Articles from BioMed Central


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  • Hippeläinen, Eero; Mäkelä, Teemu; Kaasalainen, Touko; Kaleva, Erna (Springer International Publishing, 2017)
    Abstract Background Developments in single photon emission tomography instrumentation and reconstruction methods present a potential for decreasing acquisition times. One of such recent options for myocardial perfusion imaging (MPI) is IQ-SPECT. This study was motivated by the inconsistency in the reported ejection fraction (EF) and left ventricular (LV) volume results between IQ-SPECT and more conventional low-energy high-resolution (LEHR) collimation protocols. IQ-SPECT and LEHR quantitative results were compared while the equivalent number of iterations (EI) was varied. The end-diastolic (EDV) and end-systolic volumes (ESV) and the derived EF values were investigated. A dynamic heart phantom was used to produce repeatable ESVs, EDVs and EFs. Phantom performance was verified by comparing the set EF values to those measured from a gated multi-slice X-ray computed tomography (CT) scan (EFTrue). The phantom with an EF setting of 45, 55, 65 and 70% was imaged with both IQ-SPECT and LEHR protocols. The data were reconstructed with different EI, and two commonly used clinical myocardium delineation software were used to evaluate the LV volumes. Results The CT verification showed that the phantom EF settings were repeatable and accurate with the EFTrue being within 1% point from the manufacture’s nominal value. Depending on EI both MPI protocols can be made to produce correct EF estimates, but IQ-SPECT protocol produced on average 41 and 42% smaller EDV and ESV when compared to the phantom’s volumes, while LEHR protocol underestimated volumes by 24 and 21%, respectively. The volume results were largely similar between the delineation methods used. Conclusions The reconstruction parameters can greatly affect the volume estimates obtained from perfusion studies. IQ-SPECT produces systematically smaller LV volumes than the conventional LEHR MPI protocol. The volume estimates are also software dependent.
  • Laranjo-González, Minerva; Devleesschauwer, Brecht; Trevisan, Chiara; Allepuz, Alberto; Sotiraki, Smaragda; Abraham, Annette; Afonso, Mariana B; Blocher, Joachim; Cardoso, Luís; Correia da Costa, José M; Dorny, Pierre; Gabriël, Sarah; Gomes, Jacinto; Gómez-Morales, María Á; Jokelainen, Pikka; Kaminski, Miriam; Krt, Brane; Magnussen, Pascal; Robertson, Lucy J; Schmidt, Veronika; Schmutzhard, Erich; Smit, G. S A; Šoba, Barbara; Stensvold, Christen R; Starič, Jože; Troell, Karin; Rataj, Aleksandra V; Vieira-Pinto, Madalena; Vilhena, Manuela; Wardrop, Nicola A; Winkler, Andrea S; Dermauw, Veronique (BioMed Central, 2017)
    Abstract Background Taenia solium and Taenia saginata are zoonotic parasites of public health importance. Data on their occurrence in humans and animals in western Europe are incomplete and fragmented. In this study, we aimed to update the current knowledge on the epidemiology of these parasites in this region. Methods We conducted a systematic review of scientific and grey literature published from 1990 to 2015 on the epidemiology of T. saginata and T. solium in humans and animals. Additionally, data about disease occurrence were actively sought by contacting local experts in the different countries. Results Taeniosis cases were found in twelve out of eighteen countries in western Europe. No cases were identified in Iceland, Ireland, Luxembourg, Norway, Sweden and Switzerland. For Denmark, Netherlands, Portugal, Slovenia, Spain and the UK, annual taeniosis cases were reported and the number of detected cases per year ranged between 1 and 114. Detected prevalences ranged from 0.05 to 0.27%, whereas estimated prevalences ranged from 0.02 to 0.67%. Most taeniosis cases were reported as Taenia spp. or T. saginata, although T. solium was reported in Denmark, France, Italy, Spain, Slovenia, Portugal and the UK. Human cysticercosis cases were reported in all western European countries except for Iceland, with the highest number originating from Portugal and Spain. Most human cysticercosis cases were suspected to have acquired the infection outside western Europe. Cases of T. solium in pigs were found in Austria and Portugal, but only the two cases from Portugal were confirmed with molecular methods. Germany, Spain and Slovenia reported porcine cysticercosis, but made no Taenia species distinction. Bovine cysticercosis was detected in all countries except for Iceland, with a prevalence based on meat inspection of 0.0002–7.82%. Conclusions Detection and reporting of taeniosis in western Europe should be improved. The existence of T. solium tapeworm carriers, of suspected autochthonous cases of human cysticercosis and the lack of confirmation of porcine cysticercosis cases deserve further attention. Suspected cases of T. solium in pigs should be confirmed by molecular methods. Both taeniosis and human cysticercosis should be notifiable and surveillance in animals should be improved.
