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      Leiomiomas cutáneos: revisión clinicopatológica y epidemiológica Translated title: Cutaneous leiomyomas: a clinicpathological and epidemiological review

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          Resumen

          Fundamento

          Los leiomiomas cutáneos, superficiales o suprafasciales, se dividen en tres variantes: piloleiomiomas (PL), angioleiomiomas (AL) y leiomiomas genitales (LG) que incluyen las formas vulvares, escrotales y areolares. El objetivo fue establecer las características clinicohistológicas y la incidencia de cada variante, y las posibles asociaciones con neoplasias internas.

          Material y métodos.

          Se revisaron 255 casos de leiomiomas cutáneos diagnosticados entre 1982 y 2018 en los servicios de Anatomía Patológica de tres centros hospitalarios (Navarra y Alicante). Se describieron y compararon variables demográficas, clínicas, histológicas e inmunohistoquímicas.

          Resultados

          La incidencia en Navarra de PL fue 4,3 casos por año y millón de habitantes, de AL 20 y de LG 1,4. Las formas cutáneas suponen aproximadamente el 3,5 % del total de leiomiomas. La población con PL sufrió más frecuentemente cáncer de mama (OR = 4,8; IC95%: 1,3-17,4; p = 0,006). Los leiomiomas areolares son de pequeño tamaño, acompañados de dolor local, predominantemente fasciculares o sólidos, con muy rara afectación del tejido celular subcutáneo y escasa atipia. Esto contrasta con el resto de LG, de tamaño medio y rara vez dolorosos, predominantemente nodulares, con frecuente afectación del tejido celular subcutáneo y atipia.

          Conclusiones

          Se aporta información sobre las características clinicohistológicas de las distintas variantes de leiomiomas, según las cuales debería replantearse la clasificación de los leiomiomas areolares fuera del grupo de LG. Se detectó una asociación entre PL y carcinoma de mama que deberá confirmarse en futuros estudios para determinar si este leiomioma constituye un marcador de riesgo de cáncer de mama en mujeres.

          Abstract

          Background

          Cutaneous, superficial and or suprafascial leiomyoma are divided into three variants: piloleiomyomas (PL), angioleiomyomas (AL) and genital leiomyomas (GL) that include the vulvar, scrotal and areolar forms. This study set out to establish the clinical and histological characteristics and incidence of each variant, and any likely associations with internal neoplasms.

          Methods

          A review was carried out of 255 cases of cutaneous leiomyomas diagnosed between 1982 and 2018 at the Pathology departments of three hospitals (Navarra and Alicante). Demographic, clinical, histological and immunohistochemical variables were described and compared.

          Results

          The incidence of PL in Navarra was 4.3 cases per million inhabitants a year, with another 20 cases of AL and 1.4 cases of GL. Cutaneous forms make up approximately 3.5% of the total leiomyomas. The population with PL suffered more frequently from breast cancer (OR = 4.8; CI 95%: 1.3-17.4; p = 0.006). Nipple leiomyomas are small, accompanied by localised pain, and are predominantly fascicular or solid, with very infrequent effect on the subcutaneous cellular tissue and scarce atypia. This makes for a contrast with the other GLs, which are medium sized and infrequently painful, predominantly nodular, and frequent effect on the subcutaneous tissue and atypia.

          Conclusions

          The information provided here about the clinical and histological characteristics of the different varieties of leiomyomas indicate that there is a need to reconsider the classification of nipple leiomyomas outside the group of GLs. An association between PL and breast carcinoma was detected, which needs to be confirmed in future studies so as to determine if this leiomyoma is a risk marker for breast cancer.

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          Most cited references39

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          Fumarate hydratase in cancer: A multifaceted tumour suppressor

          Cancer is now considered a multifactorial disorder with different aetiologies and outcomes. Yet, all cancers share some common molecular features. Among these, the reprogramming of cellular metabolism has emerged as a key player in tumour initiation and progression. The finding that metabolic enzymes such as fumarate hydratase (FH), succinate dehydrogenase (SDH) and isocitrate dehydrogenase (IDH), when mutated, cause cancer suggested that metabolic dysregulation is not only a consequence of oncogenic transformation but that it can act as cancer driver. However, the mechanisms underpinning the link between metabolic dysregulation and cancer remain only partially understood. In this review we discuss the role of FH loss in tumorigenesis, focusing on the role of fumarate as a key activator of a variety of oncogenic cascades. We also discuss how these alterations are integrated and converge towards common biological processes. This review highlights the complexity of the signals elicited by FH loss, describes that fumarate can act as a bona fide oncogenic event, and provides a compelling hypothesis of the stepwise neoplastic progression after FH loss.
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            Angioleiomyoma. A clinicopathologic reappraisal of 562 cases.

