Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome

被引：1

作者：

Dawson, Hannah ^{[1
]}

Smrke, Alannah ^{[1
]}

Ellery, Peter M. ^{[2
]}

Wilkinson, Nafisa ^{[2
]}

Rosenthal, Adam N. ^{[3
]}

McVeigh, Terri P. ^{[1
]}

机构：

[1] Royal Marsden Hosp NHS Fdn Trust, 203 Fulham Rd, London SW3 6JJ, England

[2] Univ Coll London Hosp NHS Fdn Trust, Dept Cellular Pathol, London, England

[3] UCL, Inst Womens Hlth, Dept Womens Canc, London, England

来源：

FAMILIAL CANCER | 2022年 / 21卷 / 03期

关键词：

PTEN; Cowden syndrome; Vulval fibroadenoma; Ectopic breast tissue; PTEN hamartoma tumour syndrome; GENOTYPE-PHENOTYPE CORRELATIONS; MAMMARY-LIKE GLANDS; COWDEN SYNDROME; CANCER; MUTATION; DISEASE; RISKS; GENE;

D O I：

10.1007/s10689-021-00275-9

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

PTEN is a tumour suppressor gene involved in regulating cell division. Pathogenic germline variants in PTEN predispose to benign and malignant growths of numerous organs, including of the breast. In the following report, we describe the first documented case of a fibroadenoma developing in ectopic breast tissue of the vulva in a patient with a germline pathogenic variant in PTEN. This highlights the risk of hyperplasia developing in any breast tissue, including rare ectopic sites, particularly in patients with underlying germline variants in cancer susceptibility genes.

引用

页码：363 / 368

页数：6

共 38 条

[1] Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome
Hannah Dawson
Alannah Smrke
Peter M. Ellery
Nafisa Wilkinson
Adam N. Rosenthal
Terri P. McVeigh
Familial Cancer, 2022, 21 : 363 - 368
[2] PTEN hamartoma tumour syndrome: early tumour development in children
Smpokou, Patroula
Fox, Victor L.
Tan, Wen-Hann
ARCHIVES OF DISEASE IN CHILDHOOD, 2015, 100 (01) : 34 - 37
[3] Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome
Schei-Andersen, Ane J.
van Oirschot, Bart
Drissen, Meggie M. C. M.
Schieving, Jolanda
Schuurs-Hoeijmakers, Janneke H. M.
Vos, Janet R.
Barton, Claire M.
Hoogerbrugge, Nicoline
INTERNATIONAL DENTAL JOURNAL, 2024, 74 (06) : 1424 - 1431
[4] FIBROADENOMA IN AN ECTOPIC BREAST TISSUE
Tamaknand, Vinod
Choudhary, Devender
Nangarwal, Bhawan
Godara, Rajesh
Garg, Pradeep
JOURNAL OF EVOLUTION OF MEDICAL AND DENTAL SCIENCES-JEMDS, 2016, 5 (47): : 3134 - +
[5] PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation?
Yehia, Lamis
Eng, Charis
HUMAN MOLECULAR GENETICS, 2020, 29 (R2) : R150 - R157
[6] A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children
Hansen-Kiss, Emily
Beinkampen, Sarah
Adler, Brent
Frazier, Thomas
Prior, Thomas
Erdman, Steven
Eng, Charis
Herman, Gail
JOURNAL OF MEDICAL GENETICS, 2017, 54 (07) : 471 - 478
[7] Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome
Drissen, Meggie M. C. M.
Schieving, Jolanda H.
Schuurs-Hoeijmakers, Janneke H. M.
Vos, Janet R.
Hoogerbrugge, Nicoline
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (12)
[8] A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome
Schwerd, Tobias
Khaled, Andrea V.
Schurmann, Manfred
Chen, Hannah
Handel, Norman
Reis, Andre
Gillessen-Kaesbach, Gabriele
Uhlig, Holm H.
Abou Jamra, Rami
EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (06) : 889 - 894
[9] Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome
Orloff, M. S.
Eng, C.
ONCOGENE, 2008, 27 (41) : 5387 - 5397
[10] Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome
M S Orloff
C Eng
Oncogene, 2008, 27 : 5387 - 5397

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