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1.
Cancer Treat Rev ; 85: 101987, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32092619

RESUMO

AIMS: To make recommendations on the indications for molecular testing regarding the diagnosis, prediction of prognosis, and treatment selection in adult patients with s oft tissue sarcomas (STS) excluding gastrointestinal stromal tumour. MATERIALS AND METHODS: This guideline was developed by the Cancer Care Ontario's Program in Evidence-Based Care (PEBC) and the Sarcoma Disease Site Group (DSG). The medline, embase, and Cochrane Library databases, main guideline websites, abstracts of relevant annual meetings, and PROSPERO databases were searched (January 2005 to October 2016). Internal and external reviews were conducted, with final approval by the PEBC and the Sarcoma DSG. RESULTS: Based on the available evidence, we made three S trong Recommendations, 14 Recommendations, 9 Qualified Statements, and seven No Recommendations. The three Strong Recommendations include: i) MDM2 amplification by fluorescence in situ hybridization (FISH) is recommended as a sensitive and specific test to differentiate patients with atypical lipomatous tumour/well-differentiated liposarcoma, or dedifferentiated liposarcoma from lipoma or other STS in the differential diagnosis; ii) SS18 (SYT) break-apart by FISH or SS18-SSX (SYT-SSX) fusion by reverse transcription-polymerase chain reaction is recommended as a sensitive and specific test to differentiate patients with synovial sarcoma from other sarcomas; iii) CTNNB1 S45F mutation by polymerase chain reaction is recommended as a prognostic factor for poor recurrence-free survival in patients with desmoid tumours. CONCLUSION: This guideline may serve as a framework for the thoughtful implementation of molecular studies at cancer centres and other jurisdictions. Some of the recommendations may need to be updated when new evidence appears in the future.


Assuntos
Biomarcadores Tumorais/genética , Proteínas de Fusão Oncogênica/genética , Guias de Prática Clínica como Assunto , Sarcoma/genética , Neoplasias de Tecidos Moles/genética , Medicina Baseada em Evidências , Feminino , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/genética , Testes Genéticos , Humanos , Masculino , Ontário , Prognóstico , Sarcoma/diagnóstico , Sarcoma/terapia , Sensibilidade e Especificidade , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/terapia
2.
Medicine (Baltimore) ; 99(3): e18800, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32011484

RESUMO

RATIONALE: Low-grade malignant fibrous myxoid sarcoma (LGFMS) is a malignant tumor that originates from soft tissues and has specific clinical and histopathological characteristics. Paravertebral LGFMS is rarely reported. PATIENT CONCERNS: A 60-year-old woman had pain in the lower back and right anterior thigh for more than 3 years. DIAGNOSIS: Paravertebral LGFMS. INTERVENTIONS: Tumor resection, vertebral canal decompression and pedicle screw fixation. OUTCOMES: The tumor was excised, and the vertebral arch was fixed with pedicle screws at the root. Chemoradiotherapy was not performed. Her postoperative visual analogue scale (VAS) score decreased from 7 points at admission to 2 points at follow-up. The patient was discharged at postoperative day 13, and no recurrence was observed at the 6-month follow-up. LESSONS: Although LGFMS is rare, it should be considered in differential diagnosis of other soft tissue tumors to avoid misdiagnosis and inappropriate treatment.


Assuntos
Sarcoma/diagnóstico , Sarcoma/cirurgia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/cirurgia , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Sarcoma/complicações , Neoplasias de Tecidos Moles/complicações , Compressão da Medula Espinal/diagnóstico , Compressão da Medula Espinal/etiologia , Compressão da Medula Espinal/cirurgia , Coluna Vertebral
3.
Medicine (Baltimore) ; 99(5): e18952, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32000418

