Genetic Predisposition to Sarcoma: What Should Clinicians Know?

OPINION STATEMENT: Pathogenic germline variants in the setting of several associated cancer predisposition syndromes (CPS) may lead to the development of sarcoma. We would consider testing for a CPS in patients with a strong family history of cancer, multiple primary malignancies, and/or pediatric/adolescent/young adult patients diagnosed with other malignancies strongly associated with CPS. When a CPS is diagnosed in a patient with sarcoma, additional treatment considerations and imaging options for those patients are required. This applies particularly to the use of radiation therapy, ionizing radiation with diagnostic imaging, and the use of alkylating chemotherapy. As data and guidelines are currently lacking for many of these scenarios, we have adopted a shared decision-making process with patients and their families. If the best chance for cure in a patient with CPS requires utilization of radiation therapy or alkylating chemotherapy, we discuss the risks with the patient but do not omit these modalities. However, if there are treatment options that yield equivalent survival rates, yet avoid these modalities, we elect for those options. Considering staging imaging and post-therapy evaluation for sarcoma recurrence, we avoid surveillance techniques that utilize ionizing radiation when possible but do not completely omit them when their use is indicated.

Opportunities and Challenges in Soft Tissue Sarcoma Risk Stratification in the Era of Personalised Medicine.

OPINION STATEMENT: Soft tissue sarcomas (STS) are a rare and heterogeneous group of cancers. Treatment options have changed little in the past thirty years, and the role of neoadjuvant chemotherapy is controversial. Accurate risk stratification is crucial in STS in order to facilitate clinical discussions around peri-operative treatment. Current risk stratification tools used in clinic, such as Sarculator, use clinicopathological characteristics and may be specific to anatomical site or to histology. More recently, risk stratification tools have been developed using molecular or immunological data. Combining Sarculator with other risk stratification tools may identify novel patient groups with differential clinical outcomes. There are several considerations when translating risk stratification tools into widespread clinical use, including establishing clinical utility, health economic value, being applicable to existing clinical pathways, having strong real-world performance, and being supported by investment into infrastructure. Future work may include incorporation of novel modalities and data integration techniques.

High-Grade Pleomorphic Sarcoma in Postauricular Keloid Scar After Surgical Excision and Radiation.

Keloid scars can cause significant morbidity to the patient including substantial cosmetic disfigurement, particularly in the head and neck region. Surgical excision followed by immediate postoperative radiation therapy has been shown to be more effective than single modality treatment. Radiation therapy increases risk for radiation-induced malignancy, though very few cases have been reported in the treatment of keloids. We report the case of a patient with a large postauricular keloid treated with excision and immediate post-operative radiation who developed a high-grade pleomorphic sarcoma in the scar bed. Laryngoscope, 134:3143-3145, 2024.

Radiation-induced Sarcoma of the Prostate After Treatment for Rhabdomyosarcoma.

Rhabdomyosarcoma (RMS) is among the most common pediatric solid malignancies. Fusion-negative, embryonal RMS is the predominant histology among prostate and bladder lesions. Management strategies depend on the clinical stage and risk group. Although the optimal strategy continues to evolve, the field has transitioned from radical upfront resection to organ preservation strategies with multi-modal therapy, including chemotherapy, radiation, and surgery. Survivors frequently develop late complications, including impaired fertility and sexual function, bladder dysfunction, and secondary malignancies. Our case describes an 11-year-old male who developed a radiation-induced prostatic sarcoma. We present a novel surgical technique and highlight the importance of multidisciplinary care.

Primary hyperparathyroidism and sarcoma: A case report and literature review.

ABSTRACT: The relationship between primary hyperparathyroidism (PHPT) and bone sarcoma is debatable, especially after wider use of teriparatide treatment, concerns have intensified on the issue. Extensive search in English literature revealed 10 cases reported having PHPT and sarcomas. Besides, three cases of bone sarcoma occurring after teriparatide treatment had been reported. Hereby, we report a 51-year-old woman with a prolonged history of PHPT. She was diagnosed with chondrosarcoma 9 years after refusal and lack of treatment for PHPT. She was cured surgically for both chondrosarcoma and parathyroid adenoma at 1-year interval. So far, large cohorts did not show an increase in the incidence of bone sarcomas in PHPT. Several case observations, including the current one, as well as data from in vitro and rat studies, pointed out prolonged parathormone exposure, may be a risk for bone sarcomas. Under these circumstances, a safer attitude on individual basis would be the prevention of prolonged parathormone exposures.

Pleomorphic undifferentiated soft tissue sarcoma in patient with long standing inflammatory bowel disease

Inflammatory bowel disease (IBD) has been associated with the development of both gastrointestinal and extraintestinal malignancy. The role of therapy in the development of malignancy in IBD has been controversial. We present the case of a 40-year-old female patient with long-standing mild IBD, who developed an undifferentiated pleomorphic sarcoma of the inguinal region and provide a brief review of the relevant literature. While our case likely represents a coincidence of two unrelated pathological entities, clinicians should keep in mind the possibility of soft tissue sarcomas in patients chronically treated with anti-inflammatory agents.

