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J Pediatr Genet 2016; 05(02): 105-115
DOI: 10.1055/s-0036-1580597
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Syndrome-Associated Tumors by Organ System

Raul S. Gonzalez
1   Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, New York, United States
,
Nicole D. Riddle
2   Department of Pathology, Cunningham Pathology LLC, Birmingham, Alabama, United States
› Author Affiliations
Further Information

Publication History

03 August 2015

26 August 2015

Publication Date:
09 March 2016 (online)

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Abstract

Certain tumors suggest the possibility of a patient harboring a genetic syndrome, particularly in children. Syndrome-associated tumors of the gastrointestinal tract, genitourinary tract, gynecologic tract, heart, lungs, brain, eye, endocrine organs, and hematopoietic system will be briefly discussed.

Keywords

hereditary cancer - genetics - pediatric pathology
 

  • References

  • 1 American Cancer Society. Cancer in Children. Available at: http://www.cancer.org/cancer/cancerinchildren/index . Accessed March 02, 2016
    PubMedGoogle Scholar
  • 2 Schiffman JD, Geller JI, Mundt E, Means A, Means L, Means V. Update on pediatric cancer predisposition syndromes. Pediatr Blood Cancer 2013; 60 (8) 1247-1252
    CrossrefPubMedGoogle Scholar
  • 3 Issaivanan M, Redner A, Weinstein T , et al. Esophageal carcinoma in children and adolescents. J Pediatr Hematol Oncol 2012; 34 (1) 63-67
    CrossrefPubMedGoogle Scholar
  • 4 Bosman FT, Carniero F, Hruban RH, Theise ND. WHO Classification of Tumours of the Digestive System. 4th ed. Lyon, France: IARC Press; 2010
    Google Scholar
  • 5 Chak A, Ochs-Balcom H, Falk G , et al. Familiality in Barrett's esophagus, adenocarcinoma of the esophagus, and adenocarcinoma of the gastroesophageal junction. Cancer Epidemiol Biomarkers Prev 2006; 15 (9) 1668-1673
    CrossrefPubMedGoogle Scholar
  • 6 Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica 2008; 93 (4) 511-517
    CrossrefPubMedGoogle Scholar
  • 7 Akbari MR, Malekzadeh R, Lepage P , et al. Mutations in Fanconi anemia genes and the risk of esophageal cancer. Hum Genet 2011; 129 (5) 573-582
    CrossrefPubMedGoogle Scholar
  • 8 Robertson EV, Jankowski JA. Genetics of gastroesophageal cancer: paradigms, paradoxes, and prognostic utility. Am J Gastroenterol 2008; 103 (2) 443-449
    CrossrefPubMedGoogle Scholar
  • 9 Clarke CA, McCONNELL RB. Six cases of carcinoma of the oesophagus occurring in one family. BMJ 1954; 2 (4897) 1137-1138
    CrossrefPubMedGoogle Scholar
  • 10 de Souza CA, Santos AdaC, Santos LdaC, Carneiro AL. Hereditary tylosis syndrome and esophagus cancer [in Portuguese]. An Bras Dermatol 2009; 84 (5) 527-529
    PubMedGoogle Scholar
  • 11 Subbiah V, Varadhachary G, Herzog CE, Huh WW. Gastric adenocarcinoma in children and adolescents. Pediatr Blood Cancer 2011; 57 (3) 524-527
    CrossrefPubMedGoogle Scholar
  • 12 Vogelaar IP, van der Post RS, Bisseling TM, van Krieken JH, Ligtenberg MJ, Hoogerbrugge N. Familial gastric cancer: detection of a hereditary cause helps to understand its etiology. Hered Cancer Clin Pract 2012; 10 (1) 18
    CrossrefPubMedGoogle Scholar
  • 13 Chang VY, Federman N, Martinez-Agosto J, Tatishchev SF, Nelson SF. Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome. Pediatr Blood Cancer 2013; 60 (4) 570-574
    CrossrefPubMedGoogle Scholar
  • 14 Capelle LG, Van Grieken NC, Lingsma HF , et al. Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. Gastroenterology 2010; 138 (2) 487-492
    CrossrefPubMedGoogle Scholar
