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Biomedical subjects

Mitsuhiro Hasegawa

Publications and source records attributed to Mitsuhiro Hasegawa.

22 records · Page 2Linked to original sources

Metastasis of breast cancer to intracranial meningioma: case report.

Metastasis of systemic cancer to intracranial tumors is a rare event. The authors report a case of 49-year-old woman with such occurrence, whose breast cancer metastasized to a preexisting parasagittal meningioma at a postoperative interval of 1.5 years. She was admitted to our hospital because of progressive right hemiparesis. Magnetic resonance imaging revealed newly emerged perifocal edema and inhomogeneous contrast enhancement of the meningioma. High choline/creatine ratio and lactate/lipid peak on proton magnetic resonance spectroscopy suggested malignancy. She underwent a tumor resection, and pathologic examination revealed intratumoral metastasis of breast cancer in a transitional meningioma. Immunoreactivity of E-cadherin was detected in both meningioma and breast cancer cells. It is suggested that abrupt appearance of symptoms, inhomogeneous enhancement, and perifocal edema of meningioma is a sign of intratumoral metastasis from systemic cancers.

Bone Neoplasms↗

A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia.

OBJECT: It has been reported that due to premature synostosis of the lambdoid suture in the first 24 months of life, more than 70% of patients with Crouzon syndrome concurrently suffer from chronic tonsillar herniation (Chiari Type I malformation) and some (20%) associated syringomyelia. The goal of the present study was to examine mutations in the fibroblast growth factor receptor (FGFR) genes in Crouzon syndrome and its related conditions. METHODS: Five patients were studied: three with Crouzon syndrome (one sporadic and two familial), one with sporadic Chiari I with syringomyelia, and one with unilateral lambdoid synostosis. Deoxyribonucleic acid was screened for FGFR1-3 mutations by using single-strand conformational polymorphism and subsequent direct sequencing. Two types of missense mutations were detected in the FGFR2 gene, Cys342Trp (1205, TGC --> TGG) in a patient with sporadic Crouzon syndrome and Tyr281Cys (1021, TAC --> TGC) in two siblings (brother and sister) with familial Crouzon syndrome, respectively. The former has been reported only in sporadic cases but the latter has not previously been identified. A polymorphism in the FGFR3 gene, Asn294Asn (882, AAT --> AAC), was also detected in three patients. No mutation was found in the patient with sporadic Chiari I with syringomyelia. CONCLUSIONS: The FGFR2 missense mutation was detected in Crouzon syndrome but not in sporadic Chiari I with syringomyelia or lambdoid synostosis. A novel FGFR2 mutation, Tyr281Cys, was found in familial Crouzon syndrome with Chiari I and syringomyelia. It may be informative to look for this in patients with Crouzon syndrome and associated syringomyelia.

Adolescent↗

Genetic differences between neurocytoma and dysembryoplastic neuroepithelial tumor and oligodendroglial tumors.

OBJECT: Because of their histological similarities, it is occasionally difficult to differentiate neurocytoma and dysembryoplastic neuroepithelial tumor (DNT) from oligodendroglial tumors. This study was conducted to investigate genetic differences among these tumor types in terms of loss of heterozygosity on chromosomes 1p and 19q, and p53 gene mutation. METHODS: A total of 24 tumors were analyzed, consisting of eight central neurocytomas, three DNTs, seven oligodendrogliomas, four oligoastrocytomas, and two undetermined extraventricular tumors with neurocytoma features (ETNFs). Allelic loss was determined using microsatellite markers that cover the common deletions on chromosomes 1p and 19q in oligodendrogliomas. A p53 gene mutation was identified using polymerase chain reaction-single-strand conformation polymorphism analysis and subsequent direct sequencing. Immunohistochemical studies with synaptophysin and electron microscopy investigations were also conducted. Allelic loss on 1p and 19q was detected in six oligodendrogliomas (86%) and in three oligoastrocytomas (75%), but in none of the central neurocytomas or DNTs. A p53 missense mutation was detected at codon 161 (GCC-->ACC, Ala-->Thr) in only one oligoastrocytoma without allelic loss. Synaptophysin was expressed in all central neurocytomas and DNTs, in three oligodendrogliomas (43%), and in three oligoastrocytomas (75%). Of the ETNFs, one demonstrated synaptophysin expression and neural ultrastructures but lacked genetic alterations, whereas the other showed allelic loss on 1p and 19q but was negative immunohistochemically and ultrastructurally. The former was diagnosed as a potential intraparenchymal neurocytoma and the latter as an oligodendroglioma. CONCLUSIONS: Despite histological similarities, central neurocytomas and DNTs are genetically distinct from oligodendroglial tumors. Examination for allelic loss on 1p and 19q and for p53 mutation can be useful for making this distinction.

Adolescent↗

Cyanotic breath-holding spell: a life-threatening complication after radical resection of a cervicomedullary ganglioglioma.

Cyanotic breath-holding spell is a benign and self-limiting disease of young children but occasionally associated with sudden, unexpected death. The authors report a rare case in a 2-year-old girl with a severe form that started after radical resection of a cervicomedullary ganglioglioma. She was admitted to our hospital because of delayed and unstable gait. Since magnetic resonance imaging showed a cervicomedullary tumor, she underwent a radical resection and histology showed the tumor to be a ganglioglioma. Postoperatively, the function of the lower cranial nerves and cerebellum deteriorated and hemiparesis on the left became apparent, but she returned to the preoperative state in a few months. In addition, mild sleep apnea (Ondine curse) and severe cyanotic breath-holding spells occurred. The former responded to medication but the latter failed and continued several times per day with a rapid onset and progression of hypoxemia, loss of consciousness, sweating and opisthotonos. Five months after the operation, the patient returned home with a portable oxygen saturation monitor equipped with an alarm. This case indicates that cyanotic breath-holding spell, as well as sleep apnea, is critical during the early postoperative period. This is the first report observing that such spells may occur as a complication of radical resection of a cervicomedullary tumor.

Apnea↗