346 Fetal Cardiac Rhabdomyoma: a Case Report

Total Page:16

File Type:pdf, Size:1020Kb

346 Fetal Cardiac Rhabdomyoma: a Case Report A CASE REPORT Bali Medical Journal (Bali Med J) 2016, Volume 5, Number 3: 543-546 P-ISSN.2089-1180, E-ISSN.2302-2914 Fetal cardiac rhabdomyoma: a case report A Case Report Tjokorda Gde Agung Suwardewa,1* I Ketut Surya Negara,1 AAN Jaya Kusuma,1 AAP Wiradnyana,1 Ryan Mulyana Surya,1 I Ketut Tunas2 CrossMark Doi: http://dx.doi.org/10.15562/bmj.v5i3.346 Published by DiscoverSys ABSTRACT Volume No.: 5 Background: Fetal cardiac rhabdomyoma is a rare condition. tomography scan, to rule out anything related to tuberous sclerosis. Case: We report a case with cardiac mass discovered in utero by The prognosis depends on the size, site, number of tumors, and co- prenatal ultrasonography at 33 weeks of gestational age. An echogenic existing congenital abnormalities. Management highly depends on Issue: 3 round-oval shape mass at the interventricular septum protrudes to left the presence of outflow tract obstruction of the heart. However, some ventricle was observed. cases may regress after birth. Results: After birth, the baby was followed up for 7 months with echocardiography, physical examination, and computerized First page No.: 543 Keywords: rhabdomyoma, fetal heart, tuberous sclerosis. Cite This Article: Suwardewa, T., Surya Negara, I., Jaya Kusuma, A., Wiradnyana, A., Surya, R., Tunas, I. 2016. Fetal cardiac rhabdomyoma: a case P-ISSN.2089-1180 report. Bali Medical Journal 5(3): 543-546. DOI:10.15562/bmj.v5i3.346 1Department of Obstetrics and INTRODUCTION rhabdomyoma, which found incidentally during a E-ISSN.2302-2914 Gynecology, Udayana University / routine antenatal visit. Sanglah Hospital Denpasar, Bali- The presence of a primary congenital tumor of Indonesia. heart is a rare occurrence. Its incidence is 1-2/10000 2 Departement of Public Health, and 90% of these tumors are benign out and Dhyana Pura University, Bali- 1 CASE REPORT Indonesia. rhabdomyoma is the most common. Fetal heart rhabdomyoma is a benign tumor closely related to A 30-year-old woman on her third pregnancy with tuberous sclerosis. Even though it is rare, however, two offspring came to the obstetrics-gynecology rhabdomyoma is the most common tumor found outpatient clinic in Sanglah General Hospital on among other heart tumors (50-78%).1,2 20th of October 2004 to have her routine prenatal Rhabdomyoma is often found in neonates care. She has had two caesarean sections for her and toddlers but rarely diagnosed before birth.3,4 previous pregnancies. The last menstrual period was Usually rhabdomyoma is diagnosed when compli- on 26thof February 2004. On the ultrasonography cations such as heart valve obstruction, present at examination, a single live fetus was found, 33 weeks the first year of life. and 6 days’ gestational age, the estimated due date Prenatal detection can be performed in the was on 2nd of December 2004. In the fetal heart, we second trimester of pregnancy.5 Until now the found a round-oval shape mass protruding into the etiology still remains unknown. The pathogenesis left ventricle, and the distal part of the tumor was is unclear. It is stated that embryonal myoblast attached to the interventricular septum. The tumor proliferation, which forms a single or multiple moved freely following the heartbeat. The size of solid mass which can reside anywhere within the the tumor was 17 mm × 9 mm, with uniform echo- myocardium of the atrium or ventricle protrude genic internal structure (figure 1). The mass did into the heart cavity. The differential diagno- not fill the entire heart ventricle figure( 2) and did ses are teratoma, myxoma, hemangioma, and not obstruct the fetal heart outflow tract. figure 3( ). mesothelioma.1,2 On routine prenatal care, the fetus did not suffer The prognosis depends on the size, site, number growth restriction. It was then decided to perform th *Correspondence to: Tjokorda Gde of tumors, and co-existing congenital abnormali- elective cesarean section on 24 of October 