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Acral fibrochondromyxoid tumor (AFCMT) is a recently described likely benign mesenchymal neoplasm arising in the distal extremities with distinctive histologic features and a recurrent THBS1::ADGRF5 fusion. We studied an additional 37 cases of AFCMT and expanded on the so-far reported clinicopathologic and molecular findings. Tumors occurred in 21 females and 16 males, ranging in age from 17-78 years (median age: 47), and solely involved the hands (24/37, 65%) or feet (13/37, 35%). Histologic examination revealed well-delineated uni- or multinodular tumors with prominent vasculature-rich septa and bland, chondrocyte-like tumor cells set within abundant chondromyxoid stroma. Immunohistochemical studies showed tumor cells were positive for CD34 (25/27; 93%) and ERG (27/27; 100%), while negative for S100 protein (0/31). Molecular analysis revealed evidence of a THBS1::ADGRF5 fusion in 17 of 19 (89%) successfully tested tumors. Clinical follow-up was available in 8 cases (median: 97 months), with multiple local recurrences in 1 case at 276, 312, and 360 months. We conclude that AFCMT is a distinct entity with reproducible morphologic, immunohistochemical, and molecular genetic features that should be differentiated from other similar appearing acral mesenchymal neoplasms.
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Neoplasias de las Glándulas Suprarrenales , Hemangioma , Humanos , Neoplasias de las Glándulas Suprarrenales/patología , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/cirugía , Neoplasias de las Glándulas Suprarrenales/diagnóstico por imagen , Hemangioma/patología , Hemangioma/diagnóstico , Hemangioma/cirugía , Femenino , Masculino , Glándulas Suprarrenales/patología , Glándulas Suprarrenales/diagnóstico por imagen , Persona de Mediana EdadRESUMEN
Se han evidenciado beneficios importantes cuando se realiza actividad física de intensidad moderada luego del diagnóstico de cáncer de mama. Las intervenciones deben comenzar antes, durante y después de la intervención quirúrgica. Se recomienda tener en cuenta: el estadio de la enfermedad, el tipo de cáncer, la condición física, la posibilidad de reducir el volumen o la intensidad de ejercicio; de no ser así se deberá empezar de forma progresiva aumentando poco a poco la intensidad y la duración de la actividad física. La actividad física ejercida de forma regular y con cierta intensidad reduce el riesgo de recidiva tumoral y la mortalidad por cáncer de mama; aumenta la calidad de vida, disminuye los efectos tóxicos de los tratamientos, por lo tanto, mejora el pronóstico de la enfermedad.
Important benefits have been shown when performing moderate-intensity physical activity after the diagnosis of breast cancer. Interventions must begin before, during and after the surgical intervention. It is recommended to take into account: the stage of the disease, the type of cancer, the physical condition, the possibility of reducing the volume or intensity of exercise; if not, you should start progressively, gradually increasing the intensity and duration of physical activity. Physical activity exercised regularly and with a certain intensity reduces the risk of tumor recurrence and mortality from breast cancer; it increases the quality of life, reduces the toxic effects of treatments, therefore, improves the prognosis of the disease.
