Plasma cell leukaemia (PCL) is a rare and very aggressive plasma cell disorder. Preventing a dismal outcome of PCL requires early diagnosis with appropriate analytical tools. Therefore, the investigation of 33 patients with primary and secondary PCL was done when the quantity of circulating plasma cells (PCs) using flow cytometry (FC) and morphology assessment was evaluated. The phenotypic profile of the PCs was also analysed to determine if there is an association with clinical outcomes and to evaluate the prognostic value of analysed markers. Our results revealed that FC is an excellent method for identifying circulating PCs as a significantly higher number was identified by FC than by morphology (26·7% vs. 13·5%, P = 0·02). None of secondary PCL cases expressed CD19 or CD20. A low level of expression with similar positivity of CD27, CD28, CD81 and CD117 was found in both PCL groups. A decrease of CD44 expression was detected only in secondary PCL. Expression of CD56 was present in more than half of PCL cases as well as cytoplasmic nestin. A decreased level of platelets, Eastern Cooperative Oncology Group score of 2-3 and lack of CD20+ PC were associated with a higher risk of death. FC could be incorporated in PCL diagnostics not only to determine the number of circulating PCs, but also to assess their phenotype profile and this information should be useful in patients' diagnosis and possible prognosis.
- MeSH
- antigeny nádorové analýza MeSH
- buňky kostní dřeně chemie MeSH
- časná detekce nádoru MeSH
- CD antigeny analýza MeSH
- doba přežití bez progrese choroby MeSH
- dospělí MeSH
- falešně negativní reakce MeSH
- imunofenotypizace MeSH
- Kaplanův-Meierův odhad MeSH
- kostní dřeň patologie MeSH
- krevní obraz * metody MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové cirkulující buňky * MeSH
- plazmatické buňky * chemie ultrastruktura MeSH
- plazmocelulární leukemie krev mortalita MeSH
- průtoková cytometrie metody MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- srovnávací studie MeSH
BACKGROUND: While there is enough convincing evidence in childhood acute lymphoblastic leukemia (ALL), the data on the pre-natal origin in childhood acute myeloid leukemia (AML) are less comprehensive. Our study aimed to screen Guthrie cards (neonatal blood spots) of non-infant childhood AML and ALL patients for the presence of their respective leukemic markers. METHODS: We analysed Guthrie cards of 12 ALL patients aged 2-6 years using immunoglobulin (Ig) and T-cell receptor (TCR) gene rearrangements (n = 15) and/or intronic breakpoints of TEL/AML1 fusion gene (n = 3). In AML patients (n = 13, age 1-14 years) PML/RARalpha (n = 4), CBFbeta/MYH11 (n = 3), AML1/ETO (n = 2), MLL/AF6 (n = 1), MLL/AF9 (n = 1) and MLL/AF10 (n = 1) fusion genes and/or internal tandem duplication of FLT3 gene (FLT3/ITD) (n = 2) were used as clonotypic markers. Assay sensitivity determined using serial dilutions of patient DNA into the DNA of a healthy donor allowed us to detect the pre-leukemic clone in Guthrie card providing 1-3 positive cells were present in the neonatal blood spot. RESULTS: In 3 patients with ALL (25%) we reproducibly detected their leukemic markers (Ig/TCR n = 2; TEL/AML1 n = 1) in the Guthrie card. We did not find patient-specific molecular markers in any patient with AML. CONCLUSION: In the largest cohort examined so far we used identical approach for the backtracking of non-infant childhood ALL and AML. Our data suggest that either the prenatal origin of AML is less frequent or the load of pre-leukemic cells is significantly lower at birth in AML compared to ALL cases.
- MeSH
- akutní lymfatická leukemie embryologie epidemiologie genetika krev MeSH
- buněčné klony chemie MeSH
- buňky kostní dřeně chemie MeSH
- dítě MeSH
- DNA nádorová krev MeSH
- duplikace genu MeSH
- fetální krev chemie MeSH
- financování organizované MeSH
- fúzní onkogenní proteiny genetika krev MeSH
- genová přestavba B-lymfocytů MeSH
- genová přestavba T-lymfocytů MeSH
- kohortové studie MeSH
- kojenec MeSH
- lidé MeSH
- myeloidní leukemie embryologie epidemiologie genetika krev MeSH
- nádorové biomarkery krev MeSH
- nádorové proteiny genetika krev MeSH
- novorozenec MeSH
- novorozenecký screening MeSH
- polymerázová řetězová reakce MeSH
- předškolní dítě MeSH
- protein PEBP2A2 genetika krev MeSH
- protoonkogenní protein MLL genetika krev MeSH
- tandemové repetitivní sekvence MeSH
- tyrosinkinasa 3 podobná fms genetika krev MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- MeSH
- buněčné jádro MeSH
- buňky kostní dřeně cytologie chemie MeSH
- buňky stromatu chemie MeSH
- epidermis cytologie chemie MeSH
- finanční podpora výzkumu jako téma MeSH
- hemaglutininy analýza fyziologie metabolismus MeSH
- lidé MeSH
- prasata MeSH
- vazebná místa MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
