U cơ vân ngoài thận ác tính biểu hiện tại vùng mặt ở trẻ sơ sinh

2021 ◽  
Author(s):  
Hong Loi Nguyen
Keyword(s):  
Clinical Features ◽  
Treatment Options ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Imaging Findings ◽  
Lower Lip ◽  
Facial Region ◽  
Diagnostic Approaches ◽  
Rhabdoid Tumors ◽  
Initial Results

TÓM TẮT U cơ vân ác tính ngoài thận rất hiếm gặp ở trẻ sơ sinh. Chúng tôi báo cáo trường hợp u cơ vân ác tính biểu hiện vùng môi dưới - cằm xuất hiện từ sau sinh ở một trẻ gái. Khối u tăng nhanh về kích thước cho đến thời điểm nhập viện trẻ 2 tháng tuổi. Với kết quả chẩn đoán hình ảnh gợi ý khối u ác tính, sinh thiết được chỉ định với kết quả hóa mô miễn dịch mất biểu hiện gen INI1, hình ảnh u cơ vân ác tính ngoài thận. Sau khi thảo luận đa chuyên khoa, trẻ được chỉ định hóa trị và kết quả bước đầu cho thấy khối u có xu hướng nhỏ lại. Qua trường hợp này, chúng tôi thảo luận về đặc điểm dịch tễ học, lâm sàng, tiếp cận chẩn đoán và lựa chọn phương pháp điều trị cho u cơ vân ác tính ngoài thận biểu hiện tại vùng mặt. Từ khóa: U cơ vân, ác tính, ngoài thận, vùng mặt. ABSTRACT EXTRARENAL MALIGNANT RHABDOID TUMORS PRESENTING WITH A FACIAL TUMOR IN A NEONATE Malignant rhabdoid tumor (MRT) are very rare in neonates. We report a case of MRT presenting in the lower lip - chin region after birth in a girl. The tumor’s size increased rapidly until the time of hospitalization, when the child was 2 - month - old. With imaging findings suggestive of malignancy, biopsy was indicated with immunohistochemistry with loss of INI1 expression, imaging of MRT. After multidisciplinary consultations, the child was prescribed chemotherapy and the initial results showed that the tumor tended to minimize. Through this case, we discuss the epidemiological, clinical features, diagnostic approaches and treatment options for MRT in the facial region.

scholarly journals Malignant Rhabdoid Tumor of the Adrenal Gland: Case Report and Review of the Literature

2019 ◽  
pp. 1-3
Author(s):  
Tamadur Mahasneh ◽  
Ali Al-Daghmin ◽  
Khloud Al-Qasem ◽  
Sayel H. Zraikat ◽  
Sohaib Alhamss
Keyword(s):  
Adrenal Gland ◽  
Treatment Options ◽  
Rhabdoid Tumor ◽  
Surgical Removal ◽  
Malignant Rhabdoid Tumor ◽  
Rhabdoid Tumors ◽  
Multimodality Approach ◽  
Radio Chemotherapy ◽  
Neoadjuvant Radio Chemotherapy ◽  
Universal Treatment

Malignant rhabdoid tumor was first thought to be a subtype of wilm’s tumor, which was later disproven by Haas et al. and was categorized as a separate entity. Malignant rhabdoid tumors are mainly present in the kidneys of children, however, cases of extra renal malignant rhabdoid tumor were reported in the literature. In this report we describe a case of extra renal malignant rhabdoid tumor in the adrenal gland. Malignant rhabdoid tumor is a highly aggressive neoplasm with very poor prognosis. Due to the rarity of the disease, no universal treatment regimen has been developed yet, where treatment options include the surgical removal of the tumor, chemotherapy, radiotherapy, or a multimodality approach of management. In this report we present a case of 21-year-old lady with MRT in the adrenal gland, who had neoadjuvant radio-chemotherapy followed by laparoscopic adrenalectomy.

Epithelioid Sarcoma Arising in a Long-Term Survivor of an Atypical Teratoid/Rhabdoid Tumor in a Patient With Rhabdoid Tumor Predisposition Syndrome

2021 ◽  
pp. 109352662098649
Author(s):  
Tiffany G Baker ◽  
Michael J Lyons ◽  
Lee Leddy ◽  
David M Parham ◽  
Cynthia T Welsh
Keyword(s):  
Epithelioid Sarcoma ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Diagnostic Challenge ◽  
Patient Demographics ◽  
Immunohistochemical Markers ◽  
Genetic Aberration ◽  
Atypical Teratoid ◽  
Rhabdoid Tumors

