{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T18:12:45Z","timestamp":1648577565473},"reference-count":13,"publisher":"Georg Thieme Verlag KG","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Aktuelle Urol"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2002The objective of this study is to discuss clinical characteristics and treatments of hereditary leiomyomatosis renal cell carcinoma on the basis of 2 cases and to review recent literature, in order to present medical advances.<\/jats:p><jats:p>\n          Methods\u2002A 29-year old male patient came to our hospital because of a huge tumour on the right kidney. Enhanced CT showed that the tumour was about 15.5*10.5\u200acm, and was considered to be malignant. Another case was a 38-year old female patient. She complained was found to have a right kidney tumour in a routine physical examination. Enhanced CT showed an early-stage tumour of about 4.3*3.7\u200acm on the lower pole of the right kidney. The male patient underwent open radical nephrectomy and the female patient underwent laparoscopic radical nephrectomy and extensive retroperitoneal lymph node dissection. The two patients underwent genetic testing and were diagnosed as having hereditary leiomyomatosis with renal cell carcinoma.<\/jats:p><jats:p>\n          Results\u2002The postoperative pathology in both patients revealed type 2 papillary renal cell carcinoma but with different prognosis. The male patient suffered multiple metastasis 10 months post-operation. The metastatic tumour of the abdominal wall was resected to confirm recurrence and hereditary leiomyomatosis renal cell carcinoma was diagnosed by the genetic test. While the female patient had a specific family history and uterine leiomyomas, the genetic test helped us to identify hereditary leiomyomatosis renal cell carcinoma pre-operation. Because of the early diagnosis and timely treatment, the female patient was considered to have a good prognosis.<\/jats:p><jats:p>\n          Conclusion\u2002Hereditary leiomyomatosis renal cell carcinoma is a rare hereditary disease resulting from FH gene mutation. There are currently no effective treatments.Our cases demonstrate that hereditary leiomyomatosis renal cell carcinoma is a very aggressive disease. Early screening and surveillance are recommended for patients with a family history or who are at risk of hereditary leiomyomatosis renal cell carcinoma. Surgical and palliative therapy still play an important role in clinical treatment.<\/jats:p>","DOI":"10.1055\/a-1139-0697","type":"journal-article","created":{"date-parts":[[2020,9,15]],"date-time":"2020-09-15T23:00:55Z","timestamp":1600210855000},"page":"58-63","source":"Crossref","is-referenced-by-count":0,"title":["Clinical characteristics and treatments of hereditary leiomyomatosis renal cell carcinoma: two case reports and literature review"],"prefix":"10.1055","volume":"52","author":[{"given":"Dalin","family":"Feng","sequence":"additional","affiliation":[{"name":"Beijing Chao-Yang Hospital, urology surgery, Beijing"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingshuai","family":"Wang","sequence":"additional","affiliation":[{"name":"Beijing Chao-Yang Hospital, urology surgery, Beijing"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Beijing Chao-Yang Hospital, urology surgery, Beijing"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianwen","family":"Wang","sequence":"additional","affiliation":[{"name":"Beijing Chao-Yang Hospital, urology surgery, Beijing"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2020,9,15]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1007\/s10689-014-9735-2","article-title":"Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment","volume":"13","author":"F H Menko","year":"2014","journal-title":"Familial Cancer"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1002\/gcc.22452","article-title":"Comprehensive genomic and phenotypic characterization of germline\\r,\u00a0FH\\r, deletion in hereditary leiomyomatosis and renal cell carcinoma","volume":"56","author":"C D Vocke","year":"2017","journal-title":"Genes, Chromosomes and Cancer"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1111\/cge.13222","article-title":"Correction to: Reassessing the clinical spectrum associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma syndrome in French FH mutation carriers","volume":"93","author":"M Muller","year":"2018","journal-title":"Clinical Genetics"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1097\/PAS.0b013e31804375b8","article-title":"The Morphologic Spectrum of Kidney Tumors in Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) Syndrome","volume":"31","author":"M J Merino","year":"2007","journal-title":"The American Journal of Surgical Pathology"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1136\/jmg.2010.085068","article-title":"Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma","volume":"48","author":"B Gardie","year":"2011","journal-title":"Journal of Medical Genetics"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/ng849","article-title":"Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer","volume":"30","author":"I PM Tomlinson","year":"2002","journal-title":"Nature Genetics"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1038\/modpathol.2013.215","article-title":"Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry","volume":"27","author":"C Reyes","year":"2014","journal-title":"Modern Pathology"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"2757","DOI":"10.1111\/cas.13701","article-title":"Fumarate hydratase inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction","volume":"109","author":"M J Kerins","year":"2018","journal-title":"Cancer Science"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1016\/j.ejca.2010.01.011","article-title":"Amplification of epidermal growth factor receptor gene in renal cell carcinoma","volume":"46","author":"I El-Hariry","year":"2010","journal-title":"European Journal of Cancer"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.ccr.2011.08.024","article-title":"An Antioxidant Response Phenotype Shared between Hereditary and Sporadic Type 2 Papillary Renal Cell Carcinoma","volume":"20","author":"A Ooi","year":"2011","journal-title":"Cancer Cell"},{"key":"ref11","first-page":"381","article-title":"Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma","volume":"191","author":"R P Kopp","year":"2014","journal-title":"Journal of Urology"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1186\/s12885-016-2272-7","article-title":"Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report","volume":"16","author":"T Kamai","year":"2016","journal-title":"BMC Cancer"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1053\/j.ackd.2013.10.001","article-title":"Hereditary Kidney Cancer Syndromes","volume":"21","author":"N B Haas","year":"2014","journal-title":"Adv Chronic Kidney Dis"}],"container-title":["Aktuelle Urologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1139-0697.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T00:06:55Z","timestamp":1612224415000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1139-0697"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,15]]},"references-count":13,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2021,2,1]]},"published-print":{"date-parts":[[2021,2]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1139-0697","relation":{},"ISSN":["0001-7868","1438-8820"],"issn-type":[{"value":"0001-7868","type":"print"},{"value":"1438-8820","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,15]]}}}