Molecular detection of metastatic retinoblastoma cells by reverse transcription polymerase reaction for interphotoreceptor retinoid-binding protein MRNA

Abstract

BACKGROUND In the current study, the authors report a 4 year old girl with disseminated retinoblastoma. To find sensitive and specific molecular markers for detection of retinoblastoma cells in blood and marrow, the authors evaluated three photoreceptor‐associated gene transcripts by using reverse transcription polymerase chain reaction (RT‐PCR). METHOD Samples of bone marrow and blood were obtained from healthy donors and the patient. RT‐PCR was performed to detect the cone α′‐subunit of cGMP phosphodiesterase (cone α′‐PDE), the rod β‐subunit of cGMP (rod β‐PDE), and the interphotoreceptor retinoid‐binding protein (IRBP) gene transcript in RNA extracted from the samples. RESULTS While no expression of rod β‐PDE or IRBP was detected in any of the normal samples, expression of cone α′‐PDE was detected in two out of seven normal marrow samples. Expression of rod β‐PDE was not detected in the patient samples. Expression of IRBP was detected in the patient samples obtained from iliac bone marrow before intensive chemotherapy but not thereafter. CONCLUSION RT‐PCR for IRBP was a useful method for detecting metastatic retinoblastoma cells as well as for evaluating the therapeutic effects of treatment in this particular case. Cancer 2001;91:1568–73. © 2001 American Cancer Society.

A multidisciplinary treatment strategy that includes high-dose chemotherapy for metastatic retinoblastoma without CNS involvement

“…[12][13][14][15][16][17][18][19][20] Namouni et al 14 conducted a study of HDC consisting of carboplatin, etoposide and cyclophosphamide (CARBOPEC) followed by autologous SCT in 25 patients, including 12 patients with distant metastases. Among eight children with bone and BM metastases, five survived between 11 and 70 months disease free, while three patients with CNS metastases relapsed in the CNS after HDC and died.…”

Optimization of molecular detection of GD2 synthase mRNA in retinoblastoma

“…More recently, Yamashita et al (35) presented a case report of a patient with disseminated rB and evaluated three different gene sequences: cone α'-subunit of cGMP phosphodiesterase, rod β'-subunit of cGMP phosphodiesterase (rod β-Pde) and interphosphoreceptor retinoid-binding protein (irBP). The authors concluded that molecular detection of irBP is useful in cases of disseminated rB to ascertain the safety of stem cell transplantation, and that both irBP and rod β-Pde are more suitable for monitoring the effectiveness of chemotherapy.…”

Interphotoreceptor retinoid-binding protein (IRBP)-deficient C57BL/6 mice have enhanced immunological and immunopathogenic responses to IRBP and an altered recognition of IRBP epitopes

“…IRBP is a retinoid and fatty acid-binding glycolipoprotein (MWw140 kDa) found in the retinal interphotoreceptor matrix, in pinealocytes and in some retinoblastoma-derived cell lines [1,23]. IRBP has a four-fold repeat structure with 30% to 40% amino acid sequence identity shared among the repeats, and is evolutionarily conserved among species [16,21].…”