  • 15 Jakubowska A, Nej K, Huzarski T, Scott RJ, Lubiński J. BRCA2 gene mutations in families with aggregations of breast and stomach cancers. Br J Cancer 2002; 87 (8) 888-891
    CrossrefPubMedGoogle Scholar
  • 16 Hizawa K, Iida M, Yao T, Aoyagi K, Fujishima M. Juvenile polyposis of the stomach: clinicopathological features and its malignant potential. J Clin Pathol 1997; 50 (9) 771-774
    CrossrefPubMedGoogle Scholar
  • 17 Coffey Jr RJ, Knight Jr CD, van Heerden JA, Weiland LH. Gastric adenocarcinoma complicating Gardner's syndrome in a North American woman. Gastroenterology 1985; 88 (5 Pt 1): 1263-1266
    CrossrefPubMedGoogle Scholar
  • 18 Kaurah P, MacMillan A, Boyd N , et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 2007; 297 (21) 2360-2372
    CrossrefPubMedGoogle Scholar
  • 19 Guilford P, Hopkins J, Harraway J , et al. E-cadherin germline mutations in familial gastric cancer. Nature 1998; 392 (6674) 402-405
    CrossrefPubMedGoogle Scholar
  • 20 van der Post RS, Vogelaar IP, Carneiro F , et al. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet 2015; 52 (6) 361-374
    CrossrefPubMedGoogle Scholar
  • 21 Pandalai PK, Lauwers GY, Chung DC, Patel D, Yoon SS. Prophylactic total gastrectomy for individuals with germline CDH1 mutation. Surgery 2011; 149 (3) 347-355
    CrossrefPubMedGoogle Scholar
  • 22 Gaston D, Hansford S, Oliveira C , et al. Germline mutations in MAP3K6 are associated with familial gastric cancer. PLoS Genet 2014; 10 (10) e1004669
    CrossrefPubMedGoogle Scholar
  • 23 Kirmani S, Young WF. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [Updated 2014 Nov 6]. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington; 1993. –2015. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1548 . Accessed March 02, 2016
    Google Scholar
  • 24 Carney JA, Stratakis CA. Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Am J Med Genet 2002; 108 (2) 132-139
    CrossrefPubMedGoogle Scholar
  • 25 Miettinen M, Wang ZF, Sarlomo-Rikala M, Osuch C, Rutkowski P, Lasota J. Succinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age. Am J Surg Pathol 2011; 35 (11) 1712-1721
    CrossrefPubMedGoogle Scholar
  • 26 McWhinney SR, Pasini B, Stratakis CA ; International Carney Triad and Carney-Stratakis Syndrome Consortium. Familial gastrointestinal stromal tumors and germ-line mutations. N Engl J Med 2007; 357 (10) 1054-1056
    CrossrefPubMedGoogle Scholar
  • 27 Chantada GL, Perelli VB, Lombardi MG , et al. Colorectal carcinoma in children, adolescents, and young adults. J Pediatr Hematol Oncol 2005; 27 (1) 39-41
    CrossrefPubMedGoogle Scholar
  • 28 Hill DA, Furman WL, Billups CA , et al. Colorectal carcinoma in childhood and adolescence: a clinicopathologic review. J Clin Oncol 2007; 25 (36) 5808-5814
    CrossrefPubMedGoogle Scholar
  • 29 Kravarusic D, Feigin E, Dlugy E , et al. Colorectal carcinoma in childhood: a retrospective multicenter study. J Pediatr Gastroenterol Nutr 2007; 44 (2) 209-211
    CrossrefPubMedGoogle Scholar
  • 30 Sultan I, Rodriguez-Galindo C, El-Taani H , et al. Distinct features of colorectal cancer in children and adolescents: a population-based study of 159 cases. Cancer 2010; 116 (3) 758-765
    CrossrefPubMedGoogle Scholar
  • 31 Durno CA, Gallinger S. Genetic predisposition to colorectal cancer: new pieces in the pediatric puzzle. J Pediatr Gastroenterol Nutr 2006; 43 (1) 5-15
    CrossrefPubMedGoogle Scholar
  • 32 Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB. Hamartomatous polyposis syndromes: a review. Orphanet J Rare Dis 2014; 9: 101
    CrossrefPubMedGoogle Scholar
  • 33 Brosens LA, van Hattem A, Hylind LM , et al. Risk of colorectal cancer in juvenile polyposis. Gut 2007; 56 (7) 965-967