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It is now understood that identical gene fusions may be shared by different entities. We report a distinctive neoplasm of the skin and subcutis, harboring the Ewing sarcoma-associated EWSR1::FLI1 fusion but differing otherwise from Ewing sarcoma. Slides and blocks for 5 cutaneous neoplasms coded as other than Ewing sarcoma and harboring EWSR1::FLI1 were retrieved. Immunohistochemical and molecular genetic results were abstracted from reports. Methylation profiling was performed. Clinical information was obtained. The tumors occurred in 4 men and 1 woman (median: 25 years of age; range: 19-69 years) and involved the skin/subcutis of the back (2), thigh, buttock, and chest wall (median: 2.4 cm; range: 1-11 cm). Two tumors were present "years" before coming to clinical attention. The lesions were multinodular and circumscribed and consisted of nests of bland, round cells admixed with hyalinized collagenous bands containing spindled cells. Hemorrhage and cystic change were often present; necrosis was absent. All were diffusely S100 protein/SOX10-positive; 4 of 5 were CD99-negative. One tested case was strongly positive for NKX2.2. A variety of other tested markers were either focally positive (glial fibrillary acidic protein, p63) or negative. Molecular genetic results were as follows: EWSR1 exon 7::FLI1 exon 8, EWSR1 exon 11::FLI1 exon 5, EWSR1 exon 11::FLI1 exon 6, EWSR1 exon 7::FLI1 exon 6, and EWSR1 exon 10::FLI1 exon 6. Methylation profiling (3 cases) showed these to form a unique cluster, distinct from Ewing sarcoma. All patients underwent excision with negative margins; one received 1 cycle of chemotherapy. Clinical follow-up showed all patients to be alive without disease (median: 17 months; range: 11-62 months). Despite similar gene fusions, the morphologic, immunohistochemical, epigenetic, and clinical features of these unique EWSR1::FLI1-fused neoplasms of the skin and subcutis differ substantially from Ewing sarcoma. Interestingly, EWSR1 rearrangements involved exons 10 or 11, only rarely seen in Ewing sarcoma, in a majority of cases. Superficial neurocristic EWSR1::FLI1 fusion tumors should be rigorously distinguished from true cutaneous Ewing sarcomas.
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Biomarcadores de Tumor , Proteína Homeobox Nkx-2.2 , Proteínas de Fusión Oncogénica , Proteínas S100 , Factores de Transcripción SOXE , Neoplasias Cutáneas , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Biomarcadores de Tumor/genética , Metilación de ADN , Proteínas de Homeodominio , Inmunohistoquímica , Proteínas Nucleares , Proteínas de Fusión Oncogénica/genética , Proteína Proto-Oncogénica c-fli-1/genética , Proteína EWS de Unión a ARN/genética , Proteínas de Unión al ARN/genética , Proteínas S100/genética , Proteínas S100/metabolismo , Sarcoma de Ewing/genética , Sarcoma de Ewing/patología , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Factores de Transcripción SOXE/genética , Factores de Transcripción/genéticaRESUMEN
Primary pulmonary myxoid sarcoma (PPMS) and thoracic angiomatoid fibrous histiocytoma (AFH) are rare neoplasms with EWSR1 fusions and overlapping morphology. Both tumor types often show epithelial membrane antigen expression, but AFH characteristically co-expresses desmin. We encountered a case of PPMS with the unexpected finding of patchy, strong anaplastic lymphoma kinase (ALK) (previously reported in AFH) and synaptophysin expression. We evaluated a cohort of PPMS and thoracic AFH with systematic morphologic comparison and surveyed for aberrant expression of ALK and synaptophysin. Medical records and slides were reviewed for 16 molecularly confirmed cases of PPMS (n=5) and thoracic AFH (n=11). Each case was scored for morphologic characteristics typical of PPMS and/or AFH. ALK, synaptophysin, chromogranin, desmin, and epithelial membrane antigen immunostains were performed on cases with available tissue. AFH and PPMS cases showed similar age at presentation and long-term tumor behavior. Almost all cases of PPMS and AFH had a fibrous pseudocapsule and lymphoid rim. All PPMS had myxoid stroma and reticular growth pattern, but these features were also present in a subset of AFH. Synaptophysin expression was present in 6 of 11 AFH and 1 of 5 PPMS; all tested cases were negative for chromogranin (n=15). One case of AFH and 1 case of PPMS showed focally strong coexpression of synaptophysin and ALK. AFH and PPMS show considerable clinicopathologic overlap. When supportive, the immunohistochemical findings described may aid in diagnosis before molecular confirmation. PPMS and AFH may be morphologic variants of the same clinicopathologic entity, which can show more immunophenotypic variability than previously reported.