2004. Agung Suwardewa, Department of ties. Management highly depends on the presence A vigorous baby was born weighing 3200 grams, Obstetrics and Gynecology, Maternal of outflow tract obstruction of the heart. However, and no major anatomical anomalies were found. Fetal Medicine Division, Medical some cases may regress after birth. The most During physical examination of the baby on 25th Faculty of Udayana University / Sanglah Hospital Denpasar, important point is that there should be an evalu- of October, hypopigmented macules were found on Bali-Indonesia ation on tuberous sclerosis in the patients or their the medial part of left arm, right thigh, and back [email protected] families.1,2 We reported one case of fetal cardiac with varying size between 4-8 mm (figure 4). Open access: www.balimedicaljournal.org and ojs.unud.ac.id/index.php/bmj 543 A CASE REPORT Figure 1 Transversal view of the fetal thorax. The intracardiac tumor is seen with round- Figure 4 Hypopigmented macule (vitiligo) at the oval shape, hyperechoic, at the inter- medial part of the left arm ventricular septum and protrudes to the left ventricle, and size of the tumor was 17 mm × 9 mm Figure 2 The tumor is seen filling a small part of the left ventricle Figure 5 Multiple calcifications in the left ventri- cle of the brain (white dots) Hospital, the heart valves were found to be normal; a mass was found in the left ventricle which moves freely (during systolic and diastolic); VSD, ASD, or PDA were not found. There was no proof of tuberous sclerosis upon examination of the patient’s parents. On 6th of April 2005, the baby had tonic-clonic seizures for 5 minutes, no fever was detected. Head CT-Scan found multiple calcifications in left lateral ventricles of the brain and it supports the diagnosis of tuberous sclerosis (figure 5). Figure 3 The figure shows aorta coming out of DISCUSSION the left ventricle. The tumor is seen located in the left ventricle and not Primary solid tumor in the heart is a rare occur- blocking the aortic valve rence; however, rhabdomyoma is the most commonly found heart tumor in intrauterine life On echocardiography (26thof November 2004) (58%), among other tumors such as teratoma (19%), by a Pediatric Cardiologist in Sanglah General myxoma, hemangioma, and mesothelioma.1 Other 544 Published by DiscoverSys | Bali Med J 2016; 5 (3): 543-546 | doi: 10.15562/bmj.v5i3.346 A CASE REPORT researchers reported that the incidences of rhab- flow which then causes heart failure and hydrops. domyoma are 60%-86%;6,7 1.17%;8 36%-42%;2,9 and Cardiac dysrhythmias are often found due to 60%.10 pressure on the conduction system.2 The presence The etiology is unknown. Rhabdomyomas of cardiac dysrhythmias and nonimmune fetal tumor, which is known as hamartoma, is a benign hydrops indicates a poor prognosis.1 The causes of smooth muscle tumor of the heart which contains death in fetal cardiac rhabdomyoma are ventric- immature myocytes.1 Rhabdomyoma comes from ular blood flow obstruction, cardiac dysrhyth- the embryonal myoblast in which an abnormal mias intrauterine myocard infarction, and loss of tissue proliferation happens and produces encap- myocardial function due to the pressure of the large sulated single or multiple solid mass, with varying mass.13 Various studies showed that rhabdomyoma sizes.2 is a slow growing intrauterine tumor with little or This tumor could grow anywhere in the no growth after birth. This tumor tends to regress cardiac muscle, and the most common site is spontaneously after birth.1,2,10 in the ventricle, rather than at heart valves, Management of fetal cardiac rhabdomyoma and usually protrudes inside the heart cavity. depends on the severity of the complications Macroscopically, it is seen as a yellow solid tumor which arise. It is very important to do a series of and round-oval shape. Specific microscopic find- ultrasound examinations to evaluate and identify ing is spider cell, which is a large and clear cell signs or symptoms of congestive heart failure and with glycogen contain cytoplasm