A retrospective analysis of the clinical data of seven acute B-lymphoblastic leukemia (B-ALL) patients with TCF3-HLF fusion gene-positive admitted to the First Affiliated Hospital of Soochow University from June 2017 to August 2022 was conducted to summarize their clinical features and prognoses. The seven B-ALL patients comprised four males and three females, with a median age of 18 (11-33) years. Five patients tested positive for CD33 expression, and four patients had a normal karyotype. Two patients had hypercalcemia at the initial diagnosis, and one patient developed hypercalcemia at relapse. Six patients presented with coagulation dysfunction at diagnosis. After induction chemotherapy, five out of seven patients achieved complete remission, of which four subsequently relapsed. Two patients did not achieve remission even after two rounds of induction chemotherapy, with one achieving complete remission after treatment with blinatumomab immunotherapy. Three patients underwent chimeric antigen receptor T cell therapy, whereas three patients subsequently underwent hematopoietic stem cell transplantation. Five patients died, while two patients survived with sustained complete remission. TCF3-HLF-positive B-ALL is rare and has a high relapse rate and poor prognosis.

Objective: To study the value of unmethylated cytosine guanine dinucleotide oligodeoxynucleotide (DSP30) and IL-2 in the conventional cytogenetic (CA) detection of the chromosomal aberrations in chronic lymphocytic leukemia (CLL) . Methods: Bone marrow or peripheral blood cells of CLL patients were cultured with DSP30 plus IL-2 for 72 h, following which R-banding analysis was conducted. Fluorescence in situ hybridization (FISH) was performed in 85 patients. CA results were compared with data obtained by FISH. Results: Among 89 CLL patients, the success rate of chromosome analysis was 94.38% (84/89) . Clonal aberrations were detected in 51 patients (51/84, 60.71%) . Of them, 27 (27/51, 52.94%) were complex karyotype. Among 85 CLL patients tested by FISH, chromosomal abnormalities were detected in 74 (74/85, 87.06%) patients, of which 2 (2/74) patients were complex karyotypes, accounting for 2.70%. Of the 85 CLL patients examined by FISH, 50 had abnormal karyotype analysis, 30 had normal karyotype, 5 failed to have chromosome analysis. Among them, 25 cases showed clonal aberrations by FISH assay but normal by CA, and 4 cases were normal by FISH but displayed aberrations in chromosome analysis, and totally 78 (91.76%) cases with abnormality detected by the combination of the two methods. The frequency of 13q- abnormality detected by FISH was significantly higher than that by CA analysis (69.41%vs 16.67%, P<0.001) , while the frequency of 11q-,+12 and 17p- detected by two methods showed no significant difference (P>0.05) . The detection rate of complex abnormalities in conventional karyotype analysis was higher than that in FISH (50.98%vs 2.70%) . In addition, 11 low-risk and 9 intermediate-risk patients according to FISH results showed complex karyotype by cytogenetics, and were classified into high-risk cytogenetic subgroup. Conclusion DSP30 and IL-2 are effective in improving the detection rate of CA in CLL patients (60.71%) and CA is more effective to detect complex karyotype. However, FISH had a higher overall abnormality detection rate (87.06%) than CA, especially for 13q-. The combination of CA and FISH not only enhanced the detection rate of clonal aberrations to 91.76%, but also provided more precise prognosis stratification for CLL patients, thus to provide more information for clinical implication.

OBJECTIVE: To explore the clinical and laboratory characteristics of 5 patients with myeloid leukemia and t(12;22)(p13;q12). METHODS: Bone marrow cells were cultured for 24 h and analyzed by standard R-banding. Rearrangement of the MN1 gene was detected by fluorescence in situ hybridization (FISH) using dual color break-apart MN1 probes. MN1-ETV6 and ETV6-MN1 fusion genes were detected by reverse transcription polymerase chain reaction (RT-PCR). And the products were subjected to direct sequencing. RESULTS: Among the 5 patients, 2 had AML-M0, 2 had AML-M4, and 1 had CMML at the initial diagnosis. t(12;22)(p13;q12) was the primary abnormality among all patients. Rearrangements of MN1 gene were detected by FISH in all patients. MN1-ETV6 and ETV6-MN1 fusion genes were detected respectively in 4 and 3 patients. CONCLUSION t(12;22)(p13;q12) is a rare but recurrent chromosomal abnormality in myeloid leukemia, and is related to poor prognosis. allo-SCT is valuable for patients with t(12;22)(p13;q12).
Chromosome Banding ; Chromosomes, Human, Pair 12 ; Chromosomes, Human, Pair 22 ; Cytogenetics ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Myeloid ; genetics ; Oncogene Proteins, Fusion ; Translocation, Genetic

Objective? To compare the effects of constant pressure urination and timed urination during indwelling catheterization in elderly patients with coma in the emergency intensive care unit (EICU). Methods? Totally 100 elderly patients with coma admitted in EICU, the First Affiliated Hospital of Huzhou University from January 2015 to June 2017 were selected by convenient sampling. The 49 patients admitted from January 2015 to March 2016 were included into the control group, while the 51 patients admitted between April 2016 and June 2017 were included into the treatment group. Patients in the control group were allowed urination every 3-4 hours, while patients in the treatment group were monitored for continuous bladder pressure using a

OBJECTIVETo report on clinical and laboratory features of myeloid neoplasms with double del(20q).

