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Archives of Pathology & Laboratory... Jul 2023Epithelioid angiomyolipomas (eAMLs) are rare tumors of the kidney that occur in patients with tuberous sclerosis complex or in a sporadic setting; a subset of these...
CONTEXT.—
Epithelioid angiomyolipomas (eAMLs) are rare tumors of the kidney that occur in patients with tuberous sclerosis complex or in a sporadic setting; a subset of these tumors exhibit metastatic behavior.
OBJECTIVE.—
To analyze molecular profiling data to identify pathogenic alterations in rare cases of metastatic eAML, and to identify immunohistochemistry (IHC)-based surrogate markers.
DESIGN.—
Molecular profiling data from the American Association for Cancer Research GENIE registry was accessed for 23 patients with angiomyolipomas, and 9 of 16 patients with eAMLs in our institutional registry were evaluated with next-generation sequencing. IHC was performed to screen for alterations of P53, RB, and ATRX for all 16 institutional cases.
RESULTS.—
Combined alterations of 5 tumor-suppressor genes (TP53, ATRX, RB1, APC, and NF1) were identified using next-generation sequencing in 7 of 8 (88%) patients with metastatic disease compared to a single patient with nonmetastatic disease (RB1 variant of uncertain significance; 1 of 24, 4%). No cases with abnormal IHC results were identified in 11 patients with nonmetastatic disease compared to 3 of 5 patients with metastatic disease.
CONCLUSIONS.—
Our results show that the majority of metastatic eAMLs have mutations of 5 tumor-suppressor genes (TP53, ATRX, RB1, APC, and NF1), while these are rare in patients with nonmetastatic disease. Furthermore, IHC for P53, RB, and ATRX may serve as a screen for a subset of these alterations in resource-limited settings. These findings, if validated in larger data sets, have the potential to predict metastatic behavior in eAMLs.
Topics: Humans; Angiomyolipoma; Tumor Suppressor Protein p53; Kidney Neoplasms; Kidney; Mutation; X-linked Nuclear Protein; Ubiquitin-Protein Ligases; Retinoblastoma Binding Proteins
PubMed: 36308711
DOI: 10.5858/arpa.2022-0127-OA -
Cancers Sep 2023(1) Background and (2) Methods: In this retrospective, observational, monocentric study, we selected a cohort of eighty-five patients (age range 38-87 years old, 51...
(1) Background and (2) Methods: In this retrospective, observational, monocentric study, we selected a cohort of eighty-five patients (age range 38-87 years old, 51 men), enrolled between January 2014 and December 2020, with a newly diagnosed renal mass smaller than 4 cm (SRM) that later underwent nephrectomy surgery (partial or total) or tumorectomy with an associated histopatological study of the lesion. The radiomic features (RFs) of eighty-five SRMs were extracted from abdominal CTs bought in the portal venous phase using three different CT scanners. Lesions were manually segmented by an abdominal radiologist. Image analysis was performed with the Pyradiomic library of 3D-Slicer. A total of 108 RFs were included for each volume. A machine learning model based on radiomic features was developed to distinguish between benign and malignant small renal masses. The pipeline included redundant RFs elimination, RFs standardization, dataset balancing, exclusion of non-reproducible RFs, feature selection (FS), model training, model tuning and validation of unseen data. (3) Results: The study population was composed of fifty-one RCCs and thirty-four benign lesions (twenty-five oncocytomas, seven lipid-poor angiomyolipomas and two renal leiomyomas). The final radiomic signature included 10 RFs. The average performance of the model on unseen data was 0.79 ± 0.12 for ROC-AUC, 0.73 ± 0.12 for accuracy, 0.78 ± 0.19 for sensitivity and 0.63 ± 0.15 for specificity. (4) Conclusions: Using a robust pipeline, we found that the developed RFs signature is capable of distinguishing RCCs from benign renal tumors.
PubMed: 37760532
DOI: 10.3390/cancers15184565 -
Urology Journal Oct 2023This study aimed to assess the importance of computed tomography (CT) imaging in the diagnostic and prognostic evaluation of renal epithelioid angiomyolipoma (EAML).
PURPOSE
This study aimed to assess the importance of computed tomography (CT) imaging in the diagnostic and prognostic evaluation of renal epithelioid angiomyolipoma (EAML).
MATERIALS AND METHODS
This study comprised 63 patients diagnosed with renal EAML in the First Affiliated Hospital of Soochow University during 2010-2021, who met the inclusion criteria. The clinical, pathological, and therapeutic features were analyzed to determine the optimum diagnostic and therapeutic approaches.
RESULTS
Of the 63 participants, 20 were men and 43 women aged 24-74 years (average, 45.5 years). In 35 and 28 participants, the tumor was located on the left and right sides, respectively. All the patients underwent CT scanning. Most of the patients (54/63) with EAMLs demonstrated hyperattenuation, one showed isoattenuation, and eight showed hypoattenuation compared with renal parenchyma on unenhanced CT images. The diameter of each tumor was 2-25 cm (average, 5.6 cm). All the participants underwent surgical treatment. Of these, 53 were followed up for 4-128 months (median, 64 months). Among the followed-up patients, one died of the tumor, one died due to acute severe pancreatitis, and two had an ipsilateral recurrence.
