TY - JOUR
T1 - Navigating Management of Spindle Cell/Sclerosing Rhabdomyosarcoma With FUS::TFCP2 Fusion in the Era of Targeted Therapy
AU - Okeleji, Olayinka
AU - Raj, Reeja
AU - Farha, Sherani
AU - Ehab, Hanna
AU - Paulino, Arnold C.
AU - Salvador, Laura
AU - Choi, Jeanie
AU - Williams, Michelle
AU - Harrison, Douglas
N1 - Copyright © 2025 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2026/1/1
Y1 - 2026/1/1
N2 - Spindle cell/sclerosing rhabdomyosarcoma (ssRMS) with FUS-TFCP2 translocation is a rare, aggressive RMS subtype often involving facial and pelvic bones and showing poor response to standard therapy. The FUS-TFCP2 fusion drives ALK gene activation and overexpression, suggesting ALK as a therapeutic target, though clinical use of ALK inhibitors remains limited in this context. We report a case of mandibular ssRMS with FUS-TFCP2 fusion treated with the third-generation ALK inhibitor Lorlatinib, resulting in a marked clinical response. We also review the potential utility of ALK-targeted therapies in managing FUS-TFCP2 fusion-positive ssRMS and support further exploration of ALK inhibition in this subset.
AB - Spindle cell/sclerosing rhabdomyosarcoma (ssRMS) with FUS-TFCP2 translocation is a rare, aggressive RMS subtype often involving facial and pelvic bones and showing poor response to standard therapy. The FUS-TFCP2 fusion drives ALK gene activation and overexpression, suggesting ALK as a therapeutic target, though clinical use of ALK inhibitors remains limited in this context. We report a case of mandibular ssRMS with FUS-TFCP2 fusion treated with the third-generation ALK inhibitor Lorlatinib, resulting in a marked clinical response. We also review the potential utility of ALK-targeted therapies in managing FUS-TFCP2 fusion-positive ssRMS and support further exploration of ALK inhibition in this subset.
KW - ALK inhibitor
KW - molecular alterations
KW - rhabdomyosarcoma
KW - spindle cell sclerosing
KW - target therapy
KW - Aminopyridines/therapeutic use
KW - Pyrazoles
KW - Humans
KW - Male
KW - Lactams/therapeutic use
KW - Molecular Targeted Therapy
KW - Repressor Proteins/genetics
KW - Rhabdomyosarcoma/genetics
KW - Lactams, Macrocyclic/therapeutic use
KW - Transcription Factors
KW - Oncogene Proteins, Fusion/genetics
KW - RNA-Binding Protein FUS/genetics
KW - DNA-Binding Proteins
KW - FUS-TFCP2
UR - https://www.scopus.com/pages/publications/105026371855
U2 - 10.1097/MPH.0000000000003140
DO - 10.1097/MPH.0000000000003140
M3 - Article
C2 - 41359882
AN - SCOPUS:105026371855
SN - 1077-4114
VL - 48
SP - e29-e34
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
IS - 1
ER -