that spreads to dysrhythmias. Delivery should be done in tertiary the plasma membrane.2 health center where a pediatric cardiologist is Cardiac rhabdomyomas are also known as available. Conservative management is provided myocardial hamartomas. There is a strong correla- for asymptomatic patients and surgery is prepared tion between cardiac rhabdomyoma and tuberous for patient with hemodynamic instability.2 Special sclerosis, where the incidence rate of tuberous attention should be given to the central nervous sclerosis is 50-86% in patients with cardiac rhab- system, to find brain ventricle dilatation, and domyoma.2,10,11 Tuberous sclerosis is inherited in an kidneys dysplasia.2,10 Ruling out tuberous sclerosis autosomal dominant pattern with varying expres- is often very challenging because brain manifesta- sions and high penetration. The gene related to tions are not sufficiently monitored with ultrasound tuberous sclerosis is found on chromosome number only.14 Detailed family history especially mental 9. The clinical manifestations are skin lesions (depig- retardation and epilepsy should be explored, and mentation, sebacea adenoma, shagreen patches), tests should be performed on both parents to see cerebral abnormalities (calcifications and periven- the existence of clinical sign of tuberous sclerosis.2,15 tricular nodules, seizures, and cerebral atrophy), Postnatal management includes serial ultra- and phacoma of the retina.2 Dermatologic lesions, sound for monitoring signs of congestive heart uniform hypomelanotic macules, usually present at failure or cardiac dysrhythmias. If asymptomatic, birth. Diagnosis is based on skin biopsy or Wood it is advisable to treat conservatively. However, if Light examination. No correlation between cardiac a cardiac outflow obstruction, persistent arrhyth- rhabdomyoma with other genetical abnormalities, mias, heart failure, or cardiogenic emboli appear, a except with tuberous sclerosis.2 resection surgery should be considered.1 The differential diagnoses are: rhabdomyoma, teratoma, fibroma, myxoma, and hemangioma.
Recommended publications
  • Pleomorphic Adenoma of Buccal Mucosa: a Rare Case Report
    IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) e-ISSN: 2279-0853, p-ISSN: 2279-0861.Volume 16, Issue 3 Ver. XI (March. 2017), PP 75-78 www.iosrjournals.org Pleomorphic Adenoma of Buccal Mucosa: A Rare Case Report Ashwini Jangamashetti, BDS1, Siddesh Shenoy, MDS2, R.Krishna Kumar MDS3, Amol Jeur, MS4 1Post Graduate Student, Department Of Oral Medicine And Radiology, MARDC,Pune 2Reader, Department of oral Medicine and radiology, M.A Rangoonwala Dental College and Research Center, Pune (MARDC), 3Professor and HOD, Department of oral Medicine and Radiology, MARDC, Pune 4Assistant Professor in Department of General surgery, Krishna Medical College of KIMS Deemed University , Abstract: Pleomorphic adenoma is a benign tumor of the salivary gland that consists of a combination of epithelial and mesenchymal elements1. About 90% of these tumors occur in the parotid gland and 10% in the minor salivary glands2. Among intra oral pleomorphic adenomas buccal vestibule is among the rarest sites3. A case of pleomorphic adenoma of minor salivary glands in the buccal vestibule in a 36 year-old female is discussed4. It includes review of literature, clinical features, histopathology, radiological findings and treatment of the tumor, with emphasis on diagnosis4. The mass was removed by wide local excision with adequate margins5. Keywords: minor salivary gland, pleomorphic adenoma, tumor, parotid gland, vestibule, mesenchymal elements. I. Introduction Pleomorphic adenoma (PA) is defined by World Health Organization in 1972 as a circumscribed tumor characterized by its pleomorphic or mixed appearance clearly recognizable epithelial tissue being intermingled with tissue of mucoid, myxoid and chondroid appearance2. Among all salivary gland tumors, pleomorphic adenoma is the most frequently encountered lesion accounting for approximately 60% of all salivary gland neoplasms3.
