Cancer-associated genodermatoses: Skin neoplasms as clues to hereditary tumor syndromes

Ponti, Giovanni; Pellacani, Giovanni; Seidenari, Stefania; Pollio, Annamaria; Muscatello, Umberto; Tomasi, Aldo

doi:10.1016/j.critrevonc.2012.07.001

Cited by 62 publications

(54 citation statements)

References 127 publications

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“…74-78)), collecting duct, 71,74,75 and tubulopapillary 78 ) should receive genetic counseling referral. 79,80 Although studies of the proportion of isolated cases of cutaneous leiomyomas with an FH mutation are not available, 85% of individuals with cutaneous leiomyomas (some of whom were isolated cases and some of whom had a family history of uterine leiomyoma or renal cell tumors) had an FH mutation in several studies. [74][75][76][77]81 A FH mutation was found in 17% of patients with papillary type 2 renal cell carcinoma (RCC).…”

Section: Hereditary Leiomyomatosis and Renal Cell Cancer (Omim 605839mentioning

confidence: 99%

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Hampel

Bennett

Buchanan

et al. 2015

Genetics in Medicine

449

326

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Cancer genetic consultation services include the evaluation of patients' personal and family history for concerning features of hereditary cancer predisposition syndromes, development of a differential diagnosis for one or more possible hereditary cancer syndromes, genetic testing if indicated and available, recommendations for management, cancer surveillance and prevention, and information regarding genetic counseling and genetic testing for at-risk relatives. This counseling is informed by the genetic Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peerreviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their firstdegree relatives meet any of these referral criteria.

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Section: Hereditary Leiomyomatosis and Renal Cell Cancer (Omim 605839mentioning

confidence: 99%

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Hampel

Bennett

Buchanan

et al. 2015

Genetics in Medicine

449

326

View full text Add to dashboard Cite

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“…Otozomal dominant geçişli nadir rastlanılan Muir-Torre sendromu, "herediter nonpolipozis kolorektal kanser" sendromunun (Lynch sendromu) bir alt tipi olarak kabul edilmektedir 13 . "DNA mismatch repair (MMR)" genlerindeki (MSH2, MLH1, MSH6, MLH3 ve PMS2) mutasyon ile ilişkilendirilmiştir 21 21 . Bu sendromda görülebilecek sebase tümörler arasında sebaseom, sebase adenom ve karsinom, sebase farklılaşma gösteren bazal hücreli karsinom ve seboakantomlar bulunur 19,22 .…”

Section: Lentigo Simpleksunclassified

“…Senil sebase hiperplazi dışında kalan yağ bezi tümörlerinden herhangi biri olan hastalarda Muir-Torre sendromu yönünden aile öyküsü alınmalıdır. Ayrıca bu sendrom açısından hastaları tarama amaçlı sebase tümörlerin immunhistokimyasal inceleme veya mikrosatellit instabilitesi testi ile değerlendirilmesi önerilmiştir 21,22 . Viseral maliniteler arasında başlıca kolorektal ve genitoüriner malinitelere (endometrium, over, prostat, böbrek, üreter, mesane) eğilim artmıştır [20][21][22] .…”

Section: Lentigo Simpleksunclassified

“…Ayrıca bu sendrom açısından hastaları tarama amaçlı sebase tümörlerin immunhistokimyasal inceleme veya mikrosatellit instabilitesi testi ile değerlendirilmesi önerilmiştir 21,22 . Viseral maliniteler arasında başlıca kolorektal ve genitoüriner malinitelere (endometrium, over, prostat, böbrek, üreter, mesane) eğilim artmıştır [20][21][22] . Kolorektal kanserler genel populasyonda oluşan benzerlerine göre göreceli olarak daha iyi prognozludur 20 .…”

Section: Lentigo Simpleksunclassified

“…En sık tipi olan piloleiyomiyom genellikle ikinci ve dördüncü on yıllar arasında ortaya çıkar ve ailesel olabilir 31 . Başlıca ekstremiteler, gövde, bazen yüz ve boyunda yerleşir 21 . Birkaç mm ile birkaç cm arasında değişen çaplarda, kırmızımsı kahverengi, infiltre, hafif kabarık, dağınık veya küme oluşturmaya eğiliminde papülonodüller şeklinde görülür (Resim 8) 21 .…”

Section: Resim 6 Yüzde Yerleşen çOk Sayıda Deri Renginde Papüller: Tunclassified

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Selim deri tümörleri ve sistemik malinite ilişkisi

Yazganoğlu¹,

Baykal²

2013

TURKDERM

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ÖzetDerinin karmaşık histolojik görüntüsü ile ilişkili olarak çok sayıda selim deri tümörü tipi vardır. Bunlardan az bir bölümü sistemik maliniteler ile ilişki gösterebilir. Bu makalede sistemik maliniteler ile ilişkisi iyi bilinen veya tartışmalı olan selim deri tümörlerinden bahsedilecektir. Bahsi geçen tümörler ve ilişkili olduğu durumlar şunlardır: seboreik keratoz/ Leser-Trélat belirtisi, lentigo simpleks/ Peutz Jeghers ve Carney sendromu, yağ bezi tümörleri/Muir-Torre sendromu, fibrofoliküloma-trikodiskoma/ Birt-Hogg-Dubé sendromu, trikoepitelyom-silindrom-spiradenom/ BrookeSpiegler sendromu, leiomyom/ multipl kutane ve uterin leiyomiyomatozis sendromu, glomeruloid hemanjiyom/ POEMS sendromu, venöz malformasyon/ Maffucci sendromu, mukozal nörom/ multipl endokrin neoplazi tip 2B, jüvenil ksantogranülom/ jüvenil kronik miyeloid lösemi. Deri tümörleri ve ilişkili olduğu belirtilerin veya sendromların sistemik malinite riskinin bilinmesi, malinitelerin erken tanısı açısından önem taşır. Sum maryThere are various types of benign skin tumors in association with the complex nature of the skin. A minor part of them may be associated with visceral malignancies. This review focuses on the benign skin tumors that are described to have well-known associations with systemic malignancies or those with controversial associations. These tumors and the associated conditions are as follows: seborrheic keratosis/ Leser-Trélat sign, lentigo simplex/Peutz Jeghers and Carney syndrome, sebaceous tumors/ Muir-Torre syndrome, fibrofolliculoma-trichodiskoma/ Birt-Hogg-Dubé syndrome, trichoepitheliomacylindroma-spiradenoma/ Brooke-Spiegler syndrome, leiomyoma/multiple cutaneous and uterin leiomyomatosis syndrome, glomeruloid hemangioma/ POEMS syndrome, venous malformation/ Maffucci syndrome, mucosal neuroma/ multiple endocrine neoplasia type 2B, juvenile xanthogranuloma/ juvenile chronic myeloid leukemia. It is important to know the skin tumors related with visceral malignancies in part of a syndrome or in association with a sign as this may yield an earlier recognition of these malignancies. (Turkderm 2013; 47

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