Osteosarcoma primario de mama en una paciente con antecedentes de tratamiento radioterápico loco-regional por carcinoma in situ mamario / Primary breast osteosarcoma in a patient with a history of locoregional radiotherapy treatment for breast carcinoma in situ

RESUMEN El cáncer de mama es el tumor más prevalente a nivel mundial entre las mujeres. A pesar de que la supervivencia global alcanza cifras cercanas al 90%, sigue suponiendo un importante problema sanitario y económico para la población. Los sarcomas primarios de mama suponen menos del 1% de estas neoplasias, pero sus tasas de recidiva y mortalidad son elevadas. Dado que no existen pruebas de imagen específicas para el diagnóstico, la confirmación de dicha entidad supone un reto a nivel histopatológico. El tratamiento del osteosarcoma de mama es principalmente quirúrgico, con la extirpación de la tumoración con márgenes adecuados, que será trascendental para el pronóstico de las pacientes. No se ha demostrado que sea necesaria una disección axilar, ni un tratamiento adyuvante estándar de quimioterapia ni radioterapia, salvo casos indicados. Presentamos el caso de una paciente postmenopaúsica que tras haber desarrollado un carcinoma ductal in situ de mama tratado de forma satisfactoria, desarrolla dos años posterior a la finalización del tratamiento radioterápico, y en la misma localización del tumor inicial, un osteosarcoma primario de mama de rápido crecimiento atribuible al efecto de la radioterapia administrada.

ABSTRACT Breast cancer is the most prevalent tumor worldwide among women. Despite the fact that overall survival reaches figures close to 90%, it continues to be an important health and economic problem for the population. Primary breast sarcomas account for less than 1% of these neoplasms but their rates of recurrence and mortality are high. Given that there are no specific imaging tests for diagnosis, confirmation of this entity is a challenge at the histopathological level. The treatment of the OSM is mainly surgical with the removal of the tumor with adequate margins, which will be transcendental for the prognosis of the patients. It has not been demonstrated that an axillary dissection is required, nor a standard adjuvant treatment of chemotherapy or radiotherapy, unless indicated. We present the case of a postmenopausal patient who, after having developed a ductal carcinoma in situ of the breast (DCIS) successfully treated, developed two years after the end of the radiotherapy treatment, and in the same location of the initial tumor, an osteosarcoma primary breast of rapid growth attributable to the effect of radiotherapy administered.

Sarcoma miofibroblástico posradioterapia / Radiation-induced myofibroblastic sarcoma

Paciente de 51 años, varón, fumador y alcohólico moderado, con síntomas de disfonía intermitente que debuta con una adenopatía cervical metastásica de carcinoma epidermoide, sin hallazgos del tumor primario. Es intervenido quirúrgicamente siéndole realizada una disección cervical unilateral y posteriormente es tratado con quimiorradioterapia concomitante. A los 4 años del final del tratamiento oncológico, sin recidiva local ni aparición del tumor primario, el paciente debuta con disnea de presentación subaguda. Tras la exploración física y pruebas diagnósticas, se constata una nueva tumoración en laringe que resulta ser un "sarcoma miofibroblástico de bajo grado". Según los criterios de Cahan, este tumor, de estirpe histológica poco frecuente en laringe, hace pensar que probablemente podría ser inducido por la radiación. Se discuten los criterios de causalidad entre radiación y oncogenesis y se resumen las características de los tumores radioinducidos.

We report a clinical case about a male patient, smoker and alcoholic, that debuts with a neck metastasis of an epidermoid carcinoma of unknown origin. He was submitted to a cervical dissection and treated with adjuvant combined chemo and radio therapy. Four years after finishing the oncologic treatment without tumor recurrence or appearence of the primary tumor, he begins with sub acute dyspnea. After physical examination and imaging, a new larynx tumor was found, "low grade myofibroblastic sarcoma". Under Cahan criteria, this tumoral kind, rare in larynx, was probably induced by the local radiotherapy. We discuss briefly the causality between radiation and oncogenesis and the characteristics of the radio induced tumors.

Sarcoma indiferenciado primário no sistema nervoso central / Primary undifferentiated sarcoma of the central nervous system

INTRODUÇÃO: O sarcoma de sistema nervoso central (SNC) é uma neoplasia rara, com incidência de 0,1% a 4,3% dos tumores intracranianos. São tumores agressivos com prognóstico reservado e a maioria é tratada com ressecção radical. RELATO: Homem, 29 anos, com episódios de crises convulsivas e diagnóstico de hemorragia intraparenquimatosa. Durante a cirurgia, foi identificada lesão bem delimitada. A histologia demonstrou neoplasia fusocelular com atipias e numerosas mitoses. Os únicos marcadores imuno-histoquímicos positivos foram vimentina e S-100. O diagnóstico foi de sarcoma indiferenciado de alto grau. CONCLUSÃO: No diagnóstico diferencial de sarcomas de SNC, devem-se excluir lesões metastáticas e gliossarcoma.

