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When the second comes first- rhabdomyosarcoma preceding heritable retinoblastoma- a case report.
Tripathy, Devjyoti; Moulin, Alexandre; Bijon, Jacques; Gengler, Carole; Beck-Popovic, Maja; Munier, Francis L; Stathopoulos, Christina.
Afiliación
  • Tripathy D; LV Prasad Eye Institute, MTC Campus, Bhubaneswar, Odisha, India.
  • Moulin A; Fondation Asile des Aveugles, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
  • Bijon J; Fondation Asile des Aveugles, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
  • Gengler C; Fondation Asile des Aveugles, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
  • Beck-Popovic M; Unit of Pathology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
  • Munier FL; Unit of Pediatric Hematology-Oncology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
  • Stathopoulos C; Fondation Asile des Aveugles, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
BMC Ophthalmol ; 24(1): 47, 2024 Jan 30.
Article en En | MEDLINE | ID: mdl-38291358
ABSTRACT

BACKGROUND:

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. CASE PRESENTATION 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.

CONCLUSIONS:

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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinoblastoma / Rabdomiosarcoma / Neoplasias Primarias Secundarias / Neoplasias de la Retina Tipo de estudio: Diagnostic_studies / Guideline Límite: Child / Humans Idioma: En Revista: BMC Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinoblastoma / Rabdomiosarcoma / Neoplasias Primarias Secundarias / Neoplasias de la Retina Tipo de estudio: Diagnostic_studies / Guideline Límite: Child / Humans Idioma: En Revista: BMC Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido