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1.
Oliveira JL Kumar R Khan SP Law ME Erickson-Johnson M Oliveira AM Ketterling RP Dogan A 《Pediatric blood & cancer》2011,56(3):467-469
Acute bilineal leukemias are rare and are commonly associated with t(9;22) and MLL abnormalities. Herein, we report a pediatric case of bilineal T/myeloid acute leukemia associated with del (9q)(q13q22) and TLX3/BCL11B fusion due to the cryptic t(5;14)(q35;32). FISH studies confirmed the TLX3/BCL11B fusion in both the myeloid and lymphoid blasts, while the 9q deletion was restricted to the lymphoid component. Optimal therapy for such patients remains controversial and it is not clear if they should be treated with ALL or AML-based chemotherapeutic regimens. Our patient has been in extended remission following ALL-based chemotherapy and a matched unrelated cord blood transplant. Inc. 相似文献
2.
Translocation t(8;14)(q24;q11) with concurrent PTEN alterations and deletions of STIL/TAL1 and CDKN2A/B in a pediatric case of acute T‐lymphoblastic leukemia: A genetic profile associated with adverse prognosis 下载免费PDF全文
Jolanta Skalska‐Sadowska Małgorzata Dawidowska Bronisława Szarzyńska‐Zawadzka Małgorzata Jarmuż‐Szymczak Joanna Czerwińska‐Rybak Ludomiła Machowska Katarzyna Derwich 《Pediatric blood & cancer》2017,64(4)
We report a pediatric case of acute T‐lymphoblastic leukemia (T‐ALL) with NOTCH1wt, FBXW7wt, STIL/TAL1, and PTEN (exons 2, 3, 4, 5) monoallelic deletions, biallelic CDKN2A/B deletion, and a minor t(8;14)(q24;q11)‐positive subclone. Undetectable by a flow cytometric minimal residual disease assay, the t(8;14)(q24;q11) subclone expanded as detected by fluorescence in situ hybridization from 5% at diagnosis to 26% before consolidation and 100% at relapse bearing a monoallelic deletion (exons 2, 3) with a new frameshift mutation of PTEN and the same set of remaining molecular alterations. This case documents an unfavorable prognostic potential of a co‐occurrence of this set of molecular genetic events and addresses risk stratification in T‐ALL. 相似文献
3.
Lones MA Sanger WG Le Beau MM Heerema NA Sposto R Perkins SL Buckley J Kadin ME Kjeldsberg CR Meadows A Siegel S Finlay J Bergeron S Cairo MS;Children's Cancer Group Study CCG-E 《Journal of pediatric hematology/oncology》2004,26(3):169-178
Among pediatric non-Hodgkin lymphomas, the most frequent type is small noncleaved-cell lymphoma (including Burkitt and Burkitt-like). Specific chromosome abnormalities are associated with prognosis in childhood acute lymphoblastic leukemia (ALL); however, chromosome abnormalities have not been evaluated for prognostic value in pediatric Burkitt and Burkitt-like lymphomas. For Children's Cancer Group protocol CCG-E-08 Etiologic Study of Non-Hodgkin Lymphoma in Childhood, 19 patients were enrolled with cytogenetic analysis of Burkitt or Burkitt-like lymphoma and simultaneously enrolled on treatment protocols CCG-503 or CCG-552. Pathology material and karyotypes at initial diagnosis underwent central review. Demographics included an age range of 2 to 14 years (median 8 years) and a male:female ratio of 14:5. All patients had advanced disease (stages III and IV, or ALL). Disease relapsed in five patients (event-free survival 74%, median follow-up 10.4 years). Chromosome abnormalities were identified in 18 patients (95%) including t(8;14)(q24.1;q32) in 12 (63%); t(8;22)(q24.1;q11.2) in 1 (5%); partial duplication of 1q in 7 (37%); and 13q32 abnormalities in 2 (11%). In patients who had relapses, in addition to the t(8;14)(q24. ;q32), two had abnormalities of 13q32 and two had partial duplication of 1q. CMYC translocations were absent in Burkitt-like lymphomas from all three patients. Burkitt and Burkitt-like lymphomas in children have a high frequency of chromosome abnormalities. Burkitt lymphoma abnormalities often involve CMYC translocations, usually a t(8;14)(q24.1;q32). Additional chromosome abnormalities that involved 13q32 and partial duplication of 1q were associated with poor prognosis. Burkitt-like lymphomas were not associated with CMYC translocations. Further studies are warranted in larger cohorts of children and adolescents with Burkitt and Burkitt-like lymphomas. 相似文献
4.
