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Difference between revisions of "Hereditary leiomyomatosis and renal cell carcinoma syndrome"
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Hereditary leiomyomatosis and renal cell carcinoma syndrome (view source)
Revision as of 15:55, 16 March 2016
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==General== | ==General== | ||
*Autosomal dominant inheritance<ref name=pmid17895761>{{Cite journal | last1 = Merino | first1 = MJ. | last2 = Torres-Cabala | first2 = C. | last3 = Pinto | first3 = P. | last4 = Linehan | first4 = WM. | title = The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. | journal = Am J Surg Pathol | volume = 31 | issue = 10 | pages = 1578-85 | month = Oct | year = 2007 | doi = 10.1097/PAS.0b013e31804375b8 | PMID = 17895761 }}</ref> with variable penetration.<ref name=pmid24309325>{{Cite journal | last1 = Reyes | first1 = C. | last2 = Karamurzin | first2 = Y. | last3 = Frizzell | first3 = N. | last4 = Garg | first4 = K. | last5 = Nonaka | first5 = D. | last6 = Chen | first6 = YB. | last7 = Soslow | first7 = RA. | title = Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry. | journal = Mod Pathol | volume = 27 | issue = 7 | pages = 1020-7 | month = Jul | year = 2014 | doi = 10.1038/modpathol.2013.215 | PMID = 24309325 }}</ref> | *Autosomal dominant inheritance<ref name=pmid17895761>{{Cite journal | last1 = Merino | first1 = MJ. | last2 = Torres-Cabala | first2 = C. | last3 = Pinto | first3 = P. | last4 = Linehan | first4 = WM. | title = The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. | journal = Am J Surg Pathol | volume = 31 | issue = 10 | pages = 1578-85 | month = Oct | year = 2007 | doi = 10.1097/PAS.0b013e31804375b8 | PMID = 17895761 }}</ref> with variable penetration.<ref name=pmid24309325>{{Cite journal | last1 = Reyes | first1 = C. | last2 = Karamurzin | first2 = Y. | last3 = Frizzell | first3 = N. | last4 = Garg | first4 = K. | last5 = Nonaka | first5 = D. | last6 = Chen | first6 = YB. | last7 = Soslow | first7 = RA. | title = Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry. | journal = Mod Pathol | volume = 27 | issue = 7 | pages = 1020-7 | month = Jul | year = 2014 | doi = 10.1038/modpathol.2013.215 | PMID = 24309325 }}</ref> | ||
**In one series of 21 families: 62% renal cancer, 76% had cutaneous leiomyomas and 100% had [[uterine leiomyoma]]s.<ref name=pmid16597677>{{Cite journal | last1 = Pithukpakorn | first1 = M. | last2 = Wei | first2 = MH. | last3 = Toure | first3 = O. | last4 = Steinbach | first4 = PJ. | last5 = Glenn | first5 = GM. | last6 = Zbar | first6 = B. | last7 = Linehan | first7 = WM. | last8 = Toro | first8 = JR. | title = Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. | journal = J Med Genet | volume = 43 | issue = 9 | pages = 755-62 | month = Sep | year = 2006 | doi = 10.1136/jmg.2006.041087 | PMID = 16597677 }}</ref> | **In one series of 21 families: 62% had renal cancer, 76% had cutaneous leiomyomas and 100% had [[uterine leiomyoma]]s.<ref name=pmid16597677>{{Cite journal | last1 = Pithukpakorn | first1 = M. | last2 = Wei | first2 = MH. | last3 = Toure | first3 = O. | last4 = Steinbach | first4 = PJ. | last5 = Glenn | first5 = GM. | last6 = Zbar | first6 = B. | last7 = Linehan | first7 = WM. | last8 = Toro | first8 = JR. | title = Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. | journal = J Med Genet | volume = 43 | issue = 9 | pages = 755-62 | month = Sep | year = 2006 | doi = 10.1136/jmg.2006.041087 | PMID = 16597677 }}</ref> | ||
Features - clinical: | Features - clinical: | ||