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Article ; Online: Molecular Pathogenesis of Diffuse Large B-Cell Lymphoma.

Dobashi, Akito

Journal of clinical and experimental hematopathology : JCEH

2016 Volume 56, Issue 2, Page(s) 71–78

Abstract: Diffuse large B-cell lymphoma (DLBCL) is divided into germinal center B-like (GCB) DLBCL and activated B-like (ABC) DLBCL. In recent years, whole genome sequencing (WGS), whole exome sequencing (WES), and transcriptome sequencing (RNA-seq) have been ... ...

Abstract	Diffuse large B-cell lymphoma (DLBCL) is divided into germinal center B-like (GCB) DLBCL and activated B-like (ABC) DLBCL. In recent years, whole genome sequencing (WGS), whole exome sequencing (WES), and transcriptome sequencing (RNA-seq) have been performed for samples from many patients with DLBCL. Here, I present a review of the results of next generation sequencing data for DLBCL. Somatic mutations show a low identity between studies with only 10-20% gene overlap. DLBCL is a disease that results from various molecular pathogeneses. Mutations in genes involved in chromatin remodeling were found in the GCB subtype. Mutations in members of B-cell receptor (BCR) signaling and the NF-κB pathway (MYD88) were found in the ABC subtype. The MYD88 L265P mutation was observed in 29% of ABC DLBCL cases. EZH2 mutations were observed in 21.7% of GCB DLBCL cases. WGS indicated that inactivating mutations in GNA13 (Gα protein) were prevalent in GCB DLBCL cases. In addition, S1PR2 is a target of aberrant somatic hypermutation. In recent years, samples from patients with relapsed and refractory DLBCL were analyzed. The activation of the NF-κB pathway is associated with treatment resistance in DLBCL. Further clarification of the molecular pathogenesis of DLBCL is expected to lead to the development of individualized treatment for the disease.
MeSH term(s)	Amino Acid Substitution ; Animals ; Enhancer of Zeste Homolog 2 Protein/genetics ; Enhancer of Zeste Homolog 2 Protein/metabolism ; Exome ; GTP-Binding Protein alpha Subunits, Gq-G11/genetics ; GTP-Binding Protein alpha Subunits, Gq-G11/metabolism ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Humans ; Lymphoma, Large B-Cell, Diffuse/classification ; Lymphoma, Large B-Cell, Diffuse/genetics ; Lymphoma, Large B-Cell, Diffuse/metabolism ; Mutation, Missense ; Myeloid Differentiation Factor 88/genetics ; Myeloid Differentiation Factor 88/metabolism ; Neoplasm Proteins/genetics ; Neoplasm Proteins/metabolism ; Receptors, Antigen, B-Cell/metabolism ; Receptors, Lysosphingolipid ; Signal Transduction
Chemical Substances	MYD88 protein, human ; Myeloid Differentiation Factor 88 ; Neoplasm Proteins ; Receptors, Antigen, B-Cell ; Receptors, Lysosphingolipid ; S1PR2 protein, human ; EZH2 protein, human (EC 2.1.1.43) ; Enhancer of Zeste Homolog 2 Protein (EC 2.1.1.43) ; GTP-Binding Protein alpha Subunits, Gq-G11 (EC 3.6.5.1)
Language	English
Publishing date	2016-12-13
Publishing country	Japan
Document type	Journal Article ; Review
ZDB-ID	2395568-5
ISSN	1880-9952 ; 1346-4280
ISSN (online)	1880-9952
ISSN	1346-4280
DOI	10.3960/jslrt.56.71
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Article ; Online: Neuroendocrine and squamous cell phenotypes of NUT carcinoma are potential diagnostic pitfalls that discriminating it from mimickers, such as small cell and squamous cell carcinoma.

Ninomiya, Hironori / Sato, Yukiko / Inamura, Kentaro / Dobashi, Akito / Takeuchi, Kengo / Mitani, Hiroki / Mun, Mingyon / Nishio, Makoto / Ishikawa, Yuichi

Diagnostic pathology

2024 Volume 19, Issue 1, Page(s) 27

Abstract: Introduction: NUT carcinoma is a rare cancer associated with a poor prognosis. Because of its rarity, its diagnosis is challenging and is usually made by excluding other diagnoses. Immunohistochemical analysis is a reliable technique that contributes to ...