RESUMO

RATIONALE: Alveolar soft part sarcoma (ASPS) is a rare malignant soft tissue neoplasm with controversial histogenesis. ASPS accounts for 0.5% to 1% of all soft tissue sarcomas. Because of its rarity, ASPS is easily misdiagnosed, increasing the risk of incorrect treatment. PATIENT CONCERNS: A 6-year-old female patient presented with a history of a 2.0 × 2.5 × 3.0-cm mass in the deep soft tissues of her right lower extremity. DIAGNOSES: Histopathological features indicated the diagnosis of ASPS. Microscopically, a diffuse arrangement of tumor cells or pseudoalveolar architectures separated by thin and well-vascularized fibrous septa were observed. Immunohistochemical staining of the tumor cells indicated positivity for transcription factor E3, myogenic determination factor 1, and periodic acid-Schiff-diastase (PAS-D) and showed a Ki-67 proliferating index of approximately 20%. INTERVENTIONS: The patient underwent enlarged resection of the tumor and was treated with radiotherapy. OUTCOMES: During the 3-year follow-up, the patient has remained in good condition, with no symptom recurrence, distant metastatic spread, or significant toxicity during or after treatment. The patient remains under regular surveillance. LESSONS: Its low incidence, lack of characteristic clinical manifestations, and atypical location often lead to ASPS misdiagnosis and subsequent incorrect treatment. Nuclear expression of transcription factor E3 is of diagnostic value for ASPS. At present, there is no consensus on the treatment for ASPS. In-depth pathological analysis is needed to better understand the characteristics of this tumor.


Assuntos
Sarcoma Alveolar de Partes Moles/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico , Criança , Diagnóstico Diferencial , Feminino , Humanos , Perna (Membro)/diagnóstico por imagem , Perna (Membro)/patologia , Sarcoma Alveolar de Partes Moles/patologia , Sarcoma Alveolar de Partes Moles/radioterapia , Sarcoma Alveolar de Partes Moles/cirurgia , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/radioterapia , Neoplasias de Tecidos Moles/cirurgia
4.
Virchows Arch ; 476(1): 3-15, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31701221

RESUMO

Although traditional morphological evaluation remains the cornerstone for the diagnosis of soft tissue tumors, ancillary diagnostic modalities such as immunohistochemistry and molecular genetic analysis are of ever-increasing importance in this field. New insights into the molecular pathogenesis of soft tissue tumors, often obtained from high-throughput sequencing technologies, has enabled significant progress in the characterization and biologic stratification of mesenchymal neoplasms, expanding the spectrum of immunohistochemical tests (often aimed towards recently discovered genetic events) and molecular genetic assays (most often fluorescence in situ hybridization and reverse transcription-polymerase chain reaction). This review discusses selected novel molecular and immunohistochemical assays with diagnostic applicability in mesenchymal neoplasms, with emphasis on diagnosis, refinement of tumor classification, and treatment stratification.


Assuntos
Neoplasias de Tecidos Moles/diagnóstico , DNA Helicases/análise , Fusão Gênica , Humanos , Imuno-Histoquímica , Proteínas Nucleares/análise , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas c-fos/genética , Proteína EWS de Ligação a RNA/genética , Receptor trkA/genética , Proteínas Repressoras/genética , Proteína SMARCB1/análise , Neoplasias de Tecidos Moles/química , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Fatores de Transcrição/análise
5.
Virchows Arch ; 476(1): 121-134, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31701222

RESUMO

Soft tissue tumors encompass a wide variety of mesenchymal neoplasms exhibiting diverse clinical, pathologic, and molecular features. Among these, osteoid and/or chondroid matrix deposition in some soft tissue tumors represents a noticeable characteristic. Unlike matrices present in bone tumors where they likely reveal the respective cells of origin (i.e., osteoblastic or chondroblastic precursors), those existing in soft tissue tumors more often denote a metaplastic phenomenon and reflect the diversity of differentiation these tumors can display. While many soft tissue tumor types can occasionally harbor metaplastic bone or cartilage as an incidental component or heterologous differentiation, in some other tumor types, the production of these matrices is a frequent and distinctive, if not diagnostic, feature. This review focuses on the latter tumor types where emerging immunohistochemical and molecular evidence has significantly improved our understanding of their respective pathogenesis and histopathological spectra. These tumor types include ossifying fibromyxoid tumor, phosphaturic mesenchymal tumor, synovial chondromatosis, soft tissue chondroma, calcifying aponeurotic fibroma, giant cell tumor of soft tissue, myositis ossificans and related diseases, mesenchymal chondrosarcoma, and extraskeletal osteosarcoma.


