Using RB1 mutations to assess minimal residual disease in metastatic retinoblastoma

Translational Research : the Journal of Laboratory and Clinical Medicine
Helen DimarasHelen S L Chan

Abstract

To assess complete remission before subjecting nongermline metastatic retinoblastoma patients to an autologous peripheral stem cell transplant, we tested for patient-specific retinoblastoma tumor suppressor gene (RB1) mutant alleles in cerebrospinal fluid (CSF) and bone marrow. In 1 child with CSF and 1 with bone marrow metastases, allele-specific polymerase chain reaction (AS-PCR) detected the biallelic RB1 mutations specific to their tumors. The tumor of Child A was homozygous for R251X, and in Child B, it was homozygous for R358X. In Child A, the R251X mutation was detected in mutant controls diluted to 1:12,800 but not in CSF samples, corroborating clinical remission after chemotherapy. In Child B's bone marrow, AS-PCR for R358X was strongly positive at the detection of relapse, and subsequent bone marrow samples corroborated clinical remission after chemotherapy. No mutant tumor RB1 alleles were detected in their harvested peripheral blood stem cells. Both children were deemed suitable candidates for supralethal-dosage consolidation chemotherapy followed by autologous peripheral stem cell rescue of the bone marrow aimed at curing their metastatic retinoblastoma. When Child A recurred, the mutant tumor RB1 allele was detect...Continue Reading

References

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Dec 31, 2002·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Susan M BlaneyFrank M Balis
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Mar 13, 2009·Human Mutation·Diane RushlowBrenda L Gallie

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Citations

Jun 1, 2013·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Viviana E LaurentGuillermo L Chantada
Jan 18, 2014·Clinical & Experimental Ophthalmology·Brigitte L ThériaultTimothy W Corson
Mar 7, 2015·Paediatric Drugs·Guillermo Chantada, Paula Schaiquevich
May 15, 2015·Indian Journal of Ophthalmology·Helen Dimaras
Mar 15, 2012·Lancet·Helen DimarasBrenda L Gallie
May 30, 2015·Journal of Child Neurology·Michael V Ortiz, Ira J Dunkel
Jan 10, 2018·Journal of Neuroscience Research·Helen Dimaras, Timothy W Corson

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