Abstract	Introduction: NUT carcinoma is a rare cancer associated with a poor prognosis. Because of its rarity, its diagnosis is challenging and is usually made by excluding other diagnoses. Immunohistochemical analysis is a reliable technique that contributes to a correct diagnosis, but overestimating the expression of neuroendocrine (NE) markers may result in an incorrect diagnosis. In this study, we established the immunohistochemical phenotypes of NUT carcinoma compared with tumors that mimic its phenotype to identify potential diagnostic pitfalls. Methods: Eight cases of NUT carcinoma were examined along with eight basaloid squamous cell carcinomas and thirteen cases of small cell carcinoma using an immunohistochemical panel consisting of various antibodies. Results: Of the eight NUT carcinomas, three patients had a smoking history. All the cases examined for INSM1 were positive (6/6, 100%), although the staining was somewhat weak. Among the NE markers, synaptophysin was variably positive in two NUT carcinomas (2/6, 33%); however, all cases were negative for ASCL1, chromogranin A, and CD56. Moreover, the squamous cell markers, p40 and CK5/6, were weakly expressed in 4/6 (67%) and 3/6 (50%) of the NUT carcinomas, respectively. Conclusions: For tumors with an ambiguous morphology, applying the neuroendocrine phenotype of NUT carcinoma may be misleading; particularly, when distinguishing it from small-cell carcinoma. Similarly, null or weak expression of squamous cell markers may be observed in NUT carcinoma, but this differs from squamous cell carcinoma, which consistently demonstrates strong positivity for squamous cell markers.
MeSH term(s)	Humans ; Biomarkers, Tumor/analysis ; Synaptophysin/analysis ; Carcinoma, Squamous Cell/pathology ; Small Cell Lung Carcinoma ; Lung Neoplasms/pathology ; Epithelial Cells/pathology ; Phenotype ; Carcinoma, Neuroendocrine/pathology ; Repressor Proteins/analysis
Chemical Substances	Biomarkers, Tumor ; Synaptophysin ; INSM1 protein, human (147955-03-1) ; Repressor Proteins
Language	English
Publishing date	2024-02-07
Publishing country	England
Document type	Journal Article
ZDB-ID	2210518-9
ISSN	1746-1596 ; 1746-1596
ISSN (online)	1746-1596
ISSN	1746-1596
DOI	10.1186/s13000-024-01448-7
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Article ; Online: Novel THBS1::IGF1R fusion in myopericytic tumour.

Kato, Kenichiro / Yamashita, Kyoko / Dobashi, Akito / Togashi, Yuki / Baba, Satoko / Ae, Keisuke / Matsumoto, Seiichi / Takeuchi, Kengo

Histopathology

2024

Language	English
Publishing date	2024-04-04
Publishing country	England
Document type	Letter
ZDB-ID	131914-0
ISSN	1365-2559 ; 0309-0167
ISSN (online)	1365-2559
ISSN	0309-0167
DOI	10.1111/his.15186
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Article ; Online: Lymphomatoid gastropathy/NK-cell enteropathy involving the stomach and intestine.

Nakajima, Makoto / Shimoda, Masayuki / Takeuchi, Kengo / Dobashi, Akito / Kanai, Takanori / Kanai, Yae / Iwao, Yasushi

Journal of clinical and experimental hematopathology : JCEH

2022 Volume 62, Issue 2, Page(s) 114–118

Abstract: Lymphomatoid gastropathy (LyGa)/natural killer (NK)-cell enteropathy (NKCE) is recognized as a benign NK-cell lymphoproliferative disease. Due to its histological similarity to NK/T cell lymphoma, it is easy to misdiagnose, leading to unnecessary ... ...