Assuntos
Neoplasias de Tecidos Moles/genética , Condromatose Sinovial/genética , Tumores de Células Gigantes/genética , Tumores de Células Gigantes/patologia , Humanos , Imuno-Histoquímica , Miosite Ossificante/genética , Miosite Ossificante/patologia , Osteossarcoma/genética , Osteossarcoma/patologia , Proteínas Proto-Oncogênicas c-mdm2/genética , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/etiologia , Neoplasias de Tecidos Moles/patologia
6.
Virchows Arch ; 476(1): 81-96, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31686193

RESUMO

Epithelioid cell features mimicking carcinomas characterize a variety of histogenetically, phenotypically, and molecularly distinct subsets of mesenchymal neoplasms. In a pathogenetic sense, epithelioid soft tissue tumors basically fall into three main genetic categories: (1) switch/sucrose non-fermenting (SWI/SNF) complex-deficient tumors (with epithelioid sarcoma as their prototype); (2) epithelioid neoplasms driven by specific rare gene fusions (such as sclerosing epithelioid fibrosarcoma with EWSR1 fusions and GLI1-related malignant epithelioid soft tissue neoplasms); and (3) a heterogeneous group encompassing epithelioid variants of diverse other entities. Notably, lesions in the first and third groups may display variable, occasionally prominent, rhabdoid cell morphology, thus further complicating their differential diagnosis. This review summarizes the main clinicopathological, phenotypic, and genotypic features of these diseases and discusses their pertinent differential diagnostic considerations.


Assuntos
Células Epitelioides/patologia , Neoplasias de Tecidos Moles/patologia , Proteínas Cromossômicas não Histona/fisiologia , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica , Proteínas de Neoplasias/genética , Neoplasias da Bainha Neural/diagnóstico , Neoplasias da Bainha Neural/patologia , Proteínas Nucleares/genética , Tumor Rabdoide/diagnóstico , Tumor Rabdoide/patologia , Neoplasias de Tecidos Moles/diagnóstico , Fatores de Transcrição/fisiologia
7.
Medicine (Baltimore) ; 98(52): e18434, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31876722

RESUMO

RATIONALE: Although lipomas are the most common benign form of soft tissue tumor in the body, giant lipomas of the hand, defined as >5 cm in diameter, are extremely rare. PATIENT CONCERNS: A 49-year-old man presented with a soft and fixed lump in the left hypothenar area. The mass was not tender, but it was associated with symptoms of tingling sensation and paresthesia in the left ring and little fingers that had lasted for 4 years. DIAGNOSES: Preoperative image studies revealed an encapsulated and multilobulated mass, which measured 8 cm × 5 cm × 2 cm. Basic histologic examination identified the specimen as a lipoma and further immunohistochemical studies ruled out the possibility of malignancy. INTERVENTIONS: To enable a complete excision of the mass, the palmar digital branch of the ulnar nerve for the little finger passing through the mass was temporarily transected. After complete excision of the mass, the branch was coapted again under microscopy. OUTCOMES: Complete sensory recovery was achieved 6 months after surgery, without any sign of recurrence. LESSONS: Although giant lipomas in the hand can extend to vital components such as neurovascular structures, muscles, and tendons, meticulous en bloc resection can provide excellent results without any complications.


