Patient with a DICER1 phenotype with multiple tumours, lacking a germline mutation - mosaic DICER1 mutation

被引：0
|
作者：
Knittel, R. [1 ]
Ng, M. [2 ]
Kiraly-Borri, C. [3 ]
Azmanov, D. [4 ]
Edwards, C. G. [4 ]
Parshotam [5 ]
Charles, A. [1 ]
机构：
[1] Perth Childrens Hosp, PathWest, Dept Anat Pathol, Perth, WA, Australia
[2] Perth Childrens Hosp, Dept Paediat & Adolescent Oncol & Bone Marrow Tra, Perth, WA, Australia
[3] Govt Western Australia, Genet Serv Western Australia, Dept Hlth, Perth, WA, Australia
[4] QEII, Dept Diagnost Genom, Perth, WA, Australia
[5] Perth Childrens Hosp, Dept Paediat Surg, Perth, WA, Australia
来源：
HISTOPATHOLOGY | 2022年 / 81卷
关键词：
D O I：
暂无
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
272
引用
收藏
页码：152 / 152
页数：1
相关论文
共 50 条
  • [1] Germline DICER1 Mutation and Sarcoma of the Ovary
    Kebudi, R.
    Schultz, K. A. P.
    Shah, R.
    Harris, A. K.
    Wilhelm, M.
    Bilgic, B.
    Warren, M.
    Darendeliler, E.
    Hill, D. A.
    Arndt, C. A.
    PEDIATRIC BLOOD & CANCER, 2018, 65 : S645 - S645
  • [2] DICER1 mutation and pituitary prolactinoma
    Cotton, Ellena
    Ray, David
    ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2018, : 1 - 4
  • [3] Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma
    Sabbaghian, Nelly
    Hamel, Nancy
    Srivastava, Archana
    Albrecht, Steffen
    Priest, John R.
    Foulkes, William D.
    JOURNAL OF MEDICAL GENETICS, 2012, 49 (07) : 417 - 419
  • [4] A Case of Primary Intracranial Sarcoma, DICER1-Mutant, in a Child with a Germline DICER1 Mutation
    Kosteniuk, Suzanne Elizabeth
    Michaiel, George
    Dunham, Christopher
    BRAIN SCIENCES, 2023, 13 (07)
  • [5] Multinodular Goiter in Children: An Important Pointer to a Germline DICER1 Mutation
    Rath, Shoshana R.
    Bartley, Anthony
    Charles, Adrian
    Powers, Neil
    Baynam, Gareth
    Jones, Timothy
    Priest, John R.
    Foulkes, William D.
    Choong, Catherine S. Y.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2014, 99 (06): : 1947 - 1948
  • [6] DICER1 Mutation in Follicular Neoplasm of the Thyroid
    Darbinyan, Armine
    Morotti, Raffaella
    Prasad, Manju
    Christison-Lagay, Emily
    Dinauer, Catherine
    Cai, Guoping
    Adeniran, Adebowale
    MODERN PATHOLOGY, 2019, 32
  • [7] DICER1 Mutation in Follicular Neoplasm of the Thyroid
    Darbinyan, Armine
    Morotti, Raffaella
    Prasad, Manju
    Christison-Lagay, Emily
    Dinauer, Catherine
    Cai, Guoping
    Adeniran, Adebowale
    LABORATORY INVESTIGATION, 2019, 99
  • [8] INTRACRANIAL SARCOMA WITH DICER1 MUTATION IN A PATIENT WITH NEUROFIBROMATOSIS TYPE 1
    Weisnicht, Allison
    Pytel, Nicholas
    NEURO-ONCOLOGY, 2024, 26
  • [9] A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1
    Ponten, Emeli
    Frisk, Sofia
    Taylan, Fulya
    Vaz, Raquel
    Wessman, Sandra
    de Kock, Leanne
    Pal, Niklas
    Foulkes, William D.
    Lagerstedt-Robinson, Kristina
    Nordgren, Ann
    JOURNAL OF MEDICAL GENETICS, 2022, 59 (02) : 141 - 146
  • [10] Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis
    Maria Apellaniz-Ruiz
    Nelly Sabbaghian
    Anne-Laure Chong
    Leanne de Kock
    Semra Cetinkaya
    Elvan Bayramoğlu
    Winand N. M. Dinjens
    W. Glenn McCluggage
    Anja Wagner
    Aslihan Arasli Yilmaz
    William D. Foulkes
    Familial Cancer, 2023, 22 : 487 - 493
12345