Atypical presentations of RECQL4-related syndromes

Liron D. Grossman; Sarah Baldino; Kristin Zelley; Frank Balis; Rochelle Bagatell; Jennifer M. Kalish; Suzanne P. MacFarland

doi:10.1002/pbc.31315

Atypical presentations of RECQL4-related syndromes

Liron D. Grossman
, Sarah Baldino
, Kristin Zelley
, Frank Balis
, Rochelle Bagatell
, Jennifer M. Kalish
, Suzanne P. MacFarland

Sheba Medical Center at Tel Hashomer
The Children's Hospital of Philadelphia
University of Pennsylvania

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

RECQL4-related syndromes are a group of rare cancer-predisposition syndromes caused by biallelic pathogenic/likely pathogenic variants (PV/LPV) in the DNA helicase gene, RECQL4. Genetic testing is typically prompted by the presence of one or more hallmark clinical features, and in the absence of such manifestations, diagnosis may be delayed or even missed. We describe five patients with biallelic germline mutations in RECQL4 who presented atypically, without the hallmark clinical manifestations of this syndrome. Three of these patients developed osteosarcoma, underscoring the importance of recognizing atypical presentations of Rothmund–Thomson syndrome (RTS) to allow for early awareness and surveillance for cancer.

Original language	English
Article number	e31315
Journal	Pediatric Blood and Cancer
Volume	71
Issue number	12
DOIs	https://doi.org/10.1002/pbc.31315
State	Published - Dec 2024
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2024 The Author(s). Pediatric Blood & Cancer published by Wiley Periodicals LLC.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

RECQL4
Rothmund–Thompson syndrome
osteosarcoma

Access to Document

10.1002/pbc.31315

Cite this

@article{f13c81392db64f64a87084eb630b5132,

title = "Atypical presentations of RECQL4-related syndromes",

abstract = "RECQL4-related syndromes are a group of rare cancer-predisposition syndromes caused by biallelic pathogenic/likely pathogenic variants (PV/LPV) in the DNA helicase gene, RECQL4. Genetic testing is typically prompted by the presence of one or more hallmark clinical features, and in the absence of such manifestations, diagnosis may be delayed or even missed. We describe five patients with biallelic germline mutations in RECQL4 who presented atypically, without the hallmark clinical manifestations of this syndrome. Three of these patients developed osteosarcoma, underscoring the importance of recognizing atypical presentations of Rothmund–Thomson syndrome (RTS) to allow for early awareness and surveillance for cancer.",

keywords = "RECQL4, Rothmund–Thompson syndrome, osteosarcoma",

author = "Grossman, \{Liron D.\} and Sarah Baldino and Kristin Zelley and Frank Balis and Rochelle Bagatell and Kalish, \{Jennifer M.\} and MacFarland, \{Suzanne P.\}",

note = "Publisher Copyright: {\textcopyright} 2024 The Author(s). Pediatric Blood \& Cancer published by Wiley Periodicals LLC.",

year = "2024",

month = dec,

doi = "10.1002/pbc.31315",

language = "אנגלית",

volume = "71",

journal = "Pediatric Blood and Cancer",

issn = "1545-5009",

publisher = "Wiley-Liss Inc.",

number = "12",

}

TY - JOUR

T1 - Atypical presentations of RECQL4-related syndromes

AU - Grossman, Liron D.

AU - Baldino, Sarah

AU - Zelley, Kristin

AU - Balis, Frank

AU - Bagatell, Rochelle

AU - Kalish, Jennifer M.

AU - MacFarland, Suzanne P.

PY - 2024/12

Y1 - 2024/12

N2 - RECQL4-related syndromes are a group of rare cancer-predisposition syndromes caused by biallelic pathogenic/likely pathogenic variants (PV/LPV) in the DNA helicase gene, RECQL4. Genetic testing is typically prompted by the presence of one or more hallmark clinical features, and in the absence of such manifestations, diagnosis may be delayed or even missed. We describe five patients with biallelic germline mutations in RECQL4 who presented atypically, without the hallmark clinical manifestations of this syndrome. Three of these patients developed osteosarcoma, underscoring the importance of recognizing atypical presentations of Rothmund–Thomson syndrome (RTS) to allow for early awareness and surveillance for cancer.

AB - RECQL4-related syndromes are a group of rare cancer-predisposition syndromes caused by biallelic pathogenic/likely pathogenic variants (PV/LPV) in the DNA helicase gene, RECQL4. Genetic testing is typically prompted by the presence of one or more hallmark clinical features, and in the absence of such manifestations, diagnosis may be delayed or even missed. We describe five patients with biallelic germline mutations in RECQL4 who presented atypically, without the hallmark clinical manifestations of this syndrome. Three of these patients developed osteosarcoma, underscoring the importance of recognizing atypical presentations of Rothmund–Thomson syndrome (RTS) to allow for early awareness and surveillance for cancer.

KW - RECQL4

KW - Rothmund–Thompson syndrome

KW - osteosarcoma

UR - https://www.scopus.com/pages/publications/85204700629

U2 - 10.1002/pbc.31315

DO - 10.1002/pbc.31315

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

C2 - 39315607

AN - SCOPUS:85204700629

SN - 1545-5009

VL - 71

JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 12

M1 - e31315

ER -

Atypical presentations of RECQL4-related syndromes

Abstract

Bibliographical note

UN SDGs

Keywords

Access to Document

Other files and links

Fingerprint

Cite this