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1.
Neurosurgery ; 88(4): 804-811, 2021 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-33442732

RESUMO

BACKGROUND: Neuromuscular choristoma (NMC) is a peripheral nerve malformation frequently associated with a fibromatosis (NMC-DTF) that mimics sporadic desmoid-type fibromatosis (DTF). Sporadic DTF is often managed conservatively but its clinical behavior varies. CTNNB1 mutational subtypes in sporadic DTF have prognostic value. We have previously identified CTNNB1 mutations in NMC, and 3 paired NMC-DTF but the clinical behavior of NMC-DTF is poorly understood. OBJECTIVE: To evaluate patients with NMC-DTF to determine (1) CTNNB1 mutational subtypes in NMC-DTF, and (2) associated clinical behavior and response to treatment. METHODS: Retrospective review of clinical, imaging, and pathologic features of patients with NMC and NMC-DTF, and molecular testing for CTNNB1 mutations. RESULTS: Among 7 patients with NMC of the sciatic nerve (median age: 18 yr), NMC-DTF (mean size 10.7 cm) developed shortly following NMC biopsy (N = 5) or spontaneously (N = 2): 6 NMC-DTF had CTNNB1 p.S45X mutations and 1 NMC-DTF had a p.T41A mutation. All patients with CTNNB1-p.S45-mutated NMC-DTF developed local progression after wide local excision or active surveillance, including one distal metachronous NMC-DTF. No patient had spontaneous disease stabilization. Following adjuvant radiation or systemic therapy, disease stabilization was achieved in 4 (of 6) patients. One patient progressed on sorafenib treatment. CONCLUSION: NMC-DTF frequently contain CTNNB1 p.S45 mutations, behave aggressively, and require adjuvant therapies for disease stabilization. We now use imaging alone to diagnose NMC, and routinely surveille the NMC-affected nerve segment to identify early NMC-DTF. In contrast to sporadic DTF, earlier adoption of systemic therapeutic strategies may be required for optimal disease management of NMC-DTF.


Assuntos
Coristoma/genética , Fibroma/genética , Músculo Esquelético , Mutação/genética , Nervos Periféricos , beta Catenina/genética , Adolescente , Adulto , Coristoma/diagnóstico por imagem , Coristoma/patologia , Feminino , Fibroma/diagnóstico por imagem , Fibroma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Nervos Periféricos/diagnóstico por imagem , Prognóstico , Estudos Retrospectivos , Adulto Jovem
2.
BMJ Case Rep ; 14(1)2021 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-33431471

RESUMO

Fibromatosis colli, also known as 'sternocleidomastoid tumour of infancy' or 'pseudotumour of infancy', is a rare condition involving fibrosis and swelling, or 'tumour' of the sternocleidomastoid muscle in newborns that typically occurs after a traumatic delivery. Although usually self-limited, fibromatosis colli can lead to congenital muscular torticollis and positional plagiocephaly due to uneven forces on the neonatal skull. Ultrasound is the diagnostic imaging modality of choice and can prevent additional imaging and unnecessary intervention.


Assuntos
Fibroma/diagnóstico por imagem , Músculos do Pescoço , Plagiocefalia não Sinostótica/diagnóstico por imagem , Plagiocefalia não Sinostótica/etiologia , Torcicolo/congênito , Fibroma/complicações , Fibroma/terapia , Humanos , Recém-Nascido , Masculino , Modalidades de Fisioterapia , Plagiocefalia não Sinostótica/terapia , Torcicolo/diagnóstico por imagem , Torcicolo/etiologia , Torcicolo/terapia , Ultrassonografia
3.
Tokai J Exp Clin Med ; 45(2): 53-57, 2020 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-32602101

RESUMO

BACKGROUND: Myxofibrosarcoma is a rare disease occurring subcutaneously in the limbs. We report a case of a rapidly growing myxofibrosarcoma in the breast of an elderly man that recurred early after surgery. CASE PRESENTATION: A 73-year-old man presented with a breast mass. Physical findings showed a large tumor in the right breast, and malignancy was suspected on ultrasonography. Computed tomography (CT) revealed tumor invasion into the pectoralis major and pectoralis minor muscles. Positron emission tomography/CT showed no abnormality in other organs. Needle biopsy results excluded breast cancer but did not provide a definitive diagnosis. However, the tumor grew rapidly before further results were available, so emergency mastectomy was performed. The final pathological diagnosis was high-grade myxofibrosarcoma. Postoperative radiotherapy was started because of remnant tumor. The wound became worsened and swollen, and needle biopsy 10 days after the start of therapy indicated recurrence. Radical resection and thoracoplasty were performed. Postoperative pathological specimens showed no residual tumor. Radical radiation therapy was resumed. The patient has shown no recurrence after an year. CONCLUSIONS: It is important to consult a soft tissue oncologist for tumors in the breast and perform appropriate examination and treatment if soft tissue tumors cannot be ruled out.


