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2.
Mol Genet Genomic Med ; 12(3): e2403, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38439608

RESUMO

BACKGROUND: Tuberous sclerosis complex (TSC), an autosomal-dominant disorder, is characterized by hamartomas affecting multiple organ systems. The underlying etiology of TSC is the pathogenic variations of the TSC1 or TSC2 genes. The phenotype variability of TSC could lead to missed diagnosis; therefore, the latest molecular diagnostic criteria for identifying a heterozygous pathogenic variant in either the TSC1 or TSC2 gene filled this gap. Furthermore, the pathogenicity of numerous variants remains unverified, potentially leading to misinterpretations of their functional consequences. METHODS: In this study, a single patient presenting with atypical vitiligo-like skin lesions suspected to have TSC was enrolled. Targeted next-generation sequencing and Sanger sequencing were employed to identify a pathogenic variant. Additionally, a minigene splicing assay was conducted to assess the impact of TSC1 c.1030-2A>T, located in intron 10, on RNA splicing. RESULTS: A novel TSC1: c.1030-2A>T heterozygosis variant was identified in intron 10. In vitro minigene assay revealed that the c.1030-2A>T variant caused exon 11 skipping, resulting in a frameshift in the absence of 112 base pairs of mature messenger RNA and premature termination after 174 base pairs (p.Ala344Glnfs*59). CONCLUSION: The detection of this novel pathogenic TSC1 variant in the patient with atypical vitiligo-like skin lesions enrolled in our study ultimately resulted in the diagnosis of TSC. As a result, our study contributes to expanding the mutational spectrum of the TSC1 gene and refining the genotype-phenotype map of TSC.


Assuntos
Hamartoma , Esclerose Tuberosa , Vitiligo , Humanos , Mutação da Fase de Leitura , Íntrons , Esclerose Tuberosa/genética , Vitiligo/genética
3.
Zhonghua Gan Zang Bing Za Zhi ; 32(1): 58-63, 2024 Jan 20.
Artigo em Chinês | MEDLINE | ID: mdl-38320792

RESUMO

Objective: To explore the clinicopathological and molecular genetic features of adult hepatic mesenchymal hamartoma (MHL). Methods: A total of five confirmed adult MHL cases diagnosed at the Pathology Department of the First Medical Center of the People's Liberation Army General Hospital between 2009 and 2022 were collected. Histomorphological observation and immunohistochemical staining were conducted. Gene detection was performed by next-generation sequencing. Results: Among the five cases, four were male and one was female, aged 46-67 years, with an average age of 56.2 years. The maximum diameter was 5.3-13.5cm, and the average diameter was 9.2cm. Tumors were generally cystic, solid, or mixed cystic-solid. Histopathologically, in four out of five cases of MHL, malignant transformation occurred, of which three cases were malignantly transformed into undifferentiated embryonal sarcoma and one case was malignantly transformed into a malignant solitary fibrous tumor. NAB2-STAT6 gene rearrangements were identified. Conclusion: Adult MHL is a rare kind of tumor with malignant potential, and it is difficult to diagnose with preoperative imaging examinations. A fine-needle biopsy is rarely used for diagnosis, but surgical resection of symptomatic or enlarged lesions is recommended to rule out the possibility of malignancy and further diagnosis. Genetic testing results revealed the complex genetic alterations in MHL, and it was found that adult MHL can malignantly transform into malignant solitary fibrous tumors. We believe that genome-wide analysis is necessary to determine the unique molecular characteristics of MHL and identify potential targets for therapeutic intervention.


Assuntos
Hamartoma , Neoplasias Hepáticas , Sarcoma , Adulto , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Neoplasias Hepáticas/patologia , Sarcoma/genética , Sarcoma/patologia , Hamartoma/diagnóstico , Hamartoma/patologia , Hamartoma/cirurgia , Mutação , Biomarcadores Tumorais
4.
BMJ Open ; 14(2): e080870, 2024 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-38346878

RESUMO

INTRODUCTION: Hypothalamic hamartomas (HHs) are deep-seated congenital lesions that typically lead to pharmacoresistant epilepsy and a catastrophic encephalopathic syndrome characterised by severe neuropsychological impairment and decline in quality of life. A variety of surgical approaches and technologies are available for the treatment of HH-related pharmacoresistant epilepsy. There remains, however, a paucity of literature directly comparing their relative efficacy and safety. This protocol aims to facilitate a systematic review and meta-analysis that will characterise and compare the probability of seizure freedom and relevant postoperative complications across different surgical techniques performed for the treatment of HH-related pharmacoresistant epilepsy. METHODS AND ANALYSIS: This protocol was developed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Individual Participant Data guidelines. Three major databases, PubMed, Embase and Scopus, will be systematically searched from database inception and without language restrictions for relevant articles using our predefined search strategy. Title-abstract and full text screening using inclusion and exclusion criteria created a priori will be performed by two independent reviewers to identify eligible articles. Conflicts will be resolved via discussion with a third team member. Following data extraction of both study-level and individual patient data (IPD), a study-level and IPD meta-analysis will be performed. Study-level analysis will focus on assessing the degree of heterogeneity in the data and quantifying overall seizure outcomes for each surgical technique. The IPD analysis will use multivariable regression to determine perioperative predictors of seizure freedom and complications that can guide patient and technique selection. ETHICS AND DISSEMINATION: This work will not require ethics approval as it will be solely based on previously published and available data. The results of this review will be shared via conference presentation and submission to peer-reviewed neurosurgical journals. PROSPERO REGISTRATION: CRD42022378876.


Assuntos
Epilepsia , Hamartoma , Doenças Hipotalâmicas , Qualidade de Vida , Humanos , Revisões Sistemáticas como Assunto , Convulsões/etiologia , Convulsões/cirurgia , Metanálise como Assunto , Literatura de Revisão como Assunto
5.
BMJ Case Rep ; 17(2)2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38320830

RESUMO

Ruptured renal angiomyolipoma in pregnancy is uncommon. Pregnant women may present with nonspecific symptoms such as flank or abdominal pain, contraction pain and haematuria. A thorough assessment is needed to reach the correct diagnosis. Management varies between conservative measures, radiological intervention or surgery depending on the patient's haemodynamic status and foetal condition. We present a case of a woman in her 30s, gravida 5 para 3+1 at 28 weeks of gestation, who presented with pain. The pain worsened, and she went into hypovolaemic shock. An exploratory laparotomy and emergency caesarean section were done. Retroperitoneal haematoma was found intraoperatively, but the source of bleeding was difficult to determine. An abdominal CT angiogram subsequently revealed an ongoing bleeding from a ruptured angiomyolipoma. An emergency nephrectomy was performed, and the bleeding was secured.


Assuntos
Angiomiolipoma , Hamartoma , Neoplasias Renais , Trabalho de Parto , Trabalho de Parto Prematuro , Complicações Neoplásicas na Gravidez , Feminino , Humanos , Gravidez , Angiomiolipoma/diagnóstico , Angiomiolipoma/diagnóstico por imagem , Cesárea , Hemorragia Gastrointestinal , Neoplasias Renais/diagnóstico , Neoplasias Renais/diagnóstico por imagem , Dor , Complicações Neoplásicas na Gravidez/diagnóstico por imagem , Complicações Neoplásicas na Gravidez/cirurgia , Ruptura Espontânea/diagnóstico por imagem , Ruptura Espontânea/cirurgia , Adulto
6.
Tomography ; 10(2): 255-265, 2024 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-38393288

RESUMO

This study investigated the efficacy of single-phase dual-energy CT (DECT) in differentiating pulmonary hamartomas from malignant lung lesions using virtual non-contrast (VNC), iodine, and fat quantification. Forty-six patients with 47 pulmonary lesions (mean age: 65.2 ± 12.1 years; hamartomas-to-malignant lesions = 22:25; male: 67%) underwent portal venous DECT using histology, PET-CT and follow-up CTs as a reference. Quantitative parameters such as VNC, fat fraction, iodine density and CT mixed values were statistically analyzed. Significant differences were found in fat fractions (hamartomas: 48.9%; malignancies: 22.9%; p ≤ 0.0001) and VNC HU values (hamartomas: -20.5 HU; malignancies: 17.8 HU; p ≤ 0.0001), with hamartomas having higher fat content and lower VNC HU values than malignancies. CT mixed values also differed significantly (p ≤ 0.0001), but iodine density showed no significant differences. ROC analysis favored the fat fraction (AUC = 96.4%; sensitivity: 100%) over the VNC, CT mixed value and iodine density for differentiation. The study concludes that the DECT-based fat fraction is superior to the single-energy CT in differentiating between incidental pulmonary hamartomas and malignant lesions, while post-contrast iodine density is ineffective for differentiation.


