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1.
Trop Doct ; 50(4): 380-383, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32646292

RESUMO

Amyand's hernia describes the presence of an appendix within the sac of an inguinal hernia. Both an inflamed and non-inflamed appendix within the hernia sac have been reported in the literature with various recommendations on approach to management. However, a tumour of the appendix is a rare finding in an Amyand's hernia. We hereby report the unusual presentation of a fibroma of the appendix complicating the rare Amyand's hernia in a young man with a scrotal mass.


Assuntos
Apêndice/patologia , Fibroma/diagnóstico , Hérnia Inguinal/diagnóstico , Testículo/anormalidades , Adulto , Apêndice/diagnóstico por imagem , Diagnóstico Diferencial , Fibroma/complicações , Fibroma/patologia , Hérnia Inguinal/complicações , Hérnia Inguinal/patologia , Humanos , Masculino , Escroto/diagnóstico por imagem , Escroto/patologia
2.
J Card Surg ; 35(8): 1912-1919, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32652694

RESUMO

BACKGROUNDS: Disparities may exist between the adolescent and the adult patients with cardiac fibromas in the symptoms, surgical outcomes, and pathological characteristics. The aim of this study was to compare short and midterm surgical outcomes of cardiac fibromas and to compare the biomarker expressions of tumor tissue samples between the adult and the adolescent. METHODS: Consecutive patients with the diagnosis of cardiac fibroma were admitted and received surgeries. Primary outcomes included in-hospital mortality, low cardiac output, and readmission due to heart failure. The expression of PCNA and Ki67, two widely adopted indicators of cell proliferation, were evaluated in tissue samples. RESULTS: A total of five adolescent patients and five adult patients diagnosed as cardiac fibroma were admitted and given surgeries. When compare with the adults, the adolescent patients were more likely to present symptoms on admission (P = .048). Postoperative low cardiac output syndrome was significantly higher in the adolescents than in the adults (80.0% vs 0.0, P = .048). The tumor volume relative to ventricular end diastolic diameter had good discriminative ability for low cardiac output (c statistics: 0.96). Pathologically, the percentage of PCNA-positive cell nuclei was significantly higher in the adolescents than in the adults (36.04% ± 10.54% vs 4.15% ± 3.93%, P = .001). However, there were no Ki67-positive nuclei in the 10 cases. CONCLUSIONS: In the current study, we found that postoperative low cardiac output was more likely to occur in the adolescent patients than in the adult patients. When compared with the adult patients, significantly more PCNA-positive nuclei were observed in the adolescents.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Fibroma/patologia , Fibroma/cirurgia , Neoplasias Cardíacas/patologia , Neoplasias Cardíacas/cirurgia , Adolescente , Adulto , Fatores Etários , Baixo Débito Cardíaco/epidemiologia , Proliferação de Células/genética , Feminino , Expressão Gênica , Humanos , Antígeno Ki-67/genética , Antígeno Ki-67/metabolismo , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Antígeno Nuclear de Célula em Proliferação/genética , Antígeno Nuclear de Célula em Proliferação/metabolismo , Resultado do Tratamento , Adulto Jovem
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
4.
Virchows Arch ; 477(3): 455-459, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32170450

RESUMO

Intravascular fasciitis (IVF) is considered a rare variant of nodular fasciitis, which often involves small- and medium-sized blood vessels. Approximately 43 cases of IVF have been reported in the English literature to date. Here, we report an IVF case arising from the common iliac vein of the pelvic cavity in a 19-year-old Chinese man. Histologically, the lesion was confined within the vascular lumen and consisted of regular myofibroblasts immersed in a fibromyxoid stroma. The tumor cells showed a USP6 rearrangement by fluorescence in situ hybridization but were negative for MYH9-USP6 fusion by reverse transcription polymerase chain reaction. Subsequent next-generation sequencing identified the CTNNB1-USP6 fusion. To the best of our knowledge, the vessel involved in this case is the largest vein among the reported cases. The present case might be the first example of a USP6-rearranged lesion in this entity, suggesting that IVF should be included in the USP6-induced family.