Abstract	Lymphomatoid gastropathy (LyGa)/natural killer (NK)-cell enteropathy (NKCE) is recognized as a benign NK-cell lymphoproliferative disease. Due to its histological similarity to NK/T cell lymphoma, it is easy to misdiagnose, leading to unnecessary chemotherapy and poor quality of life. This disease is typically observed in the small and large intestines in North America, whereas almost all cases in Japan occur locally in the stomach. Only 11 LyGa/NKCE cases involving both gastric and intestinal lesions have been reported, and there are few reports providing endoscopic images throughout the gastrointestinal tract. We report a case of LyGa/NKCE involving both the stomach and small and large intestines with detailed upper gastrointestinal endoscopy, colonoscopy, capsule endoscopy and pathology images. Its pathogenesis currently remains elusive, but most patients with LyGa/NKCE in Japan have Helicobacter pylori (H. pylori) infection. Our patient was also positive for H. pylori infection at disease onset, but after receiving eradication therapy, ulcerative lesions in both stomach and intestine regressed and no recurrence was observed. This case suggests a link between the pathogenesis of LyGa/NKCE and H. pylori infection.
MeSH term(s)	Helicobacter Infections/complications ; Humans ; Intestines/pathology ; Lymphoma ; Lymphoproliferative Disorders/pathology ; Quality of Life ; Stomach Diseases/etiology ; Stomach Diseases/pathology ; Stomach Neoplasms/pathology
Language	English
Publishing date	2022-04-27
Publishing country	Japan
Document type	Case Reports ; Journal Article
ZDB-ID	2395568-5
ISSN	1880-9952 ; 1880-9952
ISSN (online)	1880-9952
ISSN	1880-9952
DOI	10.3960/jslrt.21032
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Article ; Online: Clinicopathologic and genetic characterization of angiofibroma of soft tissue: a study of 12 cases including two cases with AHRR::NCOA3 gene fusion.

Yamashita, Kyoko / Baba, Satoko / Togashi, Yuki / Dobashi, Akito / Ae, Keisuke / Matsumoto, Seiichi / Tanaka, Miwa / Nakamura, Takuro / Takeuchi, Kengo

Histopathology

2023 Volume 83, Issue 1, Page(s) 57–66

Abstract: Aims: Angiofibroma of soft tissue (AFST) is a benign tumour characterised by prominent arborizing blood vessels throughout the lesion. Approximately two-thirds of AFST cases were reported to have AHRR::NCOA2 fusion, and only two cases have been reported ...

Abstract	Aims: Angiofibroma of soft tissue (AFST) is a benign tumour characterised by prominent arborizing blood vessels throughout the lesion. Approximately two-thirds of AFST cases were reported to have AHRR::NCOA2 fusion, and only two cases have been reported to have other gene fusions: GTF2I::NCOA2 or GAB1::ABL1. Although AFST is included in fibroblastic and myofibroblastic tumours in the World Health Organization's 2020 classification, histiocytic markers, especially CD163, have been reported to be positive in almost all examined cases, and it still remains the possibility of a fibrohistiocytic nature of the tumour. Therefore, we aimed to clarify the genetic and pathological spectrum of AFST and identify whether histiocytic marker-positive cells were true neoplastic cells. Methods and results: We evaluated 12 AFST cases, which included 10 cases with AHRR::NCOA2 and two with AHRR::NCOA3 fusions. Pathologically, nuclear palisading, which has not been reported in AFST, was detected in two cases. Furthermore, one tumour resected by additional wide resection revealed severe infiltrative growth. Immunohistochemical analysis indicated varying levels of desmin-positive cells in nine cases, whereas CD163- and CD68-positive cells were diffusely distributed in all 12 cases. We also performed double immunofluorescence staining and immunofluorescence in situ hybridisation in four resected cases with >10% desmin-positive tumour cells. The results suggested that the CD163-positive cells differed from desmin-positive cells with AHRR::NCOA2 fusion in all four cases. Conclusion: Our findings suggested that AHRR::NCOA3 could be the second most frequent fusion gene, and histiocytic marker-positive cells are not genuine neoplastic cells in AFST.
MeSH term(s)	Humans ; Angiofibroma/genetics ; Angiofibroma/pathology ; Desmin ; Soft Tissue Neoplasms/genetics ; Soft Tissue Neoplasms/pathology ; In Situ Hybridization ; Gene Fusion ; Head and Neck Neoplasms ; Nuclear Receptor Coactivator 3/genetics ; Repressor Proteins/genetics ; Basic Helix-Loop-Helix Transcription Factors
Chemical Substances	Desmin ; NCOA3 protein, human (EC 2.3.1.48) ; Nuclear Receptor Coactivator 3 (EC 2.3.1.48) ; AHRR protein, human ; Repressor Proteins ; Basic Helix-Loop-Helix Transcription Factors
Language	English
Publishing date	2023-03-20
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	131914-0
ISSN	1365-2559 ; 0309-0167
ISSN (online)	1365-2559
ISSN	0309-0167
DOI	10.1111/his.14899
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Article ; Online: ALK rearrangement-associated renal cell carcinoma morphologically mimicking mucinous tubular and spindle cell carcinoma: a case report.