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Histiocitoma Fibroso Benigno , Histiocitoma Fibroso Maligno , Humanos , Sinaptofisina , Mucina-1 , Desmina , Cromograninas , Histiocitoma Fibroso Maligno/genética , Histiocitoma Fibroso Maligno/cirugía , Histiocitoma Fibroso Maligno/diagnóstico , Proteínas Tirosina Quinasas ReceptorasRESUMEN
STUDY OBJECTIVES: While heart failure with preserved ejection fraction (HFpEF) is associated with the presence of obstructive sleep apnea (OSA), few studies have examined the association between scoring systems used to predict HFpEF risk, such as the H2FPEF and HFA-PEFF scores, and OSA prevalence and severity. METHODS: We performed chart review on all patients who underwent both an echocardiogram and sleep study at the University of Pennsylvania between July 1, 2020, and June 30, 2022. There were 277 patients in the final cohort after excluding patients with relevant comorbidities. Associations between echocardiographic parameters and OSA severity, as well as between H2FPEF score and OSA severity, were examined using linear tests of trend. The association between H2FPEF score and prevalent OSA was examined with logistic regression. RESULTS: OSA severity was associated with echocardiographic markers, including left atrial volume index (P = .03) and left ventricular relative thickness (P = .008). Patients with high H2FPEF risk scores had over 17-fold higher odds of prevalent OSA compared with those with low-risk scores (17.7; 95% CI 4.3, 120.7; P < .001). Higher H2FPEF scores were strongly correlated with OSA severity (P < .001). After controlling for body mass index, H2FPEF scores were not associated with prevalence or severity of OSA. CONCLUSIONS: In an ambulatory population referred for sleep study and echocardiogram, markers of diastolic dysfunction were associated with OSA severity. OSA prevalence and severity were associated with increased H2FPEF scores, although these associations were largely explained by obesity. Clinicians should have low thresholds for referring patients with OSA for cardiac workup and patients with HFpEF for sleep study. CITATION: Connolly JE, Genuardi MV, Mora JI, Prenner SB. Heart failure with preserved ejection fraction risk is associated with prevalence and severity of obstructive sleep apnea. J Clin Sleep Med. 2024;20(3):381-387.
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Insuficiencia Cardíaca , Apnea Obstructiva del Sueño , Humanos , Insuficiencia Cardíaca/complicaciones , Insuficiencia Cardíaca/epidemiología , Prevalencia , Volumen Sistólico , Corazón , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/epidemiologíaRESUMEN
Soft tissue sarcomas harboring EWSR1::PATZ1 are a recently recognized entity with variable morphology and a heterogeneous immunohistochemical profile. We studied 17 such tumors. The tumors occurred in 12 men and 5 women (median age, 50 years; range, 15-71 years), involved the thoracoabdominal soft tissues (14 cases; 82%), lower extremities (2 cases; 12%), and tongue (1 case; 6%), and ranged from 0.7 to 11.3 cm (median, 4.7 cm). All but 1 patient received complete surgical resection; 7 were also treated with neoadjuvant chemo/radiotherapy. All cases showed typical features of EWSR1::PATZ1 sarcoma, including uniform round to spindled cells, fibromyxoid matrix, fibrous bands, hyalinized vessels, and pseudoalveolar/microcystic spaces. Unusual features, seen in a subset of cases, included degenerative-appearing nuclear atypia, epithelioid cytomorphology, mature fat, abundant rhabdomyoblasts, high mitotic activity, and foci with increased cellularity and nuclear atypia. Positive immunohistochemical results were desmin (16/17, 94%), MyoD1 (13/14, 93%), myogenin (6/14, 43%), GFAP (10/10, 100%), S100 protein (15/17, 88%), SOX10 (7/13, 54%), keratin (10/17, 59%), CD99 (4/11, 36%), H3K27me3 (retained expression 9/9, 100%), p16 (absent expression 1/4, 25%), and p53 (wild type 3/3, 100%). Fusion events included EWSR1 exon 8::PATZ1 exon 1 (14/17, 82%), EWSR1 exon 9::PATZ1 exon 1 (2/17, 12%), and EWSR1 exon 7::PATZ1 exon 1 (1/17, 6%). No evaluated tumor had alterations of CDKN2A/B and/or TP53, or MDM2 amplification. Clinical follow-up (16 patients: median, 13.5 months; range, 1-77 months) showed distant metastases in 3 patients (1/3 at time of presentation) and no local recurrences. At the time of last follow-up, 14 patients were disease free, 1 was alive with disease, 1 was dead of disease (at 13 months), and 1 had an indeterminant pulmonary nodule. We conclude that the morphologic spectrum of EWSR1::PATZ1 is broader than has been previously appreciated. Although more long-term follow-up is needed, the prognosis of these very rare sarcomas may be more favorable than previously reported.
