Report of 2 Pediatric Cases With Li-Fraumeni Syndrome Related Malignancy in a Family

被引：1

作者：

Takeoka, Mami ^{[1
]}

Toyoda, Hidemi ^{[1
]}

Hirayama, Junya ^{[1
]}

Suzuki, Naofumi ^{[1
]}

Hanaki, Ryo ^{[1
]}

Amano, Keishiro ^{[1
]}

Iwamoto, Shotaro ^{[1
]}

Hirayama, Masahiro ^{[1
]}

机构：

[1] Mie Univ, Dept Pediat, Grad Sch Med, 2-174 Edobashi, Tsu, Mie 5148507, Japan

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2021年 / 43卷 / 04期

关键词：

Li-Fraumeni syndrome; adrenocortical carcinoma; rhabdomyosarcoma; TP53 MUTATION CARRIERS; IMAGING SURVEILLANCE; BREAST-CANCER; P53; GENE; SARCOMAS; TUMOR;

D O I：

10.1097/MPH.0000000000001862

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Li-Fraumeni syndrome (LFS) is a rare inherited disease characterized by a high and early-onset cancer risk. A cancer surveillance program is important to reduce cancer-related morbidity and mortality in individuals with LFS. We report 2 pediatric cases with LFS-related malignancy in a family. Eight-year-old elder brother was diagnosed with adrenocortical carcinoma and was found to have a heterozygous missense germline mutation c.736A>G: p.Met246Val in the TP53 gene. Cancer screening led to the diagnosis of rhabdomyosarcoma at a curable stage in his 2-year-old younger brother. Comprehensive surveillance resulted in early tumor detection and improved survival.

引用

页码：E567 / E570

页数：4

共 50 条

[21] Li-Fraumeni Syndrome: A case report and discussion
Hendry, P
Whitford, P
SCOTTISH MEDICAL JOURNAL, 2005, 50 (03) : 130 - 131
[22] An audit of Li Fraumeni syndrome and Li-Fraumeni like syndrome
Khoury, Lara
Douglas, S. F.
Brennan, P.
Henderson, A.
JOURNAL OF MEDICAL GENETICS, 2010, 47 : S112 - S112
[23] Li-Fraumeni Syndrome and the Role of the Pediatric Nurse Practitioner
Parsons, Melissa
CLINICAL JOURNAL OF ONCOLOGY NURSING, 2011, 15 (01) : 79 - 87
[24] Prenatal diagnosis history of a Li-Fraumeni syndrome family
Güran, S
Tunca, Y
CANCER GENETICS AND CYTOGENETICS, 2005, 157 (02) : 191 - 191
[25] Primary orbital liposarcoma in Li-Fraumeni cancer family syndrome:: A case report
Poli, T
Laganà, F
Caradonna, L
Gobbi, R
Corradi, D
Sesenna, E
TUMORI, 2005, 91 (01) : 96 - 100
[26] Distinct NSCLC EGFR Variants in a Family With Li-Fraumeni Syndrome: Case Report
Edmondson, Shelby
von Itzstein, Mitchell S.
Reys, Brian
Mayer, Melissa
Gagan, Jeffrey
Gerber, David E.
JTO CLINICAL AND RESEARCH REPORTS, 2022, 3 (08):
[27] Li-Fraumeni syndrome heterogeneity
Gargallo, P.
Yanez, Y.
Segura, V.
Juan, A.
Torres, B.
Balaguer, J.
Oltra, S.
Castel, V.
Canete, A.
CLINICAL & TRANSLATIONAL ONCOLOGY, 2020, 22 (07): : 978 - 988
[28] Hematologic malignancies in Li-Fraumeni syndrome: A case report
Bundrant, Bethany
Gerstein, Yoheved
Arun, Banu
DiNardo, Courtney D.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (07)
[29] Update on Li-Fraumeni syndrome
Dutzmann, C. M.
Vogel, J.
Kratz, C. P.
Pajtler, K. W.
Pfister, S. M.
Doergeloh, B. B.
PATHOLOGE, 2019, 40 (06): : 592 - 599
[30] CLINICAL OUTCOME OF PEDIATRIC MEDULLOBLASTOMA PATIENTS WITH LI-FRAUMENI SYNDROME
Kolodziejczak, Anna
Guerrini-Rousseau, Lea
Planchon, Julien Masliah
Ecker, Jonas
Selt, Florian
Mynarek, Martin
Obrecht, Denise
Sill, Martin
Hirsch, Steffen
Sturm, Dominik
Waszak, Sebastian M.
Ramaswamy, Vijay
Pentikainen, Virve
Demir, Haci Ahmet
Clifford, Steven C.
Schwalbe, Ed
Massimi, Luca
Snuderl, Matija
Galbraith, Kristyn
Karajannis, Matthias A.
Hill, Katie
Li, Bryan
White, Christine L.
Redmond, Shelagh
Loizos, Loizou
Jakob, Marcus
Kordes, Uwe
Schmid, Irene
Hauer, Julia
Blattmann, Claudia
Filippidou, Maria
Scheurlen, Wolfram
Kontny, Udo
Grund, Kerstin
Sutter, Christian
Pietsch, Torsten
van Tilburg, Cornelis M.
Frank, Stephan
Schewe, Denis M.
Malkin, David
Taylor, Michael D.
Tabori, Uri
Bouffet, Eric
Kool, Marcel
Sahm, Felix
Von Deimling, Andreas
Korshunov, Andrey
Von Hoff, Katja
Kratz, Christian
Jones, David T. W.
NEURO-ONCOLOGY, 2022, 24 : 107 - 107

← 1 2 3 4 5 →