Minimally disseminated disease and outcome in overt orbital retinoblastoma

Pediatr Blood Cancer. 2019 Jun;66(6):e27662. doi: 10.1002/pbc.27662. Epub 2019 Feb 25.

Abstract

In this retrospective study of patients with overt orbital retinoblastoma, we evaluated minimally disseminated disease (MDD) in bone marrow and cerebrospinal fluid (CSF) using CRX and/or GD2 synthase as markers. Ten patients were evaluated-five (50%) at diagnosis and five upon relapse. MDD was detected in four cases (one in the bone marrow, two in the CSF, and in one case in both sites). All patients received chemotherapy and four received orbital radiotherapy. Seven patients relapsed or progressed and all of them died. Three patients remain in complete remission. There was no apparent correlation between MDD and the outcome.

Keywords: minimal residual disease; molecular biology; pediatric hematology/oncology; retinoblastoma; tumor markers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
  • Biomarkers, Tumor / cerebrospinal fluid
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Bone Marrow / metabolism*
  • Bone Marrow / pathology
  • Female
  • Follow-Up Studies
  • Homeodomain Proteins / cerebrospinal fluid
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism*
  • Humans
  • Male
  • N-Acetylgalactosaminyltransferases / cerebrospinal fluid
  • N-Acetylgalactosaminyltransferases / genetics
  • N-Acetylgalactosaminyltransferases / metabolism*
  • Neoplasm Recurrence, Local / metabolism
  • Neoplasm Recurrence, Local / mortality
  • Neoplasm Recurrence, Local / pathology
  • Neoplasm Recurrence, Local / therapy
  • Neoplasm, Residual / metabolism
  • Neoplasm, Residual / mortality*
  • Neoplasm, Residual / pathology
  • Neoplasm, Residual / therapy
  • Orbital Neoplasms / metabolism
  • Orbital Neoplasms / mortality*
  • Orbital Neoplasms / pathology
  • Orbital Neoplasms / therapy
  • Prognosis
  • Prospective Studies
  • Radiotherapy Dosage
  • Retinal Neoplasms / metabolism
  • Retinal Neoplasms / mortality
  • Retinal Neoplasms / pathology
  • Retinal Neoplasms / therapy
  • Retinoblastoma / metabolism
  • Retinoblastoma / mortality*
  • Retinoblastoma / pathology
  • Retinoblastoma / therapy
  • Retrospective Studies
  • Survival Rate
  • Trans-Activators / cerebrospinal fluid
  • Trans-Activators / genetics
  • Trans-Activators / metabolism*
  • Young Adult

Substances

  • Biomarkers, Tumor
  • Homeodomain Proteins
  • Trans-Activators
  • cone rod homeobox protein
  • N-Acetylgalactosaminyltransferases
  • (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase