabel; Rawat, Amit; Reda, Shereen M.; Lugo Reyes, Saul Oswaldo; Seppanen, Mikko; Tang, Mimi L. K. (2017)
    In today's global economy and affordable vacation travel, it is increasingly important that visitors to another country and their physician be familiar with emerging infections, infections unique to a specific geographic region, and risks related to the process of travel. This is never more important than for patients with primary immunodeficiency disorders (PIDD). A recent review addressing common causes of fever in travelers provides important information for the general population Thwaites and Day (N Engl J Med 376:548-560, 2017). This review covers critical infectious and management concerns specifically related to travel for patients with PIDD. This review will discuss the context of the changing landscape of infections, highlight specific infections of concern, and profile distinct infection phenotypes in patients who are immune compromised. The organization of this review will address the environment driving emerging infections and several concerns unique to patients with PIDD. The first section addresses general considerations, the second section profiles specific infections organized according to mechanism of transmission, and the third section focuses on unique phenotypes and unique susceptibilities in patients with PIDDs. This review does not address most parasitic diseases. Reference tables provide easily accessible information on a broader range of infections than is described in the text.
  • Stacchiotti, S.; Miah, A. B.; Frezza, A. M.; Messiou, C.; Morosi, C.; Caraceni, A.; Antonescu, C. R.; Bajpai, J.; Baldini, E.; Bauer, S.; Biagini, R.; Bielack, S.; Blay, J. Y.; Bonvalot, S.; Boukovinas, I.; Bovee, J. V. M. G.; Boye, K.; Brodowicz, T.; Callegaro, D.; De Alava, E.; Deoras-Sutliff, M.; Dufresne, A.; Eriksson, M.; Errani, C.; Fedenko, A.; Ferraresi, V.; Ferrari, A.; Fletcher, C. D. M.; Del Muro, X. Garcia; Gelderblom, H.; Gladdy, R. A.; Gouin, F.; Grignani, G.; Gutkovich, J.; Haas, R.; Hindi, N.; Hohenberger, P.; Huang, P.; Joensuu, H.; Jones, R. L.; Jungels, C.; Kasper, B.; Kawai, A.; Le Cesne, A.; Le Grange, F.; Leithner, A.; Leonard, H.; Pousa, A. Lopez; Broto, J. Martin; Merimsky, O.; Merriam, P.; Miceli, R.; Mir, O.; Molinari, M.; Montemurro, M.; Oldani, G.; Palmerini, E.; Pantaleo, M. A.; Patel, S.; Piperno-Neumann, S.; Raut, C. P.; Ravi, Arumugam Veera; Razak, A. R. A.; Reichardt, P.; Rubin, B. P.; Rutkowski, P.; Safwat, A. A.; Sangalli, C.; Sapisochin, G.; Sbaraglia, M.; Scheipl, S.; Schoffski, P.; Strauss, D.; Strauss, S. J.; Hall, K. Sundby; Tap, W. D.; Trama, A.; Tweddle, A.; van der Graaf, W. T. A.; Van de Sande, M. A. J.; Van Houdt, W.; van Oortmerssen, G.; Wagner, A. J.; Wartenberg, M.; Wood, J.; Zaffaroni, N.; Zimmermann, C.; Casali, P. G.; Dei Tos, A. P.; Gronchi, A. (2021)
    Epithelioid hemangioendothelioma (EHE) is an ultra-rare, translocated, vascular sarcoma. EHE clinical behavior is variable, ranging from that of a low-grade malignancy to that of a high-grade sarcoma and it is marked by a high propensity for systemic involvement. No active systemic agents are currently approved specifically for EHE, which is typically refractory to the antitumor drugs used in sarcomas. The degree of uncertainty in selecting the most appropriate therapy for EHE patients and the lack of guidelines on the clinical management of the disease make the adoption of new treatments inconsistent across the world, resulting in suboptimal outcomes for many EHE patients. To address the shortcoming, a global consensus meeting was organized in December 2020 under the umbrella of the European Society for Medical Oncology (ESMO) involving >80 experts from several disciplines from Europe, North America and Asia, together with a patient representative from the EHE Group, a global, disease-specific patient advocacy group, and Sarcoma Patient EuroNet (SPAEN). The meeting was aimed at defining, by consensus, evidence-based best practices for the optimal approach to primary and metastatic EHE. The consensus achieved during that meeting is the subject of the present publication.
