Moderate hypofractionated radiation therapy and pathologic response for soft tissue sarcomas (STS) of limbs and trunk: experience from a tertiary cancer center

Background Preoperative radiation therapy following by limb-sparing or conservative surgery is a standard approach for limb and trunk STS. Data supporting hypofractionated radiotherapy schedules are scarce albeit biological sensitivity of STS to radiation would justify it. We sought to evaluate the impact of moderate hypofractionation on pathologic response and its influence on oncologic outcomes. Material and methods From October 2018 to January 2023, 18 patients with limb or trunk STS underwent preoperative radiotherapy at a median dose of 52.5 Gy (range 49.5–60 Gy) in 15 fractions of 3.5 Gy (3.3-4 Gy) with or without neoadjuvant chemotherapy. A favorable pathologic response (fPR) was considered as ≥ 90% tumor necrosis on specimen examination. Results All patients completed planned preoperative radiotherapy. Eleven patients (61.1%) achieved a fPR, and 7 patients (36.8%) a complete pathologic response with total disappearance of tumor cells. Nine patients (47%) developed grade 1–2 acute skin toxicity, and 7 patients (38.8%) had wound complications on follow-up. With a median follow-up of 14 months (range 1–40), no cases of local relapse were observed, and actuarial 3-year overall survival (OS) and distant metastases-free survival (DMFS) are 87% and 76.4%, respectively. In the univariate analysis, the presence of a favorable pathologic response (fPR) was associated with improved 3-year OS (100% vs. 56.03%, p = 0.058) and 3-year DMFS (86.91% vs. 31.46%, p = 0.002). Moreover, both complete or partial RECIST response and radiological stabilization of the tumor lesion showed a significant association with higher rates of 3-year distant metastasis-free survival (DMFS) (83% vs. 83% vs. 56%, p < 0.001) and 3-year overall survival (OS) (100% vs. 80% vs. 0, p = 0.002) (AU)

Efficacy of second and third lines of treatment in advanced soft tissue sarcomas: a real-world study

Background Soft tissue sarcomas (STSs) are an uncommon and heterogeneous group of tumours. Several drugs and combinations have been used in clinical practice as second-line (2L) and third-line (3L) treatment. The growth modulation index (GMI) has previously been used as an exploratory efficacy endpoint of drug activity and represents an intra-patient comparison. Methods We performed a real-world retrospective study including all patients with advanced STS who had received at least 2 different lines of treatment for advanced disease between 2010 and 2020 at a single institution. The objective was to study the efficacy of both 2L and 3L treatments, analysing the time to progression (TTP) and the GMI (defined as the ratio of TTP between 2 consecutive lines of therapy). Results Eighty-one patients were included. The median TTP after 2L and 3L treatment was 3.16 and 3.06 months, and the median GMI was 0.81 and 0.74, respectively. The regimens most frequently used in both treatments were trabectedin, gemcitabine-dacarbazine, gemcitabine-docetaxel, pazopanib and ifosfamide. The median TTP by each of these regimens was 2.80, 2.23, 2.83, 4.10, and 5.00 months, and the median GMI was 0.78, 0.73, 0.67, 1.08, and 0.94, respectively. In terms of histotype, we highlight the activity (GMI > 1.33) of gemcitabine-dacarbazine in undifferentiated pleomorphic sarcoma (UPS) and in leiomyosarcoma, pazopanib in UPS, and ifosfamide in synovial sarcoma. Conclusions In our cohort, regimens commonly used after first-line STS treatment showed only slight differences in efficacy, although we found significant activity of specific regimens by histotype (AU)

Therapeutic strategies and clinical evolution of patients with infantile fibrosarcoma: a unique paediatric case series

Background Infantile fibrosarcoma is the most frequent soft tissue sarcoma in newborns or children under one year of age. This tumour often implies high local aggressiveness and surgical morbidity. The large majority of these patients carry the ETV6–NTRK3 oncogenic fusion. Hence, the TRK inhibitor larotrectinib emerged as an efficacious and safe alternative to chemotherapy for NTRK fusion-positive and metastatic or unresectable tumours. However, real-world evidence is still required for updating soft-tissue sarcoma practice guidelines. Objective To report our experience with the use of larotrectinib in pediatric patients. Methods Our case series shows the clinical evolution of 8 patients with infantile fibrosarcoma under different treatments. All patients enrolled in this study received informed consent for any treatment. Results Three patients received larotrectinib in first line. No surgery was needed with larotrectinib, which led to the rapid and safe remission of tumours, even in unusual anatomical locations. No significant adverse effects were observed with larotrectinib. Conclusion Our case series supports that larotrectinib may be a therapeutic option for newborn and infant patients with infantile fibrosarcoma, especially in uncommon locations (AU)

