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PURPOSE: Currently there is no generally accepted standardized approach for the pathologic evaluation of soft tissue sarcoma (STS) histology appearance after preoperative radiotherapy (PORT). This study aimed to investigate the prognostic value of pathological appearance after PORT for patients with high-grade limb/trunk STS. METHODS: A cohort of 116 patients with high-grade STS of the limb/trunk treated with PORT followed by resection were evaluated. Patient characteristics, imaging tumor morphology (size, volume), and histopathology (mitotic and necrosis rate, viable cell, hyalinization/fibrosis cytopathic effect) were reviewed and reassessed. Disease free survival (DFS) and overall survival (OS) were calculated using the Kaplan-Meier method, and the hazard ratio was derived from Cox proportional hazard models. Two predictive nomograms were calculated based on significant predictors identified. RESULTS: The 5-year DFS and OS were 52.9% and 70.3%, respectively. Tumor size before (HR:1.07, 95%CI: 1.01-1.14) and after PORT (HR:1.08, 95%CI: 1.01-1.14), tumor volume (HR:1.06, 95%CI: 1.01-1.12), mitotic rate after PORT (HR: 1.06, 95%CI: 1.02-1.11), mitotic rate change after PORT (HR:1.04, 95%CI:1.00-1.09) were independent risk factors for DFS. Tumor size before (HR:1.08, 95%CI: 1.03-1.14) and after PORT (HR:1.09, 95%CI: 1.04-1.15), tumor volume (HR:1.05, 95%CI: 1.01-1.09), mitotic rate after PORT (HR: 1.09, 95%CI: 1.04-1.13), mitotic rate change after PORT (HR:1.05, 95%CI:1.01-1.09) were independent risk factors for OS. The C-index of pathologic predictive nomogram based on mitotic rate for DFS and OS were 0.67 and 0.73, respectively. The C-index of morphology-pathology predictive nomogram for OS was 0.79. CONCLUSION: Tumor size before and after PORT, tumor volume, mitotic rate after PORT, mitotic rate change after PORT were independent risk factors for DFS and OS in high-grade STS patients treated with PORT. The mitotic rate, independent of tumor morphology, showed its potential as a prognostic biomarker for pathologic evaluation in patients treated with PORT.
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INTRODUCTION: There is recent evidence advocating the use of post-chemotherapy MRI for safe resection of primary bone sarcoma in providing a clear margin of disease. This paper challenges this view by providing evidence obtained from comparing surgical resection margin measurements calculated off the pre- and post-chemotherapy MRIs to the post-operative histological analysis. METHOD: A retrospective patho-radiological analysis of 10 patients treated for long bone Ewing's sarcoma. The pre- and post-chemotherapy MRI radiological measurements were correlated with the post-operative gross and microscopic histological specimens with the principle aim of determining which represented the accurate histological extent of disease and therefore which image set should be used in determining the surgical resection margins. RESULTS: In the 10 cases there was a discrepancy in the extent of pathological disease on comparative histological and radiological assessment. The mean age at presentation was 19.5years [4-45 years], with a female bias (n = 7/10). The lower limbs were more commonly involved than the upper limb (femur n = 2/10, tibia n = 3/10, fibula n = 2/10, humerus n = 2/10, ulna n = 1/10). There was no correlation between the percentage reduction in measured volume/length of pathological bone on sequential MRI and the percentage necrosis on histology. The average discrepancy between the length of pathological bone on histology and on MRI was 2.7 cm. Using the baseline pre-chemotherapy MRI to plan the surgical resection margins, 7/10 patients had their surgical resection margins through radiologically clear but pathologically abnormal bone (without histological evidence of residual tumour). Had the post-chemotherapy MRI been used a further 3 patients would have had their tumour resected through pathologically abnormal bone. No patients had or would have had tumour resected through residual tumour. CONCLUSIONS: The use of the post-chemotherapy MRI for planning surgical resection margins increases the risk of resecting through histologically abnormal bone that may have been previously contaminated by tumour, without significant benefit of preserving sufficient bone to facilitate joint or physeal sparing surgery. The evidence from this study supports current guidelines recommending the use of pre-chemotherapy MRI to plan safe surgical resection margins in Ewing's sarcoma.
