Article
Obstetrics & Gynecology
Elnaz Fazeli, Samira Piltan, Milad Gholami, Mojdeh Akbari, Zahra Falahati, Fakhrolmolook Yassaee, Hossein Sadeghi, Reza Mirfakhraie
Summary: This study investigated the expression level of CYP24A1 in uterine leiomyoma samples compared to adjacent tissues. Results showed that CYP24A1 gene was ectopically expressed in 18% of uterine leiomyoma tissues, independent of the MED12 mutation profile. This supports the idea that dysregulation of vitamin D signaling and metabolic pathways may be involved in some subtypes of ULMs.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2021)
Article
Pathology
Terhi Ahvenainen, Jaana Kaukomaa, Kati Kampjarvi, Outi Uimari, Anne Ahtikoski, Netta Makinen, Oskari Heikinheimo, Lauri A. Aaltonen, Auli Karhu, Ralf Butzow, Pia Vahteristo
Summary: This study analyzed three antibodies (2SC, AKR1B10, and FH) as potential biomarkers to differentiate hereditary leiomyomatosis and renal cell cancer. The results showed that 2SC and AKR1B10 had high accuracy and sensitivity, making them useful tools for screening and diagnosis.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2022)
Article
Pathology
Pavel Dundr, Maria Gregova, Jan Hojny, Eva Krkavcova, Romana Michalkova, Kristyna Nemejcova, Michaela Bartu, Nikola Hajkova, Jan Laco, Michal Mara, Adela Richtarova, Tomas Zima, Ivana Struzinska
Summary: Cellular leiomyoma (CL) is characterized by high expression of smooth muscle markers and endometrial stromal markers, with IFITM1 demonstrating superior performance in differentiation, and frequent molecular abnormalities involving HMGA2, chromosome 1p deletions, and MED12 mutations.
Article
Biochemistry & Molecular Biology
Alla S. Koltsova, Olga A. Efimova, Olga V. Malysheva, Natalia S. Osinovskaya, Thomas Liehr, Ahmed Al-Rikabi, Natalia Yu. Shved, Iskender Yu. Sultanov, Olga G. Chiryaeva, Maria I. Yarmolinskaya, Nikolai I. Polenov, Vladislava V. Kunitsa, Maka I. Kakhiani, Tatyana G. Tral, Gulrukhsor Kh. Tolibova, Olesya N. Bespalova, Igor Yu. Kogan, Andrey S. Glotov, Vladislav S. Baranov, Anna A. Pendina
Summary: Uterine leiomyomas (ULs) exhibit both inter- and intratumor genetic heterogeneity. Regardless of the MED12 status, a tumor may consist of clones with and without chromosomal abnormalities. Under in vitro conditions, the clonal frequency of cells shifts up or down, possibly due to variations in the ability of cells with different genetic aberrations to survive outside the body.
Article
Biochemistry & Molecular Biology
Tsai-Der Chuang, Jianjun Gao, Derek Quintanilla, Hayden McSwiggin, Drake Boos, Wei Yan, Omid Khorram
Summary: Recent studies have found that somatic mutations in exon 2 of MED12 gene occur at a frequency of up to 80% and play a functional role in leiomyoma development. This study aimed to investigate the expression profile of RNA transcripts in leiomyomas with and without these mutations, as well as in their paired myometrium. Using next-generation RNA sequencing, the researchers found that there were 394 genes differentially and aberrantly expressed only in the mutated tumors. These genes mostly regulated the components of the extracellular matrix. Additionally, although the myometrium did not have MED12 mutations, there were significant differences in the transcriptome landscape compared to non-mutated specimens, with genes related to the response to oxygen-containing compounds being most affected.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Saya Tamura, Takuma Hayashi, Tomoyuki Ichimura, Nobuo Yaegashi, Kaoru Abiko, Ikuo Konishi
Summary: This study investigated the rare occurrence of primary uterine rhabdomyosarcoma during the follow-up of uterine leiomyoma. It was found that rhabdomyosarcoma is more common in children and has a higher response rate to treatment compared to adults. The study also identified potential biomarkers for the diagnosis of uterine rhabdomyosarcoma.
Article
Medicine, General & Internal
Shoko Nishikawa, Takuma Hayashi, Yasuaki Amano, Nobuo Yaegashi, Kaoru Abiko, Ikuo Konishi
Summary: This study investigated the oncological properties of uterine lipoleiomyoma and hemangioma in adults through molecular pathological examination. A case of concurrent uterine hemangioma and lipoleiomyoma was reported, emphasizing the need to consider multiple types of mesenchymal tumors in the differential diagnosis of patients with abnormal vaginal bleeding.