Assuntos
Hamartoma , Iodo , Neoplasias Pulmonares , Humanos , Masculino , Pessoa de Meia-Idade , Idoso , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/métodos , Neoplasias Pulmonares/diagnóstico por imagem , Hamartoma/diagnóstico por imagem
7.
Artigo em Russo | MEDLINE | ID: mdl-38334734

RESUMO

Treatment of motor disorders by MRI-guided focused ultrasound is an alternative to neuro- and radiosurgery such as stereotactic radiofrequency ablation and thalamotomy with a gamma knife. However, safety, efficacy and feasibility of this technology for intracranial neoplasms are still unclear. The authors report successful hypothalamic hamartoma dissection by MRI-guided focused ultrasound in a 32-year-old woman with drug-resistant gelastic epilepsy and violent laughter and crying attacks. Magnetic resonance imaging revealed type II hypothalamic hamartoma. The last one was detached from surrounding brain tissue by MRI-guided focused ultrasound without side effects. Symptoms regressed immediately after surgery. No laughter and crying attacks were observed throughout 6-month follow-up.


Assuntos
Epilepsia Resistente a Medicamentos , Hamartoma , Doenças Hipotalâmicas , Feminino , Humanos , Adulto , Doenças Hipotalâmicas/diagnóstico por imagem , Doenças Hipotalâmicas/cirurgia , Hamartoma/diagnóstico por imagem , Hamartoma/cirurgia , Imageamento por Ressonância Magnética , Federação Russa
8.
J Cardiothorac Surg ; 19(1): 82, 2024 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-38336782

RESUMO

The decision of whether to perform a large anatomic resection for a lung mass that is not definitely malignant comes often forward in the everyday practice of the thoracic surgeon. The general characteristics of the tumor as well as of the patient and the instinct and experience of the surgeon are the ones that dictate the final choice. Such a decision was made in the case of a large pulmonary hamartoma where a right middle lobectomy was performed with the postoperative course justifying the surgeons' choice.


Assuntos
Hamartoma , Pneumopatias , Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/cirurgia , Pneumopatias/diagnóstico , Pneumopatias/cirurgia , Pulmão/patologia , Hamartoma/diagnóstico , Hamartoma/cirurgia , Hamartoma/patologia , Pneumonectomia
9.
Medicine (Baltimore) ; 103(6): e37135, 2024 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-38335392

RESUMO

RATIONALE: Tuberous sclerosis complex (TSC) is a rare autosomal dominant inherited disorder characterized by the development of nonmalignant tissue growths (hamartomas) in various organ systems, often located in the brain, skin, heart, lung and kidneys. The delayed diagnosis could be attributed to low expectation or exposure of physicians to this rare disease. High index of clinical suspicion is required for early diagnosis of rare diseases to prevent adverse outcomes. PATIENT CONCERNS: The first patient, a 27-year-old man, presented with intermittent left flank pain and hematuria of 5 months duration. On examination of the skin and oral cavity, he had fibrous cephalic plaque, facial angiofibromas, ungual fibromas, confetti skin lesions, and intraoral fibromas. A CT scan of the chest, abdomen, and brain displayed cystic lung parenchymal changes and multifocal micronodular pneumocyte hyperplasia, angiomyolipomas in both kidneys, and multiple calcified subependymal nodules (SEN), respectively. The second patient, a 28-year-old woman, presented with a seizure disorder in the last 1 year, and papular and nodular lesions over her face since childhood. On examination of the skin and oral cavity, she had hypomelanotic macules, facial angiofibromas, shagreen patches, ungual fibromas, intraoral fibromas, and dental enamel pits. DIAGNOSES: Definitive diagnosis of TSC was made in both patients using the "2012 tuberous sclerosis complex diagnostic criteria consensus statement." INTERVENTIONS: The first patient was seen by various medical discipline teams, and suggested close follow-up in the "chronic illness clinic" of the hospital. The second patient was scheduled in dermatology clinic for electrocautery for disfiguring facial nodules. OUTCOME: Both patients were scheduled for close follow-up in the hospital. LESSONS: The patients described had TSC using "clinical diagnostic criteria." Under the clinical diagnostic criteria of TSC, 4 of 11 major criteria and 3 of 7 minor criteria are skin features. Hence, awareness on skin features as clinical markers to suspect TSC should be emphasized in resource-limited countries.