Assuntos
Mãos , Lipoma/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico , Mãos/diagnóstico por imagem , Mãos/patologia , Mãos/cirurgia , Humanos , Lipoma/diagnóstico por imagem , Lipoma/patologia , Lipoma/cirurgia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/cirurgia , Tomografia Computadorizada por Raios X
8.
Medicine (Baltimore) ; 98(42): e17619, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31626141

RESUMO

RATIONALE: Liposarcomas are locally invasive mesenchymal soft tissue tumors; most deep liposarcomas are large. Liposarcomas have heterogeneous histomorphology, molecular and genetic characteristics, and clinical prognosis, making the diagnosis and treatment of giant liposarcomas difficult for bone tumor surgeons. PATIENT CONCERNS: A 70-year-old man presented with a mass in the posterior part of his left lower extremity that was first noticed 3 years prior. The mass was initially fist sized but continued to grow and had been affecting lower limb mobility on presentation. DIAGNOSES: Computed tomography and magnetic resonance imaging revealed a large space-occupying lesion in the left thigh muscles, which was identified as a low-grade malignant tumor. Postoperative pathology results confirmed the diagnosis of atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS). INTERVENTIONS: The patient underwent open surgery to completely remove the tumor tissue and relieve pain. OUTCOMES: At the 10-month follow-up appointment, the patient had recovered well, function of the lower extremities had returned to normal, and no signs of recurrence or metastasis were noted. LESSONS: Although ALT/WDLPS is a locally invasive tumor with good prognosis, delayed treatment is associated with increased tumor size, which can affect lower limb mobility. Therefore, we believe that extensive surgical resection of tumor tissue is a suitable treatment for all ALT/WDLPS cases in order to avoid possible local recurrence. In addition, for ALT/WDLPS tumors that are difficult to extensively excise, long-term follow-ups are necessary due to the possibility of recurrence.


Assuntos
Lipossarcoma/diagnóstico , Imagem por Ressonância Magnética/métodos , Neoplasias de Tecidos Moles/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Idoso , Biópsia , Diagnóstico Diferencial , Humanos , Extremidade Inferior , Masculino
9.
Acta Ortop Mex ; 33(2): 81-87, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31480108

RESUMO

INTRODUCTION: Tumors in the hand are rare, and malignant tumors in the hand are peculiar; However, primary pseudotumoral lesions of the hand, such as ganglion, are very frequent. Most of the tumors found in the bone and soft tissue can be presented in the same way in the hand but their frequency and distribution is different. Despite the low incidence of benign and malignant tumors in the hand, these can be locally invasive or compromise the hand function. The main objective of this study is to determine the epidemiology, types, location and management of tumors and pseudotumors of the hand in adults in the Mexican population. MATERIAL AND METHODS: We designed a retrospective study by review of clinical records of patients in our institution with diagnosis of tumors or pseudotumors in hand from January 2007 to December 2016 evaluating variables such as age, gender, laterality, Diagnosis, histological lineage, localization and treatment. RESULTS: Our study comprises 215 patients with an average age of 44.23 years, predominantly women. Pseudotumors are the most frequently encountered (synovial cyst), followed by benign soft tissue tumors, benign bone tumors, and, finally, malignant tumors. DISCUSSION: After all we suggests a possible new classification for the hand that is simple, reproducible and give guidance for treatment. The need for a classification system is imminent to standardize diagnostics, guide future research, focus treatments and preserve hand function.


Assuntos
Neoplasias Ósseas , Mãos , Neoplasias de Tecidos Moles , Adulto , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/epidemiologia , Feminino , Mãos/patologia , Humanos , Incidência , Masculino , Estudos Retrospectivos , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/epidemiologia
10.
Ann Chir Plast Esthet ; 64(4): 326-333, 2019 Aug.
Artigo em Francês | MEDLINE | ID: mdl-31387726

RESUMO

INTRODUCTION: Despite regular recommendations issued by the European Society for Medical Oncology (ESMO), patients faced still too often inadequate care with a direct influence on prognosis. METHODS: A retrospective study was carried out at the Competence center in Lorraine Area. Patients registered in the NetSarc database between 1st, 2010 and September 1st, 2016 were included. Compliance criteria were established using the latest ESMO 2014 referential. Two groups "conforming" and "non conforming" were analyzed. A first analyze about all of the soft tissue lesion and a second only about sarcomas. RESULTS: In total, 445 patients were eligible, 344 cases were treated according to the ESMO guidelines, giving a 77.3% conformity rate (95% CI: 73.4%, 81.2%). Compliance was better for the competence center than district hospitals (P<0.001), with compliance rates of 88.7%, and 51.6%, respectively. Among the 247 sarcomas, we found a R0 resection rate better according to the ESMO guideline, 55% against 18% (P<0.001). R1 rates were 34% vs. 56% and R2 11 vs. 26% disease free survival was not related significantly to the observance of recommendations in the univariate analysis. After adjustment on potential DFS prognostic factors, in the multivariate analysis, the results were similar. CONCLUSION: Compliance with the ESMO guidelines, through appropriate management, improves the quality of surgical excision for sarcomas and avoids non-corresponding surgical gestures.


