Unusual Presentation of SET::NUP214-Associated Concomitant Hematological Neoplasm in a Child—Diagnostic and Treatment Struggle
Abstract
:1. Introduction
2. Results
2.1. Case Description
2.1.1. BM Aspirate Examination
2.1.2. BM Trephine Biopsy
2.1.3. Lymph Node Examination
2.2. Cytogenetic and Molecular Findings
2.3. TCR/BCR Repertoire
2.4. Treatment and Outcome
3. Discussion
4. Materials and Methods
4.1. Immunophenotyping
4.2. Cell Sorting
4.3. Cytogenetics and Molecular Genetics
4.4. TCR/BCR Repertoire
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Appendix A
Probe | Result |
---|---|
Kreatech 1 MLL | nuc ish 11q23 (MLL × 2) [200/200] |
Vysis 2 LSI BCL6 | nuc ish 3q27 (BCL6 × 2) [100/100] |
Kreatech 1 ON PDGFRB | nuc ish 5q32 (3′PDGFRB con 5′PDGFRB × 2) [100/100] |
Kreatech 1 ON ETV6 | nuc ish 12p13 (ETV6 × 2) [200] |
Vysis 2 LSI 4q12 | nuc ish 4q12 (FIP1L1, LNX, PDGFRA × 2) [200] |
Kreatech 1 ON FGFR1 (8p12) Break | nuc ish 8p12 (FGFR1 × 2) [200] |
Kreatech 1 ON JAK2 (9p24) Break | nuc ish 9p24 (JAK2 × 2) [100/100] |
Kreatech 1 ON IGH | nuc ish 14q32 (IGH × 2) [200] |
Vysis 2 ATM1/CEP11 | nuc ish 11q22 (ATM1 × 2), cen 11 (CEP11 × 2) [200] |
Kreatech 1 ON BCR/ABL DF t(9;22) | nuc ish 9q34 (ABL1 × 2), 22q11 (BCR × 2) [200/200] |
Cytocell 3 NUP214 Breakapart | nuc ish 9q34 (5’ NUP214 con 3’NUP214 × 1) (3’NUP214 × 1) (5’ NUP214 × 0) [90/100] |
Target Gene | Orientation | DNA/RNA | Sequence 5′ → 3′ | Implementation |
---|---|---|---|---|
SET | sense | DNA | TTAGACTTATCACCACCCAAGC | Direct DNA-based PCR, sequenced using NGS (2526 bp) |
NUP214 | antisense | DNA | AAGACTCTGTCTCTAATAATGTATAC | |
SET | sense | DNA | TGCTCAGTCGCCCTGTTCTTG | Direct DNA-based PCR (175 bp) |
NUP214 | antisense | DNA | TCACTTGAGCCCGAGTTCGAGGC | |
5q-control | sense | DNA | AAAAGAGCCTCAACGACTCC | Direct DNA-based PCR, control (130 bp) |
5q-control | antisense | DNA | CACACCAGGGAGGTGACA | |
SET | sense | RNA | ATGCAGGTGCTGATGAGTTAGG | RT-PCR (189 bp) |
NUP214 | antisense | RNA | TTCCCGATATGGATGATGAAGAAGG |
Gene Name | Sequence, 5′-3′ |
---|---|
SET | TCTTGAGGTCTCTTTTCTCTACTCCATGGTTCTCAATTTATTTGGGGGGAAATACCTTG |
SET::NUP214 | TCTTGAGGTCTCTTTTCTCTACTCCATGGTTCTGTTTTTTTTTTTGTTTTGTTTTGTTTTTT |
NUP214 | GTCTACAAGTGTACGCTACCACGTTTAGCTCTGTTTTTTTTTTTGTTTTGTTTTGTTTTTT |
V | D | J | CDR3 Region Partial Sequence, 5’-3’ | |
---|---|---|---|---|
TRD1 | TRDV2 | TRDD3 | TRDJ1 | TGTGCCTGTGACACAGGGATACTCACACCGATAAACTCATCTTT |
TRD2 | TRDV1 | TRDD3 | TRDJ1 | TGTGCTCTTGGGGAACTTCCCCCATTATCTCCTACCG GGGCTGGGAAAGCCAACACCGATAAACTCATCTTT |
TRB1 | - | TRBD2 | TRBJ2-1 | GGACTAGCAGGGAGGAAACATTTTTGTATCATGGTGTAA CATTGTGGGGACTAGTCGAAATGAGCAGTTCTTCGGGCC |