    CrossrefPubMedGoogle Scholar
  • 34 Jass JR, Williams CB, Bussey HJ, Morson BC. Juvenile polyposis—a precancerous condition. Histopathology 1988; 13 (6) 619-630
    CrossrefPubMedGoogle Scholar
  • 35 Burkart AL, Sheridan T, Lewin M, Fenton H, Ali NJ, Montgomery E. Do sporadic Peutz-Jeghers polyps exist? Experience of a large teaching hospital. Am J Surg Pathol 2007; 31 (8) 1209-1214
    CrossrefPubMedGoogle Scholar
  • 36 Resta N, Pierannunzio D, Lenato GM , et al; AIFEG. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis 2013; 45 (7) 606-611
    CrossrefPubMedGoogle Scholar
  • 37 van Lier MG, Westerman AM, Wagner A , et al. High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut 2011; 60 (2) 141-147
    CrossrefPubMedGoogle Scholar
  • 38 Hobert JA, Eng C. PTEN hamartoma tumor syndrome: an overview. Genet Med 2009; 11 (10) 687-694
    CrossrefPubMedGoogle Scholar
  • 39 Stanich PP, Owens VL, Sweetser S , et al. Colonic polyposis and neoplasia in Cowden syndrome. Mayo Clin Proc 2011; 86 (6) 489-492
    CrossrefPubMedGoogle Scholar
  • 40 Nielsen M, Joerink-van de Beld MC, Jones N , et al. Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology 2009; 136 (2) 471-476
    CrossrefPubMedGoogle Scholar
  • 41 Nielsen M, Franken PF, Reinards TH , et al. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 2005; 42 (9) e54
    CrossrefPubMedGoogle Scholar
  • 42 Datta RV, LaQuaglia MP, Paty PB. Genetic and phenotypic correlates of colorectal cancer in young patients. N Engl J Med 2000; 342 (2) 137-138
    CrossrefPubMedGoogle Scholar
  • 43 Gonzalez RS, Shulman SC, Katzenstein HM , et al. Colorectal adenocarcinoma: a pediatric case review with a focus on mismatch repair gene mutations and E-cadherin expression. Pediatr Dev Pathol 2012; 15 (3) 192-198
    CrossrefPubMedGoogle Scholar
  • 44 Huang SC, Durno CA, Erdman SH. Lynch syndrome: a pediatric perspective. J Pediatr Gastroenterol Nutr 2014; 58 (2) 144-152
    CrossrefPubMedGoogle Scholar
  • 45 Durno C, Aronson M, Bapat B, Cohen Z, Gallinger S. Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. Gut 2005; 54 (8) 1146-1150
    CrossrefPubMedGoogle Scholar
  • 46 Bhaijee F, Brown AS. Muir-Torre syndrome. Arch Pathol Lab Med 2014; 138 (12) 1685-1689
    CrossrefPubMedGoogle Scholar
  • 47 Paraf F, Jothy S, Van Meir EG. Brain tumor-polyposis syndrome: two genetic diseases?. J Clin Oncol 1997; 15 (7) 2744-2758
    CrossrefPubMedGoogle Scholar
  • 48 Dipro S, Al-Otaibi F, Alzahrani A, Ulhaq A, Al Shail E. Turcot syndrome: a synchronous clinical presentation of glioblastoma multiforme and adenocarcinoma of the colon. Case Rep Oncol Med 2012; 2012: 720273
    PubMedGoogle Scholar
  • 49 Wimmer K, Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica 2010; 95 (5) 699-701
    CrossrefPubMedGoogle Scholar
  • 50 Walter AW, Ennis S, Best H , et al. Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies. Pediatr Blood Cancer 2013; 60 (11) E135-E136
    CrossrefPubMedGoogle Scholar
  • 51 Yurgelun MB, Masciari S, Joshi VA , et al; Colon Cancer Family Registry. Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry. JAMA Oncol 2015; 1 (2) 214-221
    CrossrefPubMedGoogle Scholar
  • 52 Fishman SJ, Smithers CJ, Folkman J , et al. Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding. Ann Surg 2005; 241 (3) 523-528
    CrossrefPubMedGoogle Scholar
  • 53 Wouters V, Limaye N, Uebelhoer M , et al. Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. Eur J Hum Genet 2010; 18 (4) 414-420
    CrossrefPubMedGoogle Scholar
  • 54 Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisited. Pediatrics 2009; 123 (1) 124-133
    CrossrefPubMedGoogle Scholar