Alexander Popov Guenter Henze Julia Roumiantseva Oleg Budanov Mikhail Belevtsev Tatiana Verzhbitskaya Elena Boyakova Liudmila Movchan Grigory Tsaur Maria Fadeeva Svetlana Lagoyko Liudmila Zharikova Natalia Miakova Dmitry Litvinov Olga Khlebnikova Olga Streneva Elena Stolyarova Natalia Ponomareva Galina Novichkova Larisa Fechina Olga Aleinikova Alexander Karachunskiy 《Pediatric blood & cancer》2023,70(6):e30295
Sequential monitoring of minimal residual disease (MRD) by molecular techniques or multicolor flow cytometry (MFC) has emerged over the past two decades as the primary tool to optimize treatment in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL). The aim of our study was to compare the prognostic power of repeated MFC–MRD measurement with single-point MRD assessment in children with BCP-ALL treated with the reduced-intensity protocol ALL-MB 2008. Data from consecutive MFC–MRD at day 15 and day 36 (end of induction, EOI) were available for 507 children with Philadelphia-negative BCP-ALL. They were stratified into standard risk (SR, n = 265), intermediate risk (ImR, n = 211), and high risk (HR, n = 31) according to the initial clinical characteristics defined in the ALL-MB 2008 protocol. Quantitative (relative to quantitative thresholds) and kinetic (logarithmic reduction) assessments of MFC–MRD at both time points effectively separated patients into three groups with different risk of recurrence. On the other hand, starting with low (for the SR group) and moderate (for the ImR group) induction therapy, a single MFC–MRD measurement at EOI proved sufficient to unequivocally identify patients in whom this therapy is highly effective and distinguish them from those who cannot be successfully treated with such therapy. Therefore, initiating treatment with low or moderate treatment from the start, together with careful consideration of initial clinical risk factors and just one EOI–MFC–MRD measurement is simple, inexpensive, and entirely sufficient for treatment optimization. Furthermore, for a large proportion of patients, this approach allows better adjustment, in particular also reduction of therapy intensity than sequential MRD measurements. 相似文献
5.
Yang SF Chuang WY Chang ST Liu H Chen RL Chuang SS 《Pediatric hematology and oncology》2011,28(8):661-668
Follicular lymphoma (FL) is a common lymphoma entity in adults but is rare in children. As opposed to adult cases, pediatric FL is characterized by a high-grade histology, low-stage disease, a lower frequency of both bcl-2 protein expression and BCL2 gene rearrangement, and a more favorable prognosis. During the authors' previous study of pediatric Burkitt lymphoma, they identified 3 cases of pediatric FL. Here the authors present the first series of pediatric FL from Taiwan. The patients were 2 boys and 1 girl, aged from 7 to 14. The presentation sites were cervical lymph node in 2 and tonsil in 1. All cases showed large neoplastic nodules comprising sheets of centroblasts, corresponding to grade 3b FL. Two of the 3 tumors weakly expressed bcl-2 protein. Fluorescence in situ hybridization for IGH, BCL2, BCL6, CCND1, and MYC loci showed that the only chromosomal translocation was rearranged IGH in 1 case. Two patients were at stage I, and 1 at stage III. All were treated with combination chemotherapy and achieved long-term complete remission. Literature review including the current cases showed that 45% cases of pediatric FL expressed bcl-2 protein and 9% cases carried BCL2 gene rearrangement, suggesting an alternate molecular pathogenesis of pediatric FL as compared to their adult counterparts. 相似文献
6.
