RESUMEN
International and national oncofertility networks, including the US-led Oncofertility Consortium, FertiProtekt, and the Danish Network, have played pivotal roles in advancing the discipline of oncofertility over the last decade. Many other countries lack a shared approach to pediatric oncofertility health service delivery. This study aims to describe baseline oncofertility practices at Australian New Zealand Children's Haematology/Oncology Group centers in 2019-2021, describe binational priorities for care, and propose a 5-year action plan for best practice to be implemented by the newly formed Australian New Zealand Consortium in Children, Adolescents, and Young Adults (CAYA) Oncofertility (ANZCO).
Asunto(s)
Preservación de la Fertilidad , Neoplasias , Humanos , Adolescente , Nueva Zelanda , Preservación de la Fertilidad/métodos , Niño , Neoplasias/terapia , Neoplasias/complicaciones , Adulto Joven , Femenino , Australia , Masculino , AdultoRESUMEN
Rhabdomyosarcoma (RMS) represents the most common soft tissue sarcoma in the pediatric age group. While RMS has been traditionally classified on the basis of its histological appearance (with embryonal and alveolar being most common), it is now clear that the PAX-FOXO1 fusion product drives prognosis. We report here a case of pelvic embryonal RMS in a 3-month-old male who was subsequently found to have developed brain metastases during the course of chemotherapy. Cytogenetic analysis of the brain metastases at the time of autopsy as well as next-generation sequencing analysis revealed a reciprocal translocation involving the SH3 domain containing ring finger 3 gene (SH3RF3, on chromosome 2q13) and the Lipase C gene (LIPC, on chromosome 15q21.3). Due to the poor quality of the pretreatment and postresection samples, cytogenetics and NGS analysis looking for the presence of this balanced translocation in these specimens could not be performed. To the authors' knowledge, this translocation has never been described in RMS. Further studies are needed to determine the biological and clinical implications of this novel translocation.
Asunto(s)
Cromosomas Humanos Par 15/genética , Cromosomas Humanos Par 2/genética , Rabdomiosarcoma Embrionario/genética , Translocación Genética , Proteína Forkhead Box O1/genética , Humanos , Lactante , Lipasa/genética , Masculino , Proteínas de Fusión Oncogénica/genética , Factores de Transcripción Paired Box/genética , Rabdomiosarcoma Embrionario/patología , Ubiquitina-Proteína Ligasas/genéticaRESUMEN
A 10-year-old boy presents with a rare case of primary cutaneous Ewing sarcoma. The left-sided chest wall lesion was initially thought to be a benign haemangioma and treated with cryotherapy. Within 4 months, the lesion returned and post excision was found to be primary cutaneous Ewing sarcoma on histology. Few cases of primary cutaneous Ewing sarcoma exist in the literature, and although it is a rare differential for paediatric skin lesions, it is an important consideration due to the associated mortality risk in this young cohort.
