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A Case of Spontaneous Carotid-cavernous Fistula in a Patient with Vascular Ehlers-Danlos Syndrome. 査読あり
Kawano T, Horinouchi S, Tamura M, Kawano T, Ohta H
NMC Case Report Journal 11 ( 0 ) 345 - 352 2024年12月
担当区分：筆頭著者, 最終著者 記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：一般社団法人 日本脳神経外科学会
Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder that is characterized by vascular lesions mainly caused by vascular fragility, such as spontaneous carotid-cavernous fistula (sCCF). We experienced a patient who presented with sCCF but suffered postoperative multiple vascular arteriopathy complications caused by undiagnosed vEDS. A 39-year-old woman who had no physical and medical characteristics indicating vEDS was referred to our hospital due to sudden onset of headache and pulsatile tinnitus. Digital subtraction angiography revealed direct sCCF of the left internal carotid artery. Internal trapping with coils was performed using the bilateral transfemoral artery approach, and complete occlusion of the high-flow fistula was achieved. At the end of the procedure, left femoral angiography via the sheath revealed extravasation from the puncture site. Hemostasis using an Angio-Seal hemostasis device under proximal balloon protection standby was immediately performed, and complete hemostasis was achieved. Postoperative abdominal computed tomography (CT) revealed a huge retroperitoneal hematoma. To improve the patient's hypovolemic shock conditions, hypervolemic therapy was administered, and her vital signs normalized. Approximately 10 days after the treatment, abdominal CT revealed pseudoaneurysm at the bilateral puncture sites and dissection of the left external iliac artery. Based on the clinical events, vEDS was strongly suspected. The genetic test revealed collagen type III alpha 1 chain gene abnormality, which led to a definite diagnosis. The symptoms improved, and follow-up CT showed spontaneous healing of both vascular arteriopathies with no recurrence. Attention should be paid to the risk of vascular arteriopathy complications during the perioperative period in patients with vEDS.
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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
担当区分：筆頭著者, 最終著者 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
担当区分：筆頭著者, 最終著者 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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症例 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ド手術室で治療を行った1例 査読あり
河野 智樹, 大田 元, 河野 朋宏, 二見 宗智, 笠 新逸, 杉本 哲朗, 秋葉 大輔, 横上 聖貴, 竹島 秀雄
Neurological Surgery 脳神経外科 48 ( 7 ) 607 - 613 2020年7月
担当区分：筆頭著者, 最終著者 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：株式会社医学書院
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.