Article
Oncology
Jordi Gonzalez-Molina, Paula Hahn, Raul Maia Falcao, Okan Gultekin, Georgia Kokaraki, Valentina Zanfagnin, Tirzah Braz Petta, Kaisa Lehti, Joseph W. W. Carlson
Summary: This study explored the impact of fibrillar collagens on uterine leiomyosarcoma (uLMS) and found that uLMS tumors have low collagen density and increased expression of collagen-remodeling genes compared to uterine leiomyomas (LM).The overexpression of matrix metalloproteinase-14 (MMP14) in uLMS was found to support uLMS cell proliferation, and uLMS cells were found to be less sensitive to changes in collagen substrate stiffness. Additionally, enhanced basal yes-associated protein 1 (YAP) activity was observed in uLMS cells, which sustains their growth in low-stiffness substrates. These findings suggest that matrix remodeling and YAP may be potential therapeutic targets for uLMS.
MOLECULAR ONCOLOGY
(2023)
Article
Obstetrics & Gynecology
Anne P. Hutchinson, Ping Yin, Ilona Neale, John S. Coon, Stacy A. Kujawa, Shimeng Liu, Serdar E. Bulun
Summary: The tryptophan metabolism-kynurenine pathway plays important roles in leiomyoma tumorigenesis. Leiomyomas expressing mut-MED12 have decreased tryptophan levels, and TDO2 is the key enzyme responsible for this reduction.
REPRODUCTIVE SCIENCES
(2022)
Article
Obstetrics & Gynecology
Tsai-Der Chuang, Derek Quintanilla, Drake Boos, Omid Khorram
Summary: This study investigated the expression profile of SE-lncRNAs and associated mRNAs in leiomyomas and paired myometrium, revealing that differential expression of SE contributes to dysregulation of protein coding genes in leiomyomas. The study also found that race and MED12 mutation can influence the expression of certain SE-lncRNAs.
REPRODUCTIVE SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Asa Kolterud, Niko Valimaki, Heli Kuisma, Joonatan Patomo, Sini T. Ilves, Netta Makinen, Jaana Kaukomaa, Kimmo Palin, Eevi Kaasinen, Auli Karhu, Annukka Pasanen, Ralf Butzow, Oskari Heikinheimo, Helena Kopp Kallner, Lauri A. Aaltonen
Summary: This study found that the treatment response of uterine fibroids is influenced by molecular subclasses, with MED12 mutant fibroids having a higher chance of shrinking after ulipristal acetate treatment compared to HMGA2 driven fibroids. Gene expression and DNA methylation analyses also revealed subclass specific differences in progesterone receptor signaling. These findings highlight the importance of considering genetic subclasses in evaluating uterine fibroid therapies.
HUMAN MOLECULAR GENETICS
(2023)
Article
Acoustics
C. Russo, S. Camilli, F. G. Martire, A. Di Giovanni, L. Lazzeri, M. Malzoni, E. Zupi, C. Exacoustos
Summary: The study aimed to correlate the ultrasound appearance of highly vascularized uterine myomas with histopathological diagnosis, highlighting the importance of combining lesion characteristics and patient age for differential diagnosis of typical myomas, benign variants, and malignant lesions.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Oncology
Tingting Gao, Brian S. Finkelman, Yanli Ban, Yinuo Li, Ping Yin, Serdar E. Bulun, Xinyan Lu, Chunfang Ha, Jian-Jun Wei
Summary: LM-BN and LMS display genomic instability and extensive CNAs throughout the genome, while SMT-FH presents its characteristic 1q43-44 deletions. LMS and LM-BN show similar patterns of CNAs, whereas SMT-FH has minimal CNAs in other genomic regions.
Article
Biochemistry & Molecular Biology
Takuma Hayashi, Kenji Sano, Nobuo Yaegashi, Kaoru Abiko, Ikuo Konishi
Summary: Uterine leiomyoma develops from smooth muscle tissue, while uterine sarcoma can develop from smooth muscle tissue or stroma. Uterine sarcoma is classified into three types: leiomyosarcoma, endometrial stromal sarcoma (ESS), and carcinosarcoma. Although both leiomyosarcoma and ESS are classified as uterine sarcoma, they differ in terms of their sites of occurrence, symptoms, and treatment methods.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Article
Oncology
Koichi Watanabe, Takuma Hayashi, Miyu Katsumata, Kenji Sano, Kaoru Abiko, Ikuo Konishi
Summary: Regular postpartum follow-up is crucial for monitoring the growth of uterine fibroids and detecting signs of malignancy. Biomarkers such as cyclin E and Ki-67 can be useful in diagnosing uterine mesenchymal tumors. Regular monitoring for tumor recurrence and metastases is important for early detection and treatment.