Assuntos
Fidelidade a Diretrizes/estatística & dados numéricos , Sarcoma/diagnóstico , Sarcoma/cirurgia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , França , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
11.
Virchows Arch ; 475(6): 763-770, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31410559

RESUMO

Myopericytomas (MPC) are rare mesenchymal tumors, originating from the perivascular myoid cells. They predominantly occur in the skin and superficial soft tissues of the extremities, while visceral involvement is rare. Histological features and clinical course are usually benign. To the best of our knowledge, MPC is still an uncharacterized tumor entity of the female internal genital tract. We describe three MPC cases involving the female internal genital tract: (1) a uterine wall MPC arising in a 49-year-old woman with progressive pelvic/abdominal pain; (2) a cervix MPC of a 49-year-old woman who presented with metrorrhagia, and (3) a MPC presenting as a simple ovarian cyst in a 26-year-old woman with pain located in the left iliac fossa. All patients were surgically treated, and recurrence occurred in two cases. The histological and immunohistochemical findings, supporting the diagnosis of MPC, are presented; in particular, one case showed characteristics pointing towards an uncertain biological behavior/low-grade malignancy. A literature search was conducted to identify previous reports of gynecological MPC and for possible alternative diagnoses. Leiomyoma, epithelioid leiomyoma, angioleiomyoma, perivascular epithelioid cell tumor, solitary fibrous tumor, and low-grade endometrial stromal sarcoma should be considered in the differential diagnosis. Awareness of possible occurrence of this rare neoplasm in the female genital tract is important to reach a correct diagnosis in the spectrum of mesenchymal tumors. Considering the risk of recurrence, we recommend careful evaluation of surgical margins and complete surgical removal whenever possible.


Assuntos
Leiomioma/patologia , Miopericitoma/patologia , Recidiva Local de Neoplasia/patologia , Neoplasias de Tecidos Moles/patologia , Adulto , Biomarcadores Tumorais/análise , Diagnóstico Diferencial , Feminino , Humanos , Leiomioma/diagnóstico , Pessoa de Meia-Idade , Miopericitoma/diagnóstico , Recidiva Local de Neoplasia/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/patologia , Neoplasias de Tecidos Moles/diagnóstico , Tumores Fibrosos Solitários/diagnóstico , Tumores Fibrosos Solitários/patologia
12.
J Cancer Res Ther ; 15(4): 947-952, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31436257

RESUMO

Undifferentiated sarcoma (UNDS) of the soft tissue is an exceedingly rare disease. Its diagnosis depends mainly on molecular and immunohistochemical analyses to exclude other soft-tissue sarcomas. It is difficult to confirm a positive diagnosis by imaging pathological features because of their rarity and similarity with other conditions. Since 2013, only 13 cases of undifferentiated soft-tissue sarcoma, mostly diagnosed through imaging of solid tumors in infant and children, have been reported. The authors present a rare case of a 3-month-old Chinese boy with UNDS primarily in the left lower extremity and characterized by a cystic and solid growth pattern.


