When the second comes first- rhabdomyosarcoma preceding heritable retinoblastoma- a case report.

Détails

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Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_A8188C39E6B0
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
When the second comes first- rhabdomyosarcoma preceding heritable retinoblastoma- a case report.
Périodique
BMC ophthalmology
Auteur⸱e⸱s
Tripathy D., Moulin A., Bijon J., Gengler C., Beck-Popovic M., Munier F.L., Stathopoulos C.
ISSN
1471-2415 (Electronic)
ISSN-L
1471-2415
Statut éditorial
Publié
Date de publication
30/01/2024
Peer-reviewed
Oui
Volume
24
Numéro
1
Pages
47
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: epublish
Résumé
Retinoblastoma (rb) is the most frequent intraocular tumor, accounting for 3% of all childhood cancers. Heritable rb survivors are germline carriers for an RB1 mutation and have a lifelong risk to develop non-ocular second primary tumors (SPTs) involving multiple other organs like the bones, soft tissues, or skin. These SPTs usually become manifest several years succeeding the diagnosis of rb. In our instance, however, a non-ocular SPT presented prior to the diagnosis of heritable rb.
We report a rare case of a monozygotic twin who presented with primary rhabdomyosarcoma (RMS) preceding the manifestation of heritable rb. The rb was diagnosed when the child developed strabismus while already on therapy for the RMS. The child underwent therapy for both as per defined treatment protocols. The rb regressed well on treatment, but the RMS relapsed and the child developed multiple refractory metastatic foci and succumbed to his disease.
Non-ocular SPTs like sarcomas are usually known to manifest in heritable rb survivors with a lag of two to three decades (earlier if exposure to radiation is present) from the presentation of the rb. However, in our case, this seemed to be reversed with the RMS being manifest at an unusual early age and the rb being diagnosed at a later point in time.
Mots-clé
Child, Humans, Mutation, Neoplasms, Second Primary/diagnosis, Neoplasms, Second Primary/genetics, Retinal Neoplasms/diagnosis, Retinal Neoplasms/genetics, Retinal Neoplasms/pathology, Retinoblastoma/diagnosis, Retinoblastoma/genetics, Retinoblastoma/pathology, Rhabdomyosarcoma/diagnosis, Rhabdomyosarcoma/genetics, Twins, Monozygotic, Case report, Non-ocular, Retinoblastoma, Rhabdomyosarcoma, Second primary tumors
Pubmed
Web of science
Open Access
Oui
Création de la notice
01/02/2024 15:30
Dernière modification de la notice
13/02/2024 7:23
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