Elastofibroma dorsi: diagnóstico y seguimiento en atención primaria / Elastofibroma dorsi: Diagnosis and follow-up in primary care

Objetivo Presentar una serie de pacientes con elastofibroma dorsi (ED) para recordar la patología y justificar su manejo diagnóstico y terapéutico en el ámbito de la atención primaria. Materiales y métodos Estudio retrospectivo observacional y longitudinal de 12 pacientes con 18ED. Se analizaron las características epidemiológicas, clínicas y de imagen. Los resultados del tratamiento se evaluaron atendiendo al dolor (escala EVA), la función del hombro (escala de Constant y Murley) y la calidad de vida (escala EuroQol-5 dimension [EQ-5D]). El tiempo medio de seguimiento de los casos fue de 60,5meses (5años, RIC: 1-161meses). Resultados Seis pacientes fueron hombres y seis fueron mujeres, con edad media al diagnóstico de 59años. El diagnóstico de sospecha en todos los casos fue clínico y de imagen. Solo tres precisaron intervención quirúrgica. Los resultados de todos fueron satisfactorios. Conclusiones Tanto el diagnóstico como la indicación del tratamiento de un ED puede hacerse en el ámbito de la atención primaria. En los casos típicos, que son mayoría, la historia clínica y una ecografía permiten un diagnóstico de certeza. La indicación terapéutica conservadora o quirúrgica depende de la decisión del paciente informado. Cuando existen dudas diagnósticas o el paciente desea la resección quirúrgica de la tumoración, habría que derivar al paciente al especialista hospitalario (AU)

Objective To present a series of patients with elastofibroma dorsi (ED) in order to recall the pathology and justify its diagnostic and therapeutic management in the primary care setting. Materials and methods Retrospective observational and longitudinal study of 12 patients with 18ED. Epidemiological, clinical and imaging characteristics were analysed. Treatment outcomes were assessed in terms of pain (VAS scale), shoulder function (Constant and Murley scale) and quality of life (EuroQol-5 dimension scale, EQ-5D). The mean follow-up of the cases was 60.5months (5years, range 1-161months). Results Six patients were male and six were female, with a mean age at diagnosis of 59years. The diagnosis of suspicion in all cases was based in clinical and imaging findings. Only three required surgery. The results of all were satisfactory. Conclusions Both the diagnosis and the indication for treatment of an ED can be made in the primary care setting. In typical cases, which are the majority, the clinical history and an ultrasound study allow a diagnosis of certainty. The indication for conservative or surgical treatment depends on the informed patient. When there are diagnostic doubts or the patient wishes surgical resection of the tumour, the patient should be referred to a hospital specialist (AU)

Aportaciones de la medicina nuclear en la enfermedad musculoesquelética tumoral maligna en niños / Contributions of nuclear medicine to malignant musculoskeletal tumor disease in children

Un diagnóstico de cáncer es perturbador a cualquier edad, pero especialmente cuando el paciente es un niño. Solo se puede diagnosticar lo que se sospecha, solo se sospecha lo que se conoce o, al menos, se conoce su existencia, pero los tumores musculoesqueléticos son infrecuentes y, por tanto, muy difíciles de diagnosticar o tratar. Probablemente por su infrecuencia, por la complejidad de las imágenes radiológicas, por la apariencia histopatológica, así como por las serias consecuencias debido a biopsias y tratamientos inadecuados, la patología tumoral musculoesquelética necesita un manejo clínico que debe ser llevado a cabo por un grupo de especialistas con formación específica, que permita un adecuado diagnóstico, la introducción de terapias adyuvantes, así como un tratamiento quirúrgico, haciéndose hoy imprescindible un tratamiento multidisciplinar. Los estudios de imagen proporcionan información esencial sobre la naturaleza de cada lesión, su tamaño, su localización anatómica, el efecto sobre el hueso o los tejidos blandos circundantes y la afectación de las articulaciones adyacentes y las estructuras neurovasculares. En este artículo los autores analizan los avances de las técnicas de medicina nuclear (gammagrafías, PET/TC y SPECT/TC) y su utilidad en la estadificación de tumores musculoesqueléticos malignos pediátricos, así como en la valoración de la respuesta, el seguimiento y el diagnóstico de recidiva (AU)

