OBJECTIVE: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8. METHODS: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness. RESULTS: The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3]. CONCLUSION The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
Female ; Pregnancy ; Humans ; Chromosomes, Human, Pair 8/genetics* ; In Situ Hybridization, Fluorescence ; Gene Rearrangement ; Prenatal Diagnosis ; Centromere

OBJECTIVE: To investigate the clinical and prognostic characteristics of primary acute myeloid leukemia (AML) with 11q23/KMT2A rearrangements. METHODS: Clinical data of 90 patients with primary AML and 11q23/KMT2A rearrangements were analyzed retrospectively. RESULTS: By karyotyping analysis, 80 of the 90 patients had translocations involving 11q23/KMT2A, with t(9;11)(p22;q23), t(6;11)(q27;q23), t(10;11)(p12;q23) and t(11;19)(q23;p13) being the most common ones, while 10 cases were found to have non-translocation abnormalities. The overall complete remission (CR) rate was 75.6%, and patients with t(6;11) had lower CR rate compared with non-t(6;11) patients (47.1% vs. 82.2%, P = 0.005). After a median follow-up of 24.5 months, the patients receiving allo-hematopoietic stem cell transplantation (allo-HSCT) had significantly higher 3-year overall survival (OS) (80.3% vs. 16.6%, P < 0.001) and 3-year event-free survival (EFS) (73.5% vs. 16.3%, P < 0.001) compared with non-transplant patients. Patients with t(6;11) had the lowest 3-year OS (11.8% vs. 56.0%, P < 0.001) and 3-year EFS (5.9% vs. 53.8%, P < 0.001) compared with other type of abnormalities. No significant difference was noted in the survival between patients with t(9;11) and non-t(9;11) regardless whether they had received HSCT. CONCLUSION The clinical characteristics of primary AML with 11q23/KMT2A rearrangements are heterogeneous. Patients did not receive HSCT had poorer survival, particularly with the presence of t(6;11). Allo-HSCT could significantly improve the survival of such patients.
Humans ; Retrospective Studies ; Leukemia, Myeloid, Acute/therapy* ; Translocation, Genetic ; Gene Rearrangement ; Prognosis

Humans ; China ; Chromosome Aberrations ; Consensus ; Gene Rearrangement ; Lymphoma/genetics*

Humans ; Leukemia, Myeloid, Acute/genetics* ; Nuclear Pore Complex Proteins/genetics* ; Gene Rearrangement ; Translocation, Genetic ; Oncogene Proteins, Fusion/genetics*

Objective:b> To investigate the clinicopathological features, immunophenotypes and molecular genetics of fibroma of tendon sheath (FTS). Methods:b> One hundred and thirty-four cases of FTS or tenosynovial fibroma diagnosed in the Department of Pathology, West China Hospital, Sichuan University, Chengdu, China from January 2008 to April 2019 were selected. The clinical and histologic features of these cases were retrospectively reviewed. Immunohistochemistry, fluorescence in situ hybridization (FISH) and reverse transcription-polymerase chain reaction (RT-PCR) were performed on the above cases. Results:b> There were a total of 134 cases of FTS, including 67 males and 67 females. The patients' median age was 38 years (ranged from 2 to 85 years). The median tumor size was 1.8 cm (ranged from 0.1 to 6.8 cm). The most common site was the upper extremity (76/134, 57%). Follow-up data was available in 28 cases and there was no detectable recurrence. Classic FTS (114 cases) were well-defined and hypocellular. A few spindle-shaped fibroblasts were scattered in the dense collagenous sclerotic stroma. Characteristically elongated slit-like spaces or thin-walled vessels were observed. Most of cellular FTSs (20 cases) were well-defined and the area with increased cellularity of the spindle cells coexisted with classic FTS. There were occasional mitotic figures, but no atypical mitotic figures. Immunohistochemistry was performed in 8 cases of classic FTS and most cases were positive for SMA (5/8). Immunohistochemistry was also performed in 13 cases of cellular FTS and showed 100% positive rate for SMA. FISH was conducted on 20 cases of cellular FTS and 32 cases of classical FTS. USP6 gene rearrangement was found in 11/20 of cellular FTS. Among 12 cases of CFTS with nodular fasciitis (NF)-like morphological feature, 7 cases showed USP6 gene rearrangement. The rearrangement proportion of USP6 gene in cellular FTS without NF-like morphological features was 4/8. By contrast, 3% (1/32) of the classic FTS showed USP6 gene rearrangement. RT-PCR was performed in those cases with detected USP6 gene rearrangement and sufficient tissue samples for RT-PCR. The MYH9-USP6 fusion gene was detected in 1 case (1/8) of the cellular FTSs, while no target fusion partner was detected in the classic FTS. Conclusions:b> FTS is a relatively rare benign fibroblastic or myofibroblastic tumor. Our study and recent literature find that some of the classic FTS also show USP6 gene rearrangements, suggesting that classical FTS and cellular FTS are likely to be at different stages of the same disease (spectrum). FISH for USP6 gene rearrangement may be used as an important auxiliary diagnostic tool in distinguishing FTS from other tumors.
Male ; Female ; Humans ; Gene Rearrangement ; In Situ Hybridization, Fluorescence ; Retrospective Studies ; Fibroma/pathology* ; Fasciitis/genetics* ; Ubiquitin Thiolesterase ; Tendons/pathology*