Assuntos
Angiofibroma , Fibroma , Hamartoma , Dermatopatias , Esclerose Tuberosa , Adulto , Feminino , Humanos , Masculino , Angiofibroma/patologia , Fibroma/patologia , Hamartoma/patologia , Hiperplasia/patologia , Pele/patologia , Dermatopatias/diagnóstico , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/patologia
11.
J Hand Surg Asian Pac Vol ; 29(1): 64-68, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38299243

RESUMO

Lipofibromatous hamartoma (LFH) of the median nerve is a rare condition in the hand and often remains asymptomatic for a significant period. MRI imaging can reveal unique tumour characteristics; however, the definitive diagnosis is confirmed through a tissue biopsy. In this report, a 38-year-old male presented with a gradually growing mass on his right hand. Physical examination revealed a large soft tissue mass extending from the thenar area to the wrist, causing compression of the median nerve. MRI confirmed the presence of a distinct soft tissue mass on the volar side of the hand. The mass was excised along with a fascicle and confirmed by histological examination. One year after surgery, sensation has improved, but weakness remains and opponensplasty was offered to the patient. Although the treatment strategy of LFH of the median nerve remains controversial, delayed treatment can result in severe compressive neuropathy and irreversible nerve damage. Level of Evidence: Level V (Therapeutic).


Assuntos
Hamartoma , Doenças do Sistema Nervoso Periférico , Neoplasias de Tecidos Moles , Masculino , Humanos , Adulto , Nervo Mediano/diagnóstico por imagem , Nervo Mediano/cirurgia , Nervo Mediano/patologia , Mãos/diagnóstico por imagem , Mãos/cirurgia , Doenças do Sistema Nervoso Periférico/cirurgia , Neoplasias de Tecidos Moles/patologia , Hamartoma/diagnóstico por imagem , Hamartoma/cirurgia
12.
Dig Dis Sci ; 69(2): 349-354, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38183558

RESUMO

Solitary hamartomatous polyps with identical pathological features of the typical hamartomas of the Peutz-Jegher syndrome are extremely rare. These solitary lesions lack the associated intestinal polyposis, classic mucocutaneous pigmentation, and family history typifying the Peutz-Jegher syndrome. We describe the case of a 31-year-old woman with a giant solitary gastric hamartoma endoscopically diagnosed and laparoscopically resected.


Assuntos
Pólipos Adenomatosos , Hamartoma , Síndrome de Peutz-Jeghers , Neoplasias Gástricas , Feminino , Humanos , Adulto , Síndrome de Peutz-Jeghers/complicações , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/cirurgia , Neoplasias Gástricas/patologia , Pólipos Intestinais/complicações , Pólipos Intestinais/cirurgia , Pólipos Intestinais/patologia , Hamartoma/diagnóstico por imagem , Hamartoma/cirurgia , Hamartoma/patologia
13.
Neuroradiology ; 66(3): 437-441, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38206352