    [Show full text]
  • Soft Tissue Cytopathology: a Practical Approach Liron Pantanowitz, MD
    4/1/2020 Soft Tissue Cytopathology: A Practical Approach Liron Pantanowitz, MD Department of Pathology University of Pittsburgh Medical Center [email protected] What does the clinician want to know? • Is the lesion of mesenchymal origin or not? • Is it begin or malignant? • If it is malignant: – Is it a small round cell tumor & if so what type? – Is this soft tissue neoplasm of low or high‐grade? Practical diagnostic categories used in soft tissue cytopathology 1 4/1/2020 Practical approach to interpret FNA of soft tissue lesions involves: 1. Predominant cell type present 2. Background pattern recognition Cell Type Stroma • Lipomatous • Myxoid • Spindle cells • Other • Giant cells • Round cells • Epithelioid • Pleomorphic Lipomatous Spindle cell Small round cell Fibrolipoma Leiomyosarcoma Ewing sarcoma Myxoid Epithelioid Pleomorphic Myxoid sarcoma Clear cell sarcoma Pleomorphic sarcoma 2 4/1/2020 CASE #1 • 45yr Man • Thigh mass (fatty) • CNB with TP (DQ stain) DQ Mag 20x ALT –Floret cells 3 4/1/2020 Adipocytic Lesions • Lipoma ‐ most common soft tissue neoplasm • Liposarcoma ‐ most common adult soft tissue sarcoma • Benign features: – Large, univacuolated adipocytes of uniform size – Small, bland nuclei without atypia • Malignant features: – Lipoblasts, pleomorphic giant cells or round cells – Vascular myxoid stroma • Pitfalls: Lipophages & pseudo‐lipoblasts • Fat easily destroyed (oil globules) & lost with preparation Lipoma & Variants . Angiolipoma (prominent vessels) . Myolipoma (smooth muscle) . Angiomyolipoma (vessels + smooth muscle) . Myelolipoma (hematopoietic elements) . Chondroid lipoma (chondromyxoid matrix) . Spindle cell lipoma (CD34+ spindle cells) . Pleomorphic lipoma . Intramuscular lipoma Lipoma 4 4/1/2020 Angiolipoma Myelolipoma Lipoblasts • Typically multivacuolated • Can be monovacuolated • Hyperchromatic nuclei • Irregular (scalloped) nuclei • Nucleoli not typically seen 5 4/1/2020 WD liposarcoma Layfield et al.
    [Show full text]
  • Acral Manifestations of Soft Tissue Tumors Kristen M
    Clinics in Dermatology (2017) 35,85–98 Acral manifestations of soft tissue tumors Kristen M. Paral, MD, Vesna Petronic-Rosic, MD, MSc⁎ Section of Dermatology, University of Chicago Pritzker School of Medicine, Chicago, IL Abstract This group of biologically diverse entities is united by topographic localization to the hands and feet. Categorizing tumors by body site narrows the differential into a short list of possibilities that can facil- itate accurate and rapid diagnosis. The goal of this review is to provide a practical approach to soft tissue tumors of acral locations for clinicians, pathologists, and researchers alike. What ensues in the following text is that tight coupling of the clinical picture and histopathologic findings should produce the correct diagno- sis, or at least an abbreviated differential. The salient clinicopathologic, immunohistochemical, and molec- ular features are presented alongside current treatment recommendations for each entity. © 2017 Elsevier Inc. All rights reserved. Introduction actin (SMA) and are deemed “myofibroblasts.”1 The tumors under this heading express combinations of CD34, FXIIIa, fi The entities presented herein are categorized on the basis of and SMA. The synthesis of collagen by broblasts translates fi fi morphogenesis (where possible) and by biologic potential as to a brous consistency that clinically imparts a rm texture benign, intermediate, and malignant neoplasms. on palpation, and, macroscopically, a gray-white or white-tan cut surface. The entities discussed next have no metastatic po- tential; that is, simple excision is adequate. Fibrous and related tissues: Benign lesions Fibroma of tendon sheath fi fl The ontogenetic classi cation of benign lesions re ects appar- Also known as tenosynovial fibroma, compared with other fi fi fi ent broblastic or broblast-like morphogenesis.