A diagnosis of cancer is frightening at any age, but especially when the patient is a child. Only what is suspected can be diagnosed, only what is known or at least known to exist is suspected, but musculoskeletal tumors are infrequent and therefore very difficult to diagnose or treat. Probably due to their infrequency, the complexity of the radiological images, histopathological appearance, as well as the serious consequences due to inadequate biopsies and treatments, musculoskeletal tumor pathology requires clinical management that must be carried out by a group of specialists with specific training, allowing an adequate diagnosis, introduction of adjuvant therapies, as well as surgical treatment, making multidisciplinary treatment essential today. Imaging studies provide essential information on the nature of each lesion, its size, its anatomical location, the effect on the surrounding bone or soft tissues and the involvement of adjacent joints and neurovascular structures. In this article the authors will discuss the advances in nuclear medicine techniques (scintigraphy, SPECT/CT and PET/CT) and their usefulness in the staging of pediatric malignant musculoskeletal tumors, as well as in the assessment of response, follow-up, and diagnosis of recurrence (AU)

Quiste epidérmico de dimensiones excepcionales en región lumbosacra: caso clínico / Exceptional dimensions epidermal cyst in the lumbosacral region: case report

Presentamos el caso clínico de un paciente de 57 años con tumoración de tejidos blandos a nivel lumbosacro de 30 años de evolución, de 17 x 13 x 9 cm en sus diámetros máximos. Incluimos en detalle el procedimiento diagnóstico y terapéutico seguido así como el reporte histopatológico, consistente en un quiste epidérmico de inclusión.Presentamos este caso por las excepcionales dimensiones de la tumoración y llevamos a cabo una revisión de la literatura al respecto con el fin de actualizar la información sobre esta patología. (AU)

We present the clinical case of a 57-year-old patient with a lumbosacral soft tissue tumor of 30 years of evolution, measuring 17 x 13 x 9 cm in its maximum diame- ters. We include in detail the diagnostic and therapeutic procedures followed, as well as the histopathological report, consisting of an epidermal inclusion cyst.The main interest of this case is the exceptional dimension of the cyst, and by the way, we carried out a literature review in this regard in order to update the information on this pathology. (AU)

Differential diagnosis of myxoid soft tissue tumors. Experience in the Clinical University Hospital of Valencia

Soft tissue tumors with myxoid components are often a diagnostic challenge for the pathologist. We retrospectively reviewed 41 cases of soft tissue tumors with myxoid components diagnosed in our center over a five-year period. The most frequent diagnoses were myxofibrosarcoma and myxoid liposarcoma, followed by low-grade fibromyxoid sarcoma, low-grade fibromyxoid tumor and myxoid neurofibroma. Other diagnoses included were extraskeletal myxoid chondrosarcoma, myxoinflammatory fibroblastic sarcoma, low-grade myxoliposarcoma, myofibrosarcoma, fibromatosis, solitary fibrous tumor, non-ossifying variant of ossifying fibromyxoid tumor and ancient neurinoma with myxoid degeneration. Immunohistochemical and molecular biology studies contributed significantly to the diagnosis. We highlight the importance of immunohistochemistry for MUC4 in the diagnosis of low-grade fibromyxoid sarcoma, and underscore the need for molecular studies in selected cases. Furthermore, several myxoid neoplasms present specific chromosomal translocations, therefore molecular biology studies to detect fusion genes are usually essential for the diagnosis. When the characteristics of the sample are not adequate for molecular biology, or no specific alterations are described, an in-depth knowledge of the histology of these lesions is still necessary to decide the most accurate diagnosis.(AU)

Los tumores de tejidos blandos con un componente mixoide son con frecuencia un desafío diagnóstico para el patólogo. Revisamos retrospectivamente un total de 41 casos de tumores mixoides diagnosticados en nuestro centro durante un período de 5 años. Los diagnósticos más frecuentes fueron mixofibrosarcoma y liposarcoma mixoide, seguidos de sarcoma fibromixoide de bajo grado, tumor fibromixoide de bajo grado y neurofibroma mixoide. Otros diagnósticos incluyen condrosarcoma mixoide extraesquelético, sarcoma fibroblástico mixoinflamatorio, mixoliposarcoma de bajo grado, miofibrosarcoma, fibromatosis, tumor fibroso solitario, variante no osificante de tumor fibromixoide osificante y neurinoma antiguo con degeneración mixoide. Los estudios de inmunohistoquímica y de biología molecular contribuyeron significativamente al diagnóstico. Destacamos la importancia de la detección inmunohistoquímica de MUC4 para el diagnóstico de sarcoma fibromixoide de bajo grado y revisamos la necesidad de estudios moleculares en casos seleccionados. Además, algunas neoplasias mixoides presentan translocaciones cromosómicas específicas, por lo que el estudio molecular para detectar genes de fusión suele ser esencial para el diagnóstico. Cuando las características de la muestra no son adecuadas para el estudio de biología molecular, o no hay descritas alteraciones específicas, sigue siendo necesario un conocimiento profundo de la histología de estas lesiones para decidir el diagnóstico más apropiado.(AU)