            Five hundred sixty-two cases of angioleiomyoma in our files on soft tissues were reappraised clinicopathologically. There was a preponderance in females with a ratio of 1.7:1. The angioleiomyoma could be separated into three histologic subtypes: capillary or solid (374 cases), cavernous (61 cases), and venous (127 cases) types. Five hundred (89%) occurrences were in the extremities, 48 in the head, and only 14 in the trunk. The tumors caused pain and/or tenderness in 327 cases, in which 262 were of the solid type. In 16 cases, small groups of mature fat cells were demonstrated within the tumor, suggesting the hamartomatous nature of these smooth muscle tumors.
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              • Record: found
              • Abstract: found
              • Article: not found

              Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome.

              To investigate the clinical features of the multiple cutaneous and uterine leiomyomatosis (MCUL) syndrome, including the hereditary leiomyomatosis and renal cell cancer syndrome. A case series of patients with multiple skin leiomyomas solicited via a circular letter to dermatologists. Research institute. A total of 108 affected individuals, including 46 probands and 62 affected relatives. The proportion of probands with underlying fumarate hydratase (FH) mutations, the penetrance of FH mutations, and clinicopathologic features of MCUL. Forty-one (89%) of 46 probands with multiple skin leiomyomas had evidence of germline FH mutations, which were highly penetrant. All 26 male mutation carriers had skin leiomyomas. Of 67 women with FH mutations, 46 (69%) had both skin and uterine leiomyomas; 10 (15%) had only skin leiomyomas; 5 (7%) had only uterine leiomyomas; and 6 (9%) were clinically unaffected. Patients presented with skin leiomyomas at a mean age of 24 years and had a mean of 25 lesions. Forty-one individuals (89%) reported painful lesions, particularly in response to cold or trauma. Fibroids were histologically unremarkable, highly symptomatic, and associated with a high risk of early hysterectomy. One individual had a very aggressive collecting duct renal cancer. The G354R FH mutation predisposed patients to uterine fibroids without skin leiomyomas (P = .03). Many patients with skin leiomyomas had not previously presented for medical attention. Fibroids were rarely recognized as cases of MCUL. Highly penetrant FH mutations underlie MCUL. Increased clinical awareness is important because of the associated risk of severe uterine fibroids and, in some cases, aggressive renal cancer.
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                Author and article information

                Journal
                An Sist Sanit Navar
                An Sist Sanit Navar
                assn
                Anales del Sistema Sanitario de Navarra
                Gobierno de Navarra. Departamento de Salud
                1137-6627
                2340-3527
                15 June 2021
                May-Aug 2021
                : 44
                : 2
                : 163-176
                Affiliations
                [1 ] originalServicio de Dermatología. Hospital Marina Salud de Denia. Alicante. orgdiv1Servicio de Dermatología orgnameHospital Marina Salud de Denia Alicante,
                [2 ] originalServicio de Anatomía Patológica. Hospital de Tudela. Tudela. Navarra. orgdiv1Servicio de Anatomía Patológica orgnameHospital de Tudela Tudela, Navarra,
                [3 ] originalServicio de Anatomía Patológica. Complejo Hospitalario de Navarra. Pamplona. orgdiv1Servicio de Anatomía Patológica orgnameComplejo Hospitalario de Navarra Pamplona,
                [4 ] originalDepartamento de Pediatría. Clínica Universidad de Navarra. Pamplona. normalizedUniversidad de Navarra orgdiv1Departamento de Pediatría orgnameClínica Universidad de Navarra Pamplona, Spain
                [5 ] originalServicio de Dermatología. Complejo Hospitalario de Navarra. Pamplona. orgdiv1Servicio de Dermatología orgnameComplejo Hospitalario de Navarra Pamplona,
                Author notes
                [Correspondencia: ] Alfredo Daniel Agulló Pérez. Servicio de Dermatología, Hospital Marina Salud de Denia Avd. Marina Alta, s/n, 03700 Dénia, Alicante. E-mail: alfredoagullop@ 123456gmail.com
                Article
                10.23938/ASSN.0914
                10019541
                34132245
                fc3c162a-55e2-455f-b9f6-28356b7bdc9d

                Este es un artículo publicado en acceso abierto bajo una licencia Creative Commons

                History
                : 10 July 2020
                : 15 September 2020
                : 02 October 2020
                Page count
                Figures: 2, Tables: 4, Equations: 0, References: 36, Pages: 14
                Categories
                Artículos Originales

                leiomioma,angioleiomioma,piloleiomioma,leiomioma areolar,cáncer de mama,leiomyoma,angioleiomyoma,piloleiomyoma,nipple leiomyoma,breast cancer

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