RESUMO

PURPOSE: Nasal chondromesenchymal hamartomas (NCMH) are rare, predominantly benign tumors of the sinonasal tract. The distinction from higher grade malignancy may be challenging based on imaging features alone. To increase the awareness of this entity among radiologists, we present a multi-institutional case series of pediatric NCMH patients showing the varied imaging presentation. METHODS: Descriptive assessment of imaging appearances of the lesions on computed tomography (CT) and magnetic resonance imaging (MRI) was performed. In addition, we reviewed demographic information, clinical data, results of genetic testing, management, and follow-up data. RESULTS: Our case series consisted of 10 patients, with a median age of 0.5 months. Intraorbital and intracranial extensions were both observed in two cases. Common CT findings included bony remodeling, calcifications, and bony erosions. MRI showed heterogeneous expansile lesion with predominantly hyperintense T2 signal and heterogenous post-contrast enhancement in the majority of cases. Most lesions exhibited increased diffusivity on diffusion weighted imaging and showed signal drop-out on susceptibility weighted images in the areas of calcifications. Genetic testing was conducted in 4 patients, revealing the presence of DICER1 pathogenic variant in three cases. Surgery was performed in all cases, with one recurrence in two cases and two recurrences in one case on follow-up. CONCLUSION: NCMHs are predominantly benign tumors of the sinonasal tract, typically associated with DICER1 pathogenic variants and most commonly affecting pediatric population. They may mimic aggressive behavior on imaging; therefore, awareness of this pathology is important. MRI and CT have complementary roles in the diagnosis of this entity.


Assuntos
Hamartoma , Imageamento por Ressonância Magnética , Humanos , Criança , Recém-Nascido , Imagem de Difusão por Ressonância Magnética , Hamartoma/diagnóstico por imagem , Hamartoma/cirurgia , Tomografia Computadorizada por Raios X , Ribonuclease III , RNA Helicases DEAD-box
14.
J Am Vet Med Assoc ; 262(3): 1-4, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38183769

RESUMO

OBJECTIVE: To describe the clinical presentation, novel surgical approach, and outcome of a dog diagnosed with chondro-osseous respiratory epithelial adenomatoid hamartoma (COREAH). ANIMAL: 5-year-old castrated male Yorkshire Terrier. CLINICAL PRESENTATION, PROGRESSION, AND PROCEDURES: The dog was presented with chronic upper respiratory noise, congestion, facial swelling, ocular discharge, and an abscess on the nasal bridge. Two CT scans were performed 4 months apart. The CT scans yielded similar results: cyst-like nasal masses with severely destructive bilateral rhinitis with extensive polyostotic bony lysis. A dorsal rhinotomy with a turbinectomy and debridement of the nasal cavity were performed. A poorly defined but extensive lesion was found occupying the entirety of the left frontal sinus as well as the nasal cavity. TREATMENT AND OUTCOME: Histopathology revealed a mass consistent with COREAH. The dog recovered well from surgery, except for self-limiting subcutaneous emphysema, and 3 weeks postoperatively was reportedly doing well, with mild nasal discharge. Stridor, nasal discharge, and sneezing episodes were reported postoperatively; however, these were improved. At 18 months postoperatively, the dog died from uncontrolled seizures while hospitalized for suspected acute hemorrhagic diarrhea syndrome at a different hospital. CLINICAL RELEVANCE: COREAH should be considered a potential cause of destructive bilateral rhinitis and bony lysis in dogs. Dorsal rhinotomy can be a surgical treatment for dogs with possible COREAH with acceptable outcome, though complete remission of clinical signs may not be achieved. This is the first clinical description of COREAH in a dog.


Assuntos
Adenoma , Doenças do Cão , Hamartoma , Neoplasias Nasais , Rinite , Cães , Masculino , Animais , Nariz/patologia , Cavidade Nasal/patologia , Rinite/veterinária , Neoplasias Nasais/veterinária , Adenoma/veterinária , Hamartoma/diagnóstico , Hamartoma/cirurgia , Hamartoma/veterinária , Doenças do Cão/diagnóstico , Doenças do Cão/cirurgia , Doenças do Cão/patologia
15.
Clin Imaging ; 107: 110085, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38262259

RESUMO

The "breast within a breast" sign is used to describe the appearance of a breast hamartoma, also known as a fibroadenolipoma. A breast hamartoma is a benign mass made up of the same tissues that are found in a normal breast, giving the appearance of a breast within a breast on mammography. The "breast within a breast" sign is pathognomonic for a breast hamartoma and can help confidently diagnose these masses as benign without the need for further imaging or biopsy.