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Sarcoma , Neoplasias de los Tejidos Blandos , Masculino , Humanos , Femenino , Persona de Mediana Edad , Sarcoma/genética , Sarcoma/terapia , Sarcoma/patología , Factores de Transcripción , Proteína EWS de Unión a ARN/genética , Proteínas S100 , Neoplasias de los Tejidos Blandos/genética , Neoplasias de los Tejidos Blandos/terapia , Neoplasias de los Tejidos Blandos/patología , Pronóstico , Biomarcadores de Tumor/genética , Proteínas Represoras/genética , Factores de Transcripción de Tipo KruppelRESUMEN
EWSR1::POU2AF3 (COLCA2) sarcomas are a recently identified group of undifferentiated round/spindle cell neoplasms with a predilection for the head and neck region. Herein, we report our experience with 8 cases, occurring in 5 men and 3 women (age range, 37-74 years; median, 60 years). Tumors involved the head/neck (4 cases), and one each the thigh, thoracic wall, fibula, and lung. Seven patients received multimodal therapy; 1 patient was treated only with surgery. Clinical follow-up (8 patients; range, 4-122 months; median, 32 months) showed 5 patients with metastases (often multifocal, with a latency ranging from 7 to 119 months), and 3 of them also with local recurrence. The median local recurrence-free and metastasis-free survival rates were 24 months and 29 months, respectively. Of the 8 patients, 1 died of an unknown cause, 4 were alive with metastatic disease, 1 was alive with unresectable local disease, and 2 were without disease. The tumors were composed of 2 morphologic subgroups: (1) relatively bland tumors consisting of spindled to stellate cells with varying cellularity and fibromyxoid stroma (2 cases) and (2) overtly malignant tumors composed of nests of "neuroendocrine-appearing" round cells surrounded by spindled cells (6 cases). Individual cases in the second group showed glandular, osteogenic, or rhabdomyoblastic differentiation. Immunohistochemical results included CD56 (4/4 cases), GFAP (5/8), SATB2 (4/6), keratin (AE1/AE3) (5/8), and S100 protein (4/7). RNA sequencing identified EWSR1::POU2AF3 gene fusion in all cases. EWSR1 gene rearrangement was confirmed by fluorescence in situ hybridization in 5 cases. Our findings confirm the head/neck predilection and aggressive clinical behavior of EWSR1::POU2AF3 sarcomas and widen the morphologic spectrum of these rare lesions to include relatively bland spindle cell tumors and tumors with divergent differentiation.