Kai, Keita / Tobu, Shohei / Kido, Shinichi / Mikami, Shuji / Takeuchi, Kengo / Dobashi, Akito / Togashi, Yuki / Noguchi, Mitsuru / Aishima, Shinichi

Diagnostic pathology

2022 Volume 17, Issue 1, Page(s) 52

Abstract: Background: Anaplastic lymphoma kinase rearrangement-associated renal cell carcinoma (ALK-RCC) is an extremely rare tumor and ALK-RCC that mimics mucinous tubular and spindle cell carcinoma (MTSCC) has been very reported only in one instance.: Case ... ...

Abstract	Background: Anaplastic lymphoma kinase rearrangement-associated renal cell carcinoma (ALK-RCC) is an extremely rare tumor and ALK-RCC that mimics mucinous tubular and spindle cell carcinoma (MTSCC) has been very reported only in one instance. Case presentation: A 42-year-old Japanese woman was admitted to our hospital for the treatment of a left renal tumor measuring 5 cm in maximum dimension. She underwent a laparoscopic left nephrectomy. Histologically, the tumor formed tubular or focally papillary structures with a small amount of spindle-shaped tumor cells against the background of prominent extracellular mucin. Although the tumor cells were negative for immunohistochemistry (IHC) of alpha-methylacyl-CoA racemase (AMACR) and lymph node metastasis was presented (these are atypical findings for MTSCC), we initially diagnosed the tumor as MTSCC based on its morphological characteristics with mucin deposition. However, an additional IHC analysis revealed that the tumor cells were diffusely positive for ALK-IHC. In addition, TPM3 exon 8 - ALK exon 20 fusion gene was detected by RNA sequencing. The tumor was thus correctly diagnosed as ALK rearrangement-associated renal cell carcinoma (ALK-RCC). Conclusions: Since the use of molecular targeted therapy with an ALK inhibitor for ALK-RCC is promising, the correct pathological diagnosis of ALK-RCC is quite important. We strongly recommend that ALK-IHC be routinely performed for renal tumors with negative AMACR staining that mimic MTSCC.
MeSH term(s)	Adult ; Carcinoma/pathology ; Carcinoma, Renal Cell/diagnosis ; Carcinoma, Renal Cell/genetics ; Carcinoma, Renal Cell/pathology ; Female ; Humans ; Kidney Neoplasms/diagnosis ; Kidney Neoplasms/genetics ; Kidney Neoplasms/pathology ; Mucins/genetics ; Nephrectomy
Chemical Substances	Mucins
Language	English
Publishing date	2022-06-19
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2210518-9
ISSN	1746-1596 ; 1746-1596
ISSN (online)	1746-1596
ISSN	1746-1596
DOI	10.1186/s13000-022-01238-z
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Article ; Online: Anaplastic large cell lymphoma: pathology, genetics, and clinical aspects.

Tsuyama, Naoko / Sakamoto, Kana / Sakata, Seiji / Dobashi, Akito / Takeuchi, Kengo

Journal of clinical and experimental hematopathology : JCEH

2018 Volume 57, Issue 3, Page(s) 120–142

Abstract: Anaplastic large cell lymphoma (ALCL) was first described in 1985 as a large-cell neoplasm with anaplastic morphology immunostained by the Ki-1 antibody, which recognizes CD30. In 1994, the nucleophosmin (NPM)-anaplastic lymphoma kinase (ALK) fusion ... ...