Assuntos
Doenças Mamárias , Neoplasias da Mama , Hamartoma , Humanos , Feminino , Mama/diagnóstico por imagem , Mama/patologia , Mamografia , Doenças Mamárias/diagnóstico por imagem , Doenças Mamárias/patologia , Hamartoma/diagnóstico , Biópsia , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/patologia
16.
Arab J Gastroenterol ; 25(1): 70-73, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38296695

RESUMO

Brunner's gland hamartoma (BGH) is a rare, benign tumor of the duodenum. It is mostly asymptomatic and usually found incidentally on routine esophagogastroduodenoscopy (EGD). However, some BGHs present with major complications including anemia, bleeding, obstruction, or dysplasia, requiring management and resection of these lesions. Herein, we present two cases of large BGHs of the duodenum, one presenting as severe gastrointestinal bleeding and the other, noted on EGD for iron deficiency anemia, found to have high grade dysplasia. This literature review discusses the rare serious complications of BGH, including iron deficiency anemia, overt gastrointestinal bleeding, and malignant potential.


Assuntos
Anemia Ferropriva , Glândulas Duodenais , Duodenopatias , Hamartoma , Humanos , Glândulas Duodenais/patologia , Duodenopatias/diagnóstico , Duodenopatias/cirurgia , Duodenopatias/complicações , Anemia Ferropriva/diagnóstico , Anemia Ferropriva/etiologia , Hamartoma/diagnóstico , Hamartoma/cirurgia , Hemorragia Gastrointestinal/etiologia
19.
Ophthalmic Genet ; 45(1): 78-83, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37133826

RESUMO

BACKGROUND: Congenital simple hamartoma of the retinal pigment epithelium is often identified as an incidental finding. One important issue is the differentiation of these benign lesions from other lesions which could be potentially sight-threatening. METHODS: This study describes 4 cases of congenital simple hamartoma of the retinal pigment epithelium that were referred to a university-based hospital. Multimodal imaging including fundus photo, multicolor fundus photo, fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, fluorescein angiography and multifocal electroretinogram is provided. RESULTS: The first case is a young man with an incidental finding of this lesion. The second and third cases are diabetic patients with congenital simple hamartoma of the retinal pigment epithelium and diabetic macular edema and the fourth one is a case of congenital simple hamartoma of the retinal pigment epithelium with a full-thickness macular hole. CONCLUSIONS: Differentiation of congenital simple hamartoma of the retinal pigment epithelium from other potentially sight-threatening lesions is important. Multimodal imaging can be helpful regarding this issue. Besides typical findings described in the literature, unique features in our cases include concurrent diabetic macular edema and association with a full-thickness macular hole.


Assuntos
Retinopatia Diabética , Hamartoma , Edema Macular , Doenças Retinianas , Perfurações Retinianas , Masculino , Humanos , Epitélio Pigmentado da Retina/patologia , Perfurações Retinianas/patologia , Doenças Retinianas/diagnóstico , Doenças Retinianas/complicações , Edema Macular/patologia , Retinopatia Diabética/complicações , Angiofluoresceinografia , Hamartoma/diagnóstico , Hamartoma/complicações , Imagem Multimodal , Tomografia de Coerência Óptica/métodos
20.
Int J Surg Pathol ; 32(1): 206-208, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37160913

RESUMO

Renal epithelioid angiomyolipoma (EAML) (epithelioid PEComa of the kidney), is a rare subtype of renal angiomyolipoma with the potential for aggressive behavior and a known diagnostically challenging entity. We present a renal EAML with unusual papillary architecture and tumor cells with abundant eosinophilic cytoplasm and cherry-red nucleoli with perinucleolar halos, strongly mimicking a fumarate hydratase (FH) deficient renal cell carcinoma (RCC). We herein report our findings and discuss the morphologic, immunohistochemical, and molecular pitfalls to consider in the differential of EAML, including with FH-deficient RCC and more recently described entities: TFEB-amplified RCC and other renal tumors with alterations in TSC1/2. Novel findings in this tumor include papillary morphology and a novel telomerase reverse transcriptase promoter rearrangement, which has not been previously reported in EAML.


Assuntos
Angiomiolipoma , Carcinoma de Células Renais , Hamartoma , Neoplasias Renais , Humanos , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Neoplasias Renais/patologia , Angiomiolipoma/diagnóstico , Angiomiolipoma/patologia , Biomarcadores Tumorais , Rim/patologia
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