BACKGROUND Choristoma is a rare,benign,congenital proliferative tumor,with osseous choristoma being the rarest.Although the tumor is benign,effective identification is needed for its diagnosis and treatment.Here,we re...BACKGROUND Choristoma is a rare,benign,congenital proliferative tumor,with osseous choristoma being the rarest.Although the tumor is benign,effective identification is needed for its diagnosis and treatment.Here,we report the diagnosis and successful surgical treatment of two patients with osseous choristoma.CASE SUMMARY Two patients,a young female and young male patient,were found to have a mass on the ocular surface.The tumor presented on the superior temporal bulbar conjunctiva in the first patient and on the upper eyelid in the second patient.Ultrasound biomicroscopy detected a strong echo with clear boundaries covering the lower echo,and computed tomography examination revealed calcification.Both patients underwent surgery,and histopathological evaluation of the mass showed osseous choristoma.They were treated by excision and subsequently cured.CONCLUSION Osseous choristomas are usually asymptomatic.Our patients were cured immediately after surgery,suggesting that surgical treatment is an effective strategy.展开更多
BACKGROUND Liver tissue situated outside the liver with a hepatic connection is usually calledan accessory liver, and that without a connection to the mother liver, is calledectopic liver tissue.AIM To identify studie...BACKGROUND Liver tissue situated outside the liver with a hepatic connection is usually calledan accessory liver, and that without a connection to the mother liver, is calledectopic liver tissue.AIM To identify studies in the literature on ectopic liver tissue located on thegallbladder surface or mesentery.METHODS We present two patients and review published articles on ectopic liver tissuelocated on the gallbladder surface accessed via PubMed, MEDLINE, GoogleScholar, and Google databases. Keywords used included accessory liver lobe,aberrant liver tissue, ectopic liver tissue, ectopic liver nodule, heterotopic livertissue, hepatic choristoma, heterotopic liver tissue on the gallbladder, and ectopicliver tissue on the gallbladder. The search included articles published before June2020 with no language restriction. Letters to the editor, case reports, reviewarticles, original articles, and meeting presentations were included in the search.Articles or abstracts containing adequate information on age, sex, history of liverdisease, preliminary diagnosis, radiologic tools, lesion size, surgical indication,surgical procedure, and histopathological features of ectopic liver tissue wereincluded in the study.RESULTS A total of 72 articles involving 91 cases of ectopic liver tissue located on the gallbladder surface or mesentery were analyzed. Of these 91 patients, 62 werefemale and 25 were male (no gender available for 4 patients), and the age rangewas 5 d to 91 years. Forty-nine patients underwent surgery for chroniccholecystitis or cholelithiasis, and 14 patients underwent surgery for acutecholecystitis. The remaining 28 patients underwent laparotomy for other reasons.Cholecystectomy was laparoscopic in 69 patients and open in 11 patients. Theremaining 19 patients underwent various other surgical procedures such asautopsy, liver transplantation, living donor hepatectomy, Whipple procedure, andliver segment V resection. Histopathologically, hepatocellular carcinoma wasdetected in the ectopic liver tissue of one patient.CONCLUSION Ectopic liver tissue is a rare developmental anomaly which is usually detectedincidentally. Although most studies suggest that ectopic liver located outside thegallbladder has a high risk of hepatocellular carcinoma, this is not reflected instatistical analysis.展开更多
Conductive hearing loss due to middle ear masses is uncommon and usually diagnosed after biopsy. We present a case of a permanent facial palsy occurred following an uneventful biopsy during an exploratory tympanotomy ...Conductive hearing loss due to middle ear masses is uncommon and usually diagnosed after biopsy. We present a case of a permanent facial palsy occurred following an uneventful biopsy during an exploratory tympanotomy in a salivary gland choristoma of the middle ear. Most salivary gland choristomas have been found in the head and neck. Its location in the ear is extremely rare, and thus we present the 38th case in English and non-English literature from the first publication by Taylor in 1961. Complete surgical removal of salivary gland choristomas of the middle ear is indicated when may not result in permanent damage to the facial nerve. Only biopsy and observation are recommended when the mass is intimately associated with the facial nerve or there are unsafe facial nerve abnormalities. Although the facial nerve is involved in 40% of cases, transient or even permanent facial palsies are exceptional. The reactivation of latent herpes virus in the facial canal may be involved in facial palsy’ etiology following minimal and uneventful middle ear surgery like a biopsy rather than nerve injury related to facial canal malformations.展开更多