  • Rapo-Pylkkö, Susanna; Haanpää, Maija; Liira, Helena (BioMed Central, 2017)
    Abstract Background Chronic, mostly musculoskeletal pain is common among older adults. Little is known about the prognosis of chronic pain and the neuropathic pain qualities in older adults. We studied a cohort of community-dwelling older adults, clinically assessed their pain states, classified their type of pain (nociceptive, neuropathic or combined) and followed them up for a year. Methods At baseline, a geriatrician clinically examined all study patients and classified their type of pain in collaboration with a pain specialist. Pain, quality of life and mental health were measured by questionnaires (BPI, GDS-15, BAI and SF-36) and reassessed after 1 year. Results Despite chronic pain, all patients from the baseline cohort continued to live independently at 1 year. A total of 92 of 106 (87%) patients returned the follow-up questionnaire. Nociceptive pain on its own was present in 48 patients, whereas 44 patients also had neuropathic pain. Most patients (96%) had several pain states at baseline, and 13 patients reported a new pain state at follow-up. On average, there were no significant changes in the pain intensity, pain interference, mood or quality of life in either group between baseline and follow-up. Changes in pain were observed at the individual level, and both intensity and interference of pain at the follow-up had a negative correlation with the baseline value. Conclusions On average, chronic pain was persistent in our patients, but they were able to live independently despite their pain. At the individual level, both relief and exacerbation of pain were observed, supporting the notion that pain is not inevitable and unremitting among older adults.
  • Kuuluvainen, Timo; Aakala, Tuomas; Várkonyi, Gergely (Springer Singapore, 2017)
    Abstract Background After their death, Scots pine trees can remain standing for decades and sometimes up to 200 years, forming long-lasting and ecologically important structures in boreal forest landscapes. Standing dead pines decay very slowly and with time develop into ‘kelo’ trees, which are characterized by hard wood with silvery-colored appearance. These kelo trees represent an ecologically important, long lasting and visually striking element of the structure of natural pine-dominated forests in boreal Fennoscandia that is nowadays virtually absent from managed forest landscapes. Methods We examined and mapped the amount, structural features, site characteristics and spatial distribution of dead standing pine trees over a ten hectare area in an unmanaged boreal forest landscape in the Kalevala National Park in Russian Viena Karelia. Results The mean basal area of dead standing pine trees in the forested part of the landscape was 1.7 m2∙ha−1 and the estimated volume 12.7 m3∙ha−1. From the total number of standing dead pine trees 65% were kelo trees, with a basal area of 1.1 m2∙ha−1 and volume of 8.0 m3∙ha−1, the remainder consisting of standing dead pines along the continuum between a recently dead tree and a kelo tree. Overall, standing dead pines were distributed throughout the study area, but there was a tendency towards spatial clustering up to <100 m distances. Standing dead pines were most commonly situated on flat ground or in the mid slope in the local topography. In addition, standing dead pines contributed to substrate diversity also by commonly having charred wood and broken tops. Based on the presence of dead pine snags in different stage of transition from a recently dead pine to a kelo with silvery surface, it seems evident that the process of kelo recruitment was continuously in action in the studied landscape. Conclusions Kelo trees are an omnipresent feature in natural pine-dominated forest landscapes with important contribution to forest structural and substrate diversity. Because of their longevity and extremely slow turnover dynamics and importance for biodiversity, protection of vulnerable kelo tree populations, and ensuring their continuous recruitment, should be of high priority in forest restoration and sustainable management.