Humans ; Fasciitis/pathology* ; Fibroma/pathology* ; Gene Rearrangement ; Proto-Oncogene Proteins/genetics* ; Ubiquitin Thiolesterase

Humans ; Protein-Tyrosine Kinases/genetics* ; Proto-Oncogene Proteins/genetics* ; Lung Neoplasms/pathology* ; Mutation ; ErbB Receptors/genetics* ; Oncogene Proteins, Fusion/genetics* ; Gene Rearrangement

Humans ; Receptor, trkA/genetics* ; Neoplasms/genetics* ; Biomarkers, Tumor ; Gene Rearrangement ; Oncogene Proteins, Fusion/genetics*

Objective:b> To investigate the clinicopathological characteristics and prognosis of high-grade B-cell lymphoma (HGBL) involving combined rearrangements of MYC, bcl-2 and bcl-6. Methods:b> A total of 1 138 cases of large B cell lymphoma (LBL) that were treated at the Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine from January 2017 to September 2020 were analyzed using fluorescence in situ hybridization (FISH) with probes against MYC, bcl-2 and bcl-6. The clinical and pathological data of the 45 patients with HGBL that had rearrangements of MYC and bcl-2 and/or bcl-6 were collected and retrospectively analyzed. Results:b> Among the 1 138 LBL, 45 (4.0%) cases had combined rearrangements of MYC, bcl-2 and/or bcl-6 that included 6 HGBL cases with MYC, bcl-2 and bcl-6 rearrangements, 14 HGBL cases with MYC and bcl-2 rearrangements, and 25 HGBL cases with MYC and bcl-6 rearrangements. Of these 45 patients, 29 patients were male, and 16 patients were female, aged 29 to 83 years. HGBL with MYC, bcl-2 and bcl-6 rearrangements and HGBL with MYC and bcl-2 rearrangement were reclassified as the germinal center B-cell (GCB) subtype using the Hans algorithm. HGBL with MYC and bcl-6 rearrangement were reclassified as the GCB subtype (68.0%) and the non-GCB subtype (32.0%). The vast majority of HGBL cases had a high Ki-67 proliferation index. Most HGBL patients had advanced stage disease with a high IPI score and an increased LDH level. Also, some patients had clinical features including elevated plasma β2-microglobulin levels, B symptoms, and bone marrow involvement. The IPI scores and LDH levels were significantly different between the HGBL cases with MYC, bcl-2 and bcl-6 rearrangements and the HGBL cases with MYC and bcl-6 rearrangements (P<0.05). Compared with the HGBL cases with MYC, bcl-2 and bcl-6 rearrangements, the HGBL cases with MYC and bcl-2 or bcl-6 rearrangements had a lower incidence of bone marrow involvement (P<0.05). There were no significant differences in the prognosis among HGBL cases with MYC, bcl-2 and bcl-6 rearrangements, the cases with MYC and bcl-2 rearrangements, and the cases with MYC and bcl-6 rearrangements (P>0.05). Conclusions:b> HGBL with MYC, bcl-2 and/or bcl-6 rearrangements are rare types of B-cell lymphoma with high degree of malignancy and have a short overall survival. To reduce misdiagnosis and improve diagnostic accuracy, it is necessary to assess the patients' clinical features and conduct histopathological, immunohistochemical and FISH analyses.
Adult ; Aged ; Aged, 80 and over ; China ; Female ; Gene Rearrangement ; Humans ; In Situ Hybridization, Fluorescence ; Lymphoma, Large B-Cell, Diffuse/genetics* ; Male ; Middle Aged ; Prognosis ; Proto-Oncogene Proteins c-bcl-2/genetics* ; Proto-Oncogene Proteins c-bcl-6/genetics* ; Proto-Oncogene Proteins c-myc/genetics* ; Retrospective Studies

Eosinophilia/genetics* ; Gene Rearrangement ; Humans ; Myeloproliferative Disorders/genetics* ; Neoplasms ; Oncogene Proteins, Fusion/genetics* ; Receptor, Platelet-Derived Growth Factor alpha/genetics*