Literature DB >> 32562921

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome: Spectrum of imaging findings.

Anna K Paschall1, Moozhan Nikpanah2, Faraz Farhadi2, Elizabeth C Jones2, Paul G Wakim3, Andrew J Dwyer2, Rabindra Gautam4, Maria J Merino5, Ramaprasad Srinivasan4, W Marston Linehan4, Ashkan A Malayeri6.   

Abstract

PURPOSE: To retrospectively investigate the radiological presentations of HLRCC-associated renal tumors to facilitate accurate lesion characterization and compare these presentations with simple cysts and characteristics of other subtypes of renal cell carcinoma (RCC) as reported in the literature.
METHODS: The MRI and CT imaging characteristics of 39 pathologically confirmed lesions from 30 patients (20 male, 10 female) with HLRCC syndrome were evaluated by two radiologists. Patients had an average age at diagnosis of 43.8 ± 13.1 years. Lesion characteristics including laterality, homogeneity, diameter (cm), nodularity, septations, T1 and T2 signal intensity, enhancement, and restricted diffusion were recorded. Imaging characteristics of the lesions were further compared to characteristics of benign simple cysts surgically removed at the same time point.
RESULTS: The examined lesions had a mean diameter of 5.06 ± 3.80 cm, an average growth rate of 2.91 × 10-3 cm/day and an estimated annual growth rate of 1.06 cm/year. 50% of lesions demonstrated nodularity, 65% were mostly T2-hyperintense, 83% demonstrated restricted diffusion in solid portions of the lesions, and 65% had well-defined margins. 76% of patients demonstrated extra-renal manifestations, 53% lymphadenopathy, and 43% distant metastasis.
CONCLUSIONS: Our analysis confirmed that while HLRCC-associated renal lesions demonstrate diversity in imaging presentations, the majority are unilateral and solitary, T2-hyperintense, heterogeneous with well-defined margins, and frequently demonstrate restricted diffusion and nodularity. Published by Elsevier Inc.

Entities:  

Keywords:  CT; Genitourinary; HLRCC; MRI; Papillary RCC; RCC

Mesh:

Year:  2020        PMID: 32562921      PMCID: PMC8916163          DOI: 10.1016/j.clinimag.2020.06.010

Source DB:  PubMed          Journal:  Clin Imaging        ISSN: 0899-7071            Impact factor:   1.605


  27 in total

Review 1.  Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review.

Authors:  Viral M Patel; Marc Z Handler; Robert A Schwartz; W Clark Lambert
Journal:  J Am Acad Dermatol       Date:  2017-03-14       Impact factor: 11.527

2.  Comparative study of CT appearances in renal oncocytoma and chromophobe renal cell carcinoma.

Authors:  Jingtao Wu; Qingqiang Zhu; Wenrong Zhu; Wenxin Chen; Shouan Wang
Journal:  Acta Radiol       Date:  2015-05-13       Impact factor: 1.990

3.  Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.

Authors:  Ying-Bei Chen; A Rose Brannon; Antoun Toubaji; Maria E Dudas; Helen H Won; Hikmat A Al-Ahmadie; Samson W Fine; Anuradha Gopalan; Norma Frizzell; Martin H Voss; Paul Russo; Michael F Berger; Satish K Tickoo; Victor E Reuter
Journal:  Am J Surg Pathol       Date:  2014-05       Impact factor: 6.394

Review 4.  Papillary renal cell carcinoma: radiologic-pathologic correlation and spectrum of disease.

Authors:  Raghunandan Vikram; Chaan S Ng; Pheroze Tamboli; Nizar M Tannir; Eric Jonasch; Surena F Matin; Christopher G Wood; Carl M Sandler
Journal:  Radiographics       Date:  2009 May-Jun       Impact factor: 5.333

5.  Differential radiologic characteristics of renal tumours on multiphasic computed tomography.

Authors:  Boon Chye Ching; Hui Shan Tan; Puay Hoon Tan; Chee Keong Toh; Ravindran Kanesvaran; Quan Sing Ng; Min Han Tan
Journal:  Singapore Med J       Date:  2016-04-19       Impact factor: 1.858

6.  Renal oncocytoma: magnetic resonance imaging characteristics.

Authors:  W J Harmon; B F King; M M Lieber
Journal:  J Urol       Date:  1996-03       Impact factor: 7.450

7.  Renal oncocytoma: CT features cannot reliably distinguish oncocytoma from other renal neoplasms.

Authors:  S Choudhary; A Rajesh; N J Mayer; K A Mulcahy; A Haroon
Journal:  Clin Radiol       Date:  2009-03-09       Impact factor: 2.350

8.  Surgical resection of brain metastases from renal cell carcinoma in 50 patients.

Authors:  M Wroński; E Arbit; P Russo; J H Galicich
Journal:  Urology       Date:  1996-02       Impact factor: 2.649

9.  Growth rates of renal cell carcinoma and oncocytoma under surveillance are similar.

Authors:  Wendy Siu; Khaled S Hafez; William K Johnston; J Stuart Wolf
Journal:  Urol Oncol       Date:  2007 Mar-Apr       Impact factor: 3.498

Review 10.  Hereditary leiomyomatosis and renal cell carcinoma.

Authors:  Laura S Schmidt; W Marston Linehan
Journal:  Int J Nephrol Renovasc Dis       Date:  2014-06-20
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  3 in total

Review 1.  Bosniak classification of cystic renal masses, version 2019: interpretation pitfalls and recommendations to avoid misclassification.

Authors:  Elizabeth Edney; Matthew S Davenport; Nicole Curci; Nicola Schieda; Satheesh Krishna; Nicole Hindman; Stuart G Silverman; Ivan Pedrosa
Journal:  Abdom Radiol (NY)       Date:  2021-01-23

2.  Multidetector CT Characteristics of Fumarate Hydratase-Deficient Renal Cell Carcinoma and Papillary Type II Renal Cell Carcinoma.

Authors:  Ling Yang; Xue-Ming Li; Ya-Jun Hu; Meng-Ni Zhang; Jin Yao; Bin Song
Journal:  Korean J Radiol       Date:  2021-09-24       Impact factor: 3.500

3.  Single-cell transcriptomes underscore genetically distinct tumor characteristics and microenvironment for hereditary kidney cancers.

Authors:  Ryosuke Jikuya; Koichi Murakami; Akira Nishiyama; Ikuma Kato; Mitsuko Furuya; Jun Nakabayashi; Jordan A Ramilowski; Haruka Hamanoue; Kazuhiro Maejima; Masashi Fujita; Taku Mitome; Shinji Ohtake; Go Noguchi; Sachi Kawaura; Hisakazu Odaka; Takashi Kawahara; Mitsuru Komeya; Risa Shinoki; Daiki Ueno; Hiroki Ito; Yusuke Ito; Kentaro Muraoka; Narihiko Hayashi; Keiichi Kondo; Noboru Nakaigawa; Koji Hatano; Masaya Baba; Toshio Suda; Tatsuhiko Kodama; Satoshi Fujii; Kazuhide Makiyama; Masahiro Yao; Brian M Shuch; Laura S Schmidt; W Marston Linehan; Hidewaki Nakagawa; Tomohiko Tamura; Hisashi Hasumi
Journal:  iScience       Date:  2022-05-25
  3 in total

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