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Neoplasias Óseas , Sarcoma de Ewing , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/cirugía , Femenino , Humanos , Márgenes de Escisión , Neoplasia Residual , Estudios Retrospectivos , Sarcoma de Ewing/diagnóstico por imagen , Sarcoma de Ewing/cirugíaRESUMEN
[This corrects the article DOI: 10.1016/j.radcr.2020.02.028.].
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Lipoblastoma/patología , Neoplasias Pélvicas/patología , Humanos , Masculino , Adulto JovenRESUMEN
Liposarcomas are the most common soft tissue sarcoma. They occur mainly in the thigh or retroperitoneum. Due to their size, lipomatous tumours can herniate either through the abdominal wall or in the groin. The part of the tumour that herniates represents only the 'tip of the iceberg', as the main part of the tumour is not detectable clinically and is often underestimated. Due to their deep location, lipomatous tumours are often large at the time of presentation and therefore their surgical management can be challenging. Furthermore, due to their delayed presentation, there is a higher risk of de-differentiation. In this pictorial review, we discuss different presentations of herniating lipomatous tumours according to the location of the abdominal wall defects. We aim to cover a wide spectrum of hernia defects including inguinal, ventral, lumbar, sciatic and ischiorectal hernias. We also present cases of tumours within the psoas compartment 'herniating' from the pelvis into the thigh. In case of a palpable lump, the first diagnostic step is to perform an ultrasound. If the herniating tissue is not fully accessible with ultrasound, additional cross-sectional imaging by CT or MRI is warranted. In this article, CT and MRI findings in lipomatous tumours are addressed and the use of contrast enhanced sequences in MRI is discussed. Patients' outcome depends not only on adequate diagnosis but also on the correct route of tissue sampling for histology and oncological resection to prevent local recurrence and loss of function. Therefore, referral to a specialised sarcoma treatment centre is key and needs to be done before biopsy.
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A tailgut cyst (retrorectal cystic hamartoma) is an uncommon lesion that develops in the presacral (retrorectal) space. Malignant change in a tailgut cyst is extremely rare and presents as a soft tissue (presacral) or bone (sacral) neoplasm. We report a case of tailgut cyst in which a neuroendocrine tumor developed in a 25-year-old female. Computed tomography and magnetic resonance imaging scans revealed a sacrococcygeal malformation with absent left S4 and S5 and a partly cystic lesion within the right presacral space. Histologically, the lesion contained cystic and solid elements. The cysts were lined by columnar and stratified squamous epithelial cells with underlying patchy smooth muscle. The solid element was a partly necrotic neuroendocrine tumor composed mainly of ribbons of tumor cells, which showed mitotic activity and expressed cytokeratin, chromogranin, and synaptophysin. Histologically, tailgut cysts are lined by epithelium and contain scattered smooth muscle bundles in the cyst wall. Although rare, the possibility of tailgut cyst with neuroendocrine tumor should be included in the differential diagnosis of an enlarging presacral tumor.