CONCLUSION
EAML is a relatively rare renal angiomyolipoma depleted in fat. A characteristic of hyperattenuation on unenhanced CT images in EAML can help distinguish this tumor from clear cell renal cell carcinoma. Surgical resection is the main treatment. Most EAMLs are benign, and only a few have malignant potential. However, post-surgery recurrence and metastasis may occur, especially in elderly patients, and thus close follow-up is recommended.
PubMed: 37330690
DOI: 10.22037/uj.v20i.7675 -
International Journal of Surgery Case... Oct 2023Epithelioid hepatic angiomyolipoma (HAML) is a rare benign tumor predominantly found in women. Its occurrence during pregnancy is extremely rare. Accurate diagnosis of...
INTRODUCTION AND IMPORTANCE
Epithelioid hepatic angiomyolipoma (HAML) is a rare benign tumor predominantly found in women. Its occurrence during pregnancy is extremely rare. Accurate diagnosis of HAML is challenging due to its radiological resemblance to other hepatic neoplasms. We present a case of epithelioid HAML in a pregnant patient, highlighting the diagnostic and management challenges encountered.
CASE PRESENTATION
A 24-year-old pregnant female, in her fifth month of pregnancy, presented with right hypochondrium pain and nausea. Radiological imaging suggested the possibility of a hepatic adenoma. The patient opted to continue the pregnancy with regular monitoring of the mass as well as fetal health. After delivering a healthy baby, the patient underwent successful mass excision and cholecystectomy. Histopathology of the liver mass confirmed the diagnosis of epithelioid HAML.
CLINICAL DISCUSSION
Epithelioid HAML is a rare tumor often misdiagnosed. It is more aggressive and frequently associated with tuberous sclerosis complex (TSC) compared to other subtypes. The diagnosis of HAML can be challenging due to its resemblance to Hepatocellular Carcinoma and other hepatic neoplasms on radiological imaging. Immunohistochemistry plays a crucial role in confirming the diagnosis. Surgical excision is the recommended treatment, with complete removal to minimize the risk of recurrence.
CONCLUSION
This case report highlights the rarity of epithelioid HAML during pregnancy and emphasizes the importance of a multidisciplinary approach in managing hepatic neoplasms. Close monitoring is crucial, considering the potential risks to the mother and fetus. Accurate diagnosis through histopathological evaluation, immunohistochemistry and a multidisciplinary approach are essential for appropriate management.
PubMed: 37806031
DOI: 10.1016/j.ijscr.2023.108902 -
The Oncologist Dec 2023In rapidly progressing cancers, appropriate selection of first-line therapy is essential in prolonging survival. Alongside immunohistochemistry (IHC), comprehensive...
In rapidly progressing cancers, appropriate selection of first-line therapy is essential in prolonging survival. Alongside immunohistochemistry (IHC), comprehensive genomics, including whole exome and transcriptome sequencing (WES/WTS), can improve diagnostic accuracy and guide therapeutic management. Here, we report a young patient with rapidly progressing malignancy and unexpected post-mortem results, a scenario that may have been altered by early, comprehensive genomic sequencing. A 43-year-old man with no relevant medical history presented to the emergency department with progressive cough and dyspnea despite treatment for pneumonia. Radiology revealed enlarged subcarinal, hilar, retroperitoneal, and mesenteric lymph nodes, suspicious for metastasis, and a right kidney mass. Pathologic analysis of a retroperitoneal lymph node was felt to be most consistent with metastatic epithelioid angiomyolipoma (mEAML). Three weeks later, he was urgently treated with an mTOR inhibitor for presumed mEAML due to rapid clinical decline, and a subsequent 4R lymph node biopsy was performed to confirm the diagnosis and identify genomic targets via IHC and WES/WTS. Unfortunately, he developed hypoxic respiratory failure, and only posthumously did WES/WTS reveal pathogenic variants in BAP1 and VHL, consistent with clear cell renal cell carcinoma (ccRCC). With an earlier ccRCC diagnosis, he would have received combination immunotherapy/tyrosine kinase inhibition, which has significantly greater activity than mTOR inhibition in ccRCC. He could have received systemic treatment earlier, with optimal therapy, while potentially carrying lower tumor burden and greater clinical stability. In cases of rapidly progressing malignancies with complex histopathological presentations, early comprehensive molecular-based testing can aid in diagnosis and critical therapeutic decision-making.
Topics: Male; Humans; Adult; Carcinoma, Renal Cell; Kidney Neoplasms; Kidney; TOR Serine-Threonine Kinases; Immunohistochemistry
PubMed: 37844295
DOI: 10.1093/oncolo/oyad280 -
Pulmonology 2024
Topics: Humans; Mediastinum; Angiomyolipoma
PubMed: 37684105
DOI: 10.1016/j.pulmoe.2023.07.001 -
World Journal of Clinical Cases May 2024Hepatic epithelioid angiomyolipoma (HEA) has a low incidence and both clinical manifestations and imaging lack specificity. Thus, it is easy to misdiagnose HEA as other...