  • 55 Agaimy A, Vassos N, Croner RS. Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations. Int J Clin Exp Pathol 2012; 5 (9) 852-862
    PubMedGoogle Scholar
  • 56 Andersson J, Sihto H, Meis-Kindblom JM, Joensuu H, Nupponen N, Kindblom LG. NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics. Am J Surg Pathol 2005; 29 (9) 1170-1176
    CrossrefPubMedGoogle Scholar
  • 57 Fendrich V, Ramaswamy A, Slater EP, Bartsch DK. Duodenal somatostatinoma associated with Von Recklinghausen's disease. J Hepatobiliary Pancreat Surg 2004; 11 (6) 417-421
    CrossrefPubMedGoogle Scholar
  • 58 Fuller CE, Williams GT. Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen's disease). Histopathology 1991; 19 (1) 1-11
    CrossrefPubMedGoogle Scholar
  • 59 Pappo AS, Janeway K, Laquaglia M, Kim SY. Special considerations in pediatric gastrointestinal tumors. J Surg Oncol 2011; 104 (8) 928-932
    CrossrefPubMedGoogle Scholar
  • 60 Heuschkel R, Kim S, Korf B, Schneider G, Bousvaros A. Abdominal migraine in children with neurofibromatosis type 1: a case series and review of gastrointestinal involvement in NF1. J Pediatr Gastroenterol Nutr 2001; 33 (2) 149-154
    CrossrefPubMedGoogle Scholar
  • 61 Benesch M, Wardelmann E, Ferrari A, Brennan B, Verschuur A. Gastrointestinal stromal tumors (GIST) in children and adolescents: A comprehensive review of the current literature. Pediatr Blood Cancer 2009; 53 (7) 1171-1179
    CrossrefPubMedGoogle Scholar
  • 62 Beghini A, Tibiletti MG, Roversi G , et al. Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. Cancer 2001; 92 (3) 657-662
    CrossrefPubMedGoogle Scholar
  • 63 Smith VV, Eng C, Milla PJ. Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment. Gut 1999; 45 (1) 143-146
    CrossrefPubMedGoogle Scholar
  • 64 Tiszlavicz L, Kapin M, Várkonyi A, Lõrincz A, Bartyik K, Várkonyi T. Adenocarcinoma of the colon developing on the basis of Crohn's disease in childhood. Eur J Pediatr 2001; 160 (3) 168-172
    CrossrefPubMedGoogle Scholar
  • 65 Herzog CE, Andrassy RJ, Eftekhari F. Childhood cancers: hepatoblastoma. Oncologist 2000; 5 (6) 445-453
    CrossrefPubMedGoogle Scholar
  • 66 Litten JB, Tomlinson GE. Liver tumors in children. Oncologist 2008; 13 (7) 812-820
    CrossrefPubMedGoogle Scholar
  • 67 DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry. J Pediatr 1998; 132 (3 Pt 1) 398-400
    CrossrefPubMedGoogle Scholar
  • 68 Ko JM. Genetic syndromes associated with overgrowth in childhood. Ann Pediatr Endocrinol Metab 2013; 18 (3) 101-105
    CrossrefPubMedGoogle Scholar
  • 69 McNeil DE, Brown M, Ching A, DeBaun MR. Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: a cost-effective model. Med Pediatr Oncol 2001; 37 (4) 349-356
    CrossrefPubMedGoogle Scholar
  • 70 Trobaugh-Lotrario AD, Venkatramani R, Feusner JH. Hepatoblastoma in children with Beckwith-Wiedemann syndrome: does it warrant different treatment?. J Pediatr Hematol Oncol 2014; 36 (5) 369-373
    CrossrefPubMedGoogle Scholar
  • 71 Walther A, Tiao G. Approach to pediatric hepatocellular carcinoma. Clin Liver Dis 2013; 2 (5) 219-222
    CrossrefPubMedGoogle Scholar
  • 72 Esquivel CO, Mieles L, Marino IR , et al. Liver transplantation for hereditary tyrosinemia in the presence of hepatocellular carcinoma. Transplant Proc 1989; 21 (1 Pt 2) 2445-2446
    PubMedGoogle Scholar
  • 73 Franco LM, Krishnamurthy V, Bali D , et al. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J Inherit Metab Dis 2005; 28 (2) 153-162
    CrossrefPubMedGoogle Scholar
  • 74 Kim B, Park SH, Yang HR, Seo JK, Kim WS, Chi JG. Hepatocellular carcinoma occurring in alagille syndrome. Pathol Res Pract 2005; 201 (1) 55-60
    CrossrefPubMedGoogle Scholar
