상단 PDF A Case of Malignant Peripheral Nerve Sheath Tumor with Neurofibromatosis Type 1

Superficial malignant peripheral nerve sheath tumor from recurrent neurofibroma in the abdominal wall of a patient without neurofibromatosis type 1

Superficial malignant peripheral nerve sheath tumor from recurrent neurofibroma in the abdominal wall of a patient without neurofibromatosis type 1

Malignant peripheral nerve sheath tumor (MPNST) is rare, accounting for 5–10% of all soft tis- sue sarcomas. MPNST is characteristically aggressive and has a poor prognosis. Fifty percent of patients with MPNST have neurofibromatosis type 1 (NF1). NF-associated MPNST occurs more often at younger ages than sporadic MPNST, but the survival difference is controversial. Super- ficial MPNST from a recurrent neurofibroma is extremely rare and only a limited number of cas- es have been reported in the literature. Herein, we report an unusual case of superficial MPNST from a recurrent neurofibroma in a patient without NF1.
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Primary hepatic malignant peripheral nerve sheath  tumor successfully treated with combination therapy:

Primary hepatic malignant peripheral nerve sheath tumor successfully treated with combination therapy:

a case report and literature review Hae Il Jung, Hyoung Uk Lee, Tae Sung Ahn, Jong Eun Lee, Hyun Yong Lee, Hyon Doek Cho 1 , Sang Cheol Lee 2 , Sang Ho Bae Departments of Surgery, 1 Pathology, and 2 Internal Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, Korea

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JKSSJournal of the Korean Surgical Society pISSN 2233-7903ㆍ

Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1

9 Small bowel More than 50 Trp557Gly in KIT exon 11 Present case These mutations do not correspond to the ‘GIST-typeof mutations and might therefore be random genetic events related to the tumor progression. Five ‘GIST typeof muta- tions were found in the NF1-associated GISTs. Yantiss at al. [5] found a point mutation (Val559Asp) of the KIT exon 11 in three tumors from a patient. However, the presence of identical mutations in separated tumors raises the pos- sibility of a germline mutation. Additionally, four muta- tions were identified in two other studies [4,6], i.e., two in-frame deletions (Trp557_Lys558del and Val560del) of the exon 11 and one duplication (Ala502_Tyr503dup) of the exon 9 of KIT and one PDGFRA mutation (Asp842Val) in the exon 18. One missense mutation (Trp557Gly) of the KIT exon 11 was identified in the extramural portion of the largest tumor found in the presented case. We consider that this is a ‘GIST type’ mutation. Both the intramural portion of the largest tumor and the other tumor had wild type KIT and PDGFRA. The mutational feature of the pre- sented case suggests that this mutation is not the initiation event, but might be an acquired genetic event which oc- curred at the ‘hot spot’ of the KIT mutation in the late phase of the development of NF1-associated GISTs.
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JKSSJournal of the Korean Surgical Society pISSN 2233-7903ㆍ

Spontaneous aortic rupture in a patient with neurofibromatosis type 1

Division of Vascular Surgery, Departments of Surgery, 1 Interventional Radiology, and 2 Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Neurofibromatosis type I (NF-1) is a rare autosomal dominant genetic disorder occurring in 1 in 3,000 individuals. Vasculopathy is a rarely reported finding in patients with NF-1. Here, we report a case of recurrent aortic pseudoaneurysm after endovascular aneurysm repair in a 49-year-old male patient with NF-1. On the sixth postoperative day following a suc- cessful open surgical repair of an aortic pseudoaneurysm, he developed hemoperitoneum due to a delayed rupture of the mesenteric artery branch. This was treated with endovascular coil embolization. We report the clinical features and histologic findings of this rare vascular disorder with a review of the relevant literature.
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JKSSJournal of the Korean Surgical Society

A giant retroperitoneal lymphangioma in a patient with neurofibromatosis type 1

Beyond all things, it is important to distinguish in- tra-abdominal lymphangioma from cystic forms of malignancy. Lymphangioma is characterized by stromal aggregates of lymphocytes, an endothelial lining that usually stains positively with factor VIII-related antigen or CD31, and that is often surrounded by a layer of smooth muscle tissue [8]. In this case report, the appearance of retroperitoneal lymphangioma at the abdominal CT scanning and distinc- tive pathologic findings are illustrated.

