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PAX3‐NCOA1 alveolar rhabdomyosarcoma of the tongue: A rare entity with challenging diagnosis and management
Author(s) -
Di Carlo Daniela,
Chargari Cyrus,
Scoazec JeanYves,
Cotteret Sophie,
Felix Arthur,
Moalla Salma,
Temam Stephane,
MinardColin Véronique
Publication year - 2021
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.29288
Subject(s) - medicine , alveolar rhabdomyosarcoma , tongue , pax3 , lymph node , dissection (medical) , rhabdomyosarcoma , surgery , pathology , sarcoma , biochemistry , chemistry , transcription factor , gene
Alveolar rhabdomyosarcoma (ARMS) is associated with PAX3/PAX7‐FOXO1 fusion, which confers specific clinic and biologic characteristics with inferior outcomes. A minority of tumors still histologically classified as “true” ARMS lack the canonical PAX‐FOXO1 fusion but have new molecular alterations. We present the first case of PAX3‐NCOA1 ARMS with clinical data and follow‐up in a two‐year‐old girl with ARMS of the tongue and nodal extension, treated with chemotherapy, hemi glossectomy, lymph node dissection, and brachytherapy to conserve oral function and limit long‐term sequelae. Given the rarity of such variant fusion in ARMS, international collaboration is required to evaluate its prognostic value.