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
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Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. Journal of Medical Genetics, 37(11):828-830, 2000
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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
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Eng C. PTEN: one gene, many syndromes. Human Mutation, 22(3):183-198, 2003
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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
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Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. European Journal of Human Genetics, 16: 1289-1300, 2008
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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
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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
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Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011
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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
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Browning MJ, Chandra A, Carbonaro V, et al. Cowden's syndrome with immunodeficiency. Journal of Medical Genetics, 52: 856-859, 2015
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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
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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
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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