    [Show full text]
  • Mesenchymal) Tissues E
    Bull. Org. mond. San 11974,) 50, 101-110 Bull. Wid Hith Org.j VIII. Tumours of the soft (mesenchymal) tissues E. WEISS 1 This is a classification oftumours offibrous tissue, fat, muscle, blood and lymph vessels, and mast cells, irrespective of the region of the body in which they arise. Tumours offibrous tissue are divided into fibroma, fibrosarcoma (including " canine haemangiopericytoma "), other sarcomas, equine sarcoid, and various tumour-like lesions. The histological appearance of the tamours is described and illustrated with photographs. For the purpose of this classification " soft tis- autonomic nervous system, the paraganglionic struc- sues" are defined as including all nonepithelial tures, and the mesothelial and synovial tissues. extraskeletal tissues of the body with the exception of This classification was developed together with the haematopoietic and lymphoid tissues, the glia, that of the skin (Part VII, page 79), and in describing the neuroectodermal tissues of the peripheral and some of the tumours reference is made to the skin. HISTOLOGICAL CLASSIFICATION AND NOMENCLATURE OF TUMOURS OF THE SOFT (MESENCHYMAL) TISSUES I. TUMOURS OF FIBROUS TISSUE C. RHABDOMYOMA A. FIBROMA D. RHABDOMYOSARCOMA 1. Fibroma durum IV. TUMOURS OF BLOOD AND 2. Fibroma molle LYMPH VESSELS 3. Myxoma (myxofibroma) A. CAVERNOUS HAEMANGIOMA B. FIBROSARCOMA B. MALIGNANT HAEMANGIOENDOTHELIOMA (ANGIO- 1. Fibrosarcoma SARCOMA) 2. " Canine haemangiopericytoma" C. GLOMUS TUMOUR C. OTHER SARCOMAS D. LYMPHANGIOMA D. EQUINE SARCOID E. LYMPHANGIOSARCOMA (MALIGNANT LYMPH- E. TUMOUR-LIKE LESIONS ANGIOMA) 1. Cutaneous fibrous polyp F. TUMOUR-LIKE LESIONS 2. Keloid and hyperplastic scar V. MESENCHYMAL TUMOURS OF 3. Calcinosis circumscripta PERIPHERAL NERVES II. TUMOURS OF FAT TISSUE VI.
    [Show full text]
  • The Role of Cytogenetics and Molecular Diagnostics in the Diagnosis of Soft-Tissue Tumors Julia a Bridge
    Modern Pathology (2014) 27, S80–S97 S80 & 2014 USCAP, Inc All rights reserved 0893-3952/14 $32.00 The role of cytogenetics and molecular diagnostics in the diagnosis of soft-tissue tumors Julia A Bridge Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE, USA Soft-tissue sarcomas are rare, comprising o1% of all cancer diagnoses. Yet the diversity of histological subtypes is impressive with 4100 benign and malignant soft-tissue tumor entities defined. Not infrequently, these neoplasms exhibit overlapping clinicopathologic features posing significant challenges in rendering a definitive diagnosis and optimal therapy. Advances in cytogenetic and molecular science have led to the discovery of genetic events in soft- tissue tumors that have not only enriched our understanding of the underlying biology of these neoplasms but have also proven to be powerful diagnostic adjuncts and/or indicators of molecular targeted therapy. In particular, many soft-tissue tumors are characterized by recurrent chromosomal rearrangements that produce specific gene fusions. For pathologists, identification of these fusions as well as other characteristic mutational alterations aids in precise subclassification. This review will address known recurrent or tumor-specific genetic events in soft-tissue tumors and discuss the molecular approaches commonly used in clinical practice to identify them. Emphasis is placed on the role of molecular pathology in the management of soft-tissue tumors. Familiarity with these genetic events
    [Show full text]