Assuntos
Cistos/patologia , Extremidade Inferior/patologia , Sarcoma/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico , Diagnóstico Diferencial , Humanos , Lactente , Masculino , Prognóstico
13.
Pediatr Surg Int ; 35(9): 979-983, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31256295

RESUMO

PURPOSE: Presacral masses associated with anorectal malformations (ARM) are most frequently dermoid or teratomas. Sacrococcygeal teratoma (SCT), in isolation, is a different condition. There are limited data comparing the two. The aim of this study was to compare presacral masses associated with ARM and isolated SCTs. METHODS: A retrospective review was performed from 1979 to 2018. Patients with presacral masses and associated ARM (n = 39) were identified and compared to patients with isolated SCTs (n = 32). RESULTS: Those with presacral mass and ARM had a lower proportion of immature and mixed teratomas by pathology and a longer time to mass resection. They had higher percentages of sacral anomalies (76% versus 9%), tethered cord (50% versus 6%), and other anomalies (51% versus 9%). For long-term bowel function, patients with presacral mass and ARM were more likely to be fecally incontinent and require enemas (59% versus 11%). Regarding isolated SCTs, 4% recurred with a time to recurrence of 7 months. CONCLUSIONS: Compared to patients with isolated SCT, patients with presacral mass and ARM had lower grade tumors. In addition, they had a higher proportion of sacral defects and other congenital defects, as well as worse bowel function outcomes.


Assuntos
Malformações Anorretais/complicações , Malformações Anorretais/patologia , Neoplasias de Tecidos Moles/complicações , Neoplasias de Tecidos Moles/patologia , Teratoma/complicações , Teratoma/patologia , Malformações Anorretais/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Região Sacrococcígea/cirurgia , Neoplasias de Tecidos Moles/diagnóstico , Teratoma/diagnóstico
14.
Medicine (Baltimore) ; 98(27): e16296, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31277164

RESUMO

Tumor-induced osteomalacia causing by phosphaturic mesenchymal tumor of the foot is exceedingly rare, thus may bring great challenges to the timely and proper diagnosis and treatment of clinicians. The only definitive management is removal of the phosphaturic mesenchymal tumor completely. The objective of this article is to report 2 unusual cases with tumor-induced osteomalacia causing by phosphaturic mesenchymal tumor of the foot.We describe 2 patients with phosphaturic mesenchymal tumor involving the foot who were successfully treated with tumor resection. On presentation to our institution, the patients both had signs of severe osteomalacia, and the patients' most outstanding complaints were diffuse bone pain, general weakness, and disabled walking. A 53-year-old female underwent surgical excision of pathogenic tumor on the sole of left foot. A 62-year-old female underwent complete excision of pathogenic tumor of right plantar. The patients showed appropriate destruction of the tumor, adequate pain relief, and the elevated blood phosphorus levels compared with the previous status.Surgical resection is the most effective treatment option for patients with tumor-induced osteomalacia who can undergo appropriate surgical treatment. This represents a safe and reasonable approach to sustainably relieve pain and other symptoms with tumor-induced osteomalacia in the foot.


Assuntos
, Mesenquimoma/complicações , Neoplasias de Tecido Conjuntivo/cirurgia , Neoplasias de Tecidos Moles/complicações , Feminino , Seguimentos , Humanos , Imagem por Ressonância Magnética , Mesenquimoma/diagnóstico , Pessoa de Meia-Idade , Neoplasias de Tecido Conjuntivo/diagnóstico , Neoplasias de Tecido Conjuntivo/etiologia , Neoplasias de Tecidos Moles/diagnóstico
15.
Adv Anat Pathol ; 26(5): 320-328, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31261249

RESUMO

Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that ectopically secretes fibroblast growth factor 23, a bone cell-derived protein that regulates phosphate homeostasis. The overproduction of fibroblast growth factor 23 causes a paraneoplastic syndrome characterized by hyperphosphaturia, hypophosphatemia, hypovitaminosis D, and vitamin D refractory rickets/osteomalacia, effects that disappear with tumor removal. The PMT may occur in several anatomic regions, mainly in the limbs, usually involving both soft tissue and bone. Acral locations occur in 10% to 15% of the cases, mostly in the feet, with 95 cases reported in this anatomic region to date. We report a case of a PMT in a young adult male who presented in 2007 with the classic constellation of signs and symptoms. A small soft-tissue tumor was detected in his right heel, 3 years after exhaustively seeking for it by various imaging techniques performed at different institutions. Before the tumor was detected, attempts to manage this patient's osteomalacia with phosphate and vitamin D (both calcitriol and ergocalciferol) supplementation were unsuccessful. Following surgical resection, the patient experienced prompt correction of the phosphaturia and gradual reconstitution of his bone mineralization. The pathologic diagnosis was (benign) PMT, mixed connective tissue type. In 2019, 12 years after resection, the patient is asymptomatic, and his bone mineral homeostasis has been restored.


