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Cowden sendromu

Bannayan-Zozana sendromu, Lhermitte-Duclos sendromu, Riley-Smith sendromu, Ruvalcaba-Myhre-Smith sendromu

Kalıtsal - AD

PTEN hamartoma tümör sendromu fenotipi

Makrosefali

Yüzde papüller (fasiyal trikolemmoma)

Mikrostomi

Ağızda papillomatozis (hiperkeratotik)

Gingival hiperplazi

Gingiva ve yanak mukozasında fibromatöz papüller

Dilde papüller

Dilde oluklar (skrotal dil)

Deri ve ağız mukozası karsinomu riski

Çenelerde hipoplazi

Çukur damak

Yumuşak damak hipoplazisi

Uvula hipo­plazisi

Deride papillomatöz oluşumlar

Deride mezenkimal tümörler (hemangiomlar)

Trikolemmoma

Avuç ve tabanda hiperkeratoz

Meme patolojileri (fibroadenomlar, fibrokistik lezyonlar, duktal hiperplazi/papilloma, hyalin nodülleri, karsinom riski)

Tiroid patolojileri (multinodular guatr, Hashimoto tiroiditi, adenom, karsinom)

Obezite riski

Genital sistem patolojileri (malformasyonlar, serviks ve ovaryum ca, ovaryum kistleri, uterus myomları, endometrium tümörleri)

Erkeklerde testislerde lipomatozis

Jine­komasti

Böbrek hücreli karsinom riski

GİS patolojileri (hamartomatöz polipler, kolorektal kanserler)

Kemiklerde litik alanlar

Kifoz/kifoskolyoz

Beyinde damarsal malformasyonlar

Gangliyositoma ve meningioma riski

İmmun yetmezlik bulguları

Otizm

Zeka geriliği

 

• Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. Journal of Medical Genetics, 37(11):828-830, 2000

• Laster Z, Temkin D, Zarfin Y, Kushnir A. Complete bony fusion of the mandible to the zygomatic complex and maxillary tuberosity: case report and review. International Journal of Maxillofacial Surgery, 30: 75-79, 2001

• Eng C. PTEN: one gene, many syndromes. Human Mutation, 22(3):183-198, 2003

• Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome (Commentary). Journal of Medical Genetics, 41: 323-326, 2004

• Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. European Journal of Human Genetics, 16: 1289-1300, 2008

• Tan M-H, Mester J, Peterson C, et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. American Journal of Human Genetics, 88: 42-56, 2011

• Pilarski R, Stephens JA, Noss R, et al. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. Journal of Medical Genetics, 48: 505-512, 2011

• Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

• Mester J, Eng C. When overgrowth bumps into cancer: the PTENopathies. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163C(2): 114–121, 2013

• Browning MJ, Chandra A, Carbonaro V, et al. Cowden's syndrome with immunodeficiency. Journal of Medical Genetics, 52: 856-859, 2015

• Yehia L, Niazi F, Ni Y, et al. Germline heterozygous variants in SEC23B are associated with Cowden syndrome and enriched in apparently sporadic thyroid cancer. American Journal of Human Genetics, 97: 661-676, 2015

• Driessen GJ, IJspeert H, Wentink M, et al. Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency. Journal of Allergy & Clinical Immunology, 138: 1744-1747, 2016

• Yu W, Ni Y, Saji M, et al. Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells. Human Molecular Genetics, 26(7):1365-1375, 2017