Tumor fibroso solitario variedad lipomatosa con fusión génica NAB2/STAT6. Estudio de un caso de localización geniana y revisión de la literatura / Fat-forming solitary fibrous tumor with NAB2/ STAT6 gene fusion. Case report of genial location and literature review

El tumor fibroso solitario variedad lipomatosa es una neoplasia de partes blandas compuesta por tejido adiposo maduro y áreas de hemangiopericitoma. Un varón de 53 años se presentó clínicamente con asimetría facial. La resonancia magnética maxilofacial demostró una lesión quística, de 3 x 2 cm, por delante de la pared anterior del seno maxilar. Histológicamente, había áreas fusocelulares densas que expresaban CD34, CD99, Bcl-2 y STAT6, zonas mixoides, vasos sanguíneos hemangiopericitomatosos y adipocitos S100 positivos. La fusión génica NAB2/STAT6 fue revelada mediante RT-PCR. El principal diagnóstico diferencial se planteó con el lipoma de células fusiformes y la variante maligna del tumor fibroso solitario lipomatoso. La sobreexpresión de STAT6 y la fusión génica NAB2-STAT6 son específicas del tumor fibroso solitario lipomatoso y la presencia de lipoblastos y áreas de tumor lipomatoso atípico sugiere malignidad. Estos tumores en cabeza y cuello tienen un comportamiento biológico benigno.(AU)

The lipomatous variety solitary fibrous tumor is a soft tissue neoplasm composed of mature adipose tissue and hemangiopericytoma areas. A 53-year-old man consulted for facial asymmetry and maxillofacial magnetic resonance imaging showed a cystic lesion, 3 x 2 cm in size, in front of the anterior wall of the maxillary sinus. Histologically, there were dense spindle cells expressing CD34, CD99, Bcl-2, and STAT6, myxoid zones, hemangiopericytomatous blood vessels, and S100 positive adipocytes. NAB2/STAT6 gene fusion was revealed by RT-PCR. The main differential diagnosis was raised with the spindle cell lipoma and malignant variant of the lipomatous solitary fibrous tumor. STAT6 overexpression and NAB2/STAT6 gene fusion are specific for lipomatous solitary fibrous tumor and the presence of lipoblasts and atypical lipomatous tumor areas suggests malignancy. These tumors located in the head and neck region have a benign biological behavior.(AU)

Encuesta nacional sobre el tratamiento de los sarcomas en España / National survey on the treatment of sarcomas in Spain

Las unidades encargadas de los sarcomas en España están poco estudiadas. El objetivo es conocer el manejo de esta patología para identificar áreas de mejora mediante un estudio multicéntrico basado en una encuesta voluntaria.La encuesta fue completada por 74 cirujanos de centros diferentes. El 32,4% se dedican exclusivamente a los sarcomas. Solo el 24,3% han recibido formación específica. El hospital más frecuente fue el tercer nivel (56,8%), donde el 38,1% de los cirujanos pertenecen a sociedades/grupos de trabajo específicos vs. 9,4% en segundo-primer nivel. El número de cirujanos con formación teórica específica y artículos publicados en este campo es mayor en los de tercer nivel. El 55,4% pertenecen a una unidad multidisciplinar. Los equipos multidisciplinares están disponibles en el 57% de los hospitales terciarios vs. el 28% en los demás.La mayoría de los servicios que atienden esta patología presentan escasa especialización, baja carga de trabajo y carecen de equipos multidisciplinares (AU)

Surgical units attending sarcomas in Spain are poor studied. The aim is to know the management of this pathology to identify areas of improvement through multicenter study based on a voluntary survey.The survey was completed by 74 surgeons of different hospitals, which 32.4% is exclusively dedicated to sarcomas. Only 24.3% declared to receive specific training in sarcomas. The most frequent type of hospital was the third level (56.8%), where 38.1% of the surgeons belong to societies or working-groups in sarcoma fields vs. 9.4% in first-second levels. The number of surgeons with specific theoretical training and papers published in this field are higher in third level hospitals. 55.4% belonged to a multidisciplinary unit. A multidisciplinary team was available in 57% of third level hospital vs. 28% in others.Most services in charge of these patients are characterized by deficient specialization, low workload and the absence of a multidisciplinary team (AU)