Assuntos
Fatores de Crescimento de Fibroblastos/sangue , Mesenquimoma/patologia , Osteomalacia/patologia , Fosfatos/metabolismo , Neoplasias de Tecidos Moles/patologia , Adulto , Osso e Ossos/metabolismo , Humanos , Masculino , Mesenquimoma/diagnóstico , Osteomalacia/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico
16.
Acta Myol ; 38(2): 41-44, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31309182

RESUMO

Myopericytoma is a benign tumor with the most common presentation as a well-circumscribed, slow-growing mass. It is frequently misdiagnosed as a sarcoma. We presented a 23-year-old patient with a history of a sciatic pain of the right leg. A careful physical examination discovered tumor-like mass in the posterior part of the thigh. Neurological finding showed a reduction of myotatic reflexes on the right leg with a weaker muscle strength on the right leg. The right leg musculature was slightly hypotrophic in the range of 2-3 cm comparing to left leg. Initially electrophysiological and radiological diagnostic with magnetic resonance imaging (MRI) of the lumbar spine, pelvis and thighs were normal. Magnetic resonance imaging of the right thigh discovered a slow growing 2.1 × 3.8 cm sized mass that was initially described by radiologist as a neurinoma. Patient was admitted to department of neurosurgery and operated on for a tumor removal. Tumor was located intimately to femur and sciatic nerve and after careful dissection completely removed. Patient was doing well after surgery and discharge after three days from the hospital. In the postoperative period the symptoms disappeared. Histopathology showed a myopericitoma. Postoperative MRI after three months of follow up showed no tumor residues, and after 6 and 12 months there was no tumor recurrence. Myopericytoma behave in a benign fashion, but, because local recurrences and rarely metastases may occur in atypical and malignant neoplasms, a careful follow-up after radical resection is recommended.


Assuntos
Miopericitoma/diagnóstico , Miopericitoma/cirurgia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/cirurgia , Coxa da Perna , Feminino , Humanos , Adulto Jovem
18.
Orthopedics ; 42(4): e364-e369, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31323108

RESUMO

Giant cell tumor (GCT) of the soft tissue (GCT-ST) is a rare, unusual primary soft tissue tumor that is completely distinct from, and should not be confused with, any giant cell-rich tumor of bone or soft tissue. Currently, GCT-ST is included in the group of so-called fibrohistiocytic tumors of intermediate (borderline) malignancy. The most common symptom is a painless, slow-growing mass in a superficial location. Computed tomography and magnetic resonance imaging show a solid, nonhomogeneous, frequently hemorrhagic mass. Differential diagnosis is broad and should include benign and malignant entities. The treatment and excision margins of GCT-ST are controversial. Incomplete surgical excision is usually followed by local recurrence. Biological behavior is unpredictable. Giant cell tumor of the soft tissue has shown a lower mean local recurrence rate compared to GCT of bone but has a higher metastatic and death rate. Therefore, close clinical follow-up is recommended. [Orthopedics. 2019; 42(4):e364-e369.].