  • Pathology and Genetics of Tumours of Soft Tissue and Bone
    bb5_1.qxd 13.9.2006 14:05 Page 3 World Health Organization Classification of Tumours WHO OMS International Agency for Research on Cancer (IARC) Pathology and Genetics of Tumours of Soft Tissue and Bone Edited by Christopher D.M. Fletcher K. Krishnan Unni Fredrik Mertens IARCPress Lyon, 2002 bb5_1.qxd 13.9.2006 14:05 Page 4 World Health Organization Classification of Tumours Series Editors Paul Kleihues, M.D. Leslie H. Sobin, M.D. Pathology and Genetics of Tumours of Soft Tissue and Bone Editors Christopher D.M. Fletcher, M.D. K. Krishnan Unni, M.D. Fredrik Mertens, M.D. Coordinating Editor Wojciech Biernat, M.D. Layout Lauren A. Hunter Illustrations Lauren A. Hunter Georges Mollon Printed by LIPS 69009 Lyon, France Publisher IARCPress International Agency for Research on Cancer (IARC) 69008 Lyon, France bb5_1.qxd 13.9.2006 14:05 Page 5 This volume was produced in collaboration with the International Academy of Pathology (IAP) The WHO Classification of Tumours of Soft Tissue and Bone presented in this book reflects the views of a Working Group that convened for an Editorial and Consensus Conference in Lyon, France, April 24-28, 2002. Members of the Working Group are indicated in the List of Contributors on page 369. bb5_1.qxd 22.9.2006 9:03 Page 6 Published by IARC Press, International Agency for Research on Cancer, 150 cours Albert Thomas, F-69008 Lyon, France © International Agency for Research on Cancer, 2002, reprinted 2006 Publications of the World Health Organization enjoy copyright protection in accordance with the provisions of Protocol 2 of the Universal Copyright Convention.
    [Show full text]
  • Mast Cell Infiltration and Leukotriene
    Journal of Cancer Therapy, 2015, 6, 606-612 Published Online July 2015 in SciRes. http://www.scirp.org/journal/jct http://dx.doi.org/10.4236/jct.2015.67066 Mast Cell Infiltration and Leukotriene Receptor Expression in Various Tumors: Possible Clinical Application of Common Pathological Findings Concerned with Tumor Development Masao Sugamata*, Tomomi Ihara, Miho Sugamata Department of Pathology, Tochigi Institute of Clinical Pathology, Tochigi, Japan Email: *[email protected] Received 18 June 2015; accepted 18 July 2015; published 21 July 2015 Copyright © 2015 by authors and Scientific Research Publishing Inc. This work is licensed under the Creative Commons Attribution International License (CC BY). http://creativecommons.org/licenses/by/4.0/ Abstract Since the mechanisms of the developmental processes of tumors remain unclear, early detection and early treatment of the tumors is necessary to save patients with malignant tumors. Therapies currently available to patients are surgery, chemotherapy, and radiotherapy. However, there are many patients who cannot be saved by such therapies. In this study, we found the common fea- tures of various tumor tissues, and we demonstrated the effect of therapeutics that target them by using experimental rats with spontaneous tumors. 26 kinds of human tumors (epithelial or me- senchymal origin, and malignant or benign) and Sprague-Dawley rats with spontaneous mammary gland tumors were examined by light and electron microscope. To detect of mast cells and leuko- triene receptor, toluidine blue stain and immunohistochemical stain were performed. The rats were orally administered one of leukotriene receptor antagonists. We found that the presence of numerous mast cells and expression of leukotriene receptors in various tumor (human tumors and rat spontaneous tumors).
