RESUMO
ABSTRACT: Superficial anaplastic lymphoma kinase (ALK)-rearranged myxoid spindle cell neoplasm (SAMS) is a recently described entity which coexpresses ALK, CD34, and commonly S100. These neoplasms are characterized morphologically by concentric spindle cell whorls and cords and are commonly set in an abundant myxoid to myxocollagenous stroma, thus mimicking perineurioma or hybrid nerve sheath tumor. EMA immunostain has been reported to be negative in SAMS which helps in excluding the latter entities. Herein, we report the first EMA-positive SAMS of the right leg in a 37-year-old female patient masquerading as perineurioma/hybrid nerve sheath tumor. The tumor morphologically was comprised of spindle cells arranged in loose whorls and short fascicles set in myxoid to collagenous stroma and coexpressed CD34 and EMA, reminiscent of perineurioma. S100 showed focal staining. ALK immunostain was subsequently performed and was positive. ALK gene rearrangement was identified by fluorescence in situ hybridization break-apart assay and was further confirmed by next-generation sequencing-based RNA sequencing demonstrating FLNA::ALK fusion, thus supporting the diagnosis of SAMS. In conclusion, EMA can be expressed in SAMS, thus posing as a diagnostic pitfall. ALK immunostain and molecular studies are essential for confirming the diagnosis of SAMS and excluding potential mimickers, particularly perineurioma or hybrid nerve sheath tumor.
Assuntos
Quinase do Linfoma Anaplásico , Biomarcadores Tumorais , Rearranjo Gênico , Neoplasias de Bainha Neural , Humanos , Feminino , Quinase do Linfoma Anaplásico/genética , Adulto , Neoplasias de Bainha Neural/genética , Neoplasias de Bainha Neural/patologia , Neoplasias de Bainha Neural/diagnóstico , Diagnóstico Diferencial , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/análise , Mucina-1/análise , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/diagnóstico , Imuno-HistoquímicaRESUMO
OBJECTIVE: Elastofibroma dorsi (ED) is a rare benign tumor located in the subscapular region. The aim of this study was to evaluate our clinical findings, surgical approach, and management of ED patients based on single-center data with the relevant literature. METHODOLOGY: A retrospective evaluation was conducted on 20 patients who were operated on for ED. RESULTS: Of the 16 (80%) female patients and 4 (20%) male patients, the main complaint was swelling (80%), and 10 cases (50%) had unilateral involvement. All patients were operated on using standard surgical procedures. Despite a long follow-up period (6-53 months, mean of 26.6 months), no recurrences were observed. Two patients (10%) required simple needle aspiration due to post-operative seroma, and one patient, due to infection, required evacuation (5%). CONCLUSION: Although rare, ED should not be overlooked in patients with swelling in the back region. Our data suggests that surgery can be safely performed in such patients after a clinical and radiological diagnosis of ED has been established.
OBJETIVO: Evaluar los hallazgos clínicos, el enfoque quirúrgico y el manejo de los pacientes con urgencias a partir de los datos de un solo centro y la literatura relevante. MÉTODO: Se realizó una evaluación retrospectiva de 20 pacientes que fueron operados de ED. RESULTADOS: En los 16 (80%), pacientes del sexo femenino y cuatro (20%) del sexo masculino, la queja principal fue la tumefacción (80%) y 10 casos (50%) tuvieron afectación unilateral. Todos los pacientes fueron operados utilizando procedimientos quirúrgicos estándar. Con un largo periodo de seguimiento (6-53 meses, media de 26.6 meses), no se observaron recurrencias. Dos pacientes (10%) requirieron aspiración con aguja simple por seroma posoperatorio y un paciente (5%) requirió evacuación por infección. CONCLUSIONES: Aunque es raro, el ED no debe pasarse por alto en pacientes con hinchazón en la región de la espalda. Nuestros datos sugieren que la cirugía se puede realizar de manera segura en estos pacientes después de haber establecido el diagnóstico clínico y radiológico de ED.
Assuntos
Fibroma , Neoplasias de Tecidos Moles , Humanos , Masculino , Feminino , Estudos Retrospectivos , Fibroma/cirurgia , Fibroma/diagnóstico por imagem , Fibroma/patologia , Pessoa de Meia-Idade , Adulto , Idoso , Neoplasias de Tecidos Moles/cirurgia , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/diagnóstico por imagem , Complicações Pós-Operatórias/etiologia , Seroma/etiologiaRESUMO
HMGA2::NCOR2 keratin-positive giant cell tumors in children with response to imatinib in an infant.
