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Familial Cutaneous Leiomyomatosis Is a Two-Hit Condition Associated with Renal Cell Cancer of Characteristic Histopathology  Maija Kiuru, Virpi Launonen,

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Presentation on theme: "Familial Cutaneous Leiomyomatosis Is a Two-Hit Condition Associated with Renal Cell Cancer of Characteristic Histopathology  Maija Kiuru, Virpi Launonen,"— Presentation transcript:

1 Familial Cutaneous Leiomyomatosis Is a Two-Hit Condition Associated with Renal Cell Cancer of Characteristic Histopathology  Maija Kiuru, Virpi Launonen, Marja Hietala, Kristiina Aittomäki, Outi Vierimaa, Reijo Salovaara, Johanna Arola, Eero Pukkala, Pertti Sistonen, Riitta Herva, Lauri A. Aaltonen  The American Journal of Pathology  Volume 159, Issue 3, Pages (September 2001) DOI: /S (10) Copyright © 2001 American Society for Investigative Pathology Terms and Conditions

2 Figure 1 Pedigree of the multiple cutaneous leiomyomatosis kindred studied. For reasons of confidentiality, haplotypes of the unaffected individuals are not shown. One healthy individual had the disease-associated haplotype. The observed recombinations fine map the interval containing the disease locus as reported by Launonen and colleagues17(between D1S517 and D1S404; black bar depicts the shared region in the current family). The American Journal of Pathology  , DOI: ( /S (10) ) Copyright © 2001 American Society for Investigative Pathology Terms and Conditions

3 Figure 2 LOH analysis of seven cutaneous leiomyomas with markers D1S547 and D1S423. N depicts the normal tissue (blood) DNA-derived germline alleles. All seven lesions displayed LOH (arrow depicts the lost allele) at both loci, as well as D1S517 (not shown). The American Journal of Pathology  , DOI: ( /S (10) ) Copyright © 2001 American Society for Investigative Pathology Terms and Conditions

4 Figure 3 Histopathology of the kidney cancer of individual II-4, showing typical HLRCC features. A: Papillary structure of the renal cancer (H&E; original magnification, ×100). B: Characteristic cytology with prominent eosinophilic nucleoli. Single apoptotic cell are visible (H&E; original magnification, ×400). The American Journal of Pathology  , DOI: ( /S (10) ) Copyright © 2001 American Society for Investigative Pathology Terms and Conditions


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