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Sarcoma , Neoplasias de los Tejidos Blandos , Masculino , Humanos , Femenino , Adulto , Persona de Mediana Edad , Anciano , Hibridación Fluorescente in Situ , Proteínas de Unión a Calmodulina/genética , Proteínas de Unión al ARN/genética , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Proteína EWS de Unión a ARN/genética , Proteína EWS de Unión a ARN/metabolismo , Sarcoma/genética , Neoplasias de los Tejidos Blandos/genética , Neoplasias de los Tejidos Blandos/terapia , Neoplasias de los Tejidos Blandos/patologíaRESUMEN
Canalis sinuosus, canal intraóseo localizado en región maxilar anterior, contiene elementos vasculonerviosos alveolares anterosuperiores. Diversas intervenciones en región maxilar anterior como colocación de implantes, exodoncias, instalación de microtornillos ortodóncicos, procedimientos quirúrgicos, entre otros, pueden comprometer al Canalis sinuosus y/o sus canales accesorios dañando los elementos contenidos en su interior causando complicaciones como hemorragias, parestesia, disestesia, etc. Dado el gran desconocimiento de su existencia, el Canalis sinuosus frecuentemente es confundido con lesiones patológicas y/o endodónticas. Clásicamente la literatura lo describe como una variación anatómica variación anatómica, sin embargo, presenta elevadas prevalencias (51,7 %-100 %), siendo cuestionada esta aseveración. Determinar prevalencia y característica s anatómicas del Canalis sinuosus mediante Cone Beam CT en pacientes chilenos del centro radiológico IMAPROX® entre 2017- 2021. Análisis retrospectivo de 220 CBCT maxilares anonimizados, considerando variables sexo, presencia del Canalis sinuosus, Canalis sinuosus uni/bilateral, diámetro mayor del Canalis sinuosus, presencia/número de accesorios. Análisis estadístico uni y bivariado. 100 % de prevalencia del Canalis sinuosus en ambos sexos, presencia bilateral 100 %. Diámetro mayor promedio del Canalis sinuosus: 2,58 mm. El 76,8 % presentó accesorios, siendo más prevalente la presencia de 2 CA (34,1 %). Una estructura anatómica normal habitual debe presentar sobre 50 % de prevalencia para ser considerada como tal, pero no hay consensos en criterios empleados para definir variación anatómica o estructura anatómica normal habitual. Literatura describe al Canalis sinuosus como variación anatómica, pero estudios actuales muestran elevadas prevalencias: Rusia 67 %, Brasil 88 %, Turquía, Colombia y Chile 100 %. Este estudio encontró 100 % de prevalencia, sugiriendo que Canalis sinuosus es una estructura anatómica normal habitual. Sin embargo, Canalis sinuosus es poco conocido asociándose a numerosas complicaciones por procedimientos odontológicos y/o quirúrgicos en RMA pudiendo generar hemorragias, parestesia/disestesia, dolor agudo, etc. Elevadas prevalencias reportadas sugieren que Canalis sinuosus es una estructura anatómica normal habitual y no una variación anatómica, pero se requieren más estudios y consensos para aseverarlo. Es de relevancia clínica conocer la existencia y localización del Canalis sinuosus para evitar complicaciones.
Canalis sinuosus, an intraosseous canal located in the anterior maxillary region, contains anterosuperior alveolar vascular-nervous elements. Various interventions in anterior maxillary region such as implant placement, extractions, installation of orthodontic microscrews, surgical procedures, among others, can compromise the Canalis sinuosus and/or its accessory canals, damaging the elements contained inside, causing complications such as bleeding, paresthesia, dysesthesia, etc. Given the great ignorance of its existence, Canalis sinuosus is frequently confused with pathological and/or endodontic lesions. Classically, the literature describes it as an anatomical variation, however, it presents high prevalence (51.7 %-100 %), this assertion being questioned. Objective: to determine the prevalence and anatomical characteristics of Canalis sinuosus using Cone Beam CT in Chilean patients from the IMAPROX® radiological center between 2017-2021. Retrospective analysis of 220 anonymous maxillary CBCT, considering variables sex, presence of Canalis sinuosus, uni/bilateral Canalis sinuosus, largest diameter of Canalis sinuosus, presence/number of accessory canals. Univariate and bivariate statistical analysis. The 100 % prevalence of Canalis sinuosus in both sexes, 100 % bilateral presence. Canalis sinuosus average major diameter: 2.58 mm, 76.8 % presented accessory canals, with the presence of 2 accessory canals being more prevalent (34.1 %). A habitual normal anatomical structure must have a prevalence of over 50 % to be considered as such, but there is no consensus on the criteria used to define anatomical variation or normal anatomical structure. Literature describes Canalis sinuosus as anatomical variation, but current studies show high prevalence: Russia 67 %, Brazil 88 %, Turkey, Colombia and Chile 100 %. This study found 100 % prevalence, suggesting that Canalis sinuosus is an normal anatomical structure. However, Canalis sinuosus is little known as it is associated with numerous complications from dental and/or surgical procedures in anterior maxillary region, which can cause bleeding, paresthesia/ dysesthesia, acute pain, etc. High reported prevalences suggest that Canalis sinuosus is an normal anatomical structure and not an anatomical variation, but more studies and consensus are required to confirm this. It is clinically relevant to know the existence and location of Canalis sinuosus to avoid complications.