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Quistes/patología , Hamartoma/patología , Tumores Neuroendocrinos/patología , Neoplasias de los Tejidos Blandos/patología , Adulto , Biopsia , Quistes/diagnóstico , Quistes/cirugía , Diagnóstico Diferencial , Femenino , Fluorodesoxiglucosa F18/administración & dosificación , Hamartoma/diagnóstico , Humanos , Imagen por Resonancia Magnética , Tumores Neuroendocrinos/diagnóstico , Tumores Neuroendocrinos/cirugía , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Región Sacrococcígea/diagnóstico por imagen , Región Sacrococcígea/patología , Región Sacrococcígea/cirugía , Neoplasias de los Tejidos Blandos/diagnóstico , Neoplasias de los Tejidos Blandos/cirugíaRESUMEN
Next-generation sequencing (NGS) efforts have established catalogs of mutations relevant to cancer development. However, the clinical utility of this information remains largely unexplored. Here, we present the results of the first eight patients recruited into a clinical whole-genome sequencing (WGS) program in the United Kingdom. We performed PCR-free WGS of fresh frozen tumors and germline DNA at 75× and 30×, respectively, using the HiSeq2500 HTv4. Subtracted tumor VCFs and paired germlines were subjected to comprehensive analysis of coding and noncoding regions, integration of germline with somatically acquired variants, and global mutation signatures and pathway analyses. Results were classified into tiers and presented to a multidisciplinary tumor board. WGS results helped to clarify an uncertain histopathological diagnosis in one case, led to informed or supported prognosis in two cases, leading to de-escalation of therapy in one, and indicated potential treatments in all eight. Overall 26 different tier 1 potentially clinically actionable findings were identified using WGS compared with six SNVs/indels using routine targeted NGS. These initial results demonstrate the potential of WGS to inform future diagnosis, prognosis, and treatment choice in cancer and justify the systematic evaluation of the clinical utility of WGS in larger cohorts of patients with cancer.
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Biomarcadores de Tumor , Mutación , Neoplasias/diagnóstico , Neoplasias/genética , Secuenciación Completa del Genoma , Adolescente , Adulto , Anciano , Biopsia , Niño , Análisis Mutacional de ADN , Femenino , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Reino Unido , Adulto JovenRESUMEN
We report a case of an 88-year-old man with osteomyelitis of the right ankle, with histopathology demonstrating a Mycobacterium spindle cell pseudotumor. The Mycobacterium contained in this spindle cell pseudotumor was Mycobacterium chelonae. M. chelonae spindle cell pseudotumors are rare and have only been reported twice previously in the literature. Similarly, M. chelonae presenting as the pathogen in bone infection is rare. Due to this unusual presentation of M. chelonae, the antibiotic rationale was based largely on case reports and consisted of imipenem, clarithromycin, and linezolid. Antibiotic complications were experienced by the patient. Despite a renally adjusted dose of imipenem, the patient experienced imipenem toxicity and his antibiotics were modified to tigecycline and clarithromycin. Although his symptoms were clinically resolving, the patient sadly passed away before completing treatment.
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Infecciones por Mycobacterium no Tuberculosas/patología , Mycobacterium chelonae , Osteomielitis/microbiología , Osteomielitis/patología , Anciano de 80 o más Años , Antibacterianos/uso terapéutico , Resultado Fatal , Humanos , Masculino , Infecciones por Mycobacterium no Tuberculosas/diagnósticoRESUMEN
Giant cell-containing tumors of bone are characterized morphologically by the presence of numerous osteoclastic giant cells. Correlation of clinical, radiologic, and laboratory findings is required for accurate histopathologic diagnosis and treatment of a giant cell-containing tumor of bone. In differential diagnosis, it is particularly important to note the age of the patient and the skeletal location of the lesion. This article considers the range of neoplastic and nonneoplastic lesions, which histologically contain numerous osteoclastic giant cells, and focuses on several lesions that frequently enter into the differential diagnosis.