Assuntos
Neoplasias da Mama Masculina/cirurgia , Fibroma/cirurgia , Idoso , Neoplasias da Mama Masculina/diagnóstico por imagem , Neoplasias da Mama Masculina/patologia , Neoplasias da Mama Masculina/radioterapia , Progressão da Doença , Fibroma/diagnóstico por imagem , Fibroma/patologia , Fibroma/radioterapia , Humanos , Masculino , Recidiva Local de Neoplasia , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Doenças Raras , Tomografia Computadorizada por Raios X
5.
Can Assoc Radiol J ; 71(2): 161-173, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32063006

RESUMO

Imaging studies of the hands and fingers are common, and radiologists are generally comfortable with traumatic and degenerative conditions which arise frequently in daily practice. However, a variety of common and uncommon soft-tissue tumors also occur in the hand, the appropriate diagnosis of which can be a source of confusion for both clinicians and radiologists. These lesions often have overlapping imaging characteristics; however, a structured approach can help provide a focused differential diagnosis and impact further workup and management. We discuss several such tumors, categorizing them as cystic-appearing, noncystic masses along tendons and aponeuroses, adipocytic tumors, vascular lesions, and miscellaneous lesions with imaging features that can aid diagnosis.


Assuntos
Fibroma/diagnóstico por imagem , Tumor de Células Gigantes de Bainha Tendinosa/diagnóstico por imagem , Tumor Glômico/diagnóstico por imagem , Lipoma/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Neurofibroma/diagnóstico por imagem , Sarcoma Sinovial/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico por imagem , Malformações Arteriovenosas/diagnóstico por imagem , Diagnóstico Diferencial , Cisto Epidérmico/diagnóstico por imagem , Fasciite/diagnóstico por imagem , Cistos Glanglionares/diagnóstico por imagem , Mãos , Humanos , Imagem por Ressonância Magnética , Radiografia , Cisto Sinovial/diagnóstico por imagem , Ultrassonografia
7.
Indian J Pathol Microbiol ; 63(Supplement): S53-S55, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32108629

RESUMO

Paratesticular tumours are relatively rare and mostly of the mesenchymal origin. Due to its rarity, general surgical pathologists might have limited experience on the diagnostic entities and relevant differential diagnoses related to mesenchymal paratesticular tumours. This may likely cause diagnostic difficulties in a daily pathology practice. Paratesticular liposarcoma is a highly heterogeneous tumour and may be misdiagnosed as a benign fibromatous lesion. Herein we present a case of well-differentiated paratesticular liposarcoma of the sclerosing type initially diagnosed as a fibrous pseudotumour. Main differential diagnostic considerations are highlighted.


Assuntos
Fibroma/diagnóstico por imagem , Neoplasias dos Genitais Masculinos/diagnóstico por imagem , Lipossarcoma/diagnóstico por imagem , Neoplasias Testiculares/diagnóstico por imagem , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Erros de Diagnóstico , Evolução Fatal , Humanos , Masculino , Orquiectomia , Neoplasias Testiculares/patologia , Tomografia Computadorizada por Raios X
9.
BMC Musculoskelet Disord ; 21(1): 16, 2020 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-31914985

RESUMO

BACKGROUND: Elastofibroma is a benign soft tissue tumor characterized by the presence of elastic fibers in a stroma of collagen and mature adipose tissue. It is reported to have a prevalence of 2.73%, as shown by a study through computed tomography (CT) images. However, multiple elastofibromas are uncommon. CASE PRESENTATION: We report a case of concomitant bilateral elastofibroma in the infrascapular and gluteal regions. A 63-year-old male patient presented with a 6-month history of gradually increasing painless swellings in the upper back. On physical examination, firm, painless bilateral infrascapular masses were identified; these masses were more noticeable on forward arm flexion. Contrast-enhanced computed tomography showed well-defined bilateral infrascapular masses deep to the serratus anterior muscles as well as poorly defined bilateral gluteal masses with attenuation similar to that of the adjacent skeletal muscle. Magnetic resonance imaging revealed heterogenous masses with internal fatty streaks, consistent with elastofibroma. The histopathological diagnosis of elastofibroma was established based on the results of image-guided core-needle biopsy. The patient underwent surgical excision of both infrascapular elastofibromas with no post-operative complications. As the gluteal masses were incidental, surgical management was not warranted. CONCLUSION: The presence of multiple elastofibromas is unusual. This report describes a rare case of multiple elastofibromas and its typical imaging features, and alerts us that elastofibromas are not exclusive to the periscapular region.