  • 75 Patil MM, Patil SV. Ataxia telangiectasia with hepatocellular carcinoma. Indian Pediatr 2009; 46 (6) 546
    PubMedGoogle Scholar
  • 76 Shorter NA, Glick RD, Klimstra DS, Brennan MF, Laquaglia MP. Malignant pancreatic tumors in childhood and adolescence: The Memorial Sloan-Kettering experience, 1967 to present. J Pediatr Surg 2002; 37 (6) 887-892
    CrossrefPubMedGoogle Scholar
  • 77 Drut R, Jones MC. Congenital pancreatoblastoma in Beckwith-Wiedemann syndrome: an emerging association. Pediatr Pathol 1988; 8 (3) 331-339
    CrossrefPubMedGoogle Scholar
  • 78 Larson AM, Hedgire SS, Deshpande V , et al. Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex. Clin Genet 2012; 82 (6) 558-563
    CrossrefPubMedGoogle Scholar
  • 79 Chun SG, Yee NS. Werner syndrome as a hereditary risk factor for exocrine pancreatic cancer: potential role of WRN in pancreatic tumorigenesis and patient-tailored therapy. Cancer Biol Ther 2010; 10 (5) 430-437
    CrossrefPubMedGoogle Scholar
  • 80 Vasen HF, Gruis NA, Frants RR, van Der Velden PA, Hille ET, Bergman W. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer 2000; 87 (6) 809-811
    CrossrefPubMedGoogle Scholar
  • 81 Malkan AD, Loh A, Bahrami A , et al. An approach to renal masses in pediatrics. Pediatrics 2015; 135 (1) 142-158
    CrossrefPubMedGoogle Scholar
  • 82 Dome JS, Huff V. Wilms Tumor Overview. 2003 Dec 19 [Updated 2013 Sep 19]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993. –2015. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1294 . Accessed March 02, 2016
    Google Scholar
  • 83 Scott RH, Stiller CA, Walker L, Rahman N. Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet 2006; 43 (9) 705-715
    CrossrefPubMedGoogle Scholar
  • 84 Slade I, Bacchelli C, Davies H , et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet 2011; 48 (4) 273-278
    CrossrefPubMedGoogle Scholar
  • 85 Northrup H, Krueger DA ; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013; 49 (4) 243-254
    CrossrefPubMedGoogle Scholar
  • 86 Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics 2011; 127 (1) e117-e125
    CrossrefPubMedGoogle Scholar
  • 87 Eble JN. Angiomyolipoma of kidney. Semin Diagn Pathol 1998; 15 (1) 21-40
    PubMedGoogle Scholar
  • 88 Kubo M, Iwashita K, Oyachi N, Oyama T, Yamamoto T. Two different types of infantile renal cell carcinomas associated with tuberous sclerosis. J Pediatr Surg 2011; 46 (10) E37-E41
    PubMedGoogle Scholar
  • 89 Shepherd CW, Gomez MR, Lie JT, Crowson CS. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991; 66 (8) 792-796
    CrossrefPubMedGoogle Scholar
  • 90 Neumann HP, Zbar B. Renal cysts, renal cancer and von Hippel-Lindau disease. Kidney Int 1997; 51 (1) 16-26
    CrossrefPubMedGoogle Scholar
  • 91 Toro JR, Nickerson ML, Wei MH , et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 2003; 73 (1) 95-106
    CrossrefPubMedGoogle Scholar
  • 92 Benusiglio PR, Giraud S, Deveaux S , et al; French National Cancer Institute Inherited Predisposition to Kidney Cancer Network. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet J Rare Dis 2014; 9: 163
    CrossrefPubMedGoogle Scholar
  • 93 Kluijt I, de Jong D, Teertstra HJ , et al. Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome. Clin Genet 2009; 75 (6) 537-543
    CrossrefPubMedGoogle Scholar
  • 94 Ricketts CJ, Shuch B, Vocke CD , et al. Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. J Urol 2012; 188 (6) 2063-2071
    CrossrefPubMedGoogle Scholar
  • 95 Williamson SR, Eble JN, Amin MB , et al. Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma. Mod Pathol 2015; 28 (1) 80-94
    CrossrefPubMedGoogle Scholar
