Publications by authors named "Yuki Naruke"

12 Publications

  • Page 1 of 1

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.

Mol Genet Metab Rep 2020 Sep 18;24:100601. Epub 2020 May 18.

Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.

Glycogen storage disease type IV (GSD IV) is a rare inborn metabolic disorder characterized by the accumulation of amylopectin-like glycogen in the liver or other organs. The hepatic subtype may appear normal at birth but rapidly develops to liver cirrhosis in infancy. Liver pathological findings help diagnose the hepatic form of the disease, supported by analyses of enzyme activity and gene variants. Pathology usually shows periodic acid-Schiff (PAS) positive hepatocytes resistant to diastase. We report two cases of hepatic GSD IV with pathology showing PAS positive hepatocytes that were mostly digested by diastase, which differ from past cases. Gene analysis was critical for the diagnosis. Both cases were found to have the same variants c.288delA (p.Gly97GlufsTer46) and c.1825G > A (p.Glu609Lys). These findings suggest that c.1825G > A variant might be a common variant in the non-progressive hepatic form of GSD IV.
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http://dx.doi.org/10.1016/j.ymgmr.2020.100601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7235638PMC
September 2020

Capillary hemangioma involved in filar lipoma: A case report.

Clin Neuropathol 2019 Jan/Feb;38(1):33-37

Filar lipomas are a subtype of spinal lipomas wherein adipose tissue accumulation is restricted to the filum terminale. Embryologically, filar lipomas are considered to occur because of the failure of secondary neurulation, although the precise mechanism is not yet completely understood. Involvement of ectopic mesodermal, ectodermal, and endodermal tissues in spinal lipomas has been occasionally reported, and the origin of these ectopic tissues has been supposed to be migration of pluripotent tissues, which exist during secondary neurulation. We report an infantile case of capillary hemangioma involved in filar lipoma. To our knowledge, this is the first report of a case of intradural extramedullary capillary hemangioma at the filum terminale. We suspected that the filar lesion arose during the late phase of secondary neurulation based on the clinical, anatomical, and histological characteristics.
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http://dx.doi.org/10.5414/NP301117DOI Listing
April 2019

An Acquired Form of Dandy-Walker Malformation with Enveloping Hemosiderin Deposits.

Case Rep Pediatr 2017 25;2017:3861608. Epub 2017 Oct 25.

Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan.

Dandy-Walker malformation (DWM) is a posterior fossa anomaly characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. The cyst of DWM rarely extends posteriorly to almost completely fill the entire posterior fossa, which mimics primary cerebellar agenesis, a cerebellar porencephalic cyst, and an arachnoid cyst due to the lack of clarity of the thin cystic wall. A 10-month-old female born at 23 weeks' gestation with cerebellar hemorrhage in the neonatal period was admitted to our hospital with dysphagia and side-to-side head bobbing. The detection of hemosiderin deposits enveloping the cyst wall by T2 star-weighted angiography (SWAN) was useful for the differential diagnosis of an acquired form of DWM from primary cerebellar agenesis. Cyst fenestration successfully improved dysphagia and head bobbing. A pathological specimen of the perforated cyst consisted of collagen fibers with hemosiderin deposits but lacked congenital cyst components. In infants with posterior fossa cysts, SWAN will be useful for a differential diagnosis between DWM and primary cerebellar agenesis.
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http://dx.doi.org/10.1155/2017/3861608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676387PMC
October 2017

Significance of p53-binding protein 1 (53BP1) expression in thyroid papillary microcarcinoma: association with BRAFV600E mutation status.

Histopathology 2013 Nov 5;63(5):726-34. Epub 2013 Sep 5.

Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki.

Aims: In a previous report, we proposed that analysis of 53BP1 expression by immunofluorescence could be a useful tool in estimating the level of genomic instability (GIN), as well as the malignant potential, of thyroid tumours. In an attempt to clarify the value of 53BP1 expression as a new molecular marker for the aggressiveness of thyroid papillary microcarcinoma (PMC), we assessed the association between the type of 53BP1 expression and clinicopathological features such as tumour size, extrathyroidal invasion, lymph node metastasis and BRAF(V) (600E) mutation of PMC.

Methods And Results: A total of 36 surgically resected thyroid tumours, including 13 PMC and 23 conventional papillary thyroid carcinomas (PTC), were available for this study. Analysis using immunofluorescence revealed that the incidence of an abnormal or high DNA damage response (DDR) type of 53BP1 expression was significantly higher in PTC than PMC. BRAF(V) (600E) mutation was not associated significantly with tumour aggressiveness in either PMC or PTC cases. Abnormal/high DDR type of 53BP1 expression was associated closely with both BRAF(V) (600E) mutation and papillary and/or trabecular architecture of PMC.