BACKGROUND
Hepatic epithelioid angiomyolipoma (HEA) has a low incidence and both clinical manifestations and imaging lack specificity. Thus, it is easy to misdiagnose HEA as other tumors of the liver, especially in the presence of liver diseases such as hepatitis cirrhosis. This article reviewed the diagnosis and treatment of a patient with HEA and alcoholic cirrhosis, and analyzed the literature, in order to improve the understanding of this disease.
CASE SUMMARY
A 67-year-old male patient with a history of alcoholic cirrhosis was admitted due to the discovery of a space-occupying lesion in the liver. Based on the patient's history, laboratory examinations, and imaging examinations, a malignant liver tumor was considered and laparoscopic partial hepatectomy was performed. Postoperative pathology showed HEA. During outpatient follow-up, the patient showed no sign of recurrence.
CONCLUSION
HEA is difficult to make a definite diagnosis before surgery. HEA has the potential for malignant degeneration. If conditions permit, surgical treatment is recommended.
PubMed: 38765741
DOI: 10.12998/wjcc.v12.i14.2382 -
Cureus Jul 2023The novel Coronavirus (COVID-19) is one of the most recent Pandemics that invaded the earth and is still active. It caused and is still causing hundreds of thousands of...
The novel Coronavirus (COVID-19) is one of the most recent Pandemics that invaded the earth and is still active. It caused and is still causing hundreds of thousands of patients high morbidity and mortality rates, with no definitive cure at this moment. COVID-19 has been proven to be associated with pathologic changes in coagulation, characterized by either thromboembolic or bleeding events. We describe this case of a 44-year-old male patient who walked into our emergency department with flank pain and was later discovered to have had renal angiomyolipoma (AML) rupture during his COVID-19 infection, ultimately requiring admission for hemorrhage control via interventional radiology (IR) drainage. Here, we discuss the role of front-line physicians and how they should keep a low threshold for the different presentations that could be associated with COVID-19 infection, such as what was found in this case.
PubMed: 37575702
DOI: 10.7759/cureus.41734 -
Scandinavian Journal of Urology Oct 2023To evaluate the long-term efficacy of selective arterial embolisation in renal angiomyolipoma (AML), with emphasis on tumour shrinkage, potential regrowth and the...
OBJECTIVE
To evaluate the long-term efficacy of selective arterial embolisation in renal angiomyolipoma (AML), with emphasis on tumour shrinkage, potential regrowth and the necessity of supplementary procedures. Material and methods: A retrospective review of all 58 consecutive embolisations at two institutions, between 1999 and 2018, was performed. Clinical notes, laboratory data and imaging were reviewed.
RESULTS
The overall complication rate was 6.8%, with no Clavien-Dindo grades III-V complications. Kidney function was unaffected by embolisation as measured by creatinine. Median radiological follow-up was 4.8 years (interquartile range [IQR]: 2.8-7.8), and median clinical follow-up was 7.5 years (IQR: 4.7-14.0). Decreasing AML size was observed in 96% of procedures. Maximal shrinkage (30% median diameter decrease; IQR: 15-44) was reached after median 2.2 years (IQR: 0.6-4.8). During follow-up, regrowth occurred in 38% of patients, and four bleeding episodes occurred in three patients with tuberous sclerosis. Growing size and/or rebleeding prompted a redo embolisation in 9% of spontaneous AML and 50% of tuberous sclerosis-associated AML.
CONCLUSIONS
Being a well-tolerated treatment with few complications, selective arterial embolisation renders a pronounced size-reduction in most patients with AML, and kidney function is preserved. Regrowth is common, and a radiological follow-up is necessary. Tuberous sclerosis is a risk factor for the need of reintervention.
Topics: Humans; Angiomyolipoma; Tuberous Sclerosis; Kidney Neoplasms; Embolization, Therapeutic; Leukemia, Myeloid, Acute
PubMed: 37909895
DOI: 10.2340/sju.v58.12318 -
Aesthetic Surgery Journal. Open Forum 2023The authors present a rare case of Birt-Hogg-Dubé (BHD) syndrome that presented primarily as an aesthetic case. Previous providers failed to accurately diagnose BHD,...
The authors present a rare case of Birt-Hogg-Dubé (BHD) syndrome that presented primarily as an aesthetic case. Previous providers failed to accurately diagnose BHD, despite the patient's history of pneumothoraces. This female patient complained of numerous recurrent, small skin-colored growths on the face and neck and patchy hypopigmentation from the multiple treatments she had to undergo for her "bumpy skin." She also suffered 4 spontaneous pneumothoraces. Following histopathologic and genetic testing, the patient was diagnosed with BHD. Computed tomography and ultrasound scans revealed multiple cysts in both lungs and an angiomyolipoma in both kidneys. This patient had undergone a variety of treatments to aesthetically remove and heal her skin bumps from several healthcare providers, all of whom had misdiagnosed her condition.
PubMed: 37520842
DOI: 10.1093/asjof/ojad064