Assuntos
Nádegas , Fibroma , Escápula , Neoplasias de Tecidos Moles , Nádegas/diagnóstico por imagem , Nádegas/patologia , Fibroma/diagnóstico por imagem , Fibroma/patologia , Fibroma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Escápula/diagnóstico por imagem , Escápula/patologia , Escápula/cirurgia , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/cirurgia , Resultado do Tratamento
12.
BMC Musculoskelet Disord ; 21(1): 53, 2020 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-31996205

RESUMO

BACKGROUND: Chondromyxoid fibroma-like osteosarcoma (CMF-OS) is an exceedingly rare subtype of low-grade central osteosarcoma (LGCO), accounting for up to 10% of cases and making it difficult to diagnose. CMF-OS is frequently misdiagnosed on a radiological examination and biopsy, even after the initial operation. Its treatment is a controversial issue due to its low-grade classification and actual high-grade behavior. CASE PRESENTATION: We retrospectively reviewed the medical charts of more than 2000 osteosarcoma patients between 2008 and 2019; 11 patients with CMF-OS were identified, of which six patients were treated by our institution with complete clinical characteristics, including treatment and prognosis, radiological and pathological features were reviewed. Three males and three females with a median age of 46 (range 22-56) years were pathologically proven to have CMF-OS. The radiological presentation of CMF-OS is variable, thus radiological misdiagnoses are common. However, one must not ignore a malignant radiologic appearance. The most distinctive pathological feature conferring the diagnosis of CMF-OS is the presence of osteoid production directly by the tumor cells under a chondromyxoid fibroma (CMF)-like background. Differential diagnoses based on comprehensive data from CMF, LGCO, chondrosarcoma (CHS), conventional osteosarcoma (COS), etc., are needed. All patients were treated with an operation and chemotherapy, and one patient received additional radiotherapy. Nevertheless, recurrence and metastasis are common in CMF-OS patients. Relatively invasive biological behavior of CMF-OS is against the low-grade classification of this disease. CONCLUSIONS: It is important to recognize CMF-OS and distinguish it from CMF, CHS, COS and other LGCOs. CMF-OS has a relatively poor prognosis despite its low-grade classification.


Assuntos
Neoplasias Ósseas/diagnóstico por imagem , Condrossarcoma/diagnóstico por imagem , Fibroma/diagnóstico por imagem , Osteossarcoma/diagnóstico por imagem , Adulto , Neoplasias Ósseas/cirurgia , Condrossarcoma/cirurgia , Feminino , Neoplasias Femorais/diagnóstico por imagem , Neoplasias Femorais/cirurgia , Fibroma/cirurgia , Humanos , Masculino , Mandíbula/diagnóstico por imagem , Mandíbula/cirurgia , Maxila/diagnóstico por imagem , Maxila/cirurgia , Ossos do Metatarso/diagnóstico por imagem , Ossos do Metatarso/cirurgia , Pessoa de Meia-Idade , Osteossarcoma/cirurgia , Estudos Retrospectivos , Costelas/diagnóstico por imagem , Costelas/cirurgia , Adulto Jovem
14.
J Pediatr Orthop ; 40(2): e149-e154, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31181027

RESUMO

BACKGROUND: Nonossifying fibroma (NOF) is the most common benign osseous lesion in children; however, our understanding of which lesions progress to a fracture remains unclear. In this study, we seek to formulate a classification system for NOFs to assess for fracture risk and determine what this classification system tells us regarding fracture risk of the distal tibia and distal femur NOFs. METHODS: Charts were retrospectively reviewed for patients with NOFs. A 4-point criteria was created and used to calculate fracture risk for distal tibia and distal femur NOFs. The analysis included incidence, specificity, and sensitivity. RESULTS: One point was given for each of the following findings on computed tomography (CT) scan: (1) >50% width on coronal view; (2) >50% width on sagittal view; (3) any cortical breach; (4) lack of a neocortex. In total, 34 patients with NOFs of the distal tibia had CT scans, of which 14 fractured. Zero with a 0- or 1-point score fractured, 2 with a 2-point score fractured (20%), 4 with a 3-point score fractured (44%), and 8 with a 4-point score fractured (100%). Sensitivities of 1-, 2-, 3-, and 4-point scores were 100%, 100%, 85.7%, and 57.1%, respectively, and specificities were 71.4%, 71.4%, 80%, and 100%, respectively. A total of 41 patients with NOFs of the distal femur had CT scans, of which 5 fractured. Zero with a 0-point score fractured, 1 with a 1-point score fractured (4%), 0 with a 2-point score fractured, 1 with a 3-point score fractured (20%), and 3 with a 4-point score fractured (100%). Sensitivities of 1-, 2-, 3-, and 4-point scores were 100%, 80%, 80%, and 60%, respectively; and specificities were 60%, 87.8%, 90%, and 100%, respectively. CONCLUSIONS: Our 4-point CT criteria is easy to apply and identifies patients at high risk of fracture, helping surgeons make decisions regarding treatment. LEVEL OF EVIDENCE: Level IV-prognostic study.