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Neoplasias Óseas/diagnóstico por imagen , Tumores de Células Gigantes/diagnóstico por imagen , Tumores de Células Gigantes/patología , Células Gigantes/patología , Factores de Edad , Diagnóstico Diferencial , Humanos , Osteoclastos/patologíaAsunto(s)
Clavícula/diagnóstico por imagen , Síndrome de Horner/diagnóstico por imagen , Osteocondroma/diagnóstico por imagen , Adolescente , Femenino , Síndrome de Horner/complicaciones , Humanos , Imagen por Resonancia Magnética , Osteocondroma/complicaciones , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
Because of advances in targeted therapies, the clinical evaluation of cutaneous melanoma is increasingly based on a combination of traditional histopathology and molecular pathology. Therefore, it is necessary to expand our knowledge of the molecular events that accompany the development and progression of melanoma to optimize clinical management. The central objective of this study was to increase our knowledge of the mutational events that complement melanoma progression. High-throughput genotyping was adapted to query 159 known single nucleotide mutations in 33 cancer-related genes across two melanoma cohorts from Ireland (n=94) and Belgium (n=60). Results were correlated with various clinicopathological characteristics. A total of 23 mutations in 12 genes were identified, that is--BRAF, NRAS, MET, PHLPP2, PIK3R1, IDH1, KIT, STK11, CTNNB1, JAK2, ALK, and GNAS. Unexpectedly, we discovered significant differences in BRAF, MET, and PIK3R1 mutations between the cohorts. That is, cases from Ireland showed significantly lower (P<0.001) BRAF(V600E) mutation rates (19%) compared with the mutation frequency observed in Belgian patients (43%). Moreover, MET mutations were detected in 12% of Irish cases, whereas none of the Belgian patients harbored these mutations, and Irish patients significantly more often (P=0.027) had PIK3R1-mutant (33%) melanoma versus 17% of Belgian cases. The low incidence of BRAF(V600E)(-) mutant melanoma among Irish patients was confirmed in five independent Irish cohorts, and in total, only 165 of 689 (24%) Irish cases carried mutant BRAF(V600E). Together, our data show that melanoma-driving mutations vary by demographic area, which has important implications for the clinical management of this disease.
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Melanoma/genética , Mutación , Fosfatidilinositol 3-Quinasas/genética , Proteínas Proto-Oncogénicas B-raf/genética , Proteínas Proto-Oncogénicas c-met/genética , Neoplasias Cutáneas/genética , Adulto , Anciano , Sustitución de Aminoácidos , Bélgica , Fosfatidilinositol 3-Quinasa Clase Ia , Estudios de Cohortes , Femenino , Estudios de Asociación Genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Irlanda , Masculino , Melanoma/metabolismo , Persona de Mediana Edad , Análisis de Secuencia por Matrices de Oligonucleótidos , Fosfatidilinositol 3-Quinasas/metabolismo , Mutación Puntual , Polimorfismo de Nucleótido Simple , Proteínas Proto-Oncogénicas B-raf/metabolismo , Proteínas Proto-Oncogénicas c-met/metabolismo , Neoplasias Cutáneas/metabolismo , Melanoma Cutáneo MalignoRESUMEN
Malignant cardiac tumours occurring on the left side are vanishingly rare entities. We describe a case of a 73-year-old male who underwent surgery for a left-sided cardiac tumour following initial presentation with transient ischaemic attacks. In addition to the unusual presentation and subsequent metastatic pattern to the femur, the tumour's pathological diagnosis was that of an epithelioid variant of an angiosarcoma which has not been previously described in this anatomical location.
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Neoplasias Óseas/secundario , Atrios Cardíacos/patología , Hemangiosarcoma/patología , Anciano , Núcleo Celular/patología , Diagnóstico Diferencial , Fémur/patología , Hemangiosarcoma/diagnóstico , Humanos , Inmunohistoquímica , MasculinoAsunto(s)
Neoplasias de la Mama , Tumor Filoide , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/patología , Neoplasias de la Mama/terapia , Femenino , Humanos , Tumor Filoide/diagnóstico , Tumor Filoide/epidemiología , Tumor Filoide/patología , Tumor Filoide/terapia , Factores de RiesgoAsunto(s)
Neoplasias de la Mama/diagnóstico , Escisión del Ganglio Linfático , Mastectomía , Registros Médicos/normas , Axila , Biomarcadores de Tumor/análisis , Neoplasias de la Mama/química , Neoplasias de la Mama/patología , Neoplasias de la Mama/cirugía , Femenino , Secciones por Congelación , Humanos , Ganglios Linfáticos/patología , Ganglios Linfáticos/cirugía , Masculino , Mastectomía/métodos , Valor Predictivo de las Pruebas , Pronóstico , Receptor ErbB-2/análisis , Receptores de Estrógenos/análisis , Receptores de Progesterona/análisis , Factores de Riesgo , Biopsia del Ganglio Linfático CentinelaRESUMEN
In the diagnostic workflow we need to think in algorithms, containing more assays. One of the most important task in the management of cancer patient is to detect nucleic acid sequence changes in clinical specimens. Before using the most expensive method to analyze direct our targets, a screening assay is needed to reduce the number of samples. In the detection of gene-sequence alterations classical screening methods are available, as SSCP, DGGE or TGGE, (Finke Exp Clin Endocrinol Diabetes 104:92-97, 1996; Lessa and Applebaum Mol Ecol 2:119-129, 1993) however these are very time consuming processes. At this time in the molecular lab the real-time PCR equipments are very popular and with the function of melting curve analysis it can be a very convenient, simple and cost-efficient screening method.