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Humanos , Masculino , Femenino , Tomografía Computarizada de Haz Cónico/métodos , Maxilar/anatomía & histología , Chile/epidemiología , Prevalencia , Variación AnatómicaRESUMEN
AIMS: Cutaneous syncytial myoepithelioma (CSM) is a rare myoepithelioma variant of skin, characterized by intradermal syncytial growth of spindle cells with a distinct immunophenotype of EMA and S100 positivity and infrequent keratin expression. While CSM was first described as a cutaneous tumor, singular non-cutaneous cases have since been reported in bone. We aimed to investigate the clinicopathological features of this variant across all anatomic sites through a large multi-institutional study. METHODS AND RESULTS: We complied a total of 24 myoepitheliomas with syncytial growth from our files. The tumors occurred in 12 male and 12 female patients (M:F = 1:1), with a median age of 31 years (range, 9-69 years). While the majority of tumors (75%, n = 18) occurred in skin, a significant subset (25%, n = 6) arose in non-cutaneous sites, including bone (n = 3), bronchus/trachea (n = 2), and interosseous membrane of tibia/fibula (n = 1). Tumor size ranged from 0.4 to 5.9 cm. Clinical follow-up (7 patients; range 14-202 months; median 56.5 months) showed a single local recurrence 8 years after incomplete skin excision but no metastases; all patients were alive at the time of last follow-up without evidence of disease. Histologically, all tumors were pink at low-power and characterized by a syncytial growth of bland ovoid, spindled, or histiocytoid cells with eosinophilic cytoplasm and prominent perivascular lymphoplasmacytic inflammation. One-third displayed adipocytic metaplasia (8/24). Rare cytologic atypia was seen but was not associated with increased mitotic activity. All tumors expressed S100, SMA, and/or EMA. Keratin expression was absent in most cases. Molecular analysis was performed in 16 cases, all showing EWSR1-rearrangments. In total, 15/15 (100%) harbored an EWSR1::PBX3 fusion, whereas 1 case EWSR1 FISH was the only molecular study performed. CONCLUSION: Syncytial myoepithelioma is a rare but recognizable morphologic variant of myoepithelioma which may have a predilection for skin but also occurs in diverse non-cutaneous sites. Our series provides evidence supporting a reappraisal of the term "cutaneous syncytial myoepithelioma," as 25% of patients in our series presented with non-cutaneous tumors; thus, we propose the term "syncytial myoepithelioma" to aid pathologist recognition and avoidance of potentially confusing terminology when referring to non-cutaneous examples. The behavior of syncytial myoepithelioma, whether it arises in cutaneous or non-cutaneous sites, is indolent and perhaps benign with a small capacity for local recurrence.