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Anesthetic management of neurofibromatosis type 1 patient

Anesthetic management of neurofibromatosis type 1 patient

Case Report A 56-year-old female pati.ent with a height of 158 cm and wei 잉 lt of 52.6kg was diagnosed with neurofibromatosis 앙 pe 1. Since her childhood. t.he patient had some skin lesions similar to a small lump and the lesion at the back did not protrude to cause any trouble in her daily acti.vity However. a skin lesion on the back became bigger enough to be saggy from a week before the hospital visit. She was admitted through the emergency room since bleeding had started from the lower paπ of the lesion (Figure J) ‘
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Synchronous multiple colonic adenocarcinomas arising  in patient with neurofibromatosis type 1

Synchronous multiple colonic adenocarcinomas arising in patient with neurofibromatosis type 1

Ik Yong Kim, Mee Yon Cho 1 , Young Wan Kim Departments of Surgery and 1 Pathology, Yonsei University Wonju College of Medicine, Wonju, Korea INTRODUCTION Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disorder and patients with NF1 have high risk for both benign and malignant tumors in their lifetime. However, adenocarcinomas involving the colon have rarely been reported in patients with NF1. In a large population-based cohort, 42 cases of colorectal cancer were observed among 8,003 people with NF type 1 and 2 [1]. Upon review of the literature, only eight cases, two of which were described in Korea [2,3], have been reported till now [4-8]. Hereby, we present a case of synchronous multiple colon adenocarcinomas in a patient with NF1 and provide characteristic clinical features based on the reported case series.
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Canine nervous-tissue tumors with features of peripheral nerve sheath tumor: histopathological and immunohistochemical findings

Canine nervous-tissue tumors with features of peripheral nerve sheath tumor: histopathological and immunohistochemical findings

The first case, A was a mass, 3∼4 cm in diameter, extruded from vaginal mucosa of 10-year-old spayed female mixed-breed dog. And the second case, B was a subcutaneous mass, 1.5 cm in diameter, which is originated from right hind leg of 9-year-old castrated male mixed-breed dog. Two cases were stained with hematoxylin and eosin (H&E) for histopathological examination. And also im- munohistochemistry (IHC) was performed by the avidin-biotin peroxidase complex (ABC) method with antibodies specific for the following proteins: S-100 protein, smooth muscle actin (SMA) and epidermal growth factor receptor (EGFR). In results, Antoni B schwannoma pattern characterized by pleomorphic, round and fusiform polygonal cells was seen in A. In B, Antoni A pattern, densely packed spindle cells arranged in interlacing bundles was seen in addition to Antoni B pattern. In IHC, cytoplasms of neo- plastic cells were diffusely labeled for S-100 expression in A and B. For SMA, both A and B show negative expression. And for EGFR, A shows negative expression but B shows partially positive ex- pression in areas of Antoni B schwannoma pattern. The histopathologic features of two cases coupled with the S-100 immunoreactivity led to a diagnosis of PNST. For SMA, both A and B show negative expression. The diagnosis of A will be a BPNST with the negative result and B will be a MPNST with the positive result for EGFR.
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Cutaneous peripheral nerve sheath tumors in 15 dogs

Cutaneous peripheral nerve sheath tumors in 15 dogs

Abstract : Peripheral nerve sheath tumors (PNSTs) are heterogeneous tumor groups of peripheral nerves that originate from either Schwann cells or modified Schwann cells, fibroblasts, or perineural cells. In this study, signalment and clinical data such as tumor location and size were evaluated for 15 cases of PNSTs collected from local animal hospitals. The mean age of dogs with malignant PNST was higher than that of dogs with benign PNST. Additionally, the male to female ratio in dogs with PNST was 1 : 4. In dogs with PNST, the primary sites of involvement were the hindlimb, forelimb, around the mammary glands, the neck, and the abdomen. Histiopathologic examination revealed that eight PNSTs were benign and seven were malignant. The tumor cells were composed of loosely to densely arranged interlacing bundles and wavy spindle cells arranged in short bundles, palisading, and whirling. High mitotic figures, local invasion, multifocal necrosis and atypical multinucleated giant cells were observed in malignant PNST cases.
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Schwannomas, arising from schwann cells of a nerve  sheath,  are  the  most  common  benign  tumors  of  the  peripheral nerves. They are also known as neurile momas,  and malignant transformation is rare.

Schwannomas, arising from schwann cells of a nerve sheath, are the most common benign tumors of the peripheral nerves. They are also known as neurile momas, and malignant transformation is rare.