    [Show full text]
  • Cutaneous Fetal Rhabdomyoma a Case Report and Historical Review of the Literature
    CASE REPORT Cutaneous Fetal Rhabdomyoma A Case Report and Historical Review of the Literature Sarah N. Walsh, MD* and Mark A. Hurt, MDw mas; such articles have documented different histologic Abstract: Fetal rhabdomyomas are well-documented tumors, types, local regrowth and possible malignancy, a broader affecting both children and adults that are composed of age distribution, various immunohistochemical staining immature striated muscle at the sixth to tenth-week stage of patterns, occurrence in particular syndromes, and their development. Although there is often a predilection for the head presence in a wide assortment of organs and anatomic and neck region, these tumors have been identified in a wide sites.1,2,4–8,11,15,16,18,20–25,29,33 To the best of our knowl- array of anatomic sites. A primary cutaneous presentation, edge, however, fetal rhabdomyoma has never been however, has not yet been described. We report the first case of a diagnosed definitively in the skin. We present the first fetal rhabdomyoma arising in the skin of a 1-year old girl. After case of a cutaneous fetal rhabdomyoma found in a 1- the initial biopsy, an incomplete excision was performed with year-old girl with a lesion on the chin. tumor present histologically at multiple surgical margins. In a follow-up period of 54 months, there has been no lesional regrowth or evidence of further progression. This case is CASE REPORT detailed, in addition to a literature-based review of the historical The patient was a 1-year-old girl seen by a pediatric and conceptual development of the neoplasm known as fetal dermatologist for a chin lesion that had been present for the past 10 months but had not changed noticeably during that period.
    [Show full text]
  • Integrated Data Analysis Reveals Uterine Leiomyoma Subtypes with Distinct Driver Pathways and Biomarkers
    Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers Miika Mehinea,b, Eevi Kaasinena,b, Hanna-Riikka Heinonena,b, Netta Mäkinena,b, Kati Kämpjärvia,b, Nanna Sarvilinnab,c, Mervi Aavikkoa,b, Anna Vähärautiob, Annukka Pasanend, Ralf Bützowd, Oskari Heikinheimoc, Jari Sjöbergc, Esa Pitkänena,b, Pia Vahteristoa,b, and Lauri A. Aaltonena,b,e,1 aMedicum, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki FIN-00014, Finland; bResearch Programs Unit, Genome-Scale Biology, University of Helsinki, Helsinki FIN-00014, Finland; cDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki FIN-00029, Finland; dDepartment of Pathology and HUSLAB, Helsinki University Hospital, University of Helsinki, Helsinki FIN-00014, Finland; and eDepartment of Biosciences and Nutrition, Karolinska Institutet, SE-171 77, Stockholm, Sweden Edited by Bert Vogelstein, Johns Hopkins University, Baltimore, MD, and approved December 18, 2015 (received for review September 25, 2015) Uterine leiomyomas are common benign smooth muscle tumors that with deletions affecting collagen, type IV, alpha 5 and collagen, type impose a major burden on women’s health. Recent sequencing studies IV, alpha 6 (COL4A5-COL4A6) may constitute a rare fourth subtype have revealed recurrent and mutually exclusive mutations in leiomyo- (4). HMGA2 and MED12 represent the two most common driver mas, suggesting the involvement of molecularly distinct pathways. In genes and together contribute to 80–90% of all leiomyomas (5). this study, we explored transcriptional differences among leiomyomas Less frequently, leiomyomas harbor 6p21 rearrangements af- harboring different genetic drivers, including high mobility group fecting high mobility group AT-hook 1 (HMGA1) (6).
    [Show full text]
  • Lipomata of the Uterus
    University of Louisville ThinkIR: The University of Louisville's Institutional Repository Electronic Theses and Dissertations 1940 Lipomata of the uterus. DeLou Perrin Hall University of Louisville Follow this and additional works at: https://ir.library.louisville.edu/etd Part of the Medicine and Health Sciences Commons Recommended Citation Hall, DeLou Perrin, "Lipomata of the uterus." (1940). Electronic Theses and Dissertations. Paper 2035. https://doi.org/10.18297/etd/2035 This Master's Thesis is brought to you for free and open access by ThinkIR: The University of Louisville's Institutional Repository. It has been accepted for inclusion in Electronic Theses and Dissertations by an authorized administrator of ThinkIR: The University of Louisville's Institutional Repository. This title appears here courtesy of the author, who has retained all other copyrights. For more information, please contact [email protected]. UNIVERSrTY .OF LOUISVILLE LIPOMATA OF THE UTERUS " A Dis.sertation Submitted to the Faculty Of the Graduate School of the University of Louisville In Partial Fulfillment of the Requirements for the Degree Of Master of Science Department .of Pathology By DeLou Perrin Hall,.. Year 1940 '. PREFAOE In the writing of this thesis I have spent many happy hours in search of literature relative to Lipomata of the uterus, the task has been enjoyable because of the ever stimulating influence of the Frofessor of Pathology in the University of Louisville, Dr. A. James Miller, to whom I am grateful. To my associate and erstwhile Professor of Surgery, Dr. J. Garland Sherrill, whose profound wisdom has been a tlLamp unto my- feet and a light unto my- path," my sincere thanks.