  • 96 Shuch B, Ricketts CJ, Vocke CD , et al. Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer. J Urol 2013; 190 (6) 1990-1998
    CrossrefPubMedGoogle Scholar
  • 97 Haas NB, Nathanson KL. Hereditary kidney cancer syndromes. Adv Chronic Kidney Dis 2014; 21 (1) 81-90
    CrossrefPubMedGoogle Scholar
  • 98 Hussein S, Satturwar S, Van der Kwast T. Young-age prostate cancer. J Clin Pathol 2015; 68 (7) 511-515
    CrossrefPubMedGoogle Scholar
  • 99 Raymond VM, Mukherjee B, Wang F , et al. Elevated risk of prostate cancer among men with Lynch syndrome. J Clin Oncol 2013; 31 (14) 1713-1718
    CrossrefPubMedGoogle Scholar
  • 100 Bujons A, Caffaratti J, Garat JM, Villavicencio H. Long-term follow-up of transitional cell carcinoma of the bladder in childhood. J Pediatr Urol 2014; 10 (1) 167-170
    CrossrefPubMedGoogle Scholar
  • 101 Umlauf VN, Coerdt W, Leuschner I, Schröder A, Stein R, Beetz R. How to Name Papillary Tumors of the Bladder in Children: Transitional Cell Carcinoma or Papillary Urothelial Neoplasm of Low Malignant Potential?. Urology 2015; 86 (2) 379-383 Epub ahead of print
    CrossrefPubMedGoogle Scholar
  • 102 Hemminki K, Bermejo JL, Ji J, Kumar R. Familial bladder cancer and the related genes. Curr Opin Urol 2011; 21 (5) 386-392
    CrossrefPubMedGoogle Scholar
  • 103 van der Post RS, Kiemeney LA, Ligtenberg MJ , et al. Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet 2010; 47 (7) 464-470
    CrossrefPubMedGoogle Scholar
  • 104 Ciftci AO, Bingöl-Koloğlu M, Senocak ME, Tanyel FC, Büyükpamukçu M, Büyükpamukçu N. Testicular tumors in children. J Pediatr Surg 2001; 36 (12) 1796-1801
    CrossrefPubMedGoogle Scholar
  • 105 Peters JA, Vadaparampil ST, Kramer J , et al. Familial testicular cancer: interest in genetic testing among high-risk family members. Genet Med 2006; 8 (12) 760-770
    CrossrefPubMedGoogle Scholar
  • 106 Dieckmann KP, Rübe C, Henke RP. Association of Down's syndrome and testicular cancer. J Urol 1997; 157 (5) 1701-1704
    CrossrefPubMedGoogle Scholar
  • 107 Ezaki J, Hashimoto K, Asano T , et al. Gonadal tumor in Frasier syndrome: a review and classification. Cancer Prev Res (Phila) 2015; 8 (4) 271-276
    CrossrefPubMedGoogle Scholar
  • 108 Wang Z, Yang S, Shi H , et al. Histopathological and immunophenotypic features of testicular tumour of the adrenogenital syndrome. Histopathology 2011; 58 (7) 1013-1018
    CrossrefPubMedGoogle Scholar
  • 109 Risch HA, McLaughlin JR, Cole DE , et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 2006; 98 (23) 1694-1706
    CrossrefPubMedGoogle Scholar
  • 110 Kennedy RD, Boughey JC. Management of pediatric and adolescent breast masses. Semin Plast Surg 2013; 27 (1) 19-22
    Article in Thieme ConnectPubMedGoogle Scholar
  • 111 Kaneda HJ, Mack J, Kasales CJ, Schetter S. Pediatric and adolescent breast masses: a review of pathophysiology, imaging, diagnosis, and treatment. AJR Am J Roentgenol 2013; 200 (2) W204-12
    PubMedGoogle Scholar
  • 112 Brooks GA, Stopfer JE, Erlichman J, Davidson R, Nathanson KL, Domchek SM. Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic. Cancer Biol Ther 2006; 5 (9) 1098-1102
    CrossrefPubMedGoogle Scholar
  • 113 Masciari S, Dillon DA, Rath M , et al. Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort. Breast Cancer Res Treat 2012; 133 (3) 1125-1130
    CrossrefPubMedGoogle Scholar
  • 114 Ahmed M, Rahman N. ATM and breast cancer susceptibility. Oncogene 2006; 25 (43) 5906-5911
    CrossrefPubMedGoogle Scholar
  • 115 Mester J, Eng C. Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. J Surg Oncol 2015; 111 (1) 125-130
    CrossrefPubMedGoogle Scholar