Tel: 82-32-280-5207, Fax: 82-32-280-5040, E-mail: jaeminmd@gmail.com Schwannomas, arising from Schwann cells of a nerve sheath, are the most common benign tumors of the peripheral nerves. Schwannoma cause symptoms including paresthesia and motor weakness depending on involved nerves or pain after growing enough to compress surrounding soft tissue. Here in this case, schwannoma was originated from the median nerve at the mid humerus, but the tumor did not cause median neuropathic symptom but ulnar neuropathic symptom by compressing the ulnar nerve.
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JKSSJournal of the Korean Surgical Society pISSN 2233-7903ㆍ

Oncologic manifestations of neurofibromatosis type 1 in Korea

Eui Tae Kim, Hwan Namgung, Hyun Deok Shin 1 , Soon Il Lee 1 , Jee Eun Kwon 2 , Myung Chul Chang, Dong Guk Park Departments of Surgery, 1 Internal Medicine, and 2 Pathology, Dankook University College of Medicine, Cheonan, Korea Purpose: The aim of this study was to investigate the incidence and spectrum of malignant tumors in Korean neuro- fibromatosis type 1 (NF1) patients. Methods: We retrospectively reviewed 125 patients who were diagnosed with NF1 at a single institution from 1995 to 2010. The incidence, location, histologic type, and radiologic findings of malignant tumors as well as development of multiple primary tumors were analyzed. Results: Eighteen malignant tumors occurred in 16 patients (12.8%) among 125 Korean NF1 patients; 9 carcinomas, 8 sarcomas and 1 central nervous system (CNS) tumor. Five tumors were of nervous system origin and 13 were non-nervous system tumors. The locations of the tumors were as follow: 1 CNS, 2 lung, 3 breast, 3 stomach, 3 small bowel, 1 colon, 1 liver, 1 uterus, 1 neck, and 2 in extremities. Three malignant peripheral nerve sheath tumors (MPNSTs) occurred at the neck and extremity, and one in the liver. All three gastrointestinal stromal tu- mors (GISTs) had multiple tumors in the jejunum, and one MPNST and one pheochromocytoma were accompanied in two GISTs. Multiple primary tumors, benign or malignant were reported in 4 patients (25.0%), synchronously or metachronously.
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Fulminant course in a case of malignant phyllodes tumorYoung Woo Chang, Hwan Soo Kim, Deok Woo Kim

Fulminant course in a case of malignant phyllodes tumor

CASE REPORT A 31­year­old woman from Uzbekistan presented with an inflammatory and ulcerative mass in her right breast that had been there since 2011. The mass had grown rapidly over the past 3 months and it was extremely painful with a huge ulcerative wound (Fig. 1A). Breast ultrasonography and a core needle biopsy were performed initially in an outside breast clinic and the biopsy result was a diagnosis of invasive carcinoma of no specific type. She was referred to Korea University Medical Center, Ansan in January 2016, 2 weeks after being diagnosed.
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A case of thyroid malignant solitary fibrous tumor

A case of thyroid malignant solitary fibrous tumor

고 찰 흔치 않은 갑상선의 악성 고립성 섬유종양의 증례 1례 에 대해 보고하였다. 갑상선의 악성 고립성 섬유종양은 조직학적으로는 흉막에서 발견된 양성 고립성 섬유종양 과 비슷한 형태를 보이며, 이는 주로 단조로운 방추 섬유 아세포가 많은 양의 켈로이드성 세포내 콜라겐 다발과 함께 일정한 패턴 없이 자라 저세포성 영역을 고세포성 영역으로 바꾸는 형태로 관찰된다. 9) 면역염색학적으로 고립성 섬유종은 CD34, vimentin, bcl-2에 강한 양성을 보이며 이 중 확산되어 보이는 CD34 양성 착색이 가장 중요한 특성이다. 10) 1998 년 Vallat-Decouvelaere 등은 더 공격적인 성향을 보이는 이형성과 악성 흉부외 고립성 섬유종양의 특징을 다음과 같이 서술하였다: (i) 높은 세 포 충실도, (ii) 세포학적 이형성, (iii) 높은 빈도의 유사분 열 (4/10 High power field), (iv) 종양의 괴사 혹은 변연 침범. 11) 본 증례에서는 높은 세포 충실도, 뚜렷한 세포학 적 이형성, 높은 빈도의 유사분열을 보여 위 기준에 부합 하였으나 변연 침범이나 종괴 내 괴사는 보이지 않았다.
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(1) (malignant mixed mesodermal tumor

(1) (malignant mixed mesodermal tumor

MMMT is a highly aggressive and rapidly progressive tumor with a poor long-term prognosis. Though aggressive surgery is generally felt to be indicated for this tumor, there is no uniform opinion about adjuvant therapy. We have experienced a case of primary malignant mixed mesodermal tumor of the ovary and report it with a brief review of literatures.