Assuntos
Tumores de Células Gigantes/cirurgia , Recidiva Local de Neoplasia/cirurgia , Procedimentos Ortopédicos/métodos , Neoplasias de Tecidos Moles/cirurgia , Tumores de Células Gigantes/diagnóstico , Tumores de Células Gigantes/patologia , Humanos , Recidiva Local de Neoplasia/patologia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/patologia
19.
Eur Arch Otorhinolaryngol ; 276(10): 2635-2647, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31338576

RESUMO

INTRODUCTION: The tissues of the laryngeal region only rarely harbor primary cartilaginous lesions, and squamous cell carcinoma remains the most frequently encountered malignant tumor in this area. MATERIALS AND METHODS: We reviewed the salient histological features of cartilaginous laryngeal lesions to provide differential diagnostics and guidelines for distinguishing the benign from the malignant ones. RESULTS: Cartilaginous neoplasms of the larynx include chondroma and chondrosarcoma. Among the overarching group of all forms of laryngeal sarcoma, chondrosarcoma forms the most common entity in the larynx, followed by rhabdomyosarcoma. Cartilaginous tumors comprise about 0.1%-1% of all laryngeal neoplasms with chondrosarcomas being more frequently encountered than chondromas. Several neoplasms earlier reported as giant-cell tumors of the larynx would most likely, using current terminology, be classified as cases of undifferentiated pleomorphic sarcoma (previously known as malignant fibrous histiocytoma, giant-cell variant) or aneurysmal bone cyst. CONCLUSION: When true laryngeal sarcomas do exist, they may prove to be challenging lesions both for the pathologist and the treating clinician. The diagnostic problems are mainly a result of the infrequent exposure of clinicians and diagnosticians to these lesions.


Assuntos
Carcinoma de Células Escamosas/diagnóstico , Condroma , Condrossarcoma , Cartilagens Laríngeas/patologia , Neoplasias Laríngeas , Neoplasias de Tecidos Moles , Biópsia/métodos , Neoplasias Ósseas/diagnóstico , Condroma/diagnóstico , Condroma/patologia , Condroma/terapia , Condrossarcoma/diagnóstico , Condrossarcoma/patologia , Diagnóstico Diferencial , Feminino , Humanos , Neoplasias Laríngeas/classificação , Neoplasias Laríngeas/diagnóstico , Neoplasias Laríngeas/patologia , Neoplasias Laríngeas/terapia , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Otorrinolaringológicos/métodos , Prognóstico , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/terapia
20.
Diagn Pathol ; 14(1): 79, 2019 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-31311568

RESUMO

AIMS: Pseudomyogenic hemangioendothelioma (PHE)/epithelioid sarcoma-like hemangioendothelioma (ES-H) is a rare vascular tumor of intermediate malignancy that commonly occurs in soft tissue of distal extremities of young adults. PHE typically has a multifocal presentation and can involve several tissue planes, including the dermis, subcutis, muscle and bone. METHODS AND RESULTS: We present here a unique case of PHE/ESH that arose in the breast as well as a review of the published literature. The initial biopsy was interpreted as a metaplastic carcinoma. However, complete resection largely revealed plump epithelioid cells, and a more spindled cell component was also noted. The cells displayed abundant eosinophilic cytoplasm and central vesicular nuclei arranged in loose fascicles, with a mild, mixed acute and chronic inflammatory infiltrate. Overall, linear membranous staining of CD31 and lack of CD34 expression were highly suggestive of PHE. At the same time, FOSB immunoreactivity was observed, which supported PHE/ESH instead of metaplastic carcinoma. The patient has not shown recurrence in the half year follow up after total mastectomy. CONCLUSION: To our knowledge, this is the first report of breast involvement in this neoplasm. Recognition of its histopathological features and immunohistochemical reactivity will prevent misdiagnosis of breast lesions.


Assuntos
Neoplasias da Mama/patologia , Hemangioendotelioma/patologia , Recidiva Local de Neoplasia/patologia , Neoplasias de Tecidos Moles/patologia , Adulto , Biomarcadores Tumorais/análise , Biópsia , Neoplasias da Mama/diagnóstico , Carcinoma/diagnóstico , Carcinoma/patologia , Diagnóstico Diferencial , Erros de Diagnóstico , Feminino , Hemangioendotelioma/diagnóstico , Hemangioma/diagnóstico , Hemangioma/patologia , Humanos , Mastectomia/métodos , Recidiva Local de Neoplasia/diagnóstico , Lesões Pré-Cancerosas , Neoplasias de Tecidos Moles/diagnóstico
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