Assuntos
Proteína HMGA2 , Mesilato de Imatinib , Neoplasias de Tecidos Moles , Feminino , Humanos , Lactente , Masculino , Antineoplásicos/uso terapêutico , Neoplasias Ósseas/tratamento farmacológico , Tumor de Células Gigantes do Osso/tratamento farmacológico , Tumor de Células Gigantes do Osso/genética , Proteína HMGA2/genética , Mesilato de Imatinib/uso terapêutico , Queratinas , Neoplasias de Tecidos Moles/tratamento farmacológico , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/genéticaRESUMO
BACKGROUND: Radiation-associated soft tissue sarcomas (RA-STS) are rare complications of patients receiving radiation therapy (RT) and are generally associated with a poor prognosis. Most of the literature surrounding RA-STS of the chest is centered on angiosarcoma. Therefore, we aim to document the management and outcome of patients with non-angiosarcoma RA-STS of the chest. METHODS: We reviewed 17 patients (all female, median age 65 years) diagnosed with RA-STS. The most common primary malignancy was breast carcinoma (n = 15), with a median RT dose of 57.9 Gy. All patients underwent surgical resection; five patients (29%) received radiotherapy; and five patients (29%) received peri-operative chemotherapy. RESULTS: The 5-year local recurrence and metastatic-free survival were 61% and 60%, while the 5-year disease-specific survival was 53%. Local recurrence was associated with death due to disease (HR 9.06, p = 0.01). Complications occurred in nine of patients, most commonly due to a wound complication (n = 7). At the most recent follow-up, the median Musculoskeletal Tumor Society Score was 63%. CONCLUSION: RA-STS involving the chest wall are aggressive tumors with a high risk of local relapse and death due to disease. Local recurrence was associated with death due to disease; as such, we recommend aggressive surgical management with evaluation for adjuvant therapies.
Assuntos
Recidiva Local de Neoplasia , Sarcoma , Humanos , Feminino , Idoso , Pessoa de Meia-Idade , Sarcoma/radioterapia , Sarcoma/patologia , Sarcoma/mortalidade , Sarcoma/terapia , Sarcoma/cirurgia , Recidiva Local de Neoplasia/patologia , Neoplasias Induzidas por Radiação/patologia , Neoplasias Induzidas por Radiação/mortalidade , Neoplasias Induzidas por Radiação/etiologia , Neoplasias Induzidas por Radiação/cirurgia , Idoso de 80 Anos ou mais , Estudos Retrospectivos , Adulto , Neoplasias Torácicas/radioterapia , Neoplasias Torácicas/patologia , Neoplasias Torácicas/mortalidade , Parede Torácica/patologia , Parede Torácica/efeitos da radiação , Seguimentos , Neoplasias de Tecidos Moles/radioterapia , Neoplasias de Tecidos Moles/mortalidade , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/terapia , Neoplasias de Tecidos Moles/cirurgia , Neoplasias da Mama/patologia , Neoplasias da Mama/radioterapia , Neoplasias da Mama/mortalidade , Neoplasias da Mama/terapiaRESUMO
Spinocellular carcinoma is a tumor lesion that frequently occurs in photo-exposed areas, presenting characteristics such as keratinization, scaly areas and even ulcerations. Its potential for metastasis makes early identification and diagnosis essential in order to carry out correct treatment of said lesion. In the spectrum of spinocelullar carcinomas is Keratoacanthoma, which has been in debate about its origin and its benignity. We present the clinical evolution, treatment, results, and bibliographic review of a keratoacanthoma.
El carcinoma espinocelular es una lesión tumoral que se da frecuentemente en zonas foto-expuestas, presentando características tales como queratinización, zonas descamativas e incluso ulceraciones. Su potencial de metástasis hace imprescindible la identificación y diagnóstico precoz para poder realizar un correcto tratamiento de dicha lesión. Dentro de su espectro se encuentra el Queratoacantoma, el cual ha estado en debate sobre su origen y su benignidad. Nosotros presentamos la evolución clínica, tratamiento, resultados y revisión bibliográfica de un queratoacantoma.