METHODSCytogenetic examination of bone marrow was performed on 13 cases of myeloid neophasms with double del(20q) after 24 hours of cell culture. R-banding was used to analyze the karyotypes. Interphase fluorescence in situ hybridization (FISH) was performed using dual-color probes for 20q11/20q12.

RESULTSDouble del(20q) was found to be the sole abnormality in 9 cases, double del(20q) and trisomy 9 was found in 1 case, trisomy del(20q) was found in 1 case, and sole del(20q) clone and double del(20q) clone were found to coexist in 2 cases. In 10 cases, interphase FISH showed one green and one red signal in cells with del(20q), which indicated deletion of both 20q11 and 20q12. Immunophenotyping of the leukemia cells showed positiveness for CD13 and/or CD33, CD117 in all 9 cases. Among these, co-expression of CD34 and/or HLA-DR was found in 6 cases, and coexpression of CD3 and CD7 was found in 1 case. Of the 13 cases, there were one AML-M6, nine MDS, one pure amegalokaryocye aplastic thrombocytopenia, one with normal morphology of bone marrow, and one undetermined due to dilution of the bone marrow by blood. Cytopenia were found in all cases. 9 of 13 cases died, and 4 survived with a median survival of 9 months.

CONCLUSIONDouble del(20q) is a rare but recurrent chromosomal abnormality derived from del(20q). It has unique clinical and laboratory features, and the prognosis is poor.

Aged ; Chromosome Banding ; methods ; Chromosome Deletion ; Female ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics ; Neoplasms ; genetics

Objective: To investigate the overexpression frequencies of BRE and EVI1, the correlation between BRE and EVI1 expressions and their possible clinical implications in 11q23/MLL rearrangement acute leukemia. Methods: Cytogenetic examination of bone marrow cells was performed by short-term culture method. R-banding technique was used for karyotype analysis. 47 patients were detected by interphase fluorescence in situ hybridization (FISH) with dual-color break apart MLL probe. The expressions of EVI1 and BRE genes were detected by real time quantitative reverse transcription polymerase chain reaction (RQ-PCR) . The correlation and prognostic significance were statistically tested. Results: 11q23/MLL rearrangements were confirmed by karyotyping and FISH, respectively in 47 patients. According to immunophenotypic analyses of 37 patients, 5 patients showed positive for CD19, CD79a or CD10, 1 for CD7; the others for CD33, CD13, CD14 and CD15, and 16 of them for CD34. Of the 47 patients, 18 patients showed EVI1 overexpression and most of them presented with t (6;11) and M₄/M₅. The EVI1 expression was high in t (6;11) or t (9;11) subgroup comparable with levels observed in normal subgroup (P=0.038, 0.022, respectively) . 15 patients showed high BRE expression, and most of them presented with t (9;11) and M₄/M₅. High BRE expression was found in t (4;11) , t (6;11) , t (9;11) and t (11;19) subgroups, respectively by comparing with normal subgroup. The BRE expression was higher in t (4;11) (P=0.004) or t (9;11) (P=0.012) subgroup than in t (6;11) subgroup. Patients with EVI1 overexpression had a short survival compared with those with low EVI1 expression (P=0.049) and it also did in t (9;11) subgroup (P=0.024) . Patients with t (9;11) and high BRE expression had a long survival compared with those with t (9;11) and low BRE expression (P=0.024) . Conclusion The EVI1 overexpression was significantly frequent in acute leukemia patients with 11q23/MLL rearranged, especially within t (6;11) subgroup and M₄/M₅, which was associated with an inferior outcome. High BRE expression was observed frequently in 11q23/MLL-rearranged acute leukemia especially within t (9;11) subgroup and M₅.

OBJECTIVETo report clinical and laboratory features of 4 cases of myeloid neoplasm with t (5;12) (q33;p13).

METHODSCytogenetic examination of bone marrow cells obtained from patients was performed by 24 h culture method. R banding technical was used for karyotype analysis. PDGFRβ gene rearrangement was detected by FISH using dual color break apart PDGFRβ probe. ETV6-PDGFRβ fusion genes were detected by multiple-reverse transcription polymerase chain reaction (RT-PCR). Direct sequencing analysis was performed on the PCR products in case 1. Immunophenotype analysis was carried out by flow cytometry. Four cases were treated with imatinib (IM) and followed up.

RESULTSThe diagnoses included 3 MPN and 1 AML-M2. The t (5;12) (q33;p13) was a primary abnormality in 3 cases of MPN and a secondary abnormality in 1 case of AML-M2. PDGFRβ gene rearrangement and ETV6-PDGFRβ fusion genes were detected by FISH and multiple-RT-PCR in 4 cases, respectively. The immunophenotypical analysis of leukemia cells showed positive for CD13, CD33 and CD34. Two cases obtained MMR after the treatment of IM, one case complete hematologic and complete cytogenetic response. ETV6-PDGFRβ was negative detected by multiple-RT-PCR after the treatment of IM, but relapsed and died soon in case 4.

