{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:50:59Z","timestamp":1761709859091,"version":"build-2065373602"},"reference-count":13,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,6,25]],"date-time":"2021-06-25T00:00:00Z","timestamp":1624579200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Current Oncology"],"abstract":"<jats:p>In current clinical guidelines, such as those provided by the National Comprehensive Cancer Network (NCCN), evidence for treatment is based on a small clinical trial that included patients with HLRCC. They support the use of the combination of erlotinib and bevacizumab as the first therapeutic option in this rare condition. In the present study, we report a rare case of this condition in an 18-year-old male with a family history of kidney cancer whom we successfully treated with surgery and a novel drug treatment modality based on the combination of an immune check-point inhibitor (ICPI) and a tyrosine-kinase inhibitor (TKI) with excellent and promising results.<\/jats:p>","DOI":"10.3390\/curroncol28040216","type":"journal-article","created":{"date-parts":[[2021,6,25]],"date-time":"2021-06-25T11:07:40Z","timestamp":1624619260000},"page":"2346-2350","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Response to Combination of Pembrolizumab and Axitinib in Hereditary Leyomiomatosis and Renal Cell Cancer (HLRCC)"],"prefix":"10.3390","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2519-8079","authenticated-orcid":false,"given":"Ibon","family":"Gurruchaga Sot\u00e9s","sequence":"first","affiliation":[{"name":"Medical Oncology Department, Miguel Servet University Hospital, 50009 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Nu\u00f1o","family":"Alves","sequence":"additional","affiliation":[{"name":"Medical Oncology Department, Obispo Polanco Hospital, 440002 Teruel, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra Vicente","family":"Arregui","sequence":"additional","affiliation":[{"name":"Pathology Department, Miguel Servet University Hospital, 50009 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Santander Lobera","sequence":"additional","affiliation":[{"name":"Medical Oncology Department, Miguel Servet University Hospital, 50009 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1007\/s00345-018-2288-5","article-title":"Hereditary renal cell carcinoma syndromes: Diagnosis, surveillance and management","volume":"36","author":"Maher","year":"2018","journal-title":"World J. Urol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.jaad.2017.01.023","article-title":"Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review","volume":"77","author":"Patel","year":"2017","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1001\/archderm.141.2.199","article-title":"Clinical features of multiple cutaneous and uterine leiomyomatosis: An underdiagnosed tumor syndrome","volume":"141","author":"Alam","year":"2005","journal-title":"Arch. Dermatol."},{"key":"ref_4","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":"Tomlinson","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_5","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":"Gardie","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1136\/jmg.2005.033506","article-title":"Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer","volume":"43","author":"Wei","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"3657","DOI":"10.1002\/cncr.32914","article-title":"Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer","volume":"126","author":"Shuch","year":"2020","journal-title":"Cancer"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"5004","DOI":"10.1200\/JCO.2020.38.15_suppl.5004","article-title":"Results from a phase II study of bevacizumab and erlotinib in subjects with advanced hereditary leiomyomatosis and renal cell cancer (HLRCC) or sporadic papillary renal cell cancer","volume":"38","author":"Srinivasan","year":"2020","journal-title":"J. Clin. Oncol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1056\/NEJMoa1816714","article-title":"Pembrolizumab plus axitinib versus sunitinib for advanced renal-cell carcinoma","volume":"380","author":"Rini","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"3596","DOI":"10.7150\/jca.35738","article-title":"Determination of the Expression of PD-L1 in the Morphologic Spectrum of Renal Cell Carcinoma","volume":"11","author":"Walter","year":"2020","journal-title":"J. Cancer"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"789","DOI":"10.21037\/tau.2019.12.37","article-title":"The preliminary outcome of the combination of immunotherapy and targeted therapy after recurrence and metastasis for hereditary leiomyomatosis and renal cell cancer-a case report","volume":"9","author":"Feng","year":"2020","journal-title":"Transl. Androl. Urol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"6","DOI":"10.15586\/jkcvhl.2020.148","article-title":"A Case of Metastatic Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome-Associated Renal Cell Carcinoma Treated with a Sequence of Axitinib and Nivolumab Following Cytoreductive Nephrectomy","volume":"7","author":"Yonese","year":"2020","journal-title":"J. Kidney Cancer VHL"},{"key":"ref_13","unstructured":"Oomen, L., Leijte, E., Shilhan, D.E., and Battye, M. (2021). Members of ERN eUROGEN, Feitz WFJ. Rare and Complex Urology: Clinical Overview of ERN eUROGEN. Eur. Urol., 1\u20139."}],"container-title":["Current Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1718-7729\/28\/4\/216\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:24:19Z","timestamp":1760163859000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1718-7729\/28\/4\/216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,25]]},"references-count":13,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,8]]}},"alternative-id":["curroncol28040216"],"URL":"https:\/\/doi.org\/10.3390\/curroncol28040216","relation":{},"ISSN":["1718-7729"],"issn-type":[{"type":"electronic","value":"1718-7729"}],"subject":[],"published":{"date-parts":[[2021,6,25]]}}}