Assuntos
Neoplasias Ósseas/classificação , Fraturas do Fêmur/etiologia , Fibroma/classificação , Fraturas Espontâneas/etiologia , Fraturas da Tíbia/etiologia , Adolescente , Neoplasias Ósseas/complicações , Neoplasias Ósseas/diagnóstico por imagem , Criança , Feminino , Fibroma/complicações , Fibroma/diagnóstico por imagem , Humanos , Masculino , Estudos Retrospectivos , Medição de Risco/métodos , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X
15.
Rofo ; 192(5): 448-457, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31622987

RESUMO

PURPOSE: To analyze the appearance of primary and recurrent aggressive fibromatosis (AF) on MRI with a focus on configuration and to determine potential risk factors for recurrences detected on MRI follow-up scans. METHODS: From 79 consecutive patients with histologically proven diagnosis of AF, 39 patients underwent a minimum of four 1.5 T MRI follow-up scans after resection of primary AF between 2008 and 2018. The primary and recurrent tumors were radiographically examined for configuration, limitation and extent on MRI. Epidemiological data and loco-regional subcutaneous edema, muscle edema and post-operative seroma were included. RESULTS: The mean age of the patients was 39 ±â€Š2.6 years. Primary and recurrent AF most often occurred in the thigh. The main appearance of primary AF was significantly most often fascicular (p = 0.001-0.01) with heterogeneous and marked contrast enhancement. 21 % (n = 8) of the patients developed recurrences of AF. A fascicular configuration with homogeneous/heterogeneous contrast enhancement was the main appearance of recurrent AF, but recurrent AF appeared nodular, polycyclic, ovoid or streaky/flat as well. Recurrent AF significantly most often occurred within the first 9 months after primary tumor resection (p = 0.009), especially in patients up to 25 years of age (RR = 6.1; 95 % CI: 1.8-20.9; p = 0.004). The cases of recurrent AF were altogether significantly smaller than the primary tumors (p = 0.001). Post-treatment subcutaneous and muscle edema were present in 77 % and 56 %, respectively. Patients with muscle edema after primary tumor resection had a significantly higher risk for AF recurrences (relative risk ratio (RR) = 1.8; 95 % CI: 1.16-2.8; p = 0.0096). There was no significant difference detected in patients with complete or incomplete resection of the primary tumor. CONCLUSION: Primary and recurrent aggressive fibromatosis has a mostly fascicular configuration, but may appear ovoid, nodular, streaky/flat or polycyclic as well. High risks for tumor recurrences are detected for patients up to 25 years of age, patients within the first 9 post-operative months and patients with muscle edema after primary tumor resection. KEY POINTS: · Primary aggressive fibromatosis mostly has a fascicular configuration with heterogeneous contrast enhancement. · Recurrent aggressive fibromatosis usually has a fascicular configuration with heterogeneous/homogeneous contrast enhancement. · Patients within the first 9 post-operative months and up to 25 years of age have a significantly higher risk for recurrences. · Muscle edema after resection of primary aggressive fibromatosis is associated with a significantly higher risk for recurrences. CITATION FORMAT: · Sedaghat S, Surov A, Krohn S et al. Configuration of Primary and Recurrent Aggressive Fibromatosis on Contrast-Enhanced MRI with an Evaluation of Potential Risk Factors for Recurrences in MRI Follow-Up. Fortschr Röntgenstr 2020; 192: 448 - 457.