TRB2 | - | TRBD2 | TRBJ2-2 | GGACTAGCAGGGAGGAAACATTTTTGTATCATGGTGTAACATTGTGGGG ACTAGCGGGAACCGTCACGAACACCGGGGAGCTGTTTTTTGGAGA |
TRB3 | - | TRBD1 | TRBJ1-2 | CTGTTTTTGTACAAAGCTGTAACATTGTGGGGAC AGGGATTTCCGGTGCGGCTACACCTTCGGTTC |
IGH1 | - | IGHD1-26 | IGHJ4 | GCCCCAGAGCTCAGGGCGCCTGGGTGGATTCTGAACAGCCCCGAGTCACG GTGGGTATAGTGGGAGCTACCTACGGTTTTGACTACTGGGGCCA |
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Examination | Acute Myelomonocytic Leukemia | PTCL |
---|---|---|
BM aspirate morphology and cytochemistry | A population of anaplastic blast cells positive for MPO and Sudan Black with a weakly diffuse PAS and negative for nonspecific esterase, 23% of BM NCs | - |
BM aspirate immunophenotyping | 1. A population of early myeloid blasts with CD45dim expression, bright CD7, heterogeneous CD33, CD34, and CD117 positivity, and expression of CD2, CD5, CD99, HLA-DR, and CD15, 2.5% of BM NCs; 2. Monocytic cells at various stages of differentiation, with partial CD7dim expression in the more immature population, 34% of BM NCs | A population of γδ-T cells with low CD7, CD2, CD5, CD3, and TCRγδ expression, CD45dim and CD99high expression, CD4/8-negative and CD48-negative, 3.5% of BM NCs |
BM trephine biopsy | MPO-positive promyelocytic and myeloblastic components located predominantly in the centers of intertrabecular spaces | Lymphoid clusters positive for CD3 |
Lymph node biopsy | MPO-positive component | CD3-positive component |
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Menchits, Y.; Salimova, T.; Komkov, A.; Abramov, D.; Konyukhova, T.; Abasov, R.; Raykina, E.; Itov, A.; Gaskova, M.; Borkovskaia, A.; et al. Unusual Presentation of SET::NUP214-Associated Concomitant Hematological Neoplasm in a Child—Diagnostic and Treatment Struggle. Int. J. Mol. Sci. 2023, 24, 14451. https://doi.org/10.3390/ijms241914451
Menchits Y, Salimova T, Komkov A, Abramov D, Konyukhova T, Abasov R, Raykina E, Itov A, Gaskova M, Borkovskaia A, et al. Unusual Presentation of SET::NUP214-Associated Concomitant Hematological Neoplasm in a Child—Diagnostic and Treatment Struggle. International Journal of Molecular Sciences. 2023; 24(19):14451. https://doi.org/10.3390/ijms241914451
Chicago/Turabian StyleMenchits, Yaroslav, Tatiana Salimova, Alexander Komkov, Dmitry Abramov, Tatiana Konyukhova, Ruslan Abasov, Elena Raykina, Albert Itov, Marina Gaskova, Aleksandra Borkovskaia, and et al. 2023. "Unusual Presentation of SET::NUP214-Associated Concomitant Hematological Neoplasm in a Child—Diagnostic and Treatment Struggle" International Journal of Molecular Sciences 24, no. 19: 14451. https://doi.org/10.3390/ijms241914451