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Análisis Mutacional de ADN/métodos , Tumores del Estroma Gastrointestinal/genética , Proteínas Proto-Oncogénicas c-kit/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa/métodos , Algoritmos , Secuencia de Bases , Cartilla de ADN , Congelación , Humanos , Datos de Secuencia MolecularRESUMEN
UNLABELLED: Dermatofibrosarcoma protuberans is a low or moderate grade malignant, uncommon soft tissue tumor. The tumor is characterized by slow, but locally aggressive growth, low metastatic potential and high recurrence rate. Initial treatment is the radical surgical excision, using traditional wide excision or Mohs surgery. In case of positive surgical margin or local recurrence, radio-chemotherapy and recently imatinib mesylate is used as adjuvant therapy. AIMS: Twenty-six patients treated multidisciplinary for dermatofibrosarcoma protuberans were followed up. METHODS AND RESULTS: Mean age of the patients was 44.7 years; mean follow-up time was 60.57 months. In fifteen cases (57.7%) R0 resection was performed, while eleven patients (42,3%) received only R1 resection. An average of 1.87 resections was necessary in order to achieve R0 resection. Six patients (23%) received adjuvant radiotherapy and two patients (7.6%) adjuvant chemotherapy following the removal of the primary tumor. Sixteen patients had no local recurrence. Ongoing treatments were needed in the case of ten patients (38.4%) who developed local recurrence. One patient has deceased due to distant metastases. Using statistical methods we examined the effects indicated as prognostic factors in the literature on local recurrence, precisely, the effect of age above 50 years and surgical radicalism. CONCLUSIONS: Dermatofibrosarcoma protuberans can be successfully treated with multidisciplinary therapy. A larger number of cases and randomized multicenter investigations are needed in order to reach more accurate conclusion.
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Antineoplásicos/uso terapéutico , Dermatofibrosarcoma/terapia , Cirugía de Mohs , Neoplasias Cutáneas/terapia , Adulto , Anciano , Anciano de 80 o más Años , Benzamidas , Quimioterapia Adyuvante , Dermatofibrosarcoma/tratamiento farmacológico , Dermatofibrosarcoma/patología , Dermatofibrosarcoma/radioterapia , Dermatofibrosarcoma/cirugía , Femenino , Humanos , Mesilato de Imatinib , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/prevención & control , Piperazinas/administración & dosificación , Pirimidinas/administración & dosificación , Radioterapia Adyuvante , Neoplasias Cutáneas/tratamiento farmacológico , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/radioterapia , Neoplasias Cutáneas/cirugíaRESUMEN
About 15-20% of all ovarian epithelial neoplasms are of borderline type (or atypical proliferative or carcinoma of low malignant potential) and about 5-7% are mucinous type, which are the second most common type behind the serous borderline tumors. The borderline tumor is a serious diagnostic and treatment problem both for the pathologists and for clinicians. These tumors appeared to be intermediate in their histologic and prognostic features between the benign cystadenomas and clearly malignant carcinomas. The borderline tumors occur most commonly in childbearing age, and show an indolent course. Their prognosis is good, but they are resistant to the traditional chemotherapies. To diagnose the intraepithelial carcinoma, to detect the microinvasion and the expansive invasion in a mucinous borderline tumor, to differentiate from the metastasis of colorectal tumors may be very problematic in the majority of the cases. Eleven cases diagnosed as mucinous borderline ovarian tumor in our institute from 2000 to 2008 were reviewed. Eight out of 11 were intestinal type while three were cervical (mullerian) type. In 5 cases our diagnosis was intraepithelial carcinoma and in 5 cases we found microinvasion. We discuss all of these problems according to the latest literature and our experience, mentioning the problems of the peritoneal and ovarian pseudomyxomas.