Assuntos
Fasciite/genética , Ubiquitina Tiolesterase/genética , beta Catenina/genética , Grupo com Ancestrais do Continente Asiático/genética , Fasciite/patologia , Fibroma/patologia , Rearranjo Gênico , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente , Masculino , Miofibroblastos/patologia , Proteínas Proto-Oncogênicas/genética , Ubiquitina Tiolesterase/metabolismo , Adulto Jovem , beta Catenina/metabolismo
5.
Diagn Pathol ; 15(1): 23, 2020 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-32164724

RESUMO

BACKGROUND: Low-grade fibromyxoid sarcoma (LGFMS) is a rare fibroblastic tumor often involving deep tissue of trunk and lower extremities in young to middle-aged patients. Rarely, LGFMS can occur in other sites including head and neck, chest, abdomen and female reproductive system. Three cases of LGFMS in mesentery of small intestine have been reported and all have conventional histologic features. Herein we reported a unique case of LGFMS in mesentery of small intestine. CASE PRESENTATION: A 43 year-old male with chief complaint of lower back pain for 4 years presented to our hospital. Physical exam reveal a firm, non-tender, non-distended, mobile large abdominal mass, which was shown on abdominal CT as a 10 cm retroperitoneal tumor. Biopsy revealed a spindle cell neoplasm in a myxoid background with a delicate vascular network. Tumor resection was performed. Gross examination of the resected specimen showed a 10.8 cm, tan-white, smooth, firm, lobulated mesenteric mass with bulging and gelatinous cut surface and confined within small bowel serosa. Microscopic examination demonstrated foci epithelioid cords and whorls with prominent atypia, in additional of regular, bland-appearing spindle cells in a fibrous and myxoid stroma and osseous metaplasia. The tumor cells stained diffusely positive for DOG1 with moderate staining density, and diffusely and strongly positive for MUC4. Rearrangement involving FUS (16p11.2) gene was identified with break-apart probe and confirmed by Anchored Multiplex PCR. A final diagnosis of low-grade fibromyxoid sarcoma was rendered. CONCLUSION: Our case highlights the importance of including LGFMS in the differential diagnosis of mesenteric tumors and the DOG1 positivity which could represent a potential diagnostic pitfall.


Assuntos
Anoctamina-1/metabolismo , Fibroma/patologia , Fibrossarcoma/patologia , Proteínas de Neoplasias/metabolismo , Neoplasias Retroperitoneais/patologia , Adulto , Biomarcadores Tumorais/análise , Fibroma/metabolismo , Fibrossarcoma/metabolismo , Rearranjo Gênico , Humanos , Intestino Delgado/patologia , Masculino , Mesentério/patologia , Proteína FUS de Ligação a RNA/genética , Neoplasias Retroperitoneais/metabolismo
6.
Am J Surg Pathol ; 44(5): 626-632, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32141886

RESUMO

Papillary fibroelastoma (PFE) is an increasingly recognized cardiac tumor. Despite its prevalence, controversy exists as to whether it represents a reactive or neoplastic process due to histopathologic similarities with Lambl excrescences (LEs), an accepted reactive phenomenon. Recently, KRAS mutations were reported in a small collection of PFEs, but the incidence of mutations and conditions in which they arise in are unknown. Furthermore, the relationship between PFE and LE has yet to be investigated. Institutional archives were queried for cases of PFE (2001-2017). Paraffin-embedded tissue was microdissected for tumor isolation. Prospectively identified LEs (2018) were collected and wholly isolated. Extracted DNA underwent droplet digital polymerase chain reaction analysis of the most common KRAS mutations (codons 12/13 and 61). Relevant clinical information was abstracted from the medical record. Fifty-two PFEs were tested from 50 patients (32 women). The median patient age was 67 years. Seventeen (33%) PFEs harbored pathogenic variants in tested KRAS codons (12 in codons 12/13; 5 in codon 61). Mutations were mutually exclusive. No clinical or pathologic correlates differed significantly from cases without detectable pathogenic variants. No pathogenic mutation were detected in LEs (n=20; P=0.002). Herein, we report on the largest series of PFE tested for KRAS mutations and present the largest cohort of KRAS-mutant PFEs to date, providing evidence in support of the notion that at least a subset of PFEs represents neoplasia. Moreover, the lack of KRAS mutations in LEs provides evidence as to the separate etiology of this accepted reactive lesion.