INTRODUCTION: The central nervous system (CNS) sarcoma is a rare neoplasm with an incidence of 0.1% to 4.3% in intracranial tumors. They are aggressive with poor prognosis, and mostly treated with radical resection. REPORT: 29 year-old male patient with episodes of seizures and diagnosed with intraparenchymal hemorrhage. During the surgery a well-defined lesion was identified. Histology showed a spindle cell neoplasm with atypia and numerous mitoses. The immunohistochemical markers were positive only for vimentin and S-100. The diagnosis was high-grade undifferentiated sarcoma. CONCLUSION: Metastatic lesions and gliosarcoma should be excluded in the differential diagnosis of CNS sarcomas.

Sarcomas de partes moles no adulto / Soft tissue sarcomas in adult patients

Os autores apresentam uma revisäo sobre sarcomas de partes moles (SPM), mostrando que säo tumores raros, com etiologia e epidemiologia pouco conhecidas, apesar de recentes avanços no campo da genética e biologia molecular. O diagnóstico dos SPM é de fácil realizaçäo por sua localizaçäo preferencial em membros, tronco, cabeça e pescoço, porém, muitas vezes seu tratamento é retardado por falta de um encaminhamento correto e rápido do paciente. Quanto ao estadiamento, além do tamanho do tumor (T), comprometimento linfonodal (N) e metástases (M), o grau de diferenciaçäo (G) tem fundamental importância. Quanto ao tratamento, até a década de 70, a cirurgia era a única arma disponível, mas, nos últimos anos, como na oncologia de um modo geral, a abordagem multidisciplinar através da associaçäo da radioterapia e quimioterapia, os resultados de tratamento com controle local e preservaçäo do membro tornaram-se animadores. Porém, o controle sistêmico da doença ainda é um desafio para o oncologista

Histiocitoma fibroso maligno angiomatoide retroperitoneal: relato de caso / Retroperitoneal angiomated malignant fibrous histiocytoma: a case report

Apresenta-se o caso de uma paciente de sessenta anos com um volumoso histiocitoma fibroso maligno angiomatoide retroperitoneal. A presenca de massa abdominal palpavel era a unica queixa da paciente, que foi submetida a tratamento cirurgico. Discutem-se as caracteristicas histologicas, clinicas e biologicas, bem como o manejo e o prognostico deste tipo de neoplasia

Melanoma maligno de partes blandas (MMPB) (sarcoma de células claras de tendones y aponeurosis) / Malignant melanoma of soft parts (clear-cell sarcoma of tendons and aponeuroses)

Se reporta 11 casos de melanoma maligno de partes blandas (sarcoma de células claras) diagnosticados entre 1980 y 1992 en el Instituto Nacional de Enfermedades Neoplásicas (INEN). La edad de los pacientes estuvo entre 15 y 52 años. Predominó el sexo masculino (7 de 11 casos). La localización en todos los casos fue en la extremidad inferior y de preferencia en el pie (6 de 11 casos). La forma de presentación tumor en todos los casos y dolor en el 55 por ciento. El diagnóstico se hizo en base a los criterios de Enzinger en preparaciones de hematoxilina-eosina y se hizo tinciones especiales para anticuerpo melanoma específico (HMB-45) y proteína S-100. Siete pacientes tuvieron algún tratamiento previo. En el INEN el tratamiento fue amputación en 7 casos, resección local amplia en 2 casos, quimioterapia en un caso y ningún tratamiento adicional en un caso. Nueve pacientes fallecieron entre 2 y 49 meses, uno está vivo a los 24 meses y uno se perdió de vista. Se concluye que melanoma maligno de partes blandas tiene una baja incidencia, se presenta como tumor de crecimiento lento de localización preferente en extremidades inferiores, un número importante de casos se presenta con metástasis (6/11) al momento del diagnóstico, el tratamiento debería ser cirugía radical, por la frecuencia de recurrencias y considerar la disección ganglionar regional por la alta posibilidad de metástasis ganglionar. La mortalidad es alta.

Sarcoma de tejidos blandos inducido por radiación: presentación de un caso y revisión de la literatura / Sarcoma of muscles softs induced by radiation: report of a case and review of the literature

Se presenta la historia clínica de una paciente de 57 años de edad en quien se diagnosticó cáncer de mama a la edad de 40 años y recibió terapia de radiación después de la cirugía. Como presentó recurrencias después del tratamiento se le prescribió terapia citotóxica sistémica. Dieciocho años después del diagnóstico de tumor en la mama presentó otro tipo de tumor primario, de diferente tipo histológico, el cual tuvo un curso extremadamente agresivo y fatal