CONCLUSIONSThe t (5;12) myeloid neoplasm was a subtype with unique features. The t (5;12) maybe a primary chromosome abnormality in MPN and a secondary in AML. MPN with t (5;12) could benefit from IM, but not for AML. Dual-FISH was a reliable tool for detecting PDGFRβ rearrangement.

Chromosome Banding ; Gene Rearrangement ; Hematologic Neoplasms ; genetics ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Karyotyping ; Myeloproliferative Disorders ; genetics ; Polymerase Chain Reaction ; Proto-Oncogene Proteins c-ets ; genetics ; Receptor, Platelet-Derived Growth Factor beta ; genetics ; Remission Induction ; Repressor Proteins ; genetics ; Translocation, Genetic

OBJECTIVE To explore the clinical and laboratory features of a patient with 8p11 myeloproliferative syndrome (EMS) and CEP110-FGFR1 fusion. METHODS Combined bone marrow cytology, fluorescence in situ hybridization, fusion gene detection was used to analyze the patient. RESULTS Clinically, the patient had many features similar to those with chronic myelomonocytic leukemia, which included hyperleukocytosis, marked eosinophilia, monocytosis, myeloid hyperplasia and hyperplasia. Fluorescence in situ hybridization analysis for FGFR1 gene rearrangement was positive. Further study of the mRNA also confirmed an in-frame fusion between exon 38 of the CEP110 gene and exon 9 of FGFR1 gene. CONCLUSION EMS with CEP110-FGFR1 fusion is a very rare and distinct myeloproliferative neoplasm. FISH and molecular studies may improve its diagnosis.
Cell Cycle Proteins ; genetics ; Chromosomes, Human, Pair 8 ; Female ; Humans ; Middle Aged ; Myeloproliferative Disorders ; genetics ; Oncogene Proteins, Fusion ; genetics ; Receptor, Fibroblast Growth Factor, Type 1 ; genetics

OBJECTIVETo improve the understanding of patients with 8p11 myeloproliferative syndrome (EMS) harboring ins(13;8)(q12;p11p23)/ZNF198 -FGFR1.

METHODSWe reported here a 8p11 EMS case and provided more details on the clinical and molecular features of ins(13;8)(q12;p11p23)/ZNF198-FGFR1，full length ZNF198-FGFR1 was cloned by overlap extension PCR method，and the literatures on this topic were reviewed.

RESULTSClinically, the case with ins(13;8)(q12;p11p23)/ZNF198-FGFR1 had distinct hematological and clinical characteristics: hyperleukocytosis, myeloid hyperplasia，widespread adenopathy and lymphoma; Fluorescence in situ hybridization (FISH) disclosed the positive FGFR1 gene rearrangement; Further molecular studies confirmed a mRNA in-frame fusion between exon 17 of the ZNF198 gene and exon 9 of FGFR1 gene ，the full length ZNF198-FGFR1 was composed of a NH2 terminus of ZNF198 including the ZNF and proline-rich domains, whereas the COOH terminus of FGFR1 included 2 tyrosine kinase domains.

CONCLUSIONEMS with ins(13;8)(q12;p11p23)/ZNF198 -FGFR1 was a very rare， distinct myeloproliferative neoplasm, the fusion gene and chimeric protein with constitutive activation of the FGFR1 tyrosine kinase.

Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 8 ; DNA-Binding Proteins ; Exons ; Humans ; In Situ Hybridization, Fluorescence ; Myeloproliferative Disorders ; Receptor, Fibroblast Growth Factor, Type 1 ; Receptors, Fibroblast Growth Factor ; Transcription Factors ; Translocation, Genetic

Objective:To explore the effect of the methanol extract of Macrothelypteris oligophlebia on chronic non-bacterial prosta-titis ( CNP) in rats to confirm the active fractions. Methods:The powdered rhizomes of M. oligophlebia were soaked in methanol. The methanol extract was suspended in water and then extracted successively with chloroform and ethyl acetate to obtain chloroform fraction, ethyl acetate fraction and water fraction. Carrageenan-induced CNP in rats was established. The rats were randomly divided into the sham-operated control group, model group, positive control group, methanol extract group, ethyl acetate fraction group, chloroform fraction group and water fraction group. The anti-prostatitis effect was evaluated by the prostate index, and the pathological examination of prostate was performed using HE staining. The levels of interleukin-10 (IL-10), tumor necrosis factor alpha (TNF-α), cyclooxyge-nase-2 (COX-2) and prostaglandin E2(PGE2) were analyzed using ELISA kits. Results:The ethyl acetate fraction group and metha-nol extract group with high flavonoid content could significantly decrease prostate index (P<0. 01) and the levels of IL-10, TNF-α, COX-2 and PGE2(P<0. 05 or P<0. 01), and improve the prostate morphology when compared with the model group, especially with the ethyl acetate fraction group. Conclusion:The rhizomes of M. oligophlebia show promising therapeutic effect on CNP, and the ethyl acetate fraction is the active fraction.