Assuntos
Biomarcadores Tumorais/genética , Fibroma/genética , Neoplasias Cardíacas/genética , Mutação , Músculos Papilares/patologia , Proteínas Proto-Oncogênicas p21(ras)/genética , Idoso , Análise Mutacional de DNA , Feminino , Fibroma/etiologia , Fibroma/patologia , Predisposição Genética para Doença , Neoplasias Cardíacas/etiologia , Neoplasias Cardíacas/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Fatores de Risco
7.
Diagn Pathol ; 15(1): 20, 2020 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-32127014

RESUMO

BACKGROUND: We report an unusual case of low-grade fibromatosis-like metaplastic carcinoma (LG-FLMC) of the breast. This exceedingly rare epithelial breast malignancy has been reported only 68 times in the past 20 years, and is classified as a subtype of metaplastic breast carcinoma (MBC). It is a locally aggressive tumor with a low potential for lymph node and distant metastases, but with a tendency to recur after excision. Here we describe a less common presentation of LG-FLMC, provide its molecular characterization, discuss the major differential diagnosis and bring a short review of the literature. CASE PRESENTATION: A 65-year-old woman presented with a self-palpated breast lump that had discordant radio-pathological features. While imaging results were compatible with an infiltrative malignancy, on core needle biopsy (CNB) a sharply delineated lesion composed by a bland-looking population of spindle cells was observed; excision was recommended for final diagnosis. Histology of the resection specimen showed small areas of epithelial differentiation and foci of peripheral invasion. Immunohistochemical analysis revealed a co-immunoreactivity for epithelial and myoepithelial markers in the spindle cell component. Mutation analysis with a capture-based next generation sequencing method revealed pathogenic mutations in GNAS, TERT-promotor and PIK3R1 genes. A diagnosis of LG-FLMC was rendered. CONCLUSION: This case highlights the importance of a broad differential diagnosis, exhaustive sampling and the use of a broad immunohistochemical panel whenever dealing with a low-grade spindle cell lesion in the breast, and provides further insights into the molecular background of LG-FLMC.


Assuntos
Neoplasias da Mama/patologia , Carcinoma/patologia , Fibroma/patologia , Metaplasia/patologia , Recidiva Local de Neoplasia/patologia , Idoso , Biomarcadores Tumorais/análise , Neoplasias da Mama/diagnóstico , Carcinoma/diagnóstico , Feminino , Humanos , Metaplasia/diagnóstico , Recidiva Local de Neoplasia/diagnóstico
8.
Turk Patoloji Derg ; 1(1): 268-274, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32149363

RESUMO

Lipofibromatosis is a recently recognized slow growing rare pediatric tumor. Paucity of its cytological description in the literature leads to its pre operative misdiagnosis and further incomplete management. A twelve-month-old female presented with a rapidly progressive mass in the right thigh and buttock region. On examination, the mass was huge and involved the medial, posterior and lateral aspects of the thigh. The cytological smears showed mature adipocytes with few spindled out cells. FNA was reported as a lipoma, corroborating with the radiological presumptive diagnosis. However, histopathological and immunohistochemical features favoured a diagnosis of Lipofibromatosis. The cytological smears were reviewed and a cyto-histo correlation was established. The diagnosis of Lipofibromatosis rests upon classical cytological features in a clinically and radiologically suggestive picture. An early and accurate diagnosis if established can help the surgeon plan excision with wider margins as incomplete excision is associated with a high rate of recurrence.


Assuntos
Fibroma/diagnóstico , Fibroma/patologia , Lipoma/diagnóstico , Lipoma/patologia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/patologia , Biópsia por Agulha Fina , Feminino , Humanos , Lactente
11.
Head Neck Pathol ; 14(1): 109-120, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31950467

RESUMO

This manuscript provides an overview of pleomorphic spindle cell tumors presenting on sun-damaged skin of the elderly and includes discussions of atypical fibroxanthoma, pleomorphic dermal sarcoma, spindle cell and metaplastic squamous cell carcinoma, spindle cell and dedifferentiated melanoma and poorly differentiated cutaneous angiosarcoma. These tumors share many of the clinical presenting and histological features, making confident diagnosis challenging. A reliable and robust diagnosis is necessary to predict behavior as the biologic potential of these tumors ranges from benign (e.g. atypical fibroxanthoma) to outright malignant with poor survival rates (e.g. cutaneous angiosarcoma). The salient clinical, histologic and immunohistochemical characteristics are discussed in detail with emphasis on distinguishing features and differential diagnosis to provide the reader with a better understanding of these entities and helpful clues for a more robust diagnosis.