C.G. Sherman M. Zielenska A.N. Lorenzana K.A.F. Pulford D.Y. Mason R.E. Hutchison P.S. Thorner 《Pediatric and developmental pathology》2001,4(2):129-137
Anaplastic large cell lymphoma (ALCL) was proposed as a clinicopathologic entity over 14 years ago, but has been somewhat
controversial due to the variability of its defining features and variable occurrence in different age-groups. To evaluate
this entity in a pediatric population, 36 cases of childhood large cell lymphoma were evaluated for abnormalities of the anaplastic
lymphoma kinase (ALK) gene that has been associated with ALCL morphology and immunophenotype. ALK abnormalities were evaluated by assay for the t(2;5)(p23;q35) translocation by RT-PCR and/or expression of NPM-ALK fusion
protein by immunohistochemistry. Results showed 17 patients to have evidence of ALK gene expression. All of these children (mean age, 9.3 years) had tumors that were of T-cell phenotype (with the exception
of a single case of null phenotype) and that expressed CD30. In contrast, 19 children with no evidence of ALK expression were older (mean, 12.7 years), and the majority (12/19) had tumors of B-cell phenotype. CD30 was also diffusely
expressed in 8 of these 19 tumors. The difference in mean age between the two groups was statistically significant (P= 0.015). In three cases tested for both ALK and the t(2;5), ALK protein was detected in the absence of the t(2;5) translocation
but no cases showed the reverse pattern, consistent with ALK fusion to genes other than NPM or activation of the ALK gene by another mechanism. These findings provide further support that ALK-positive ALCL is a distinct pathologic entity
among pediatric large cell lymphomas primarily characterized by expression of T-cell markers, CD30, and EMA, and by a younger
mean age.
Received November 8, 1999; accepted September 11, 2000. 相似文献
7.
Bakshi C Amare Kadam P Abhyankar D Baisane C Banavali S Advani S 《Indian journal of pediatrics》2003,70(9):755-758
The incidence of acute leukemia in children with Down syndrome (DS) is high as compared to general population. Recent findings
have demonstrated that DS children with acute myeloid leukemia (AML) have the highest event free survival rates with high
dose cytosine arabinoside (Ara-C). We present 3 year-old DS female child with AML-M5, whose chromosomal analysis revealed
constitutional t(21;21) alongwith del(5)(q31q33) and a unique translocation t(16;20)(q13;q12). After chemotherapy, child achieved
complete clinical remission. Karyotype analysis of remission marrow showed disappearance of abnormal clone of der(20) t(16;20)(q13;q12),
del(5q) indicating cytogenetic remission too. This case alongwith supportive literature indicate that pediatric DS-AML is
a distinct biologic sub-group differs from that of non-DS-AML with respect to chemosensitivity. 相似文献
8.
Dinesh Rakheja Payal Kapur Gail E. Tomlinson Linda R. Margraf 《Pediatric and developmental pathology》2005,8(6):615-620
Alveolar soft part sarcoma and pediatric renal cell carcinoma share a similar chromosomal abnormality, t(X;17)(p11.2;q25).
Recently, it has been suggested that the inactivation of DNA mismatch repair genes hMLH1 and hMSH2 may play an additional role in the pathogenesis of alveolar soft part sarcoma. Immunohistochemical expression of the proteins
hMLH1 and hMSH2 is indicative of the activation status of the corresponding genes. We performed immunohistochemistry for hMLH1 and hMSH2 in 4 cases of pediatric renal cell carcinomas with Xp11.2 rearrangements. All cases showed nuclear immunoreactivity for both
proteins, although the staining was patchy. Our study demonstrates that inactivation of the DNA mismatch repair genes hMLH1 and hMSH2 does not appear to play a role in the tumorigenesis of pediatric renal cell carcinomas with Xp11.2 rearrangements. 相似文献
9.
Pediatric B‐Cell Lymphoma With Lymphoblastic Morphology,TdT Expression,MYC Rearrangement,and Features Overlapping With Burkitt Lymphoma 下载免费PDF全文
Jessica Meznarich MD Rodney Miles MD PhD Christian N. Paxton PhD Zeinab Afify MD 《Pediatric blood & cancer》2016,63(5):938-940
Burkitt lymphoma (BL) and B‐lymphoblastic lymphoma are subtypes of pediatric non‐Hodgkin lymphoma with different presenting features, treatment, and outcomes. This case report documents a 5‐year‐old female who presented with B‐cell lymphoma with lymphoblastic morphology, terminal deoxynucleotidyl transferase expression, MYC rearrangement, and features overlapping with BL. Genomic microarray analysis identified a gain on the long arm of chromosome 1 without other definitive changes. She was treated according to a BL protocol and remains in remission 16‐months after initial diagnosis. 相似文献
10.