Conclusions: Abnormal/high DDR type of 53BP1 expression might be associated with GIN and papillary/trabecular morphology at an early stage of PTC carcinogenesis through BRAF(V) (600E) mutation.
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http://dx.doi.org/10.1111/his.12233DOI Listing
November 2013

Thyroid papillary carcinoma with solid sclerosing change in IgG4-related sclerosing disease.

Pathol Int 2011 Oct 11;61(10):589-92. Epub 2011 Jul 11.

Department of Pathology, National Nagasaki Medical Center, Kubara 2-1001-1, Omura, Nagasaki 856-8562, Japan.

IgG4-related sclerosing disease (IgG4-RSD) is an inflammatory and fibrosing disorder characterized by lymphoplasmacytic inflammation with infiltration of various organs, including the pancreas, bile ducts, lung, kidney, and retroperitoneum. As for malignancy in IgG4-RSD, only limited literature is available. We report here a case of thyroid papillary carcinoma showing unique morphology in IgG4-RSD. Solid tumor nests were surrounded by dense IgG4-positive plasma cells and fibrosis at both the primary site and metastatic lymph nodes. In contrast the background thyroid showed focal lymphocytic thyroiditis. IgG4-related sclerosing sialadenitis and autoimmune pancreatitis were also diagnosed, and prednisolone treatment improved symptoms and serum IgG4 abnormality. To the best of our knowledge, this is the first documentation of a malignancy of the thyroid gland occurring in a background of IgG4-RSD. A brief review of the literature on the relationship between IgG4 and malignancy is included.
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http://dx.doi.org/10.1111/j.1440-1827.2011.02701.xDOI Listing
October 2011

Aberrant expression of interferon regulatory factor 3 in human lung cancer.

Biochem Biophys Res Commun 2010 Jun 23;397(2):202-7. Epub 2010 May 23.

Division of Cytokine Signaling, Department of Molecular Microbiology and Immunology, Nagasaki University Graduate School of Biomedical Science, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.

We analyzed the subcellular distributions and gene structures of interferon regulatory factor 3 (IRF3) transcription factor in 50 cases of human primary lung cancer. The immunohistochemical analyses revealed substantially aberrant IRF3 expression specific to the cancer lesions (2 and 6 tumors with nuclear staining, and 4 and 5 tumors with negative staining, in adenocarcinoma and squamous cell carcinoma, respectively), while the morphologically normal region around the tumors exhibited only cytoplasmic staining. In addition, we determined the sequence of the entire IRF3 coding region, and found two novel variants with the amino acid changes (S(175)(AGC)-->R(175)(CGC) and A(208)(GCC)-->D(208)(GAC)). The R(175) variant was also detected in a morphologically normal region around the nuclear staining squamous cell carcinoma, and exhibited almost the same functions as the wild type IRF3. On the other hand, the D(208) variant, found in the negative staining squamous cell carcinoma cases, reduced the nuclear translocation in response to IkappaB kinase epsilon stimulation, as compared to the wild type IRF3, but the same variant was detected in the surrounding morphologically normal region. The aberrant expression of IRF3 and the novel D(208) variant may provide clues to elucidate the etiology of primary lung cancer.
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http://dx.doi.org/10.1016/j.bbrc.2010.05.085DOI Listing
June 2010

Genomic instability in the epidermis induced by atomic bomb (A-bomb) radiation: a long-lasting health effect in A-bomb survivors.

Cancer 2009 Aug;115(16):3782-90

Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Background: Radiation etiology is suggested in the occurrence of basal cell carcinoma (BCC) of the skin among atomic bomb (A-bomb) survivors. Any genotoxicity, including ionizing radiation, can induce a DNA damage response (DDR), leading to genomic instability (GIN), which allows the accumulation of mutations during tumorigenesis. In this study, the authors evaluated the presence of GIN in the epidermis of survivors as a late effect of A-bomb radiation.

Methods: In total, 146 BCCs, including 23 cases arising from nonexposed skin, were identified in survivors from 1968 to 1999. The incidence rate (IR) of BCC was calculated with stratification by distance in kilometers from the hypocenter (< or =1.5 km, 1.6-2.9 km, and > or =3 km). Nineteen epidermal samples surrounding BCC at the nonexposed sites were collected and tested for p53 binding protein 1 (53BP1) expression with immunofluorescence. 53BP1 rapidly forms nuclear foci at the sites of DNA double strand breaks (DSBs). Because 1 manifestation of GIN is the induction of endogenous DSBs, the level of 53BP1-focus formation (DDR type) can be considered as a marker for GIN.