    [Show full text]
  • Dermoscopy As an Adjuvant Tool for Detecting Skin Leiomyomas In
    Diluvio et al. BMC Dermatology 2014, 14:7 http://www.biomedcentral.com/1471-5945/14/7 CASE REPORT Open Access Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas Laura Diluvio1*, Claudia Torti1, Alessandro Terrinoni2, Eleonora Candi2, Raffaella Piancatelli3, Emilio Piccione3, Evelin Jasmine Paternò4, Sergio Chimenti1, Augusto Orlandi5, Elena Campione1† and Luca Bianchi1† Abstract Background: Hereditary syndromes frequently need the cooperation of different specialties to increase diagnostic competence. Multiple cutaneous and uterine leiomyomatosis syndrome is a rare autosomal dominant disorder caused by the mutations of the fumarate hydratase gene, demonstrated in 80 to 100 percent of affected individuals. This can be linked to an increased risk of renal cancer in both sexes. The skin involvement is described to highlight the diagnostic role of the cutaneous counterpart in identifying this rare syndrome. Case presentation: A 37-year-old woman suffering from several uterine fibroids presented multiple, painful, papulo-nodules on her left subscapular side, both forearms and legs. The patient underwent surgery on six lesions: five were leiomyomas, whilst one was a dermatofibroma. Genetic sequencing did not evidence known fumarate hydratase gene mutations. Dermoscopy showed a brown delicate pigmented network and included leiomyomas among the non-melanocytic benign skin tumours featuring a dermatofibroma-like pattern. Abdominal computerized-tomography scan did not reveal renal cancer, but brain magnetic resonance imaging showed one asymptomatic cerebral cavernoma. The patient benefited from the surgical removal of the five larger cutaneous lesions and from gabapentin, which relieved her pain. Conclusions: This observation highlights the usefulness of dermoscopy in the diagnosis of cutaneous leiomyomas disclosing multiple cutaneous and uterine leiomyomatosis syndrome.
    [Show full text]
  • RHABDOMYOMA of the OVARY Tumors of Striated Muscle Are Sufficiently Rare to Make the Observation of a New and Characteristic
    RHABDOMYOMA OF THE OVARY H. E. HIMWICH From the Department oj Pathology, Cornell University Medical College, New York Received for publication, December 12, 1919 Tumors of striated muscle are sufficiently rare to make the observation of a new and characteristic case worthy of record. The rhabdomyoma which is the subject of the present discussion is of special interest because of the peculiar forms assumed by the myogenic cells and the wide variations of structure in the tumor. At the present time a detailed discussion of the literature of this neoplasm is unnecessary; but the facts which are of more direct bearing on the present case may be mentioned. Bene- nati’s list of 65 cases was published in 1903; and the cases reported since then do not show any material change in the relative frequency of this tumor in the various pmts of the body. They may be divided according to the regions in which they occur. Rhabdomyoma is found most often in the genito- urinary tract. There are 39 cases occurring in this region: kid- ney, 13; testis, 9; uterus, 6; pelvis of the kidney, 3; vagina, 3; bladder, 3; ovary or uterus, 1; ovary, 2. The tumor of the ovary described by Virchow in 1850 was a papillary cystic rhabdo- myosarcoma, some of the papillae being formed of striated muscle. A second rhabdomyoma of the ovary was reported by Vignard. It was similar to the tumor about to be described, the greater part being striated muscular tissue with cystic degeneration at one extremity. Wolfensberger noted the frequency of this tumor in the neck and adjoining regions, which stand second to the genitourinary tract with 9 cases.
    [Show full text]