Assuntos
Carcinoma de Células Escamosas/patologia , Fibroma/patologia , Hemangiossarcoma/patologia , Melanoma/patologia , Sarcoma/patologia , Neoplasias Cutâneas/patologia , Carcinoma de Células Escamosas/diagnóstico , Fibroma/diagnóstico , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/patologia , Hemangiossarcoma/diagnóstico , Humanos , Melanoma/diagnóstico , Sarcoma/diagnóstico , Neoplasias Cutâneas/diagnóstico
12.
Head Neck Pathol ; 14(1): 83-96, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31950468

RESUMO

Clinically, radiologically, and pathologically, chondroid neoplasms of the skull can be diagnostically challenging due to overlapping features in each of these domains. Compounding the problem for the pathologist, there is also significant morphologic, immunophenotypic, and molecular genetic overlap between benign and malignant cartilaginous lesions, and the majority of these lesions are encountered quite rarely in routine surgical pathology practice. Each of these factors contribute to the diagnostic difficulty posed by these lesions, highlighting the importance of radiologic-pathologic correlation in the diagnosis. This review is intended to provide an update for surgical pathologists on some of the most commonly encountered chondroid neoplasms in the skull, and includes the following lesions: chondromyxoid fibroma, synovial chondromatosis, chondrosarcoma and variants, and chordoma and variants. For each of these lesions, the differential diagnosis and useful ancillary tests will be discussed in the context of a broad range of additional primary and secondary lesions.


Assuntos
Condromatose Sinovial/patologia , Condrossarcoma/patologia , Cordoma/patologia , Fibroma/patologia , Neoplasias Cranianas/patologia , Humanos
13.
Monaldi Arch Chest Dis ; 90(1)2020 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-31970967

RESUMO

Elastofibroma is a rare benign, soft-tissue slow-growing tumor seen predominantly in elderly females. We present such a case in a 46-year-old female. She presented with gradually increasing soft tissue swelling of 8×6 cm in the right inferior subscapular region. MRI showed a large intramuscular lesion with atypia. She underwent excisional biopsy and the histopathology and immunochemistry showed elastofibroma. We present this rare case to emphasize the important role of the diagnostic tools. A definitive diagnosis helps to avoid unnecessary wide and radical resection.


Assuntos
Fibroma/patologia , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/cirurgia , Parede Torácica/patologia , Biópsia , Edema/patologia , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Neoplasias de Tecidos Moles/metabolismo , Resultado do Tratamento
16.
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
17.
Ann Diagn Pathol ; 44: 151453, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31864161

RESUMO

Plexiform angiomyxoma (PF) is a rare benign mesenchymal neoplasm that arises in the antrum and pyloric region of the stomach. To the best of our knowledge, there are only two prior endoscopic ultrasound guided fine needle aspiration cytology examples have been reported. We report a case of PF which was diagnosed via EUS FNA and later confirmed on resection specimen. Differential diagnoses of this tumor are discussed. Although diagnosis of plexiform fibromyxoma on FNA specimen is difficult, a good FNA specimen with subsequent careful morphological evaluation and immunohistochemical staining work-up makes this task possible.


Assuntos
Diagnóstico Diferencial , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/métodos , Fibroma/diagnóstico , Fibroma/patologia , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patologia , Adulto , Feminino , Humanos , Mixoma/diagnóstico , Mixoma/patologia
19.
In Vivo ; 34(1): 239-245, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31882484

RESUMO

BACKGROUND: Low-grade fibromyxoid sarcoma (LGFMS) is a rare sarcoma subtype with a generally indolent pattern of clinical behaviour, but treatments for advanced disease are limited. PATIENTS AND METHODS: A retrospective search of a prospectively maintained institutional database identified 102 patients treated from December 1994 to August 2018. We evaluated the outcome of patients and the efficacy and safety of non-surgical therapies in LGFMS. RESULTS: Ninety-four out of 102 (92.2%) underwent primary resection, seven (6.9%) were treated with systemic therapy and one (1.0%) is currently being treated with pre-operative radiotherapy. The RECIST 1.1 response rate to first-line chemotherapy was 0%, and median progression-free survival was 1.84 months (95% confidence intervaI=0.10-3.6 months). CONCLUSION: Conventional systemic therapy has limited efficacy in advanced LGFMS.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Fibroma/tratamento farmacológico , Fibrossarcoma/tratamento farmacológico , Adulto , Terapia Combinada , Feminino , Fibroma/patologia , Fibroma/terapia , Fibrossarcoma/patologia , Fibrossarcoma/terapia , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Estudos Prospectivos , Estudos Retrospectivos , Taxa de Sobrevida
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