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Mioepitelioma , Neoplasias Glandulares y Epiteliales , Neoplasias Cutáneas , Humanos , Masculino , Femenino , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Mioepitelioma/patología , Biomarcadores de Tumor/análisis , Neoplasias Cutáneas/patología , QueratinasRESUMEN
Lipoblastoma-like tumor (LLT) is a benign soft tissue tumor demonstrating mixed morphologic features of lipoblastoma, myxoid liposarcoma, and spindle cell lipoma but lacking genetic alterations associated with those tumors. LLT was originally thought to be specific to the vulva but has since been reported in the paratesticular region. The morphologic features of LLT overlap with those of "fibrosarcoma-like lipomatous neoplasm" (FLLN), a rare, indolent adipocytic neoplasm considered by some to form part of the spectrum of atypical spindle cell and pleomorphic lipomatous tumor. We compared the morphologic, immunohistochemical, and genetic features of 23 tumors previously classified as LLT (n = 17) and FLLN (n = 6). The 23 tumors occurred in 13 women and 10 men (mean age, 42 years; range, 17 to 80 years). Eighteen (78%) cases arose in the inguinogenital region, whereas 5 tumors (22%) involved noninguinogenital soft tissue, including the flank (n = 1), shoulder (n = 1), foot (n = 1), forearm (n = 1), and chest wall (n = 1). Microscopically, the tumors were lobulated and septated, with variably collagenized fibromyxoid stroma, prominent thin-walled vessels, scattered univacuolated or bivacuolated lipoblasts, and a minor component of mature adipose tissue. Using immunohistochemistry, 5 tumors (42%) showed complete RB1 loss, with partial loss in 7 cases (58%). RNA sequencing, chromosomal microarray, and DNA next-generation sequencing study results were negative for significant alterations. There were no clinical, morphologic, immunohistochemical, or molecular genetic differences between cases previously classified as LLT or FLLN. Clinical follow-up (11 patients [48%]; range, 2-276 months; mean, 48.2 months) showed all patients were alive without disease, and only one patient had experienced a single local recurrence. We conclude that LLT and FLLN represent the same entity, for which "LLT" seems most appropriate. LLT may occur in either sex and any superficial soft tissue location. Careful morphologic study and appropriate ancillary testing should allow for the distinction of LLT from its potential mimics.
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Fibrosarcoma , Lipoblastoma , Lipoma , Liposarcoma Mixoide , Liposarcoma , Masculino , Adulto , Humanos , Femenino , Lipoblastoma/genética , Biomarcadores de Tumor/genética , Lipoma/genética , Lipoma/patología , Liposarcoma/genética , Biología MolecularRESUMEN
BACKGROUND: Perineuriomas are peripheral nerve sheath tumors that are composed of benign, localized proliferations of perineural cells and further subclassified as intraneural or extraneural (soft tissue) based on their relationship to the histological boundaries of the nerve. Multiple histological variants have been described, and herein the authors present the first known case of a pseudolipoblastic perineurioma affecting the nerve. OBSERVATIONS: A 52-year-old woman presented with a 5-year history of progressive, severe left buttock pain radiating down to the top of her foot and ankle, without any associated weakness, with a large mass in her sciatic nerve noted on magnetic resonance imaging (MRI). She underwent resection, which demonstrated a pseudolipoblastic perineurioma of the sciatic nerve, an unusual histological subtype composed of perineurial cells with an abundant clear intracytoplasmic background. Postoperatively, her pain resolved, and follow-up MRI showed no tumor persistence or recurrence. LESSONS: On imaging, this lesion had a benign appearance, with areas suggestive of subacute hemorrhage, and was associated with a nerve. Although the distinctive morphological features of this lesion may suggest liposarcoma, careful morphological evaluation and appropriate immunohistochemical studies allow its correct classification.
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La detección precoz de la fragilidad y el empleo oportuno de técnicas diagnósticas, terapéuticas y rehabilitadoras pueden modificar positivamente la expresión esperada de la discapacidad en el anciano. Las intervenciones tempranas, que incluyan ejercicio y movilización, ayudan a disminuir la gravedad de complicaciones asociadas y facilitan la recuperación funcional de este grupo etáreo. Los ejercicios de resistencia, flexibilidad, equilibrio y fuerza reducen la incidencia y el riesgo de caídas, la morbilidad y la mortalidad y previenen el deterioro funcional.