Abstract	Anaplastic large cell lymphoma (ALCL) was first described in 1985 as a large-cell neoplasm with anaplastic morphology immunostained by the Ki-1 antibody, which recognizes CD30. In 1994, the nucleophosmin (NPM)-anaplastic lymphoma kinase (ALK) fusion receptor tyrosine kinase was identified in a subset of patients, leading to subdivision of this disease into ALK-positive and -negative ALCL in the present World Health Organization classification. Due to variations in morphology and immunophenotype, which may sometimes be atypical for lymphoma, many differential diagnoses should be considered, including solid cancers, lymphomas, and reactive processes. CD30 and ALK are key molecules involved in the pathogenesis, diagnosis, and treatment of ALCL. In addition, signal transducer and activator of transcription 3 (STAT3)-mediated mechanisms are relevant in both types of ALCL, and fusion/mutated receptor tyrosine kinases other than ALK have been reported in ALK-negative ALCL. ALK-positive ALCL has a better prognosis than ALK-negative ALCL or other peripheral T-cell lymphomas. Patients with ALK-positive ALCL are usually treated with anthracycline-based regimens, such as combination cyclophosphamide, doxorubicin, vincristine, and prednisolone (CHOP) or CHOEP (CHOP plus etoposide), which provide a favorable prognosis, except in patients with multiple International Prognostic Index factors. For targeted therapies, an anti-CD30 monoclonal antibody linked to a synthetic antimitotic agent (brentuximab vedotin) and ALK inhibitors (crizotinib, alectinib, and ceritinib) are being used in clinical settings.
MeSH term(s)	Anaplastic Lymphoma Kinase ; Animals ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Cyclophosphamide/therapeutic use ; Doxorubicin/therapeutic use ; Humans ; Ki-1 Antigen/analysis ; Ki-1 Antigen/genetics ; Lymphoma, Large-Cell, Anaplastic/genetics ; Lymphoma, Large-Cell, Anaplastic/pathology ; Lymphoma, Large-Cell, Anaplastic/therapy ; Mutation ; Prednisolone/therapeutic use ; Protein Kinase Inhibitors/therapeutic use ; Receptor Protein-Tyrosine Kinases/analysis ; Receptor Protein-Tyrosine Kinases/genetics ; Vincristine/therapeutic use
Chemical Substances	Ki-1 Antigen ; Protein Kinase Inhibitors ; Vincristine (5J49Q6B70F) ; Doxorubicin (80168379AG) ; Cyclophosphamide (8N3DW7272P) ; Prednisolone (9PHQ9Y1OLM) ; ALK protein, human (EC 2.7.10.1) ; Anaplastic Lymphoma Kinase (EC 2.7.10.1) ; Receptor Protein-Tyrosine Kinases (EC 2.7.10.1)
Language	English
Publishing date	2018-01-29
Publishing country	Japan
Document type	Journal Article ; Review
ZDB-ID	2395568-5
ISSN	1880-9952 ; 1880-9952
ISSN (online)	1880-9952
ISSN	1880-9952
DOI	10.3960/jslrt.17023
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Article ; Online: Distinct Clinicopathologic Features and Possible Pathogenesis of Localized ALK-positive Histiocytosis of the Breast.

Osako, Tomo / Kurisaki-Arakawa, Aiko / Dobashi, Akito / Togashi, Yuki / Baba, Satoko / Shiozawa, Satoshi / Ishigame, Hiroki / Ishige, Hiroyuki / Ohno, Shinji / Ishikawa, Yuichi / Takeuchi, Kengo

The American journal of surgical pathology

2021 Volume 46, Issue 3, Page(s) 344–352

Abstract: Anaplastic lymphoma kinase (ALK)-positive histiocytosis is a rare emerging entity characterized by systemic or localized proliferation of histiocytes harboring ALK rearrangements. Breasts are reportedly affected by ALK-positive histiocytosis. Here, we ... ...