  • Vollm, Birgit A.; Clarke, Martin; Tort Herrando, Vicenc; Seppanen, Allan O.; Gosek, Pawel; Heitzman, Janusz; Bulten, Erik (2018)
    Forensic psychiatry in Europe is a specialty primarily concerned with individuals who have either offended or present a risk of doing so, and who also suffer from a psychiatric condition. These mentally disordered offenders (MDOs) are often cared for in secure psychiatric environments orprisons. In this guidance paper we first present an overview of the field of forensic psychiatry from a European perspective. We then present a review of the literature summarising the evidence on the assessment and treatment of MDOs under the following headings: The forensic psychiatrist as expert witness, risk, treatment settings for mentally disordered offenders, and what works for MDOs. We undertook a rapid review of the literature with search terms related to: forensic psychiatry, review articles, randomised controlled trials and best practice. We searched the Medline, Embase, PsycINFO, and Cochrane library databases from 2000 onwards for adult groups only. We scrutinised publications for additional relevant literature, and searched the websites of relevant professional organisations for policies, statements or guidance of interest. We present the findings of the scientific literature as well as recommendations for best practice drawing additionally from the guidance documents identified. We found that the evidence base for forensic-psychiatric practice is weak though there is some evidence to suggest that psychiatric care produces better outcomes than criminal justice detention only. Practitioners need to follow general psychiatric guidance as well as that for offenders, adapted for the complex needs of this patient group, paying particular attention to long-term detention and ethical issues. (C) 2017 Elsevier Masson SAS. All rights reserved.
  • Laukkanen, Erika; Vehkalahti, Miira M.; Kotiranta, Anja K. (2019)
    Objectives We assessed the impact of type of tooth on the outcome of root canal treatment (RCT) according to factors potentially weakening the prognosis such as preoperative apical periodontitis (AP) and treatment modality (primary or secondary RCT). Materials and methods We scrutinized patient documents including pre- and postoperative radiographs of 640 permanent teeth receiving non-surgical RCT at Helsinki University Clinic in 2008–2011. Of teeth, 44% were molars, 32% premolars, and 24% anterior teeth. Patients’ mean age was 51.5 years; 51% were male. AP was present in 60.5% of teeth preoperatively. We used the periapical index (PAI) to assess the radiographs and defined radiographically “healthy” and “healing” cases as successful. Statistical evaluation included chi-squared tests, Fisher’s exact tests, t tests, and logistic regression modeling. Results The overall success rate (SR) was 84.1%; 88.3% for primary and 75.5% for secondary RCT (p < 0.001). The SRs for anterior teeth, premolars and molars were 85.6%, 88.8%, and 79.7%, respectively. Teeth with and without AP had SRs of 77.3% and 94.5%, respectively (p < 0.001). The RCTs were more likely to succeed in anterior teeth and premolars than in molars (OR 1.7; 95% CI 1.1–2.7) and in females than in males (OR 1.9; 95% CI 1.2–3.1). Conclusions Apart from existing AP and retreatment scenario, also, the type of tooth and gender had a significant influence on the outcome of RCT in this study. Clinical relevance The prognosis of RCT varies by type of tooth; special attention should be given to RCT of molar teeth.
  • Choque-Velasquez, Joham; Colasanti, Roberto; Resendiz-Nieves, Julio; Jahromi, Behnam Rezai; Tynninen, Olli; Collan, Juhani; Niemelä, Mika; Hernesniemi, Juha (2018)
    BACKGROUND: Papillary tumor of the pineal region (PTPR) is a rare grade II-III pineal lesion with peculiar histological and immunohistochemical features. These tumors mostly occur in adults, only rarely in children, with 19 cases reported up to now. CASE DESCRIPTION: We present a 3-year-old boy who underwent reoperation for a recurrent PTPR (grade II). Gross total resection of the lesion through an occipital interhemispheric approach with the patient in a sitting position was followed by adjuvant radiotherapy and chemotherapy. Histological examination revealed tumor progression (grade III) and an MIB-1 proliferation index >25%. The patient continues to do well with no evidence of recurrence more than 3 years following surgery. A comprehensive literature review regarding the PTPR, including the current management in children, is reported. CONCLUSIONS: PTPRs are extremely rare in children, and immunohistochemistry is needed to differentiate them from other pineal tumors. These tumors show a high rate of recurrence, and a multidisciplinary management approach (microsurgical resection followed by radiotherapy and/or chemotherapy) can help achieve a favorable outcome.