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Adenocarcinoma Mucinoso/diagnóstico , Biomarcadores de Tumor/análisis , Neoplasias Ováricas/diagnóstico , Adenocarcinoma Mucinoso/química , Adenocarcinoma Mucinoso/patología , Adulto , Anciano , Antígeno Ca-125/análisis , Factor de Transcripción CDX2 , Diagnóstico Diferencial , Femenino , Proteínas Ligadas a GPI , Proteínas de Homeodominio/análisis , Humanos , Queratina-20/análisis , Queratina-7/análisis , Glicoproteínas de Membrana/análisis , Mesotelina , Persona de Mediana Edad , Invasividad Neoplásica , Neoplasias Ováricas/química , Neoplasias Ováricas/patología , Pronóstico , Receptores de Estrógenos/análisis , Receptores de Progesterona/análisisRESUMEN
Gardner's syndrome is a clinical subgroup of familial adenomatous polyposis, an autosomal dominant disease. It is characterized by gastrointestinal polyps and extra-intestinal manifestations including multiple osteomas, skin and soft tissue tumours. Aggressive desmoid tumours can be very difficult to manage in patients with Gardner's syndrome. We present a case of a 17-year-old female who presented with an aggressive desmoid tumor arising of the lumbar area as part of her Gardner's syndrome. She was treated with surgery, nonsteroidal anti-inflammatory drugs, tamoxifen and radiotherapy, and was followed up for 80 months. We conclude that desmoid tumors can precede gastrointestinal manifestations of familial adenomatous polyposis or Gardner's syndrome. Such patients should be evaluated with genetic testing followed by colonoscopy. Desmoid tumours should be managed in a multidisciplinary setting, as well.
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Antineoplásicos/uso terapéutico , Fibromatosis Agresiva/diagnóstico , Fibromatosis Agresiva/genética , Síndrome de Gardner/diagnóstico , Síndrome de Gardner/genética , Genes APC , Adolescente , Antineoplásicos Hormonales/uso terapéutico , Secuencia de Bases , Femenino , Fibromatosis Agresiva/tratamiento farmacológico , Fibromatosis Agresiva/etiología , Fibromatosis Agresiva/patología , Síndrome de Gardner/complicaciones , Síndrome de Gardner/tratamiento farmacológico , Síndrome de Gardner/patología , Mutación de Línea Germinal , Humanos , Datos de Secuencia Molecular , Estadificación de Neoplasias , Polimorfismo GenéticoRESUMEN
About 15-20% of all ovarian neoplasms are of borderline type (or atypical proliferative or carcinoma of low malignant potential). They represent a common diagnostic and treatment problem both for the pathologist and for clinicians. The borderline tumors occur most commonly in childbearing age, show an indolent course and have good prognosis but are resistant to the traditional chemotherapies. The serous borderline tumors are the most common types of borderline ovarian tumors and they can cause differential diagnostic problems even for the experienced pathologist. We studied 30 cases which were diagnosed in our institute from 2000 to 2008. Thirteen were typical serous borderline tumors, in 7 cases the pattern was micropapillary, in 2 cases with microinvasion and in the remaining 8 cases the borderline tumors were associated with low-grade serous carcinomas. Seventeen of the 22 borderline cases were stage I tumors. There were noninvasive implants in the remaining 5 cases and in the cases of the low-grade carcinomas we could find, besides the noninvasive implants (in 3 cases), invasive implants or metastasis too. The main diagnostic problems in serous ovarian borderline tumors are the presence of micropapillary pattern, to detect microinvasion, or to differentiate the pseudo-borderline pattern of the low-grade serous tumors from a real borderline tumor and especially to diagnose the extraovarian diseases (types of implants). We discuss these diagnostic problems and criteria according to recent literature and our experience.