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

Slides:

Advertisements

Similar presentations

CC Chemokine Receptor 5 and CXC Chemokine Receptor 6 Expression by Lung CD8+ Cells Correlates with Chronic Obstructive Pulmonary Disease Severity Christine.

Advertisements

Telomerase Activity and Expression of Telomerase RNA Component and Telomerase Catalytic Subunit Gene in Cervical Cancer Kenji Nakano, Elizabeth Watney,

Biallelic Inactivation of Fumarate Hydratase (FH) Occurs in Nonsyndromic Uterine Leiomyomas but Is Rare in Other Tumors Rainer Lehtonen, Maija Kiuru,

Thomas M. Williams The Journal of Molecular Diagnostics

Colorectal Pretumor Progression Before and After Loss of DNA Mismatch Repair Peter Calabrese, Jen-Lan Tsao, Yasushi Yatabe, Reijo Salovaara, Jukka-Pekka.

PTEN Mutational Spectra, Expression Levels, and Subcellular Localization in Microsatellite Stable and Unstable Colorectal Cancers Xiao-Ping Zhou, Anu.

Bone Marrow Transplant Engraftment Analysis with Loss of an Informative Allele Steven A. Schichman, Pei Lin, Lori J. Gilbrech, Pamela S. Gray, Carla S.

The Expression of AIP-Related Molecules in Elucidation of Cellular Pathways in Pituitary Adenomas Elina Heliövaara, Anniina Raitila, Virpi Launonen,

Triple-Negative Breast Cancer

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Viral M. Patel, MD, Marc Z. Handler, MD, Robert A

A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q Collette K. Hand, Jawad Khoris, François Salachas, François Gros-Louis, Ana.

Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3 Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.

Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping Adel Shalata, Hanna Mandel, Jochen.

Localization of a Gene (MCUL1) for Multiple Cutaneous Leiomyomata and Uterine Fibroids to Chromosome 1q42.3-q43 N.A. Alam, S. Bevan, M. Churchman, E.

Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p Shenghan Chen, William G. Ondo, Shaoqi Rao,

C. M. van Duijn, M. C. J. Dekker, V. Bonifati, R. J. Galjaard, J. J

I. Silveira, I. Alonso, L. Guimarães, P. Mendonça, C. Santos, P

Federico Canzian, Patrizia Amati, H

Bone Marrow Transplant Engraftment Analysis with Loss of an Informative Allele Steven A. Schichman, Pei Lin, Lori J. Gilbrech, Pamela S. Gray, Carla S.

A Larger Spectrum of Intragenic Short Tandem Repeats Improves Linkage Analysis and Localization of Intragenic Recombination Detection in the Dystrophin.

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

Tamara Rogers, David Chandler, Dora Angelicheva, P. K

Mapping of Primary Congenital Lymphedema to the 5q35.3 Region

Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America Jorge R. Toro, Michael L.

Molecular Aspects of Melanocytic Dysplastic Nevi

Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer Karen C. Wheeler,

Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome.

Evidence for a Nonallelic Heterogeneity of Epidermodysplasia Verruciformis with Two Susceptibility Loci Mapped to Chromosome Regions 2p21–p24 and 17q25

Identification of a Genetic Locus for Ichthyosis Vulgaris on Chromosome 10q22.3– q24.2 Ping Liu, Qingyu Yang, Xu Wang, Aiping Feng, Tao Yang, Rong Yang,

Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion Rýdvan S. Özen, Bora E. Baysal,

Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman

Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity Blanka Stibůrková,

A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1

The Gene for Human Fibronectin Glomerulopathy Maps to 1q32, in the Region of the Regulation of Complement Activation Gene Cluster Martin Vollmer, Martin.

Two Families with Familial Amyotrophic Lateral Sclerosis Are Linked to a Novel Locus on Chromosome 16q Deborah M. Ruddy, Matthew J. Parton, Ammar Al-Chalabi,

Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin Shagufta Khaliq,

A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24 C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing,

A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q Collette K. Hand, Jawad Khoris, François Salachas, François Gros-Louis, Ana.

Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A

A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters Franco Laccone, Wilhelm Christian The American.

Koji Suzuki, Tania Bustos, Richard A. Spritz

Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate Irene Pichler, Fabio Marroni,

Benjamin A. Rybicki, Robert C. Elston

Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.

Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene Fiona C. Mansergh, Sophia.

Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.

A Gene Locus Responsible for the Familial Hair Shaft Abnormality Pili Annulati Maps to Chromosome 12q24.32–24.33 Kathrin A. Giehl, Gertrud N. Eckstein,

Identification of a Novel Locus for Marie Unna Hereditary Hypotrichosis to a 17.5 cM Interval at 1p21.1–1q21.3 Sen Yang, Min Gao, Yong Cui, Kai-Lin Yan,

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

Familial Nontoxic Multinodular Thyroid Goiter Locus Maps to Chromosome 14q but Does Not Account for Familial Nonmedullary Thyroid Cancer Graham R. Bignell,

Quiz page answers August 2003

Xiangfeng Cui, Helen Feiner, Honghua Li

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider,

A Deletion Mutation in COL17A1 in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa Represents Propagation of an Ancestral.

This Month in AJKD American Journal of Kidney Diseases

Mapping of the Major Psoriasis-Susceptibility Locus (PSORS1) in a 70-Kb Interval around the Corneodesmosin Gene (CDSN) Sandro Orrù, Erika Giuressi, Carlo.

Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer Karen C. Wheeler,

A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23 Young-Ae Lee, Howard P.

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree Heymut Omran, Carmen Fernandez,

Quiz Page January 2010 American Journal of Kidney Diseases

Comparison of Genetic Profiles Between Primary Melanomas and their Metastases Reveals Genetic Alterations and Clonal Evolution During Progression Reiji.

Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping Bru Cormand, Kristiina Avela, Helena Pihko,

Quiz page December 2003 American Journal of Kidney Diseases

This Month in AJKD American Journal of Kidney Diseases

Minimum-Recombinant Haplotyping in Pedigrees

A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13 I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives,

Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation Yaoqin Gong, David Chitayat,

Presentation transcript:

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 825-829 (September 2001) DOI: 10.1016/S0002-9440(10)61757-9 Copyright © 2001 American Society for Investigative Pathology Terms and Conditions

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 2001 159, 825-829DOI: (10.1016/S0002-9440(10)61757-9) Copyright © 2001 American Society for Investigative Pathology Terms and Conditions

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 2001 159, 825-829DOI: (10.1016/S0002-9440(10)61757-9) Copyright © 2001 American Society for Investigative Pathology Terms and Conditions

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 2001 159, 825-829DOI: (10.1016/S0002-9440(10)61757-9) Copyright © 2001 American Society for Investigative Pathology Terms and Conditions