Results: : The incidence rate of BCC increased significantly as exposure distance approached the hypocenter. Of the 7 epidermal samples from the proximal group (< or =1.5 km), 5 samples predominantly expressed DDR and an abnormal type of 53BP1 expression. In contrast, 4 of 5 samples from the distal group (> or =3 km) and all samples from the control group predominantly expressed the stable type of 53BP1 expression in the epidermis.

Conclusions: : The current results demonstrated the endogenous activation of DDR in the epidermis surrounding BCC in the proximal group, suggesting the presence of a GIN in the survivors as a late effect of A-bomb radiation, which may indicate a predisposition to cancer.
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http://dx.doi.org/10.1002/cncr.24405DOI Listing
August 2009

Immunohistochemical analyses of beta-catenin and cyclin D1 expression in giant cell tumor of bone (GCTB): a possible role of Wnt pathway in GCTB tumorigenesis.

Pathol Res Pract 2009 25;205(9):626-33. Epub 2009 Mar 25.

Department of Orthopedic Surgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Giant cell tumor of bone (GCTB) is a benign neoplasm but occasionally shows local recurrence, and histologically consists of osteoclast-like giant cells (GC) and stromal mononuclear cells (SC), which are capable of proliferation and osteoblastic differentiation. Activation of Wnt signaling can induce osteoblast differentiation and osteoclastgenesis during bone resorption process. This study analyzed the profiles of beta-catenin and cyclin D1 expression in GCTB to elucidate an involvement of Wnt pathway in tumorigenesis. We performed immunohistochemistry for beta-catenin, cyclin D1, and Ki-67 in 16 GCTB tumors, including 5 recurrent cases that were surgically resected. All 16 cases of GCTB displayed beta-catenin, cyclin D1, and Ki-67 expression. Immunoreactivity for beta-catenin was observed in nuclei of SC and GC. Cyclin D1 immunoreactivity was found mainly in nuclei of GC, while Ki-67 immunoreactivity was restricted to nuclei of SC. The nuclear beta-catenin labeling index (LI) in both SC (60.6 vs. 41.8%, p=0.074) and GC (41.7 vs. 20.1%, p=0.095) was higher in recurrent tumors than in primary tumors in all the 4 cases. However, Ki-67 LI in SC (18.8 vs. 19.9%, p=0.851) and cyclin D1 LI in GC (55.4 vs. 70.1%, p=0.225) were not higher in recurrent tumors than in primary tumors. Our results suggested activation of Wnt/ beta-catenin pathway in GCTB tumorigenesis. Since cyclin D1 in GC was never associated with the expression of the well-known proliferative marker Ki-67, cyclin D1 expression might play a role in GC formation instead of promoting cell proliferation during GCTB tumorigenesis. Importantly, it was suggested that the nuclear beta-catenin staining level might be associated with tumor recurrence in GCTB.
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http://dx.doi.org/10.1016/j.prp.2009.02.011DOI Listing
October 2009

Alteration of p53-binding protein 1 expression during skin carcinogenesis: association with genomic instability.

Cancer Sci 2008 May;99(5):946-51

Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki Unviersity Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.

Epidermal cells are the first cells to be exposed to environmental genotoxic agents such as ultraviolet and ionizing radiations, which induce DNA double strand breaks (DSB) and activate DNA damage response (DDR) to maintain genomic integrity. Defective DDR can result in genomic instability (GIN) which is considered to be a central aspect of any carcinogenic process. P53-binding protein 1 (53BP1) belongs to a family of evolutionarily conserved DDR proteins. Because 53BP1 molecules localize at the sites of DSB and rapidly form nuclear foci, the presence of 53BP1 nuclear foci can be considered as a cytological marker for endogenous DSB reflecting GIN. The levels of GIN were analyzed by immunofluorescence studies of 53BP1 in 56 skin tumors that included 20 seborrheic keratosis, eight actinic keratosis, nine Bowen's disease, nine squamous cell carcinoma, and 10 basal cell carcinoma. This study demonstrated a number of nuclear 53BP1 foci in human skin tumorigenesis, suggesting a constitutive activation of DDR in skin cancer cells. Because actinic keratosis showed a high DDR type of 53BP1 immunoreactivity, GIN seems to be induced at the precancerous stage. Furthermore, invasive cancers exhibited a high level of intense, abnormal 53BP1 nuclear staining with nuclear accumulation of p53, suggesting a disruption of DDR leading to a high level of GIN in cancer cells. The results of this study suggest that GIN has a crucial role in the progression of skin carcinogenesis. The detection of 53BP1 expression by immunofluorescence can be a useful histological marker to estimate the malignant potential of human skin tumors.
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http://dx.doi.org/10.1111/j.1349-7006.2008.00786.xDOI Listing
May 2008