Rhabdoid tumor predisposition syndrome (RTPS) is defined as the presence of a SMARCB1 or SMARCA4 genetic aberration in a patient with malignant rhabdoid tumor. Patients with RTPS are more likely to present with synchronous or metachronous rhabdoid tumors. Based on the current state of rhabdoid tumor taxonomy, these diagnoses are based largely on patient demographics, anatomic location of disease, and immunohistochemistry, despite their nearly identical histologic and immunohistochemical profiles. Thus, the true distinction between such tumors remains a diagnostic challenge. Central nervous system atypical teratoid/rhabdoid tumor (AT/RT) is a rare, aggressive, primarily pediatric malignancy with variable histologic features and a well documented association with loss of SMARCB1 expression. Epithelioid sarcoma (ES) is a rare soft tissue tumor arising in patients of all ages and characteristically staining for both mesenchymal and epithelial immunohistochemical markers while usually demonstrating loss of SMARCB1 expression. To our knowledge we herein present the first documented case of a patient with RTPS who presented with metachronous AT/RT and ES.

Malignant Rhabdoid Tumor of the Kidney in an Adult: A Case Report and Review of the Literature

2003 ◽  
Vol 127 (9) ◽  
pp. e371-e373 ◽  
Author(s):  
Hong Qi Peng ◽  
Albert E. Stanek ◽  
Saul Teichberg ◽  
Barry Shepard ◽  
Ellen Kahn
Keyword(s):  
Case Report ◽  
Aggressive Behavior ◽  
Poor Prognosis ◽  
Renal Tumor ◽  
Adult Population ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Review Of The Literature ◽  
Electron Microscopic ◽  
Rhabdoid Tumors

Abstract Malignant rhabdoid tumor of the kidney is an uncommon renal tumor in children. The tumor has aggressive behavior and a poor prognosis and is extremely rare in adults; only 3 cases of renal rhabdoid tumors have been reported in adults. We describe here the microscopic, immunohistochemical, and electron microscopic characteristics of another case in a 38-year-old woman. This case reinforces the importance of recognizing this entity in the adult population.

scholarly journals ATRT-21. RHABDOID PREDISPOSITION SYNDROME: REPORT OF MOLECULAR PROFILES AND TREATMENT APPROACH IN THREE CHILDREN WITH SYNCHRONOUS ATYPICAL TERATOID/RHABDOID TUMOR AND MALIGNANT RHABDOID TUMOR

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii280-iii280
Author(s):  
Margaret Shatara ◽  
Ajay Gupta ◽  
Mohamed H Abu Arja ◽  
Suzanne E Conley ◽  
Priyal Patel ◽  
...  
Keyword(s):  
Molecular Profiling ◽  
Rhabdoid Tumor ◽  
The Other ◽  
Hematopoietic Progenitor Cell ◽  
Induction Phase ◽  
Malignant Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Consolidation Phase ◽  
Atypical Teratoid ◽  
Rhabdoid Tumors

Abstract BACKGROUND Rhabdoid predisposition syndrome is characterized by germline alterations in SMARCB1 or SMARCA4, leading to synchronous or metachronous central nervous system (CNS) and extra-CNS rhabdoid tumors. Rare survivors have been reported to date. METHODS We describe the molecular profiling and treatment regimen of three patients with synchronous atypical teratoid/rhabdoid tumor (ATRT) and malignant rhabdoid tumor of the kidney (MRT-K). All patients underwent radical nephrectomy of the kidney, and gross total resection of the primary CNS tumor was achieved for two patients. An intensive chemotherapy regimen was administered; an induction phase based on the modified Third Intergroup Rhabdomyosarcoma Study (IRS-III) for ATRT followed by a consolidation phase with three cycles of high-dose chemotherapy and autologous hematopoietic progenitor cell rescue, without irradiation. All three patients were enrolled on an institutional comprehensive genomic profiling protocol. RESULTS A germline focal 22q deletion, including SMARCB1, was detected in two patients, while the third patient had a maternally-inherited heterozygous frameshift variant in SMARCB1. Somatic loss of heterozygosity of 22q was identified in all patients, resulting in biallelic inactivation of SMARCB1. Divergent tumor subgroups were described using DNA methylation. The three MRT-K samples were classified as MYC subtype. One ATRT was classified as SHH while the other as TYR. One patient is currently three years off-therapy without evidence of disease, while the other two patients have completed the consolidation phase without recurrent disease. CONCLUSION Molecular profiling of CNS and extra-CNS rhabdoid tumors revealed different epigenetic subgroups. An intensive multimodal therapeutic approach without irradiation may achieve prolonged survival.

scholarly journals Esophageal Rhabdoid-Like Tumor: A Rare Disease With Aggressive Clinical Behavior

2020 ◽  
Vol 7 ◽  
Author(s):  
Andrea Lovece ◽  
Daniele Bernardi ◽  
Barbara Bruni ◽  
Emanuele Asti ◽  
Claudio Clemente ◽  
...  
Keyword(s):  
Minimally Invasive ◽  
Minimally Invasive Esophagectomy ◽  
Rhabdoid Tumor ◽  
Esophageal Wall ◽  
Malignant Rhabdoid Tumor ◽  
Clinical Behavior ◽  
Invasive Esophagectomy ◽  
Poorly Differentiated ◽  
Rhabdoid Tumors ◽  
Aggressive Clinical Behavior