Abstract	Anaplastic lymphoma kinase (ALK)-positive histiocytosis is a rare emerging entity characterized by systemic or localized proliferation of histiocytes harboring ALK rearrangements. Breasts are reportedly affected by ALK-positive histiocytosis. Here, we evaluated 2 localized cases of breast ALK-positive histiocytosis through a comprehensive clinicopathologic, molecular, and genomic analysis to further delineate this entity and better understand its pathogenesis. The cases involved 2 undiagnosed ALK-positive spindle-cell breast lesions. Both cases were Asian women aged 30s to 40s who underwent excisions for asymptomatic breast masses. Macroscopically, both lesions were well-circumscribed, solid masses. Microscopically, both lesions were predominantly composed of fascicles with uniform, bland spindle cells, admixed with epithelioid histiocyte-like cells and lymphoid aggregates. Immunohistochemically, the spindle and epithelioid cells coexpressed ALK and histiocytic markers (eg, CD68, CD163). Genetically, both lesions harbored KIF5B-ALK, confirmed by fluorescence in situ hybridization and polymerase chain reaction-direct sequencing analyses. Combining these results, both cases were successfully diagnosed as ALK-positive histiocytosis. Furthermore, no common or previously annotated somatic alterations were identified by whole-exome sequencing. One case harbored clonal immunoglobulin gene rearrangements according to the polymerase chain reaction-based BIOMED-2 protocol. Therefore, ALK-positive histiocytosis can be accurately diagnosed through a combination of morphologic, immunohistochemical, and molecular analyses. In this entity, breast cases may have distinct clinicopathologic features: Asian women aged 30s to 40s, asymptomatic masses, and predominant spindled morphology. For pathogenesis, ALK rearrangements could be the driver alteration, and a subset of ALK-positive histiocytosis may harbor a lymphoid lineage. These findings can be utilized to improve the diagnosis of ALK-positive histiocytosis and better understand its pathogenesis.
MeSH term(s)	Adult ; Anaplastic Lymphoma Kinase/genetics ; Anaplastic Lymphoma Kinase/metabolism ; Biomarkers/metabolism ; Breast Diseases/diagnosis ; Breast Diseases/genetics ; Breast Diseases/metabolism ; Breast Diseases/pathology ; Female ; Gene Rearrangement ; Genetic Markers ; Histiocytosis/diagnosis ; Histiocytosis/genetics ; Histiocytosis/metabolism ; Histiocytosis/pathology ; Humans ; Oncogene Proteins, Fusion/genetics ; Oncogene Proteins, Fusion/metabolism
Chemical Substances	Biomarkers ; Genetic Markers ; KIF5B-ALK fusion protein, human ; Oncogene Proteins, Fusion ; ALK protein, human (EC 2.7.10.1) ; Anaplastic Lymphoma Kinase (EC 2.7.10.1)
Language	English
Publishing date	2021-09-03
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	752964-8
ISSN	1532-0979 ; 0147-5185
ISSN (online)	1532-0979
ISSN	0147-5185
DOI	10.1097/PAS.0000000000001794
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Article ; Online: MYB and MYBL1 in adenoid cystic carcinoma: diversity in the mode of genomic rearrangement and transcripts.

Togashi, Yuki / Dobashi, Akito / Sakata, Seiji / Sato, Yukiko / Baba, Satoko / Seto, Akira / Mitani, Hiroki / Kawabata, Kazuyoshi / Takeuchi, Kengo

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

2018 Volume 31, Issue 6, Page(s) 934–946

Abstract: MYB-NFIB and MYBL1-NFIB have been reported in ~60% of adenoid cystic carcinoma cases, but driver alterations in the remaining ~40% of adenoid cystic carcinoma remain unclear. We examined 100 adenoid cystic carcinoma cases for MYB and MYBL1 locus ... ...