  • Cox, Melissa L; Evans, Jacquelyn M; Davis, Alexander G; Guo, Ling T; Levy, Jennifer R; Starr-Moss, Alison N; Salmela, Elina; Hytönen, Marjo K; Lohi, Hannes; Campbell, Kevin P; Clark, Leigh A; Shelton, G. D (BioMed Central, 2017)
    Abstract Background Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the responsible mutations are unknown. The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood. Methods Following clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining, whole exome sequencing was performed on five Boston terriers: one affected dog and its three family members and one unrelated affected dog. Results Within sarcoglycan-δ (SGCD), a two base pair deletion segregating with LGMD in the family was discovered, and a deletion encompassing exons 7 and 8 was found in the unrelated dog. Both mutations are predicted to cause an absence of SGCD protein, confirmed by immunohistochemistry. The mutations are private to each family. Conclusions Here, we describe the first cases of canine LGMD characterized at the molecular level with the classification of LGMD2F.
  • Kontturi, Miia; Kujala, Minna; Junni, Reijo; Malinen, Erja; Seuna, Eija; Pelkonen, Sinikka; Soveri, Timo; Simojoki, Heli (BioMed Central, 2017)
    Abstract Background Severe outbreaks of interdigital phlegmon (IP) associated with a high morbidity and major economic losses have occurred in Finland in the past decade. A survey was performed to indicate the current occurrence of infectious hoof diseases and to identify herd level risk factors predisposing to an outbreak of IP. Results Responses to a questionnaire revealed that an outbreak of IP defined as morbidity ≥5% within the 1st month of the outbreak, had occurred in 18.0% of the respondent study farms. Risk factors for an outbreak included animal transport between herds, i.e. either animal purchase or contract heifer rearing, enlargement or renovation of the barn, and if the fields of the farm had been organically cultivated. Having any kind of mechanical ventilation in comparison to natural ventilation seemed to lower the risk of IP. Additionally, the farms that had experienced an outbreak of IP often had other infectious hoof diseases. However, it was unclear which disease appeared first. Conclusions More attention is needed before and during enlargement or renovation of the barn and substantial planning is crucial for every part of the enlargement process in dairy farms.
  • Virtanen, Eunice; Nurmi, Tapio; Söder, Per-Östen; Airila-Månsson, Stella; Söder, Birgitta; Meurman, Jukka H (BioMed Central, 2017)
    Abstract Background Periodontal disease associates with systemic diseases but corresponding links regarding apical periodontitis (AP) are not so clear. Hence our aim was to study association between AP and the prevalence of systemic diseases in a study population from Sweden. Methods The subjects were 150 patients from a randomly selected epidemiological sample of 1676 individuals. 120 accepted to participate and their basic and clinical examination data were available for these secondary analyses where dental radiographs were used to record signs for endodontic treatments and AP. Periapical Index and modified Total Dental Index scores were calculated from the x-rays to classify the severity of AP and dental infection burden, respectively. Demographic and hospital record data were collected from the Swedish National Statistics Center. T-test, chi-square and univariate analysis of covariance (ANCOVA) and regressions analyses were used for statistics. Results Of the 120 patients 41% had AP and 61% had received endodontic treatments of which 52% were radiographically unsatisfactory. AP patients were older and half of them were smokers. AP and periodontitis often appeared in the same patient (32.5%). From all hospital diagnoses, cardiovascular diseases (CVD) were most common, showing 20.4% prevalence in AP patients. Regression analyses, controlled for age, gender, income, smoking and periodontitis, showed AP to associate with CVD with odds ratio 3.83 (95% confidence interval 1.18–12.40; p = 0.025). Conclusions The results confirmed our hypothesis by showing that AP statistically associated with cardiovascular diseases. The finding that subjects with AP also often had periodontitis indicates an increased oral inflammatory burden.
  • Heikman, Pertti K; Muhonen, Leea H; Ojanperä, Ilkka A (BioMed Central, 2017)
    Abstract Background Polydrug abuse is a known problem among opioid-dependent patients receiving opioid maintenance treatment (OMT). However, improved laboratory diagnostics is required to reveal polydrug abuse in its current scope. Furthermore, there are few studies focusing on the relationship between polydrug abuse and adequacy of the dose of OMT medicine. This study aimed to evaluate the polydrug abuse among opioid-dependent patients receiving OMT with inadequate (Group IA) and adequate (Group A) doses of OMT medicine as experienced by the patients. Craving for opioids and withdrawal symptoms were evaluated as indicators of the adequacy rating. Methods This is a retrospective register-based study of 60 OMT patients on either methadone or sublingual buprenorphine/naloxone medication, whose polydrug abuse was studied from urine samples by means of a comprehensive high-resolution mass spectrometry method. Results Inadequate doses of the OMT medicines were associated with higher subjective withdrawal scores and craving for opioids. Six groups of abused substances (benzodiazepines, amphetamines, opioids, cannabis, new psychoactive substances, and non-prescribed psychotropic medicines) were found among OMT patients. Group IA patients showed significantly more abuse of benzodiazepines and amphetamines than the Group A patients. All the new psychoactive substances and most of the non-prescribed psychotropic medicines were detected from the Group IA patients. There was no difference in the doses of the OMT medicine between Groups IA and A patients. Conclusions Polydrug abuse, detected by definitive laboratory methods, was widespread and more common among Group IA than Group A patients, emphasizing the requirement for individual OMT medicine dose adjustment.
