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      Imaging appearance of renal epithelioid angiomyolipoma : A case report and literature review

      case-report
      , MD, PhD a , , MD a , , MD, PhD b , , MD c ,
      Medicine
      Wolters Kluwer Health
      epithelioid angiomyolipoma, kidney, medical imaging, pathology,

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          Abstract

          Rationale:

          Epithelioid angiomyolipoma (EAML) is an extremely rare disease. It commonly occurs in middle-aged females and mainly involves the kidney. Histological and immunohistochemical examination play important roles in differentiating EAML from renal cell carcinoma (RCC) and poor-fat angiomyolipoma (AML).

          Patient concerns:

          Here, We report the imaging phenotype, as well as the pathological findings of a case of EAML in a 39-year-old female.

          Diagnoses:

          Preoperative noncontrast computed tomography (CT) scan revealed a 6.0 × 5.2 × 7.0 cm soft tissue mass with necrosis, located in the left kidney. On contrast-enhanced CT images, aprogressive enhancement pattern was observed. CT angiography did not show any enlarged vessels or vascular malformation. Abdominal MRI showed a well-circumscribed solid mass with a heterogeneous signal on T1-weighted and T2-weighted images. Ultrasonography of the abdomen demonstrated a hypoechoic mass with abundant blood flow. This patient underwent radical nephrectomy. The pathologic diagnosis was EAML.

          Interventions:

          This patient underwent operative resection of the tumor. The resection margins were negative for the neoplastic proliferation and no distant metastases were found. The patient did not receive advanced radiotherapy or chemotherapy.

          Outcomes:

          Four months after surgery, the follow-up CT scan did not reveal any local recurrence or distant metastases.

          Lessons:

          This case adds to the experience with EAML by summarizing its imaging characteristics as well as reviewing the literature. Additionally, we described the state-of-the-art management of the management of this rare tumor.

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          Most cited references26

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          Pure epithelioid PEComas (so-called epithelioid angiomyolipoma) of the kidney: A clinicopathologic study of 41 cases: detailed assessment of morphology and risk stratification.

          Epithelioid angiomyolipomas (perivascular epithelioid cell tumors) of the kidney are defined as potentially malignant mesenchymal lesions that are closely related to classic angiomyolipoma. Although approximately 120 cases are published, mostly as case reports with variably used diagnostic criteria, the pathologic prognostic predictors of outcome are unknown. We analyzed the clinicopathologic parameters in a large series of 41 cases of pure epithelioid angiomyolipomas of the kidney, which we designate as pure (monotypic) epithelioid PEComas to contrast them from classic angiomyolipomas that are regarded by some as PEComas. We use the terminology "pure" to separate these cases from those that may have variable epithelioid components. The mean age of the patients was 40.7 years (range, 14 to 68 y). The male-to-female ratio was 1:1. Seventy-nine percent of patients were symptomatic at presentation with metastatic disease at onset in 12 cases. Follow-up and/or disease progression information were available for 33 of 41 cases (mean, 44.5 mo and median, 24.5 mo; range, 4 to 240); 9 patients had a history of associated tuberous sclerosis. Recurrence and metastasis were seen in 17% and 49% of patients; 33% of patients died of disease. Lymph node involvement was seen in 24% of patients; the liver (63%), lung (25%), and mesentery (18.8%) were the most common metastatic sites. Clinicopathologic parameters associated with disease progression (recurrence, metastasis, or death due to disease) in univariate analysis included associated tuberous sclerosis complex or concurrent angiomyolipoma (any metastasis, P=0.046), necrosis (metastasis at diagnosis, P=0.012), tumor size >7 cm (progression, P=0.021), extrarenal extension and/or renal vein involvement (progression, P=0.023), and carcinoma-like growth pattern (progression, P=0.040) (the 5 adverse prognostic parameters for pure epithelioid PEComas). Tumors with <2 adverse prognostic parameters (13 cases) were considered to be low risk for progression tumor, with 15% having disease progression. Tumors with 2 to 3 adverse prognostic parameters (14 cases) were considered to be "intermediate risk," with 64% having disease progression. Tumors with more than 4 or more adverse prognostic parameters (6 cases) were considered to be high risk, with all patients having disease progression. Of tumors with 3 or more adverse prognostic parameters, 80% had disease progression. An exact logistic regression analytic model showed that only carcinoma-like growth pattern and extrarenal extension and/or renal vein involvement were significant predictors of outcome (P=0.009 and 0.033, respectively). Our data of a large series with uniform definitional criteria confirm the malignant potential for pure epithelioid PEComas and provide adverse prognostic parameters for risk stratification in these patients.
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            Transformation of chronic lymphocytic leukemia/small lymphocytic lymphoma to interdigitating dendritic cell sarcoma: evidence for transdifferentiation of the lymphoma clone.