Abstract	MYB-NFIB and MYBL1-NFIB have been reported in ~60% of adenoid cystic carcinoma cases, but driver alterations in the remaining ~40% of adenoid cystic carcinoma remain unclear. We examined 100 adenoid cystic carcinoma cases for MYB and MYBL1 locus rearrangements by fluorescence in situ hybridization (FISH) with originally designed probe sets using formalin-fixed paraffin-embedded materials. Approximately one-third of samples were also analyzed by fusion transcript-specific RT-PCR and capture RNA sequencing. In the 27 cases with frozen materials, MYB-NFIB and MYBL1-NFIB fusion transcripts were detected in 9 (33%) and 6 cases (22%) by RT-PCR, respectively. Meanwhile, high expression of MYB (18 cases, 67%) or MYBL1 (9 cases, 33%) was detected in all 27 cases in a mutually exclusive manner, regardless of its form (full-length, truncation, or fusion transcript). Interestingly, genomic rearrangements around the corresponding highly-expressed gene were observed in all 27 cases by FISH, suggesting a causative relationship between genomic rearrangements and gene expression. Among the 100 cases, including additional 73 cases, 97 harbored genomic rearrangements in the MYB (73 cases) or MYBL1 locus (24 cases) including 10 cases with atypical FISH patterns undetectable through ordinary split FISH approaches: breakpoints far distant from MYB (5 cases) and a small NFIB locus insertion into the MYB (3 cases) or MYBL1 locus (2 cases). In clinicopathological analyses, histological grade, primary tumor size, and lymph node metastasis were identified as prognostic factors, whereas MYB/MYBL1 rearrangements were not, but were associated with histological grade. In the present study, MYB or MYBL1 locus rearrangement was detected in nearly all adenoid cystic carcinoma cases, and therefore it would be a good diagnostic marker for adenoid cystic carcinoma. However, fusion transcript-specific RT-PCR for MYB-NFIB and MYBL1-NFIB and ordinary split FISH assays for MYB and MYBL1 were less sensitive, and thus detection methods should be judiciously designed because of the diversity of rearrangement modes in adenoid cystic carcinoma.
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Carcinoma, Adenoid Cystic/genetics ; Carcinoma, Adenoid Cystic/pathology ; Female ; Gene Rearrangement ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Neoplasm Grading ; Oncogene Proteins, Fusion ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins c-myb/genetics ; Salivary Gland Neoplasms/genetics ; Salivary Gland Neoplasms/pathology ; Trans-Activators/genetics ; Young Adult
Chemical Substances	MYB protein, human ; MYBL1 protein, human ; Oncogene Proteins, Fusion ; Proto-Oncogene Proteins ; Proto-Oncogene Proteins c-myb ; Trans-Activators
Language	English
Publishing date	2018-02-06
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	645073-8
ISSN	1530-0285 ; 0893-3952
ISSN (online)	1530-0285
ISSN	0893-3952
DOI	10.1038/s41379-018-0008-8
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Article ; Online: Epstein-Barr virus-negative extranodal "true" natural killer-cell lymphoma harbouring a KDM6A mutation.

Tsuyama, Naoko / Asaka, Reimi / Dobashi, Akito / Baba, Satoko / Mishima, Yuko / Ueda, Kyoko / Oguchi, Masahiko / Tsuji, Hideki / Hatake, Kiyohiko / Takeuchi, Kengo

Hematological oncology

2017

Abstract: Extranodal natural killer (NK)/T-cell lymphoma, nasal type (ENKTL) is an extranodal aggressive T or NK-cell lymphoma that is characteristically associated with Epstein-Barr virus (EBV) infection and cytotoxic tissue-destructive features. Although ENKTL ... ...

Abstract	Extranodal natural killer (NK)/T-cell lymphoma, nasal type (ENKTL) is an extranodal aggressive T or NK-cell lymphoma that is characteristically associated with Epstein-Barr virus (EBV) infection and cytotoxic tissue-destructive features. Although ENKTL is described as a distinct entity according to the 2008 WHO classification, a considerable complexity is associated with the differential diagnosis of other T-cell lymphomas with respect to tumour cell origins, locations, and the presence of EBV infection, as well as molecular and cytogenetic abnormalities. Here, we report a rare case of EBV-negative ENKTL, where the absence of EBV in the true NK-lineage cells was confirmed by extensive phenotypic and genotypic analyses. Furthermore, using the next-generation sequencing approach, we identified mutations in the tumour suppressor genes KDM6A and TP53. The clinicopathological characteristics were almost similar to those of EBV-positive ENKTL, except for the absence of EBV and histologically apparent angioinvasiveness. This is the first reported ENKTL case with mutations in the KDM6A gene. KDM6A is one of the histone-modifying genes that are mutated in many human diseases including haematological cancers. Epigenetic regulation of gene expression has recently been demonstrated in ENKTL, and a similar pathway is thought to play an oncogenic role in EBV-negative ENKTL. Our report shows the extent of comprehensive examination required before making a definitive diagnosis for NK- and T-cell neoplasms and broadens the therapeutic options for potential targets.
Language	English
Publishing date	2017-07-10
Publishing country	England
Document type	Case Reports
ZDB-ID	604884-5
ISSN	1099-1069 ; 0278-0232
ISSN (online)	1099-1069
ISSN	0278-0232
DOI	10.1002/hon.2459
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In stock of ZB MED Cologne/Königswinter

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Order via subito

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In stock of ZB MED Cologne/Königswinter

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In stock of ZB MED Cologne/Königswinter

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Full text online

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In stock of ZB MED Cologne/Königswinter

Order via subito