  • Saari, Sina; Andjelković, Ana; Garcia, Geovana S; Jacobs, Howard T; Oliveira, Marcos T (BioMed Central, 2017)
    Abstract Background Mitochondrial alternative respiratory-chain enzymes are phylogenetically widespread, and buffer stresses affecting oxidative phosphorylation in species that possess them. However, they have been lost in the evolutionary lineages leading to vertebrates and arthropods, raising the question as to what survival or reproductive disadvantages they confer. Recent interest in using them in therapy lends a biomedical dimension to this question. Methods Here, we examined the impact of the expression of Ciona intestinalis alternative oxidase, AOX, on the reproductive success of Drosophila melanogaster males. Sperm-competition assays were performed between flies carrying three copies of a ubiquitously expressed AOX construct, driven by the α-tubulin promoter, and wild-type males of the same genetic background. Results In sperm-competition assays, AOX conferred a substantial disadvantage, associated with decreased production of mature sperm. Sperm differentiation appeared to proceed until the last stages, but was spatially deranged, with spermatozoids retained in the testis instead of being released to the seminal vesicle. High AOX expression was detected in the outermost cell-layer of the testis sheath, which we hypothesize may disrupt a signal required for sperm maturation. Conclusions AOX expression in Drosophila thus has effects that are deleterious to male reproductive function. Our results imply that AOX therapy must be developed with caution.
  • Tian, Xiaoqing; Pan, Huachen; Köngäs, Petrina; Horppila, Jukka (Springer Berlin Heidelberg, 2017)
    Abstract A 3D-model was developed to study the effects of hypolimnetic aeration on the temperature profile of a thermally stratified Lake Vesijärvi (southern Finland). Aeration was conducted by pumping epilimnetic water through the thermocline to the hypolimnion without breaking the thermal stratification. The model used time transient equation based on Navier–Stokes equation. The model was fitted to the vertical temperature distribution and environmental parameters (wind, air temperature, and solar radiation) before the onset of aeration, and the model was used to predict the vertical temperature distribution 3 and 15 days after the onset of aeration (1 August and 22 August). The difference between the modelled and observed temperature was on average 0.6 °C. The average percentage model error was 4.0% on 1 August and 3.7% on 22 August. In the epilimnion, model accuracy depended on the difference between the observed temperature and boundary conditions. In the hypolimnion, the model residual decreased with increasing depth. On 1 August, the model predicted a homogenous temperature profile in the hypolimnion, while the observed temperature decreased moderately from the thermocline to the bottom. This was because the effect of sediment was not included in the model. On 22 August, the modelled and observed temperatures near the bottom were identical demonstrating that the heat transfer by the aerator masked the effect of sediment and that exclusion of sediment heat from the model does not cause considerable error unless very short-term effects of aeration are studied. In all, the model successfully described the effects of the aerator on the lake’s temperature profile. The results confirmed the validity of the applied computational fluid dynamic in artificial aeration; based on the simulated results, the effect of aeration can be predicted.
  • Stenholm, Sari; Solovieva, Svetlana; Viikari-Juntura, Eira; Aalto, Ville; Kivimäki, Mika; Vahtera, Jussi (BioMed Central, 2017)
    Abstract Background Retirement is a major life transition affecting health behaviors. The aim of this study was to examine within-individual changes in body mass index (BMI) during transition from full-time work to statutory retirement by sex and physical work characteristics. Methods A multiwave cohort study repeated every 4 years and data linkage to records from retirement registers. Participants were 5426 Finnish public-sector employees who retired on a statutory basis in 2000–2011 and who reported their body weight one to three times prior to (w−3, w−2, w−1), and one to three times after (w+1, w+2, w+3) retirement. Results During the 4-year retirement transition (w+1, vs. w−1) men showed decline in BMI, which was most marked among men with sedentary work (−0.18 kg/m2, 95% CI −.30 to −0.05). In contrast, BMI increased during retirement transition in women and was most marked among women with diverse (0.14 kg/m2, 95% CI 0.08 to 0.20) or physically heavy work (0.31 kg/m2, 95% CI 0.16 to 0.45). Physical activity during leisure time or commuting to work, alcohol consumption or smoking did not explain the observed changes during retirement transition. Conclusions In this study statutory retirement was associated with small changes in BMI. Weight loss was most visible in men retiring from sedentary jobs and weight gain in women retiring from diverse and physically heavy jobs.
  • Macqueen, Daniel J; Primmer, Craig R; Houston, Ross D; Nowak, Barbara F; Bernatchez, Louis; Bergseth, Steinar; Davidson, William S; Gallardo-Escárate, Cristian; Goldammer, Tom; Guiguen, Yann; Iturra, Patricia; Kijas, James W; Koop, Ben F; Lien, Sigbjørn; Maass, Alejandro; Martin, Samuel A; McGinnity, Philip; Montecino, Martin; Naish, Kerry A; Nichols, Krista M; Ólafsson, Kristinn; Omholt, Stig W; Palti, Yniv; Plastow, Graham S; Rexroad, Caird E; Rise, Matthew L; Ritchie, Rachael J; Sandve, Simen R; Schulte, Patricia M; Tello, Alfredo; Vidal, Rodrigo; Vik, Jon O; Wargelius, Anna; Yáñez, José M (BioMed Central, 2017)
    Abstract We describe an emerging initiative - the ‘Functional Annotation of All Salmonid Genomes’ (FAASG), which will leverage the extensive trait diversity that has evolved since a whole genome duplication event in the salmonid ancestor, to develop an integrative understanding of the functional genomic basis of phenotypic variation. The outcomes of FAASG will have diverse applications, ranging from improved understanding of genome evolution, to improving the efficiency and sustainability of aquaculture production, supporting the future of fundamental and applied research in an iconic fish lineage of major societal importance.
  • Stenius-Ayoade, Agnes; Haaramo, Peija; Erkkilä, Elisabet; Marola, Niko; Nousiainen, Kirsi; Wahlbeck, Kristian; Eriksson, Johan G (BioMed Central, 2017)
    Abstract Background Homelessness is associated with increased morbidity, mortality and health care use. The aim of this study was to examine the role of mental disorders in relation to the use of 1) daytime primary health care services and 2) after hours primary health care emergency room (PHER) services among homeless shelter users in the Helsinki Metropolitan Area, Finland. Methods The study cohort consists of all 158 homeless persons using the four shelters operating in the study area during two selected nights. The health records were analyzed over a period of 3 years prior to the sample nights and data on morbidity and primary health care visits were gathered. We used negative binomial regression to estimate the association between mental disorders and daytime visits to primary health care and after hours visits to PHERs. Results During the 3 years the 158 homeless persons in the cohort made 1410 visits to a physician in primary health care. The cohort exhibited high rates of mental disorders, including substance use disorders (SUDs); i.e. 141 persons (89%) had a mental disorder. We found dual diagnosis, defined as SUD concurring with other mental disorder, to be strongly associated with daytime primary health care utilization (IRR 11.0, 95% CI 5.9–20.6) when compared with those without any mental disorder diagnosis. The association was somewhat weaker for those with only SUDs (IRR 4.9, 95% CI 2.5–9.9) or with only other mental disorders (IRR 5.0, 95% CI 2.4–10.8). When focusing upon the after hours visits to PHERs we observed that both dual diagnosis (IRR 14.1, 95% CI 6.3–31.2) and SUDs (11.5, 95% CI 5.7–23.3) were strongly associated with utilization of PHERs compared to those without any mental disorder. In spite of a high numbers of visits, we found undertreatment of chronic conditions such as hypertension and diabetes. Conclusions Dual diagnosis is particularly strongly associated with primary health care daytime visits among homeless persons staying in shelters, while after hours visits to primary health care level emergency rooms are strongly associated with both dual diagnosis and SUDs. Active treatment for SUDs could reduce the amount of emergency visits made by homeless shelter users.
