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医学部 附属病院 脳神経外科 |
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Ogasawara N., Yamashita S., Yamasaki K., Kawano T., Kawano T., Muta J., Matsumoto F., Watanabe T., Ohta H., Yokogami K., Fukushima T., Sato Y., Takeshima H.
Brain Tumor Pathology 40 ( 4 ) 222 - 229 2023年10月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Brain Tumor Pathology
Malignant peripheral nerve sheath tumors (MPNSTs) arising from the trigeminal nerves are extremely rare (only 45 cases, including the present case, have been published) and have been reported to develop de novo from the peripheral nerve sheath and are not transformed from a schwannoma or neurofibroma. Here, we report a case of MPNSTs of the trigeminal nerve caused by the malignant transformation of a trigeminal schwannoma, with a particular focus on genetic considerations. After undergoing a near-total resection of a histologically typical benign schwannoma, the patient presented with regrowth of the tumor 10 years after the primary excision. Histopathologic and immunochemical examinations confirmed the recurrent tumor to be an MPNST. Comprehensive genomic analyses (FoundationOne panel-based gene assay) showed that only the recurrent MPNST sample, not the initial diagnosis of schwannoma, harbored genetic mutations, including NF1-p.R2637* and TP53-p.Y234H, candidate gene mutations associated with malignant transformation. Moreover, the results of reverse transcription polymerase chain reaction showed that the fusion of SH3PXD2A and HTRA1, which has been reported as one of the responsible genetic aberrations of schwannoma, was detected in the recurrent tumor. Taken together, we could illustrate the accumulation process of gene abnormalities for developing MPNSTs from normal cells via schwannomas.
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Tamura M., Yokogami K., Watanabe T., Kawano T., Muta J., Yamashita S., Oguri N., Sato Y., Takeshima H.
Brain Tumor Pathology 40 ( 1 ) 40 - 44 2023年1月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Brain Tumor Pathology
Malignant craniopharyngioma is especially rare, so the causes and genetic mutations associated with the malignant transformation have not been explained in detail. We investigated the molecular genetic characteristics of malignant transformation in craniopharyngioma. A 53-year-old man with a history of adamantinomatous craniopharyngioma presented with complaints of subcutaneous swelling. Magnetic resonance imaging showed a less enhanced intradural supra-sellar lesion and a heterogeneously well-enhanced extradural invasive lesion infiltrating the dura mater, brain, frontal bone, and subcutaneous tissue. Histopathological examination of the recurrent tumor revealed typical findings of both craniopharyngioma (intradural supra-sellar lesion) and malignant transformation, such as marked nuclear atypia with mitosis (invasive extradural lesion), which were not present in the primary tumor. A genetic panel test with the Oncopanel system was performed to investigate the genetic mutations responsible for the malignant transformation. Four genetic mutations were identified: CTNNB1 c.C98T, TP53 p.C135fs*35(PLS = 3 UPD/LOH), PBRM1 p.R1000*(PLS = 3 UPD/LOH), and BAP1 p.L650fs*5(PLS = 3 UPD/LOH). Sanger sequencing showed CTNNB1 in both the intradural supra-sellar and extradural invasive lesions, but TP53, PBRM1, and BAP1 only in the extradural invasive lesion. The genetic mutations of PBRM1 and BAP1 may be genetic factors in the malignant transformation of adamantinomatous craniopharyngioma.
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Yamashita S., Takeshima H., Kadota Y., Azuma M., Fukushima T., Ogasawara N., Kawano T., Tamura M., Muta J., Saito K., Takeishi G., Mizuguchi A., Watanabe T., Ohta H., Yokogami K.
Brain Tumor Pathology 39 ( 2 ) 88 - 98 2022年4月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Brain Tumor Pathology
After the new molecular-based classification was reported to be useful for predicting prognosis, the T2-fluid-attenuated inversion recovery (FLAIR) mismatch sign has gained interest as one of the promising methods for detecting lower grade gliomas (LGGs) with isocitrate dehydrogenase (IDH) mutations and chromosome 1p/19q non-codeletion (IDH mut-Noncodel) with high specificity. Although all institutions could use T2-FLAIR mismatch sign without any obstacles, this sign was not completely helpful because of its low sensitivity. In this study, we attempted to uncover the mechanism of T2-FLAIR mismatch sign for clarifying the cause of this sign’s low sensitivity. Among 99 patients with LGGs, 22 were T2-FLAIR mismatch sign-positive (22%), and this sign as a marker of IDH mut-Noncodel showed a sensitivity of 55.6% and specificity of 96.8%. Via pathological analyses, we could provide evidence that not only microcystic changes but the enlarged intercellular space was associated with T2-FLAIR mismatch sign (p = 0.017). As per the molecular analyses, overexpression of mTOR-related genes (m-TOR, RICTOR) were detected as the molecular events correlated with T2-FLAIR mismatch sign (p = 0.020, 0.030. respectively). Taken together, we suggested that T2-FLAIR mismatch sign could pick up the IDH mut-Noncodel LGGs with enlarged intercellular space or that with overexpression of mTOR-related genes.
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竹枝による経眼窩的穿通損傷に伴い海綿静脈洞損傷を来した症例に対しハイブリット手術室で治療を行った１例. 査読あり
河野智樹
No Shinkei Geka 2020年7月
記述言語：日本語 掲載種別：研究論文（学術雑誌）
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Kawano T., Ohta H., Kawano T., Futami M., Ryu S., Sugimoto T., Akiba D., Yokogami K., Takeshima H.
No shinkei geka. Neurological surgery 48 ( 7 ) 607 - 613 2020年7月
記述言語：日本語 掲載種別：研究論文（学術雑誌） 出版者・発行元：No shinkei geka. Neurological surgery
Herein, we report a rare case of penetrating transorbital cavernous sinus injury caused by a bamboo stick, treated by craniotomy in a hybrid operating room. A 63-year-old gardener presented at our hospital with right upper orbital injury after falling on a bamboo basket. Neurological examination revealed right II, III, IV, and VI cranial nerve palsies. CT and MRI revealed a right transorbital penetrating injury by a small sharp wooden foreign body, extending from the orbit to the cavernous sinus via the superior orbital fissure. Preoperative digital subtraction angiography revealed partial occlusion of the right cavernous sinus by the foreign body and no internal carotid artery(ICA)injury. There was a nine-day waiting period after the injury because the patient was on dual antiplatelet therapy for ischemic heart disease. Subsequently, the bamboo stick was completely removed through the right fronto-temporo-orbito-zygomatic approach in a hybrid operating room. To treat the potential massive hemorrhage, a five-French balloon catheter was inserted in the right ICA at its origin via the right transfemoral approach before the craniotomy. The bamboo stick was completely removed with minor hemorrhage in the cavernous sinus; this was controlled using hemostatic materials. The postoperative course was uneventful. The patient was discharged with blindness and total ophthalmoplegia in the right eye but he was able to return to his prior job. This is the first report of such a treatment of a transorbital penetrating injury in a hybrid operating room.