Assuntos
Meios de Contraste , Fibroma/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Adulto , Feminino , Fibroma/cirurgia , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Fatores de Risco , Coxa da Perna/diagnóstico por imagem , Coxa da Perna/cirurgia
16.
Pan Afr Med J ; 37: 370, 2020.
Artigo em Francês | MEDLINE | ID: mdl-33796183

RESUMO

Fibratosis colli, or infantile pseudotumor of the sternocleidomastoid muscle, is a rare cause of benign cervical mass in newborns and infants. This study involved all patients admitted with cervical swelling and diagnosed with colli fibromatosis from March 2016 to February 2020. Five patients were retained. In all patients cervical swelling occurred in the first month of life. No patient had had obstetric trauma. The diagnosis of fibromatosis colli was based on ultrasound. All patients received medical treatment. Fibratosis colli is a relatively rare cause of cervical mass in newborns and infants.


Assuntos
Fibroma/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias Musculares/diagnóstico por imagem , Músculos do Pescoço/diagnóstico por imagem , Feminino , Fibroma/patologia , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Lactente , Masculino , Neoplasias Musculares/patologia , Músculos do Pescoço/patologia , Ultrassonografia
18.
Rev. iberoam. fertil. reprod. hum ; 36(4): 3-12, oct.-dic. 2019. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-188040

RESUMO

Se reporta el caso de paciente de 26 años de edad de bajos recursos que acudió a consulta por dolor abdominal de 6 meses de evolución, progresivo, sin llegar a ser incapacitante; y amenorrea de 4 meses. US: tumoración de 20 cm de diámetro, bordes regulares, lisos, sin trabeculaciones ni excrescencias. Hipoestrogenismo y LH anormalmente elevada. No ascitis ni derrames. Quirúrgicamente se encontró tumoración de 20 cm con trabéculas gruesas, dependiente de ovario izquierdo con cápsula perforada (sin infiltración por células tumorales). Histopatología reportó tumor de cordones sexuales tipo fibroma con marcadores de inmunohistoquímica positivos para WT-1 e inhibina y negativos para CD99 y actina de músculo liso. Los fibromas ováricos con degeneración quística extensa son la excepción a la regla de que los componentes sólidos o trabéculas en una masa quística implican malignidad. Después de la cirugía, el estradiol y las gonadotropinas volvieron a niveles normales


The case is reported of a 26 year old patient with limited resources who visited a physician due to abdominal pain of 6 months evolution, progressive, without becoming disabling; and 4 months of amenorrhea. US: growth of 20 cm in diameter, with regular edges, smooth, without trabeculations or excrescences. Hypoestrogenism and abnormally high LH. No ascites or effusions. Surgery found a growth of 20 cm with thick trabeculae, dependent on left ovary with perforated capsule (without infiltration by tumour cells). Histopathology reported a fibroma-type sex cord tumour with positive immunohystochemical markers for WT-1 and inhibin and negative markers for CD99 and smooth muscle actin. Ovarian fibromas with extensive cystic degeneration are the exception to the rule that solid components or trabeculae in a cystic mass imply malignancy. Post-surgery, estradiol and gonadotropin returned to normal levels


Assuntos
Humanos , Adulto , Feminino , Fibroma/diagnóstico por imagem , Neoplasias Ovarianas/diagnóstico por imagem , Tumores do Estroma Gonadal e dos Cordões Sexuais/diagnóstico por imagem , Fibroma/patologia , Fibroma/cirurgia , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/cirurgia , Amenorreia/complicações , Tumores do Estroma Gonadal e dos Cordões Sexuais/complicações , Tumores do Estroma Gonadal e dos Cordões Sexuais/patologia , Imuno-Histoquímica
20.
Chirurgia (Bucur) ; 114(5): 664-667, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31670643

RESUMO

Fibromatosis is a benign lesion of the breast that can rarely occur in men, and requires good imaging and biopsy to make a differential diagnosis to breast carcinoma. Primary breast fibromatosis predominately affects females but can rarely affect the male breast (1,2). Due toits rarity, the condition has often been confused with breast carcinoma. Significant variability has been reported regarding imaging characteristics of fibromatosis using ultrasound and MRI. MRI is particularly useful in the evaluation of tumor extent and preoperative planning (3). We report the case of a 66-year old male who presented with a palpable mass within the external quadrant of his right breast. Ultrasound-guided core needle biopsy revealed diagnosis of fibromatosis. Follow-up performed 11 months after resection demonstrated no radiographic evidence of recurrence.


Assuntos
Neoplasias da Mama Masculina/patologia , Mama/patologia , Fibroma/patologia , Idoso , Biópsia com Agulha de Grande Calibre , Mama/diagnóstico por imagem , Neoplasias da Mama Masculina/diagnóstico por imagem , Fibroma/diagnóstico por imagem , Humanos , Biópsia Guiada por Imagem , Masculino , Resultado do Tratamento , Ultrassonografia Mamária
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