11.
PURPOSE OF REVIEW: This review evaluates whether rituximab has efficacy in high-grade pediatric B-cell lymphoma/leukemia. Current pediatric protocols for CD20+ B-cell lymphoma/leukemia significantly improve survival, but with major morbidity. To assess whether rituximab has efficacy in very high-grade pediatric disease, all published data on rituximab therapy for Burkitt's lymphoma/B acute lymphoblastic leukaemia (B-ALL) and pediatric patients with relapsed/refractory large B-cell lymphoma were reviewed. RECENT FINDINGS: Three trials in adult Burkitt's/B-ALL showed a significant survival advantage when rituximab was added to standard chemotherapy. Minimal pediatric data have been published, but 19 children with mature B-cell lymphoma/B-ALL received rituximab, alone or in combination with chemotherapy, as salvage therapy, after failure of intensive chemotherapy. Fifteen of 19 (79%) responded, 12 (63%) remained alive in continuous complete remission at 5+ to 48+ months of follow-up. Two patients were alive in partial remission. Five patients died, four of progressive disease. Only one patient had no response to rituximab. SUMMARY: Rituximab has demonstrated efficacy in Burkitt's disease in adults. Although positive reporting bias is suspected, it appears that rituximab, even as monotherapy, has efficacy in heavily pretreated pediatric patients with high-grade B-lymphoma/B-ALL. Rituximab use can be justified in a prospective controlled chemotherapy dose-reduction study. 相似文献
12.
Maliheh Khoddami Jeremy Squire Maria Zielenska Paul Thorner 《Pediatric and developmental pathology》1998,1(4):295-299
Melanotic neuroectodermal tumor of infancy is a rare but well-recognized entity in pediatric pathology. However, the relationship
of this tumor to other pediatric small cell tumors with neuroectodermal features (such as neuroblastoma, Ewing sarcoma/peripheral
primitive neuroectodermal tumor, and desmoplastic small round cell tumor) is undetermined. Molecular genetic studies of melanotic
neuroectodermal tumor of infancy have not been reported. We studied three typical cases of melanotic neuroectodermal tumor
of infancy in an attempt to link this tumor to other small cell tumors with well-characterized molecular genetic changes.
Tests performed included: detection of MYCN gene amplification and deletion of 1p (all 3 cases), and presence of the t(11;22)(q24;q12) and the t(11;22)(p13;q12) translocations
(2 of 3 cases). None of these tests yielded positive results. Thus, there is no genetic basis at present to link melanotic
neuroectodermal tumor of infancy to neuroblastoma, Ewing sarcoma/peripheral primitive neuroectodermal tumor, or desmoplastic
small round cell tumor.
Received June 30, 1997; accepted September 19, 1997. 相似文献
13.
Alexander Popov Grigory Tsaur Zhan Permikin Guenter Henze Tatiana Verzhbitskaya Olga Plekhanova Ekaterina Nokhrina Alena Valochnik Petr Sibiryakov Elena Zerkalenkova Yulia Olshanskaya Tatiana Gindina Liudmila Movchan Egor Shorikov Olga Streneva Olga Khlebnikova Olga Makarova Oleg Arakaev Elmira Boichenko Konstantin Kondratchik Natalia Ponomareva Elena Lapotentova Olga Aleinikova Natalia Miakova Galina Novichkova Alexander Karachunskiy Larisa Fechina 《Pediatric blood & cancer》2023,70(4):e30204
The aim of this study was to present the diagnostic and outcome characteristics of infants with germline status of KMT2A gene (KMT2A-g) B-cell precursor acute lymphoblastic leukemia (BCP-ALL) treated consistently according to the MLL-Baby protocol, a moderate-intensity protocol. Of the 139 patients enrolled in the MLL-Baby study, 100 (71.9%) carried different types of rearranged KMT2A (KMT2A-r), while the remaining 39 infants (28.1%) had KMT2A-g. KMT2A-g patients were generally older (77% older than 6 months), less likely to have a very high white blood cell count (greater than 100 × 109/L), less likely to be central nervous system (CNS)-positive, and more likely to be CD10-positive. The 6-year event-free survival and overall survival rates for all 39 patients were 0.74 (standard error [SE] 0.07) and 0.80 (SE 0.07), respectively. Relapse was the most common adverse event (n = 5), with a cumulative incidence of relapse (CIR) of 0.13 (SE 0.06), while the incidence of a second malignancy (n = 1) and death in remission (n = 3) was 0.03 (SE 0.04) and 0.08 (SE 0.04), respectively. None of the initial parameters, including genetics and the presence of recently described fusions of NUTM1 and PAX5 genes, was able to distinguish patients with different outcomes. Only rapidity of response, measured as minimal residual disease (MRD) by flow cytometry, showed a statistically significant impact. Moderate-intensity therapy, as used in the MLL-Baby protocol in infants with KMT2A-g BCP-ALL, yields results comparable to other infant studies. Patients with a slow multicolor flow cytometry (MFC)-MRD response should be subjected to advanced therapies, such as targeted or immunotherapies. 相似文献
14.