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Lymphoepithelial cyst of the pancreas mimicking malignant cystic tumor: report of a case

Lymphoepithelial cyst of the pancreas mimicking malignant cystic tumor: report of a case

Fig. 5. A high-power view filed of the cyst-lining shows stratified squamous epithelium covering lymphoid tissue con- taining a lymphoid follicle (H&E, ×200). ally occur as a complication of pancreatitis. True cysts, on the other hand, are most often neoplastic. Recently, cystic pancreatic lesions have been well recognized and classified because of the increased use and higher fidelity of cross-sectional imaging studies. 4 However, in spite of the available technology, there is difficulty in differ- entiating benign cysts from those with malignant poten- tial, with non-invasive imaging. 5
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Mutational spectrum of NF1 gene in Korean patients with neurofibromatosis type 1

Mutational spectrum of NF1 gene in Korean patients with neurofibromatosis type 1

polymorphism, heteroduplex analysis, temperature gradient gel electrophoresis and denaturing gradient gel electrophoresis. In the largest study to date, involving 500 patients used a protein truncation test, temperature gradient gel electrophoresis, and direct genomic sequencing to examine all of the individual exons, finding sequence variants in 301 patients. Within these variants 278 mutations were considered pathogenic. 11 In two more papers published recently, the same methodologies were used sequentially to raise mutation detection rates. In the other study, using cDNA single strand conformation polymorphism and heteroduplex analysis, a detection rate of 70-80% of mutations was achieved (22 of 80 patients). 12 Messiaen et al. used a protein truncation test, fluorescence in situ hybridization, southern blot and cytogenetic analysis with 67 patients, and reported a detection rate of 95%, including a high frequency of unusual splicing defects. 13 The sensitivity of each technique is hard to establish, as mutation analysis reports have either concentrated on groups of exons, small number of patients included in their studies, or used a combination of techniques. In reviews of known NF1 mutations, several mutation types are described, but no correlation with phenotype was documented. Most of the fully characterised NF1 mutations are either nonsense or frameshift mutations, which presumably lead to premature truncation of neurofibromin synthesis. Large deletions of the NF1 gene are thought to account for less than 10% of cases. A relationship between whole gene deletions and a more severe NF1 phenotype has been reported. 14,15
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Folliculosebaceous cystic hamartoma in a patient with neurofibromatosis type I

Folliculosebaceous cystic hamartoma in a patient with neurofibromatosis type I

Corresponding author: Mi Ryung Roh, M.D., Department of Derma- tology and Cutaneous Research Institute, Yonsei University College of Medicine, 712 Eonjuro, Gangnam-gu, Seoul 135-720, Korea. Tel: 82-2-2019-3363, Fax: 82-2-3463-6136, E-mail: karenroh@yuhs.ac This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://

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Giant uterine mass with uterine smooth muscle tumor of uncertain malignant potential: A case report

Giant uterine mass with uterine smooth muscle tumor of uncertain malignant potential: A case report

however, myomectomy may be a reasonable option when considering patient age and desire to maintain fertility. Because the recurrence rates after myomectomy and hysterectomy are similar and most STUMP have a benign clinical feature, STUMP is managed successfully using these two methods (Guntupalli et al., 2009). Nevertheless, in rare cases, STUMP transforms into leiomyosarcoma if the recurrence occurs during follow-up, and may metastasize, with fatal consequences. Therefore, patients with STUMP should undergo close surveillance and consulta- tion with a gynecologic oncologist regarding several risk–benefit con- siderations, including age, desire to maintain fertility, and histopathologic results such as mitotic figures, degree of cellular atypia, and presence of CTCN.
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Metastatic pulmonalry calcification associated with malignant lymphoma: a case report

Metastatic pulmonalry calcification associated with malignant lymphoma: a case report

Metastatic pulmonary calcification associated with hypercalcemia or renal failure is well known but is infre quently diagnosed antemortem because of unsatisfactory radiographic det[r]

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Effects of nerve cells and adhesion molecules on nerve conduit for peripheral nerve regeneration

Effects of nerve cells and adhesion molecules on nerve conduit for peripheral nerve regeneration

With respects to methodology, the previous studies utilized many kinds of methods to measure cellular attachment on a given material. Trypan blue exclusion test, which was firstly employed, was a reliable method but had a large individual variation according to researchers. It was also not certain whether this test could detach and count all the cells on both inner and outer surface of the conduit. On the principle that dehydro- genase in mitochondria of viable cells changes yellow- colored soluble MTT to purple-colored insoluble MTT, MTT assay is sensitive, accurate, easy and rapid method [14]. It was useful in cell cytotoxicity test which could quantify cell viability. Because in culture system, almost all the nerve cells, including those used in this study, can survive on the condition that they attach to nerve conduit, this test was applied to quantifying cellular attachment on nerve conduit.
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