Assuntos
Humanos , Feminino , Idoso de 80 Anos ou mais , Neoplasias de Tecidos Moles/cirurgia , Neoplasias de Tecidos Moles/diagnóstico por imagem , Ceratoacantoma , Tumor de Células Granulares/cirurgia , Tumor de Células Granulares/diagnóstico por imagemRESUMO
Introduction: Soft tissue sarcomas (STS) are low-incidence tumors whose clinical and histopathological factors are associated with adverse oncological outcomes. This study evaluated prognostic factors (PF) associated with tumor recurrence and overall survival (OS) in patients diagnosed with STS of the extremities, treated at the Instituto Nacional de Cancerología (INC), Bogotá, Colombia. Materials and Methods: An analytical observational study of a historical cohort was carried out, including patients diagnosed with STS and managed surgically in the Functional Unit for Breast and Soft Tissue Tumors of the INC from January 2008 to December 2018. Results: A total of 227 patients were included; 74.5% had tumors greater than 5 cm. Most patients (29.1%) were in stage IIIB at diagnosis. Age was associated with higher mortality (HR = 1.01; CI95%: 1-1.02; p = 0.048). Tumor persistence at admission to the INC (HR = 2.34; CI95%: 1.25-4.35; p = 0.007) and histologic grade III (HR = 5.36; CI95%: 2.29-12.56; p = <0.001) showed statistical significance in the multivariate analysis for recurrence of any type, as did the PFs associated with a higher risk of local recurrence (HR = 2.85; CI95%: 1.23-6.57; p = 0.014 and HR = 6.09; CI95%: 2.03-18.2; p = 0.001), respectively. Tumor size (HR = 1.03; CI95%: 1-1.06; p = 0.015) and histologic grade III (HR = 4.53; CI95%: 1.42-14.49; p = 0.011) were associated with a higher risk of distant recurrence. Conclusions: This cohort showed that in addition to histologic grade and tumor size, tumor persistence at the time of admission has an impact on disease recurrence, so STS should be managed by a multidisciplinary team with experience in this pathology in high-volume reference centers.
Assuntos
Extremidades , Recidiva Local de Neoplasia , Sarcoma , Humanos , Feminino , Masculino , Sarcoma/mortalidade , Colômbia/epidemiologia , Pessoa de Meia-Idade , Extremidades/patologia , Prognóstico , Adulto , Idoso , Neoplasias de Tecidos Moles/mortalidade , Neoplasias de Tecidos Moles/patologia , Idoso de 80 Anos ou maisRESUMO
A 56-year-old woman debuted with a palpable painless mass in the anterior thorax wall at the level of the second and third right parasternal intercostal space, which progressively increased in size over 5 months accompanied by localized skin rash, mild dyspnea and chest pain when changing position. Imaging studies showed a soft tissue mass measuring 75 × 62 mm and a density of 34 Hounsfield Units that had caused the lysis of the costal arches and grew expansively towards the anterior mediastinum, without identifying mediastinal adenopathies only by this imaging method. Core biopsy was performed, which was initially diagnosed as histiocytic sarcoma (HS); however, when the diagnostic panel was expanded to include molecular and NGS studies, the final diagnosis was anaplastic large cell lymphoma with ALK::ATIC fusion. Here, we report a very rare neoplasm with unusual clinical presentation, histopathology and molecular features.
Assuntos
Sarcoma Histiocítico , Linfoma Anaplásico de Células Grandes , Humanos , Feminino , Pessoa de Meia-Idade , Sarcoma Histiocítico/patologia , Sarcoma Histiocítico/genética , Linfoma Anaplásico de Células Grandes/genética , Linfoma Anaplásico de Células Grandes/patologia , Linfoma Anaplásico de Células Grandes/diagnóstico , Quinase do Linfoma Anaplásico/genética , Diagnóstico Diferencial , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Neoplasias Torácicas/patologia , Neoplasias Torácicas/genéticaRESUMO
BACKGROUND: Wide excision of soft tissue tumors or infections often results in large defects that can be challenging to manage. Advanced treatment modalities-including NPWT, skin grafts, and xenografts-can all be considered for post-resection wound management, but each has its limitations. An SHSFM, engineered to resemble human extracellular matrix, has demonstrated positive wound healing outcomes in prior studies. MATERIALS AND METHODS: Adult patients at a single institution who underwent resection of soft tissue tumor or infected tissue followed by treatment with SHSFM from 2020-2023 were retrospectively reviewed. RESULTS: Ten patients were included in the review after meeting the inclusion criteria. Overall, 7 of 10 wounds had documented complete closure, with 3 lost to follow-up. Average time to wound closure was 119 days. Patients either healed via secondary intention or were bridged to a split-thickness skin graft. The average VSS score was 3.3 when assessed. CONCLUSION: The current case series demonstrated that the SHSFM can support granulation tissue formation over exposed structures as a bridge to skin graft or can completely reepithelialize large wounds without skin grafting. The SHSFM offers a novel treatment option for post-resection surgical wounds.