FISH identifies a KAT6A/CREBBP fusion caused by a cryptic insertional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype 下载免费PDF全文
Rachel Barrett Barbara Morash David Roback Chantale Pambrun Lesley Marfleet Rhett P. Ketterling Karen Harrison Jason N. Berman 《Pediatric blood & cancer》2017,64(8)
Cytogenetics can inform risk stratification in pediatric acute myeloid leukemia (AML). We describe the first case of a newborn with leukemia cutis found to have AML harboring a cryptic insertional t(8;16)(p11.2;p13.3) with associated KAT6A/CREBBP fusion identified exclusively by fluorescence in situ hybridization (FISH). Expectant management resulted in spontaneous leukemia resolution. The identification of t(8;16)(p11.2;p13.3) may serve as a biomarker for spontaneous remission in congenital AML. FISH for this translocation is warranted in congenital AML with a normal karyotype, and patients with KAT6A/CREBBP fusion should be conservatively managed. While 50% of spontaneously remitting congenital AML with t(8;16)(p11.2;p13.3) may recur, high salvage rates are attained with standard therapy. 相似文献
15.
Michal Kicinski Chloé Arfeuille Nathalie Grardel Marleen Bakkus Aurélie Caye-Eude Geneviève Plat Alina Ferster Anne Uyttebroeck Barbara De Moerloose Pierre Rohrlich Stefan Suciu Yves Bertrand Hélène Cavé 《Pediatric blood & cancer》2023,70(6):e30313
Background
IKZF1 gene deletion is an indicator of poor prognosis in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL). The AEIOP/BFM group proposed that the prognostic strength of IKZF1 deletion could be remarkably improved by taking into account additional genetic deletions and reported that among patients with an IKZF1 deletion those with deletions in CDKN2A/2B, PAX5, or PAR1 in the absence of ERG deletion, grouped as IKZF1plus, had the worst outcome.Procedure
Between 1998 and 2008, 1636 patients under 18 years of age with previously untreated BCP-ALL were registered in the EORTC 58951 trial. Those with multiplex ligation-dependent probe amplification data were included in this analysis. Unadjusted and adjusted Cox model was used to investigate the additional prognostic value of IKZF1plus.Results
Among 1200 patients included in the analysis, 1039 (87%) had no IKZF1 deletion (IKZF1WT), 87 (7%) had an IKZF1 deletion but not IKZF1plus (IKZF1del) and 74 (6%) had IKZF1plus. In the unadjusted analysis, both patients with IKZF1del (hazard ratio [HR] = 2.10, 95% confidence interval [CI]: 1.34–3.31) and IKZF1plus (HR = 3.07, 95% CI: 2.01–4.67) had a shorter event-free survival compared with IKZF1WT. However, although the IKZF1plus status was associated with patients’ characteristics indicating poor prognosis, the difference between IKZF1plus and IKZF1del was not statistically significant (HR = 1.46, 95% CI: 0.83–2.57, p = .19). The results of the adjusted analysis were similar to the unadjusted analysis.Conclusions
In patients with BCP-ALL from the EORTC 58951 trial, the improvement of the prognostic importance of IKZF1 by considering IKZF1plus was not statistically significant. 相似文献16.