ANTICANCER RESEARCH
(2021)
Article
Endocrinology & Metabolism
Kati Kampjarvi, Nam Hee Kim, Salla Keskitalo, Alison D. Clark, Pernilla von Nandelstadh, Mikko Turunen, Tuomas Heikkinen, Min Ju Park, Netta Makinen, Kati Kivinummi, Susanna Lintula, Kristina Hotakainen, Heli Nevanlinna, Peter Hokland, Tom Bohling, Ralf Butzow, Jan Bohm, Jukka-Pekka Mecklin, Heikki Jarvinen, Mika Kontro, Tapio Visakorpi, Jussi Taipale, Markku Varjosalo, Thomas G. Boyer, Pia Vahteristo
Article
Oncology
Kati Kampjarvi, Netta Makinen, Miika Mehine, Salla Valipakka, Outi Uimari, Esa Pitkanen, Hanna-Riikka Heinonen, Tuomas Heikkinen, Jaana Tolvanen, Anne Ahtikoski, Norma Frizzell, Nanna Sarvilinna, Jari Sjoberg, Ralf Butzow, Lauri A. Aaltonen, Pia Vahteristo
BRITISH JOURNAL OF CANCER
(2016)
Article
Multidisciplinary Sciences
Miika Mehine, Eevi Kaasinen, Hanna-Riikka Heinonen, Netta Makinen, Kati Kampjarvi, Nanna Sarvilinna, Mervi Aavikko, Anna Vaharautio, Annukka Pasanen, Ralf Butzow, Oskari Heikinheimo, Jari Sjoberg, Esa Pitkanen, Pia Vahteristo, Lauri A. Aaltonen
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2016)
Article
Genetics & Heredity
Tuomas Heikkinen, Kati Kaempjaervi, Salla Keskitalo, Pernilla von Nandelstadh, Xiaonan Liu, Ville Rantanen, Esa Pitkaenen, Matias Kinnunen, Heikki Kuusanmaeki, Mika Kontro, Mikko Turunen, Netta Maekinen, Jussi Taipale, Caroline Heckman, Kaisa Lehti, Satu Mustjoki, Markku Varjosalo, Pia Vahteristo
Article
Genetics & Heredity
Ulrika A. Hanninen, Riku Katainen, Tomas Tanskanen, Roosa-Maria Plaketti, Riku Leine, Jiri Hamberg, Ari Ristimaki, Eero Pukkala, Minna Taipale, Jukka-Pekka Mecklin, Linda M. Forsstrom, Esa Pitkanen, Kimmo Palin, Niko Valimaki, Netta Makinen, Lauri A. Aaltonen
Article
Multidisciplinary Sciences
Hanna-Riikka Heinonen, Annukka Pasanen, Oskari Heikinheimo, Tomas Tanskanen, Kimmo Palin, Jaana Tolvanen, Pia Vahteristo, Jari Sjoberg, Esa Pitkanen, Ralf Butzow, Netta Makinen, Lauri A. Aaltonen
SCIENTIFIC REPORTS
(2017)
Article
Oncology
Terhi V. Ahvenainen, Netta M. Makinen, Pernilla von Nandelstadh, Maija E. A. Vahteristo, Annukka M. Pasanen, Ralf C. Butzow, Pia M. Vahteristo
Article
Oncology
Ulrika A. Hanninen, Erkki-Ville Wirta, Riku Katainen, Tomas Tanskanen, Jiri Hamberg, Minna Taipale, Jan Bohm, Laura Renkonen-Sinisalo, Anna Lepisto, Linda M. Forsstrom, Esa Pitkanen, Kimmo Palin, Toni T. Seppala, Netta Makinen, Jukka-Pekka Mecklin, Lauri A. Aaltonen
BRITISH JOURNAL OF CANCER
(2019)
Article
Multidisciplinary Sciences
C. S. Gallagher, N. Makinen, H. R. Harris, N. Rahmioglu, O. Uimari, J. P. Cook, N. Shigesi, T. Ferreira, D. R. Velez-Edwards, T. L. Edwards, S. Mortlock, Z. Ruhioglu, F. Day, C. M. Becker, V. Karhunen, H. Martikainen, M. -R. Jarvelin, R. M. Cantor, P. M. Ridker, K. L. Terry, J. E. Buring, S. D. Gordon, S. E. Medland, G. W. Montgomery, D. R. Nyholt, D. A. Hinds, J. Y. Tung, J. R. B. Perry, P. A. Lind, J. N. Painter, N. G. Martin, A. P. Morris, D. I. Chasman, S. A. Missmer, K. T. Zondervan, C. C. Morton, Michelle