  • 116 Pharoah PD, Guilford P, Caldas C ; International Gastric Cancer Linkage Consortium. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 2001; 121 (6) 1348-1353
    CrossrefPubMedGoogle Scholar
  • 117 Stoffel E, Mukherjee B, Raymond VM , et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 2009; 137 (5) 1621-1627
    CrossrefPubMedGoogle Scholar
  • 118 Meyer LA, Broaddus RR, Lu KH. Endometrial cancer and Lynch syndrome: clinical and pathologic considerations. Cancer Contr 2009; 16 (1) 14-22
    PubMedGoogle Scholar
  • 119 Vasen HF, Watson P, Mecklin JP , et al. The epidemiology of endometrial cancer in hereditary nonpolyposis colorectal cancer. Anticancer Res 1994; 14 (4B): 1675-1678
    PubMedGoogle Scholar
  • 120 Gravholt CH, Fedder J, Naeraa RW, Müller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab 2000; 85 (9) 3199-3202
    CrossrefPubMedGoogle Scholar
  • 121 Brant WO, Rajimwale A, Lovell MA , et al. Gonadoblastoma and Turner syndrome. J Urol 2006; 175 (5) 1858-1860
    CrossrefPubMedGoogle Scholar
  • 122 Elnaggar AC, Spunt SL, Smith W, Depas M, Santoso JT. Endometrial cancer in a 15-year-old girl: A complication of Cowden Syndrome. Gynecol Oncol Case Rep 2012; 3: 18-19
    PubMedGoogle Scholar
  • 123 Dehner LP, Jarzembowski JA, Hill DA. Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations. Mod Pathol 2012; 25 (4) 602-614
    CrossrefPubMedGoogle Scholar
  • 124 Vidaillet Jr HJ. Cardiac tumors associated with hereditary syndromes. Am J Cardiol 1988; 61 (15) 1355
    CrossrefPubMedGoogle Scholar
  • 125 Becker AE. Primary heart tumors in the pediatric age group: a review of salient pathologic features relevant for clinicians. Pediatr Cardiol 2000; 21 (4) 317-323
    CrossrefPubMedGoogle Scholar
  • 126 Atalay S, Aypar E, Uçar T , et al. Fetal and neonatal cardiac rhabdomyomas: clinical presentation, outcome and association with tuberous sclerosis complex. Turk J Pediatr 2010; 52 (5) 481-487
    PubMedGoogle Scholar
  • 127 Bossert T, Walther T, Vondrys D, Gummert JF, Kostelka M, Mohr FW. Cardiac fibroma as an inherited manifestation of nevoid basal-cell carcinoma syndrome. Tex Heart Inst J 2006; 33 (1) 88-90
    PubMedGoogle Scholar
  • 128 Correa R, Salpea P, Stratakis CA. Carney complex: an update. Eur J Endocrinol 2015; 173 (4) M85-M97
    CrossrefPubMedGoogle Scholar
  • 129 Priest JR, Williams GM, Manera R , et al. Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma—a report from the International Pleuropulmonary Blastoma Registry. Br J Ophthalmol 2011; 95 (7) 1001-1005
    CrossrefPubMedGoogle Scholar
  • 130 Dishop MK, Kuruvilla S. Primary and metastatic lung tumors in the pediatric population: a review and 25-year experience at a large children's hospital. Arch Pathol Lab Med 2008; 132 (7) 1079-1103
    PubMedGoogle Scholar
  • 131 Hancock E, Tomkins S, Sampson J, Osborne J. Lymphangioleiomyomatosis and tuberous sclerosis. Respir Med 2002; 96 (1) 7-13
    CrossrefPubMedGoogle Scholar
  • 132 Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med 2009; 266 (1) 43-52
    CrossrefPubMedGoogle Scholar
  • 133 Nowak DA, Trost HA, Porr A, Stölzle A, Lumenta CB. Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum). Clin Neurol Neurosurg 2001; 103 (2) 105-110
    CrossrefPubMedGoogle Scholar
  • 134 Joly M, Valmary-Degano S, Cattin F, Vasiljevic A, Jouvet A, Viennet G. Cerebellar gangliocytoma in an 11-year-old child [in French]. Ann Pathol 2014; 34 (6) 477-480
    CrossrefPubMedGoogle Scholar
  • 135 Bhat S, Ming X, Dekermenjian R, Chokroverty S. Continuous spike and wave in slow-wave sleep in a patient with Rett syndrome and in a patient with Lhermitte-Duclos syndrome and neurofibromatosis 1. J Child Neurol 2014; 29 (12) NP176-NP180