Seidel J Heller A Senger G Starke H Chudoba I Kelbova C Tönnies H Neitzel H Haase C Beensen V Zintl F Claussen U Liehr T 《European journal of pediatrics》2003,162(9):582-588
We report a 13-year-old female patient with multiple congenital abnormalities (microcephaly, facial dysmorphism, anteverted dysplastic ears and postaxial hexadactyly), mental retardation, and adipose-gigantism. Ultrasonography revealed no signs of a heart defect or renal abnormalities. She showed no speech development and suffered from a behavioural disorder. CNS abnormalities were excluded by cerebral MRI. Initial cytogenetic studies by Giemsa banding revealed an aberrant karyotype involving three chromosomes, t(2;4;11). By high resolution banding and multicolour fluoresence in-situ hybridisation (M-FISH, MCB), chromosome 1 was also found to be involved in the complex chromosomal aberrations, confirming the karyotype 46,XX,t(2;11;4).ish t(1;4;2;11)(q43;q21.1;p12-p13.1;p14.1). To the best of our knowledge no patient has been previously described with such a complex translocation involving 4 chromosomes. This case demonstrates that conventional chromosome banding techniques such as Giemsa banding are not always sufficient to characterise complex chromosomal abnormalities. Only by the additional utilisation of molecular cytogenetic techniques could the complexity of the present chromosomal rearrangements and the origin of the involved chromosomal material be detected. Further molecular genetic studies will be performed to clarify the chromosomal breakpoints potentially responsible for the observed clinical symptoms. Conclusion: this report demonstrates that multicolour-fluorescence in-situ hybridisation studies should be performed in patients with congenital abnormalities and suspected aberrant karyotypes in addition to conventional Giemsa banding.Abbreviations CGH comparative genomic hybridisation - FISH fluorescence in-situ hybridisation - GTG Giemsa - MCB multicolour banding - WAGR Wilms tumour, aniridia, genitourinary abnormalities and mental retardation - wcp whole chromosomal painting 相似文献
17.
Cytogenetic Findings in Pediatric T-Lymphoblastic Lymphomas: One Institution’s Experience and a Review of the Literature 总被引:1,自引:0,他引:1
Dale A. Ellison David M. Parham Jeffrey R. Sawyer 《Pediatric and developmental pathology》2005,8(5):550-556
Cytogenetic analyses of lymphomas commonly reveal nonrandom chromosomal abnormalities, but there are relatively few reports in childhood lymphoblastic lymphoma (LL). We retrospectively reviewed G-banded karyotypic analyses performed at Arkansas Children’s Hospital between 1990 and 2004. Six children (2 to 20 years old) had LL that presented as mediastinal or cervical masses and had a T-cell immunophenotype and clonal abnormalities. The cytogenetic findings in these 6 patients were as follows: 46,XX,?7,inv(9)(p11q12),der (12)t(7;12)(q11.2;p13),t(16;18)(p13.1;q21),+22 in patient 1; 47,XX,+9,del(9)(q11q22)x2 in patient 2; 72?119, XY,+X,+1,+1, inv(2) (p11q13),?3,+5,+6,+7,+10,?12,?16, ?21,?21,?22,+mar in patient 3; 48,XY,+5,+20,t(7;9) (q32;q34) in patient 4; 47~48,XX,der(10)t(10;14)(q23; q11.2),+12, del(12)(p12)x2, ?14,del(16)(q22q22),+?add (19)(p13.3) in patient 5; and 48~49,XY,+7,+8,t(11;19) (q23;p?13.3),+der(19)t(11;19)[cp20] in patient 6. Eleven chromosome breakpoints in 6 of our patients (7q11, 12p13, 16p13, 18q21, 9q11, 2p11, 2q13, 7q32, and 7q23) have been reported in other patients with acute lymphoblastic leukemia or LL and involved regions containing TEL, ABL, E2A, MLL, and T-cell receptor-α genes. A review of the cytogenetic findings of these and other cases of LL reveals that clonal aberrations are common and most frequently involve T-cell receptor gene regions. The aberrations show some features similar to those of acute lymphoblastic leukemia and are not unique to LL, thus furnishing additional evidence of the equivalence of these two diseases. The cytogenetic features of LL may be helpful in the diagnosis of pediatric lymphomas and undifferentiated neoplasms. 相似文献
18.
