Distantly Metastatic Retinoblastoma to Soft Tissue and Bone: A Challenging Diagnosis Highlighting the Utility of CRX.
Am J Surg Pathol
; 45(6): 820-824, 2021 06 01.
Article
em En
| MEDLINE
| ID: mdl-33165094
ABSTRACT
Distant metastasis of retinoblastoma to sites outside the central nervous system is rare; such cases may present years following primary treatment. Diagnosis may be difficult given the rarity of such events and considerable histologic mimics. We describe the clinicopathologic features of 6 cases of metastatic retinoblastoma to distant bone and soft tissue sites from 2 large academic centers. Patients were 3 female and 3 male children; median age was 9.5 years (range 5 to 15 y) with a mean interval from primary disease diagnosis of 8.0 years (range 0.75 to 14 y). Metastasis to bones of the lower extremities was most common, occurring in 4 of 6 cases. Tumors showed typical histologic features of retinoblastoma, with sheets of primitive round cells with minimal cytoplasm and indistinct nucleoli; however, characteristic Flexner-Wintersteiner rosettes were absent. A subset of cases demonstrated an alveolar growth pattern, and 2 cases showed higher grade cytology with nuclear anaplasia and prominent nucleoli. Immunohistochemistry for CRX and RB1 showed uniform positivity and loss of expression, respectively. Metastatic retinoblastoma outside the central nervous system may present following long disease-free intervals. Immunohistochemistry for CRX is helpful to confirm this challenging diagnosis.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Retinoblastoma
/
Neoplasias de Tecidos Moles
/
Neoplasias Ósseas
/
Imuno-Histoquímica
/
Biomarcadores Tumorais
/
Transativadores
/
Proteínas de Homeodomínio
/
Neoplasias da Retina
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
America do norte
Idioma:
En
Revista:
Am J Surg Pathol
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Marrocos