    CrossrefPubMedGoogle Scholar
  • 136 Sévenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O. Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 1999; 65 (5) 1342-1348
    CrossrefPubMedGoogle Scholar
  • 137 Sredni ST, Tomita T. Rhabdoid tumor predisposition syndrome. Pediatr Dev Pathol 2015; 18 (1) 49-58
    CrossrefPubMedGoogle Scholar
  • 138 Benavente CA, Dyer MA. Genetics and epigenetics of human retinoblastoma. Annu Rev Pathol 2015; 10: 547-562
    CrossrefPubMedGoogle Scholar
  • 139 Knudson Jr AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971; 68 (4) 820-823
    CrossrefPubMedGoogle Scholar
  • 140 Blanquet V, Turleau C, Gross-Morand MS, Sénamaud-Beaufort C, Doz F, Besmond C. Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. Hum Mol Genet 1995; 4 (3) 383-388
    CrossrefPubMedGoogle Scholar
  • 141 Rao AA, Naheedy JH, Chen JY, Robbins SL, Ramkumar HL. A clinical update and radiologic review of pediatric orbital and ocular tumors. J Oncol 2013; 2013: 975908
    PubMedGoogle Scholar
  • 142 Denayer E, Devriendt K, de Ravel T , et al. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer 2010; 49 (3) 242-252
    PubMedGoogle Scholar
  • 143 Jongmans MC, van der Burgt I, Hoogerbrugge PM , et al. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. Eur J Hum Genet 2011; 19 (8) 870-874
    CrossrefPubMedGoogle Scholar
  • 144 Vaisman F, Corbo R, Vaisman M. Thyroid carcinoma in children and adolescents-systematic review of the literature. J Thyroid Res 2011; 2011: 845362
    PubMedGoogle Scholar
  • 145 Richards ML. Familial syndromes associated with thyroid cancer in the era of personalized medicine. Thyroid 2010; 20 (7) 707-713
    CrossrefPubMedGoogle Scholar
  • 146 Hall JE, Abdollahian DJ, Sinard RJ. Thyroid disease associated with Cowden syndrome: A meta-analysis. Head Neck 2013; 35 (8) 1189-1194
    CrossrefPubMedGoogle Scholar
  • 147 Cameselle-Teijeiro J, Chan JK. Cribriform-morular variant of papillary carcinoma: a distinctive variant representing the sporadic counterpart of familial adenomatous polyposis-associated thyroid carcinoma?. Mod Pathol 1999; 12 (4) 400-411
    PubMedGoogle Scholar
  • 148 Iwama T, Mishima Y, Utsunomiya J. The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment. Ann Surg 1993; 217 (2) 101-108
    CrossrefPubMedGoogle Scholar
  • 149 Fisher JP, Tweddle DA. Neonatal neuroblastoma. Semin Fetal Neonatal Med 2012; 17 (4) 207-215
    CrossrefPubMedGoogle Scholar
  • 150 McHugh K. Renal and adrenal tumours in children. Cancer Imaging 2007; 7: 41-51
    CrossrefPubMedGoogle Scholar
  • 151 Seif AE. Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis. Cancer Genet 2011; 204 (5) 227-244
    CrossrefPubMedGoogle Scholar
  • 152 German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet 1997; 93 (1) 100-106
    CrossrefPubMedGoogle Scholar
  • 153 Arora H, Chacon AH, Choudhary S , et al. Bloom syndrome. Int J Dermatol 2014; 53 (7) 798-802
    CrossrefPubMedGoogle Scholar
  • 154 Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis 2012; 7: 13
    CrossrefPubMedGoogle Scholar
  • 155 Taylor AM, Metcalfe JA, Thick J, Mak YF. Leukemia and lymphoma in ataxia telangiectasia. Blood 1996; 87 (2) 423-438
    PubMedGoogle Scholar
  • 156 Oliveira JB. The expanding spectrum of the autoimmune lymphoproliferative syndromes. Curr Opin Pediatr 2013; 25 (6) 722-729
    PubMedGoogle Scholar
  • 157 Straus SE, Jaffe ES, Puck JM , et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 2001; 98 (1) 194-200
    CrossrefPubMedGoogle Scholar
  • 158 Rabin KR, Whitlock JA. Malignancy in children with trisomy 21. Oncologist 2009; 14 (2) 164-173
    CrossrefPubMedGoogle Scholar