  • Grönman, Maria; Tarkia, Miikka; Kiviniemi, Tuomas; Halonen, Paavo; Kuivanen, Antti; Savunen, Timo; Tolvanen, Tuula; Teuho, Jarmo; Käkelä, Meeri; Metsälä, Olli; Pietilä, Mikko; Saukko, Pekka; Ylä-Herttuala, Seppo; Knuuti, Juhani; Roivainen, Anne; Saraste, Antti (BioMed Central, 2017)
    Abstract Background Radiolabeled RGD peptides detect αvβ3 integrin expression associated with angiogenesis and extracellular matrix remodeling after myocardial infarction. We studied whether cardiac positron emission tomography (PET) with [68Ga]NODAGA-RGD detects increased αvβ3 integrin expression after induction of flow-limiting coronary stenosis in pigs, and whether αvβ3 integrin is expressed in viable ischemic or injured myocardium. Methods We studied 8 Finnish landrace pigs 13 ± 4 days after percutaneous implantation of a bottleneck stent in the proximal left anterior descending coronary artery. Antithrombotic therapy was used to prevent stent occlusion. Myocardial uptake of [68Ga]NODAGA-RGD (290 ± 31 MBq) was evaluated by a 62 min dynamic PET scan. The ischemic area was defined as the regional perfusion abnormality during adenosine-induced stress by [15O]water PET. Guided by triphenyltetrazolium chloride staining, tissue samples from viable and injured myocardial areas were obtained for autoradiography and histology. Results Stent implantation resulted in a partly reversible myocardial perfusion abnormality. Compared with remote myocardium, [68Ga]NODAGA-RGD PET showed increased tracer uptake in the ischemic area (ischemic-to-remote ratio 1.3 ± 0.20, p = 0.0034). Tissue samples from the injured areas, but not from the viable ischemic areas, showed higher [68Ga]NODAGA-RGD uptake than the remote non-ischemic myocardium. Uptake of [68Ga]NODAGA-RGD correlated with immunohistochemical detection of αvβ3 integrin that was expressed in the injured myocardial areas. Conclusions Cardiac [68Ga]NODAGA-RGD PET demonstrates increased myocardial αvβ3 integrin expression after induction of flow-limiting coronary stenosis in pigs. Localization of [68Ga]NODAGA-RGD uptake indicates that it reflects αvβ3 integrin expression associated with repair of recent myocardial injury.
  • Mäkinen, Netta; Kämpjärvi, Kati; Frizzell, Norma; Bützow, Ralf; Vahteristo, Pia (BioMed Central, 2017)
    Abstract Uterine smooth muscle tumors range from benign leiomyomas to malignant leiomyosarcomas. Based on numerous molecular studies, leiomyomas and leiomyosarcomas mostly lack shared mutations and the majority of tumors are believed to develop through distinct mechanisms. To further characterize the molecular variability among uterine smooth muscle tumors, and simultaneously insinuate their potential malignant progression, we examined the frequency of known genetic leiomyoma driver alterations (MED12 mutations, HMGA2 overexpression, biallelic FH inactivation) in 65 conventional leiomyomas, 94 histopathological leiomyoma variants (18 leiomyomas with bizarre nuclei, 22 cellular, 29 highly cellular, and 25 mitotically active leiomyomas), and 51 leiomyosarcomas. Of the 210 tumors analyzed, 107 had mutations in one of the three driver genes. No tumor had more than one mutation confirming that all alterations are mutually exclusive. MED12 mutations were the most common alterations in conventional and mitotically active leiomyomas and leiomyosarcomas, while leiomyomas with bizarre nuclei were most often FH deficient and cellular tumors showed frequent HMGA2 overexpression. Highly cellular leiomyomas displayed the least amount of alterations leaving the majority of tumors with no known driver aberration. Our results indicate that based on the molecular background, histopathological leiomyoma subtypes do not only differ from conventional leiomyomas, but also from each other. The presence of leiomyoma driver alterations in nearly one third of leiomyosarcomas suggests that some tumors arise through leiomyoma precursor lesion or that these mutations provide growth advantage also to highly aggressive cancers. It is clinically relevant to understand the molecular background of various smooth muscle tumor subtypes, as it may lead to improved diagnosis and personalized treatments in the future.