  • Ruohoalho, Johanna; Aro, Katri; Makitie, Antti A.; Atula, Timo; Haapaniemi, Aaro; Keski-Santti, Harri; Kylanpaa, Leena; Takala, Annika; Back, Leif J. (2017)
    Percutaneous endoscopic gastrostomy (PEG) is often the treatment of choice in head and neck cancer (HNC) patients needing long-term nutritional support. Prospective studies on PEG tube placement in an otorhinolaryngologist service are lacking. At our hospital, otolaryngologist-head and neck (ORL-HN) surgeons-have performed PEG insertions for HNC patients since 2008. We prospectively analyzed 127 consecutive HNC patients who received their PEG tubes at the Department of Otorhinolaryngology-head and neck surgery, and evaluated the outcome of PEG tube insertions performed by ORL-HN surgeons. To compare time delays before and after, PEG placement service was transferred from gastrointestinal surgeons to ORL-HN surgeons, and we retrospectively analyzed a separate group of 110 HNC patients who had earlier received PEG tubes at the Department of Gastrointestinal Surgery. ORL-HN surgeons' success rate in PEG insertion was 97.6%, leading to a final prospective study group of 124 patients. Major complications occurred in four (3.2%): two buried bumper syndromes, one subcutaneous hemorrhage leading to an abscess in the abdominal wall, and one metastasis at the PEG site. The most common minor complication was peristomal granulomatous tissue affecting 23 (18.5%) patients. After the change in practice, median time delay before PEG insertion decreased from 13 to 10 days (P <0.005). The proportion of early PEG placements within 0-3 days increased from 3.6 to 14.6% (P <0.005). PEG tube insertion seems to be a safe procedure in the hands of an ORL-HN surgeon. Independence from gastrointestinal surgeons' services reduced the time delay and improved the availability of urgent PEG insertions.
  • Danielson, Heidi; Lassila, Riitta; Ylinen, Pekka; Yrjönen, Timo (2017)
    AIM To collect data from joint replacement in inhibitor patients, evaluate haemostatic and patient outcomes, and analyse the costs. METHODS We report our 21-year, single-centre cumulative experience of 15 joint arthroplasties in six inhibitor patients. RESULTS Two low responder inhibitor patients were in the early days treated with FVIII, whereas bypassing agents were used in the rest of the high responder patients. The primary haemostatic outcome was good in 8/15, fair in 4/15 and poor in 3/15 operations. The overall patient outcome, including joint health and patient satisfaction, was good in 10/15, fair 4/15 and poor in 1/15. No deep infections were observed. Cost analysis was most beneficial in low responders and in two immune-tolerized, high responder patients. In all cases, factor replacement comprised the main treatment costs. CONCLUSION Our experience supports the initial use of bypassing agents as well as preoperative immune-tolerance induction when possible. Despite the challenges of haemostasis and severe joint disease, total joint arthroplasty can reach a good outcome, even in inhibitor patients. The risk for deep infection might be smaller than previously reported. Individual planning, intense multidisciplinary teamwork and execution of operations should be centralised in a professional unit.
  • Heinonen, Kati; Räikkönen, Katri; Pesonen, Anu-Katriina; Andersson, Sture; Kajantie, Eero; Eriksson, Johan G.; Vartia, Timo; Wolke, Dieter; Lano, Aulikki (2011)
  • Soritsa, Deniss; Teder, Hindrek; Roosipuu, Retlav; Tamm, Hannes; Laisk-Podar, Triin; Soplepmann, Pille; Altraja, Alan; Salumets, Andres; Peters, Maire (2018)
    Background: Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Case presentation: We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. Conclusions: We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A > G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases.