Abstract
Clonal chromosome anomalies may be found in the bone marrow (BM) of patients with Shwachman syndrome, who are at risk to develop myelodysplastic syndromes and/or acute myeloid leukemias. In particular, an isochromosome i(7)(q10) is frequent, and is usually monitored by chromosome analyses. We tested an approach by real-time quantitative polymerase chain reaction (RQ-PCR) on a chromosome 7 polymorphism. Five DNA samples of 2 Shwachman syndrome patients with clonal i(7)(q10) in the BM were used. Both were heterozygous for the diallelic indel polymorphism MID1064, which maps in 7q35. The percentage of i(7)(q10)-positive cells was extrapolated from the ratio of the 2 alleles measured by means of an allele-specific RQ-PCR assay. The results were compared with cytogenetic analyses on the same material used for RQ-PCR. In 1 patient, the RQ-PCR results matched well with those of chromosome analyses, whereas in the other one RQ-PCR showed that around 40% of the BM cells were abnormal, while they resulted to be nearly 80% with conventional monitoring assays. As the results obtained by RQ-PCR refer to the DNA of around 128,000 BM cells, our method proved to be feasible and more efficient in the quantitative evaluation of the i(7)(q10)-positive clone than conventional ones.
| Original language | English |
|---|---|
| Pages (from-to) | 163-165 |
| Number of pages | 3 |
| Journal | Journal of Pediatric Hematology/Oncology |
| Volume | 29 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Mar 2007 |
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Keywords
- i(7)(q10)
- Real-time quantitative PCR
- Shwachman syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Oncology
- Hematology
Cite this
Monitoring the isochromosome i(7)(q10) in the bone marrow of patients with shwachman syndrome by real-time quantitative PCR. / Porta, Giovanni; Mattarucchi, Elia; Maserati, Emanuela; Pressato, Barbara; Valli, Roberto; Morerio, Cristina; Zecca, Marco; Panarello, Claudio; Locatelli, Franco; Lo Curto, Francesco; Pasquali, Francesco.
In: Journal of Pediatric Hematology/Oncology, Vol. 29, No. 3, 03.2007, p. 163-165.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Monitoring the isochromosome i(7)(q10) in the bone marrow of patients with shwachman syndrome by real-time quantitative PCR
AU - Porta, Giovanni
AU - Mattarucchi, Elia
AU - Maserati, Emanuela
AU - Pressato, Barbara
AU - Valli, Roberto
AU - Morerio, Cristina
AU - Zecca, Marco
AU - Panarello, Claudio
AU - Locatelli, Franco
AU - Lo Curto, Francesco
AU - Pasquali, Francesco
PY - 2007/3
Y1 - 2007/3
N2 - Clonal chromosome anomalies may be found in the bone marrow (BM) of patients with Shwachman syndrome, who are at risk to develop myelodysplastic syndromes and/or acute myeloid leukemias. In particular, an isochromosome i(7)(q10) is frequent, and is usually monitored by chromosome analyses. We tested an approach by real-time quantitative polymerase chain reaction (RQ-PCR) on a chromosome 7 polymorphism. Five DNA samples of 2 Shwachman syndrome patients with clonal i(7)(q10) in the BM were used. Both were heterozygous for the diallelic indel polymorphism MID1064, which maps in 7q35. The percentage of i(7)(q10)-positive cells was extrapolated from the ratio of the 2 alleles measured by means of an allele-specific RQ-PCR assay. The results were compared with cytogenetic analyses on the same material used for RQ-PCR. In 1 patient, the RQ-PCR results matched well with those of chromosome analyses, whereas in the other one RQ-PCR showed that around 40% of the BM cells were abnormal, while they resulted to be nearly 80% with conventional monitoring assays. As the results obtained by RQ-PCR refer to the DNA of around 128,000 BM cells, our method proved to be feasible and more efficient in the quantitative evaluation of the i(7)(q10)-positive clone than conventional ones.
AB - Clonal chromosome anomalies may be found in the bone marrow (BM) of patients with Shwachman syndrome, who are at risk to develop myelodysplastic syndromes and/or acute myeloid leukemias. In particular, an isochromosome i(7)(q10) is frequent, and is usually monitored by chromosome analyses. We tested an approach by real-time quantitative polymerase chain reaction (RQ-PCR) on a chromosome 7 polymorphism. Five DNA samples of 2 Shwachman syndrome patients with clonal i(7)(q10) in the BM were used. Both were heterozygous for the diallelic indel polymorphism MID1064, which maps in 7q35. The percentage of i(7)(q10)-positive cells was extrapolated from the ratio of the 2 alleles measured by means of an allele-specific RQ-PCR assay. The results were compared with cytogenetic analyses on the same material used for RQ-PCR. In 1 patient, the RQ-PCR results matched well with those of chromosome analyses, whereas in the other one RQ-PCR showed that around 40% of the BM cells were abnormal, while they resulted to be nearly 80% with conventional monitoring assays. As the results obtained by RQ-PCR refer to the DNA of around 128,000 BM cells, our method proved to be feasible and more efficient in the quantitative evaluation of the i(7)(q10)-positive clone than conventional ones.
KW - i(7)(q10)
KW - Real-time quantitative PCR
KW - Shwachman syndrome
UR - http://www.scopus.com/inward/record.url?scp=34247552365&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34247552365&partnerID=8YFLogxK
U2 - 10.1097/MPH.0b013e31803b958e
DO - 10.1097/MPH.0b013e31803b958e
M3 - Article
C2 - 17356395
AN - SCOPUS:34247552365
VL - 29
SP - 163
EP - 165
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
SN - 1077-4114
IS - 3
ER -