Background: Malignant rhabdoid tumor is a kidney childhood tumor with aggressive clinical behavior and a wide spectrum of histologic, immunophenotypic, and cytogenetic findings. Extra-renal rhabdoid tumors have been reported in the brain, breast, liver, pancreas, bladder, vulva, prostate, and colon. To date, only nine cases of esophageal rhabdoid tumors have been described, all in patients over 50-year old. We add to the current literature the case of an esophageal, poorly differentiated rhabdoid tumor occurring in a young man.Case Report: A 24-year-old man was referred for progressive dysphagia, retrosternal pain, nausea, and food regurgitation. Esophagogastroduodenoscopy showed an obstructing neoplastic lesion of the distal esophagus associated with Barrett's esophagus. Biopsies revealed undifferentiated esophageal cancer with epithelial morphology and immunohistochemistry positive for CK pan, CK 7 e CK 8-18. Minimally invasive esophagectomy and extended lymphadenectomy was performed. Histopathology showed a poorly differentiated tumor, with morphologic characteristics of rhabdoid tumor, central necrosis and transmural infiltration of the esophageal wall. Definitive immunohistochemistry was positive for vimentin, CD34, synaptophysin, and INI1.Conclusion: Esophageal rhabdoid tumor is extremely rare and highly aggressive, with only few patients alive at 1 year follow-up, according to our review. Immunohistochemistry characterization is critical for diagnosis. Minimally invasive esophagectomy is an appealing and possibly less morbid option compared to open surgery. However, further research is needed to investigate the potential role of targeted immunotherapy.

Malignant Rhabdoid Tumor in a Pregnant Adult Female: Literature Review of Central Nervous System Rhabdoid Tumors

2005 ◽  
Vol 74 (3) ◽  
pp. 311-319 ◽  
Author(s):  
Michelle L. Erickson ◽  
Randall Johnson ◽  
Serguei I. Bannykh ◽  
Alain de Lotbiniere ◽  
Jung H. Kim
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Literature Review ◽  
Adult Female ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Rhabdoid Tumors

Malignant Rhabdoid Tumor Mimicking Hepatoblastoma: A Case Report and Literature Review

2007 ◽  
Vol 10 (5) ◽  
pp. 409-415 ◽  
Author(s):  
Lars M. Wagner ◽  
Jennifer K. Garrett ◽  
Edgar T. Ballard ◽  
D. Ashley Hill ◽  
Arie Perry ◽  
...  
Keyword(s):  
Case Report ◽  
Liver Tumors ◽  
Correct Diagnosis ◽  
Rhabdoid Tumor ◽  
Molecular Techniques ◽  
Malignant Rhabdoid Tumor ◽  
Primary Liver Tumors ◽  
Diagnostic Confusion ◽  
Rhabdoid Tumors ◽  
Tumor Types

Hepatoblastoma accounts for the vast majority of malignant primary liver tumors in infancy. In contrast, rhabdoid tumors arising in the liver are extremely rare, but they can share clinical and histologic features with hepatoblastoma and can create diagnostic confusion, especially when one is dealing with small biopsies. In this case report we demonstrate that immunohistochemical and molecular techniques can identify the characteristic loss of INI1 and facilitate making the correct diagnosis of primary hepatic malignant rhabdoid tumor. Important similarities and differences between hepatoblastoma and rhabdoid tumors are reviewed, and suggestions are offered to help distinguish these 2 tumor types.

scholarly journals Targeted endovascular treatment of haemorrhagic posterior fossa proliferative angiopathy

2018 ◽  
Vol 24 (4) ◽  
pp. 440-443 ◽  
Author(s):  
Suresh Giragani ◽  
Santhosh Kumar Pavunesan ◽  
Anandh Balasubramaniam
Keyword(s):  
Endovascular Treatment ◽  
Posterior Fossa ◽  
Clinical Features ◽  
Arteriovenous Malformations ◽  
Treatment Options ◽  
Focal Lesion ◽  
Imaging Findings ◽  
Endovascular Management ◽  
Vascular Abnormality

Cerebral proliferative angiopathy (CPA) is a rare vascular abnormality and separate from “classical” brain arteriovenous malformations. Haemorrhage due to proliferative angiopathy is rarely reported. We describe the clinical features, imaging findings and targeted endovascular management for a 12-year-old boy having proliferative angiopathy of the posterior fossa presenting with haemorrhage. Targeted endovascular embolisation in CPA is not previously described in the literature. The optimal treatment options for haemorrhagic CPA are debatable, and we wish to highlight the role of targeted treatment for culprit focal lesion demonstrable on imaging.

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