Rabdomiosarcoma alveolar. Dos casos negativos para la fusión PAX3-FOXO1 y PAX7-FOXO1 / Alveolar rhabdomyosarcoma: Two fusion-negative cases lacking PAX3-FOXO1 and PAX7-FOXO1

Los rabdomiosarcomas son los tumores de partes blandas más frecuentes en la edad pediátrica y en adultos jóvenes. Morfológicamente se distinguen dos subtipos principales: el rabdomiosarcoma alveolar y el rabdomiosarcoma embrionario. El subtipo alveolar se asocia generalmente con un peor pronóstico y presenta una fusión génica característica que clásicamente se ha utilizado para confirmar el diagnóstico: PAX3/7-FOXO1. Presentamos dos casos que fueron remitidos a nuestro centro. Ambos mostraron morfología alveolar clásica y diferenciación muscular basada en la inmunohistoquímica; no obstante, carecían de la fusión característica PAX3/7-FOXO1. El objetivo de este artículo es resaltar la importancia del estudio molecular de estos casos no solo como herramienta diagnóstica sino también como factor pronóstico importante.(AU)

Rhabdomyosarcoma is the most common soft tissue sarcoma in childhood and adolescence. Morphologically, two major forms are described: alveolar and embryonal rhabdomyosarcoma. The former is generally associated with a poorer prognosis and it usually harbors a characteristic fusion gene, PAX3/7-FOXO1, that is used to confirm the diagnosis. We present two cases, both of which exhibited the classic alveolar histology with immunohistochemical myogenic differentiation (Desmin, MYOD-1 and Myogenin expression) and lacked the characteristic fusion gene PAX3/7-FOXO1. The aim of this report is to highlight the importance of the molecular status in the study and diagnosis of these cases, as it seems to be not only a useful diagnostic tool, but also an important prognostic factor.(AU)

SEOM Clinical Guideline of management of soft-tissue sarcoma (2020)

Soft-tissue sarcomas constitute an uncommon and heterogeneous group of tumors of mesenchymal origin. Diagnosis, treatment, and management should be performed by an expert multidisciplinary team. MRI/CT of the primary tumor and biopsy is mandatory before any treatment. Wide surgical resection with tumor-free tissue margin is the mainstay for localized disease. Radiotherapy is indicated in large, deep, high-grade tumors, or after marginal resection not suitable for re-excision. Perioperative chemotherapy should be discussed for high-risk sarcomas of the extremities and trunk-wall. In the case of oligometastatic disease, patients should be considered for local therapies. First-line treatment with anthracyclines (or in combination with ifosfamide) is the treatment of choice. Other drugs have shown activity in second-line therapy and in specific histological subtypes but options are limited and thus, a clinical trial should always be discussed (AU)

Intraoral soft tissue lipomas: clinicopathological features from 91 cases diagnosed in a single Oral Pathology service

BACKGROUND: intraoral soft tissue lipomas are relatively uncommon mesenchymal neoplasms. Few papers have been published comparing the clinicopathological features of these tumors in different populations. The aim of the present study was to analyze the clinicopathological features from intraoral soft tissue lipomas diagnosed in a Brazilian population. MATERIAL AND METHODS: all cases diagnosed as intraoral soft tissue lipomas in an Oral Pathology laboratory from 2005 to 2019 were retrieved and descriptively analyzed; statistical analysis was performed for comparison of the clinical and demographic parameters. RESULTS: 91 intraoral lipomas were retrieved, including 56 lipomas, 30 fibrolipomas, 2 spindle cell lipomas, 2 angiolipomas, and 1 chondrolipoma. Mean age of the patients was 62.2 years and females represented 57.1% of the sample. Mean time of complaint was 45.4 months and mean size of the lesions was 16.2 millimeters. Buccal mucosa (38.8%), lower lip (18.8%) and tongue (16.5%) were the most commonly affected locations. Fibrolipomas were more common in females (p = 0,037) and presented as smaller lesions (p = 0,011) in comparison to lipomas. CONCLUSIONS: report of clinicopathological data from intraoral lipomas aid in establishing their differential diagnostic criteria and clinical profile in this specific location

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Un caso raro de lesiones faciales: granulomatosis orofacial / A rare case of facial injuries: orofacial granulomatosis

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Elastofibromas múltiples sintomáticos que simulan tumor maligno de tejidos blandos en la PET/TC con 18F-FDG / Symptomatic multiple elastofibromas mimicking malignant soft tissue tumor on 18F FDG PET/CT

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