            Interdigitating dendritic cell sarcoma (IDCS) is a rare tumor derived from interdigitating dendritic cells. Three cases of IDCS associated with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) have been described, but no clonal relationship between the 2 neoplasms was demonstrated. We present a detailed case analysis of a CLL/SLL with metachronous IDCS and demonstrate that these 2 neoplasms are clonally related. The IDCS and CLL cells had trisomy 12 and identical monoclonal immunoglobulin heavy chain gene rearrangements. Analysis of transcription factors with a role in myeloid differentiation demonstrated PU.1 up-regulation and C/EBPalpha down-regulation in IDCS compared with CLL. High-density array comparative genomic hybridization also identified gains in part of chromosome 16q in IDCS. Our study demonstrates for the first time clonal transformation of CLL/SLL into IDCS. This phenomenon may be triggered by alterations in lineage-determining transcription programs, which result in transdifferentiation, coupled with additional oncogenic stimuli caused by chromosomal imbalances.
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              Epithelioid angiomyolipoma of the kidney: pathological features and clinical outcome in a series of consecutively resected tumors.

              The 2004 World Health Organization classification of tumors defines epithelioid angiomyolipoma of kidney as a potentially malignant mesenchymal neoplasm with reported metastasis in approximately one-third of the cases. However, this conclusion was based primarily on individual case reports and small retrospective series. More recently reported larger series have shown varying results. We reviewed 437 consecutive renal angiomyolipomas with primary resection at three tertiary-care institutions with high nephrectomy volumes. Only tumors showing >80% epithelioid histology were included in this study. Tumors resected elsewhere and reviewed in consultation were not included. Twenty of these 437 (4.6%) were classified as epithelioid angiomyolipoma. The female to male ratio was 11:9, mean age 49.7 (range, 30-80) years, and mean tumor size 8.7 (range, 1-25) cm. Microscopic tumor necrosis was present in 10 (50%) tumors and mitotic activity (range, <1-5/10 high power fields) in 8 (40%); atypical mitoses were seen in only 1 (5%) tumor. Pleomorphic ganglion-like or multinucleated giant cells were seen in 18 (90%) tumors. With a mean follow-up of 82.5 (range, 1-356) months, seventeen patients were alive with no-evidence-of-disease at the time of last follow-up; two patients died of unrelated causes with no-evidence-of-disease, and one patient (5%) developed distant metastases. Our data, based on consecutively resected angiomyolipomas with long clinical follow-up, suggests that epithelioid angiomyolipomas constitute a small proportion of all angiomyolipomas, and the rate of aggressive behavior among epithelioid angiomyolipomas, even when showing morphologic features previously reported to portend aggressive clinical behavior, is very low.
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                Author and article information

                Journal
                Medicine (Baltimore)
                Medicine (Baltimore)
                MEDI
                Medicine
                Wolters Kluwer Health
                0025-7974
                1536-5964
                January 2018
                05 January 2018
                : 97
                : 1
                : e9563
                Affiliations
                [a ]Department of Radiology
                [b ]Department of Urology
                [c ]Department of Cardiology, The Second Affiliated Hospital of Nanjing Medical University, Nanjing, China.
                Author notes
                []Correspondence: Hongyong Cheng, The Second Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China (e-mail: chenghongyong@ 123456njmu.edu.cn ).
                Article
                MD-D-17-07072 09563
                10.1097/MD.0000000000009563
                5943089
                29505538
                a647c3d1-5b75-45bd-a63e-0d43d8559c10
                Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc.

                This is an open access article distributed under the Creative Commons Attribution-NoDerivatives License 4.0, which allows for redistribution, commercial and non-commercial, as long as it is passed along unchanged and in whole, with credit to the author. http://creativecommons.org/licenses/by-nd/4.0

                History
                : 16 November 2017
                : 6 December 2017
                : 7 December 2017
                Categories
                4100
                Research Article
                Clinical Case Report
                Custom metadata
                TRUE

                epithelioid angiomyolipoma,kidney,medical imaging,pathology,

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