Renal Metanephric Adenoma With Previously Unreported Cytogenetic Abnormalities: Case Report and Review of the Literature 总被引:2,自引:0,他引:2
Dinesh Rakheja Fangru Lian Gail E. Tomlinson David H. Ewalt Roger A. Schultz Linda R. Margraf 《Pediatric and developmental pathology》2005,8(2):218-223
We report a case of a renal metanephric adenoma in a 10-year-old boy, in which cytogenetic analysis showed a balanced translocation, t(9;15)(p24;q24) and a balanced paracentric inversion of chromosome 12, inv(12)(q13q15). Immunohistochemically, the tumor showed diffuse reactivity for cytokeratin AE1/AE3, CAM5.2, CD57, and WT1; patchy reactivity for CD56; and focal reactivity for cytokeratin 7, epithelial membrane antigen, and CD10. Tumor cells were entirely nonreactive for α-methyl acyl coenzyme A racemase. Published cytogenetic data for metanephric adenomas are limited, and this is the first report of these cytogenetic abnormalities. The involvement of the chromosome region 9p24 is particularly interesting because of the recent identification of a tumor suppressor gene, KANK (kidney ankyrin repeat-containing protein), at this locus. 相似文献
19.
T Gordon A McManus J Anderson T Min J Swansbury K Pritchard-Jones J Shipley 《Medical and pediatric oncology》2001,36(2):259-267
BACKGROUND: Rhabdomyosarcomas are the most common type of pediatric soft tissue sarcoma. The cytogenetic literature on RMS is biased towards the less common alveolar subtype (ARMS), which is frequently associated with specific translocations and the PAX3/7-FKHR fusion genes. Relatively few karyotypes are reported for the embryonal subtype (ERMS). The aim of this study was to further cytogenetic knowledge of RMS subtypes. PROCEDURE: Representative examples of all karyotypes from UKCCG; member laboratories were reexamined and their histopathologies reviewed through the United Kingdom Children's Cancer Study (Group) (UKCCSG). Molecular evidence for the PAX3/7-FKHR fusion genes was available for five ERMS and seven ARMS cases and compiled with the karyotypes. RESULTS: Clonal chro mosome aberrations were characterized for 25 ERMS and 17 ARMS cases. Thirty-six percent of the ERMS cases involved translocation breakpoints in the 1p11-q11 region. Ten of the seventeen cases of ARMS showed cytogenetic evidence for the t(2;13)(q35;q14), consistent with molecular data available from four of these. Two further ARMS cases revealed a PAX3-FKHR and a variant PAX7-FKHR fusion gene product that were not detected cytogenetically. CONCLUSIONS: Many of the karyotypes from both subtypes were complex. The frequent involvement of the 1p11-1q11 region and gain of chromosomes 2, 8, 12, and 13 in ERMS may be functionally significant. There was no evidence for involvement of the PAX3/7-FKHR genes in ERMS, and cryptic involvement was found in some ARMS. There were no consistent chromosomal rearrangements associated with apparently translocation negative ARMS cases. 相似文献
20.
Donor‐specific HLA antibodies and graft function in kidney‐transplanted children – the Vienna cohort 下载免费PDF全文
Krisztina Rusai Johanna Dworak Alexandra Potemkina Gottfried Fischer Dagmar Csaicsich Klaus Arbeiter Christoph Aufricht Thomas Müller‐Sacherer 《Pediatric transplantation》2016,20(4):507-514
In the pediatric population, little is known on de novo DSA development, its impact on graft function, and association with suboptimal IS. We assessed the prevalence of de novo DSA in the Vienna cohort of 40 renal transplanted children and adolescents and prospectively followed its association with clinical parameters, graft function, and proteinuria for one yr. At the cross‐sectional analysis (median post‐transplant time of five yr), 17% of the patients had developed de novo DSA. All HLA‐Ab were anti‐HLA class II antibodies and persisted in 85% of the cases until the follow‐up screening performed within one yr. Basic clinical and laboratory parameters did not differ between DSA‐negative and DSA‐positive patients at the time of HLA‐Ab screening. Suboptimal IS due to reduced medication or non‐adherence could not be proven in DSA‐positive patients. The changes in eGFR did not differ during the prospective study period, but there was a significantly higher proteinuria in the DSA‐positive patients during the follow‐up. Our data demonstrate an overall prevalence of 17% of de novo DSA in a pediatric renal transplant cohort. During 12 months of prospective follow‐up time, we could demonstrate a significant impact of de novo DSA presence on proteinuria. 相似文献