Agee, Babak Alipanahi, Adam Auton, Robert K. Bell, Katarzyna Bryc, Sarah L. Elson, Pierre Fontanillas, Nicholas A. Furlotte, Karen E. Huber, Aaron Kleinman, Nadia K. Litterman, Matthew H. McIntyre, Joanna L. Mountain, Elizabeth S. Noblin, Carrie A. M. Northover, Steven J. Pitts, J. Fah Sathirapongsasuti, Olga V. Sazonova, Janie F. Shelton, Suyash Shringarpure, Chao Tian, Vladimir Vacic, Catherine H. Wilson
NATURE COMMUNICATIONS
(2019)
Article
Oncology
Zhouwei Zhang, Netta Makinen, Yosuke Kasai, Grace E. Kim, Begona Diosdado, Eric Nakakura, Matthew Meyerson
GENES CHROMOSOMES & CANCER
(2020)
Article
Multidisciplinary Sciences
Davide G. Berta, Heli Kuisma, Niko Valimaki, Maritta Raisanen, Maija Jantti, Annukka Pasanen, Auli Karhu, Jaana Kaukomaa, Aurora Taira, Tatiana Cajuso, Sanna Nieminen, Rosa-Maria Penttinen, Saija Ahonen, Rainer Lehtonen, Miika Mehine, Pia Vahteristo, Jyrki Jalkanen, Biswajyoti Sahu, Janne Ravantti, Netta Makinen, Kristiina Rajamaki, Kimmo Palin, Jussi Taipale, Oskari Heikinheimo, Ralf Butzow, Eevi Kaasinen, Lauri A. Aaltonen
Summary: One in four women suffer from uterine leiomyomas (ULs) at some point in premenopausal life, which can cause excessive bleeding, pain, and infertility. Recent research identified mutations in genes encoding members of the SRCAP histone-loading complex as potential drivers of UL, indicating a potential mechanism of tumorigenesis involving epigenetic instability caused by deficient H2A.Z deposition.
Article
Multidisciplinary Sciences
Heli Kuisma, Simona Bramante, Kristiina Rajamaki, Lauri J. Sipila, Eevi Kaasinen, Jaana Kaukomaa, Kimmo Palin, Netta Makinen, Jari Sjoberg, Nanna Sarvilinna, Jussi Taipale, Liisa Kauppi, Manuela Tumiati, Antti Hassinen, Janne Pitkaniemi, Jyrki Jalkanen, Sanna Heikkinen, Annukka Pasanen, Oskari Heikinheimo, Ralf Butzow, Niko Valimaki, Lauri A. Aaltonen
Summary: This study reveals an association between parity and chromosomal damage in uterine leiomyomas, suggesting that mechanical forces in a constrained cellular environment may contribute to tumor development without evidence of progression to malignancy.
NATURE COMMUNICATIONS
(2021)
Article
Pathology
Terhi Ahvenainen, Jaana Kaukomaa, Kati Kampjarvi, Outi Uimari, Anne Ahtikoski, Netta Makinen, Oskari Heikinheimo, Lauri A. Aaltonen, Auli Karhu, Ralf Butzow, Pia Vahteristo
Summary: This study analyzed three antibodies (2SC, AKR1B10, and FH) as potential biomarkers to differentiate hereditary leiomyomatosis and renal cell cancer. The results showed that 2SC and AKR1B10 had high accuracy and sensitivity, making them useful tools for screening and diagnosis.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2022)
Article
Oncology
Hanna-Riikka Heinonen, Miika Mehine, Netta Makinen, Annukka Pasanen, Esa Pitkanen, Auli Karhu, Nanna S. Sarvilinna, Jari Sjoberg, Oskari Heikinheimo, Ralf Butzow, Lauri A. Aaltonen, Eevi Kaasinen
BRITISH JOURNAL OF CANCER
(2017)