Early detection of frailty and the timely use of diagnostic, therapeutic and rehabilitative techniques can positively modify the expected expression of disability in the elderly. Early interventions, which include exercise and mobilization, help reduce the severity of associated complications and facilitate the functional recovery of this age group. Resistance, flexibility, balance and strength exercises reduce the incidence and risk of falls, morbidity and mortality and prevent functional deterioration.
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This case report describes a patient originally diagnosed with obstructive sleep apnea (OSA) who was later found to have central sleep apnea (CSA) during drug-induced sleep endoscopy, which was subsequently confirmed on an in-laboratory sleep study. The revised diagnosis resulted in a change in recommended therapy from hypoglossal nerve stimulation to phrenic nerve stimulation. This case report is a reminder that the sleep surgeon must be cognizant of the possibility of CSA being misclassified as OSA especially as home sleep studies become increasingly routine, and discusses ways to more easily distinguish between CSA and OSA. Laryngoscope, 133:706-708, 2023.
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Obstrucción de las Vías Aéreas , Apnea Central del Sueño , Apnea Obstructiva del Sueño , Humanos , Apnea Obstructiva del Sueño/terapia , Síndrome , Apnea Central del Sueño/diagnóstico , Endoscopía/métodos , Nervio Hipogloso/cirugía , SueñoRESUMEN
BACKGROUND: Schwannomas of the peripheral nerves are benign tumors that can very rarely undergo malignant transformation. These lesions are particularly challenging to diagnose via noninvasive techniques but can have significant implications for treatment. OBSERVATIONS: This is a case of a 70-year-old female with a prior history of a right sciatic notch tumor that was diagnosed as a conventional schwannoma via histology from an initial biopsy and subsequent surgical debulking. Unfortunately, she experienced significant worsening of her motor deficit, whereby her postoperative foot weakness progressed to complete foot drop in less than 2 years. In addition, she demonstrated significant radiological progression, with more than 1 to 2 cm of growth in each dimension at her subsequent evaluation, along with intractable right leg pain. An additional operation was performed to completely remove the 7 × 8 cm tumor, and histology demonstrated angiosarcoma within a schwannoma. There was no evidence of recurrence at 15 months, and the patient had significant improvement in her pain. LESSONS: Rapidly worsening function and radiological progression are not typically seen with conventional benign nerve sheath tumors and should prompt consideration of other lesions. Angiosarcoma within schwannoma is a rare pathology and optimal therapies for these tumors in terms of surgical timing and adjuvant therapy are still unknown.
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BACKGROUND: Central sleep apnea (CSA) is a disorder defined by lack of respiratory drive from the brain stem on breathing efforts. There is a lack of established therapies for CSA and most available therapies are limited by poor patient adherence, limited randomized controlled studies, and potentially adverse cardiovascular effects. The remede System (ZOLL Respicardia, Inc., Minnetonka, Minnesota) uses transvenous phrenic nerve stimulation to stimulate the diaphragm, thereby restoring a more normal breathing pattern throughout the sleep period. METHODS: The remede System Therapy (reST) Study is a prospective non-randomized multicenter international study evaluating long-term safety and effectiveness of the remede System in the post-market setting. Up to 500 adult patients with moderate to severe CSA will be enrolled and followed up to 5 years at approximately 50 sites in the United States and Europe. Safety objectives include evaluation of adverse events related to the implant procedure, device or delivered therapy, death, and hospitalizations. Effectiveness endpoints include assessment of changes in sleep-disordered breathing metrics from polysomnograms and home sleep tests, changes in daytime sleepiness using the Epworth Sleepiness Scale, and changes in QoL using the PROMIS-29 and Patient Global Assessment questionnaires. The subgroup of patients with heart failure will undergo additional assessments including echocardiography to assess cardiac reverse remodeling, 6-min walk distance, QoL assessment by Kansas City Cardiomyopathy Questionnaire and measurement of biomarkers. CONCLUSION: This will be the largest prospective study evaluating long-term safety and effectiveness of transvenous phrenic nerve stimulation for the treatment of moderate to severe CSA in adult patients.