Foci formation of P53-binding protein 1 in thyroid tumors: activation of genomic instability during thyroid carcinogenesis.

Int J Cancer 2008 Mar;122(5):1082-8

Division of Scientific Data Registry, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Defective DNA damage response (DDR) can result in genomic instability (GIN) and lead to the transformation into cancer. P53-binding protein 1 (53BP1) belongs to a family of evolutionarily conserved DDR proteins. Because 53BP1 molecules localize at the sites of DNA double strand breaks (DSBs) and rapidly form nuclear foci, the presence of 53BP1 foci can be considered as a cytologic marker for endogenous DSBs reflecting GIN. Although it has been proposed that GIN has a crucial role in the progression of thyroid neoplasms, the significance of GIN during thyroid tumorigenesis remains unclear, particularly in patients. We analyzed, therefore, the level of GIN, as detected with immunofluorescence of 53BP1, in 40 cases of resected thyroid tissues. This study demonstrated a number of nuclear 53BP1 foci in thyroid cancers, suggesting a constitutive activation of DDR in thyroid cancer cells. Because follicular adenoma also showed a few 53BP1 nuclear foci, GIN might be induced at a precancerous stage of thyroid tumorigenesis. Furthermore, high-grade thyroid cancers prominently exhibited an intense and heterogeneous nuclear staining of 53BP1 immunoreactivity, which was also observed in radiation-associated cancers and in mouse colonic crypts as a delayed response to a high dose ionizing radiation, suggesting increased GIN with progression of cancer. Thus, the present study demonstrated a difference in the staining pattern of 53BP1 during thyroid carcinogenesis. We propose that immunofluorescence analysis of 53BP1 expression can be a useful tool to estimate the level of GIN and, simultaneously, the malignant potency of human thyroid tumors.
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http://dx.doi.org/10.1002/ijc.23223DOI Listing
March 2008

Cyclin D1 overexpression in thyroid tumours from a radio-contaminated area and its correlation with Pin1 and aberrant beta-catenin expression.

J Pathol 2004 Apr;202(4):446-55

Tissue and Histopathology Section, Division of Scientific Data Registry, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto, Nagasaki, Japan.

Cyclin D1 is a target molecule transcriptionally activated by aberrant beta-catenin in Wnt signalling, while prolyl isomerase Pin1 promotes cyclin D1 overexpression directly or through accumulation of beta-catenin in cancer cells. This study aimed to elucidate whether Pin1 was involved in cyclin D1 overexpression and aberrant beta-catenin in thyroid tumourigenesis by examining 14 follicular adenomas (FAa) and 14 papillary thyroid carcinomas (PTCs). All PTCs displayed cyclin D1 overexpression and strong cytoplasmic beta-catenin and/or decreased membrane beta-catenin expression by immunohistochemistry. Overexpression of cyclin D1 mRNA was observed in 45.5% of FAs and 54.5% of PTCs by TaqMan real-time PCR. Pin1 expression was observed in PTC by immunostaining and was confirmed by reverse transcriptase-PCR. There was a strong correlation between cyclin D1 and Pin1/cytoplasmic/membrane beta-catenin expression (p < 0.001), and between Pin1 and cytoplasmic (p < 0.001)/membrane (p = 0.002) beta-catenin expression in thyroid tumours. Mutation of the beta-catenin gene could not be detected in PTC. Western blot analysis demonstrated high levels of cyclin D1 and beta-catenin as well as Pin1 expression in a human PTC cell line possessing wild-type beta-catenin and APC genes. This study suggests that both cyclin D1 overexpression and aberrant beta-catenin expression are of significance in thyroid tumours. Pin1 expression appears to correlate closely with the level of cyclin D1 and aberrant beta-catenin expression in thyroid tumours such as FA and PTC. Pin1 may be an important factor in regulating cyclin D1 and beta-catenin expression during thyroid carcinogenesis.
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http://dx.doi.org/10.1002/path.1534DOI Listing
April 2004