Background: Neuromuscular choristoma is a rare benign peripheral neuropathy composed of ectopic mature muscle fibers and nerve bundles, usually involving large nerve roots or trunks, such as brachial plexus and sciati...Background: Neuromuscular choristoma is a rare benign peripheral neuropathy composed of ectopic mature muscle fibers and nerve bundles, usually involving large nerve roots or trunks, such as brachial plexus and sciatic nerve. NMC usually occurs in childhood, and some cases are congenital. Here, we report a case of adult orbital intraconal NMC. The resected specimens were fish-like and tough. Histological pathology suggested that the specimen was composed of mature skeletal muscle tissue interspersed with peripheral nerve bundles. Histopathological examination revealed that the left orbital mass was composed of mature skeletal muscle tissue interspersed with surrounding nerve fascicles. Immunohistochemistry: S-100 protein was positive. In general, postoperative histopathological examination ultimately determined the diagnosis of NMC in the intraconal region of the orbital muscle. Case Presentation: A 51-year-old female patient was admitted to the hospital due to periocular pain for 2 weeks. Orbital CT scan showed an irregular soft tissue density in the left orbital muscle cone area, and the boundary between the local and the left lateral rectus muscle was unclear. Magnetic resonance imaging showed that there was an oval abnormal signal in the posterior lateral space of the left eyeball, with a clear edge and a size of about 22 mm × 8 mm. The boundary between the local area and the left lateral rectus muscle was unclear, and the optic nerve was compressed to the right side. The T1 WI showed low signal, T2-FS showed high and low mixed signal, and the enhanced scan showed continuous obvious enhancement. Eventually, the patient underwent surgical resection of the lesion. Conclusions: NMC is a rare benign peripheral neuropathy, especially NMC in the orbital muscle cone. There is no specificity in clinical and imaging examinations. Accurate diagnosis before surgical resection is very challenging for clinicians and radiologists. Importantly, we can differentiate orbital NMC from other types of orbital tumors.展开更多
We describe the case of a nine-month-old patient with a nasopharyngeal choristoma.The case presented includes the retrospective review of the historical,radiological,surgical and histological assessment of this pathol...We describe the case of a nine-month-old patient with a nasopharyngeal choristoma.The case presented includes the retrospective review of the historical,radiological,surgical and histological assessment of this pathology as well as a literature review of this entity.This case was presented in an infant with difficulty feeding,nasal obstruction and failure to thrive,evaluated with flexible nasal endoscopy,CT and MRI.The lesion was then surgically removed without complications.Nasopharyngeal choristoma is a rare congenital nonmalignant mass,which may present within a range of symptoms and severity according to its size,growth and location.展开更多
To the Editor:Salivary gland choristoma of the middle ear is a normal salivary gland tissue located in the middle ear.It is a benign and slow growing neoplasm that usually involves the ossicular chain and facial nerve...To the Editor:Salivary gland choristoma of the middle ear is a normal salivary gland tissue located in the middle ear.It is a benign and slow growing neoplasm that usually involves the ossicular chain and facial nerve,[1,2]and most of the patients usually suffer from conductive hearing loss without tympanic membrane(TM)perforation.The histological feature consisted of normal salivary gland tissue with a mass covered by ciliated columnar epithelium.To the best of our knowledge,it was first described by Buckmiller et al.[3]We presented a rare case of salivary gland choristoma in which the patient had a history of hamartoma in the pharynx and the mass was covered by squamous epithelium.展开更多
Cystic dystrophy of the duodenal wall is a rare condition characterized by the development of cysts in heterotopic pancreatic tissue localized in the duodenal wall.A 38-year- old man was admitted to the hospital for a...Cystic dystrophy of the duodenal wall is a rare condition characterized by the development of cysts in heterotopic pancreatic tissue localized in the duodenal wall.A 38-year- old man was admitted to the hospital for abdominal pain and vomiting after food intake.The diagnosis of acute pancreatitis was initially suspected.Abdominal ultrasound examination revealed thickening of the second portion of duodenal wall within which,small cysts(diameter,less than 1 cm)were present in the vicinity of pancreatic head. The head of pancreas appeared enlarged(63 mm×42 mm) and hypoechoic.Upper endoscopy and barium X-ray series were performed revealing a severe circumferential deformation,as well as 4 cm long stenosis of the second portion of the duodenum.CT examination revealed multiple cysts located in an enlarged,thickened duodenal wall with moderate to strong post-contrast enhancement.We suspected that patient had cystic dystrophy of duodenal wall developed in the heterotopic pancreas and diagnosis was confirmed by endoscopic ultrasound(EUS).Endoscopic ultrasound(EUS)revealed circular stenosis from the duodenal bulb onwards.A twenty megahertz mini-prope examination further showed diffuse(intramural)infiltration of duodenal wall limited to the submucosa and muscularis propria of the second portion of duodenum with multiple microcysts within the thickened mucosa and submucosa.Patient was successfully surgically treated and pancreatoduodenectomy was performed.The pathological examination confirmed a diagnosis of cystic dystrophy of a heterotopic pancreas. Endoscopic ultrasonography features allow preoperative diagnosis of cystic dystrophy of a heterotopic pancreas in duodenal wall,with intralumina120 MHz mini probe sonography being more efficient in cases of luminal stenosis.展开更多
We report a case of intraductal papillary mucinous neoplasm(IPMN) originating from the ileal heterotopic pancreas in a patient with hereditary non-polyposis colorectal cancer(HNPCC). A 49-year-old woman had a past his...We report a case of intraductal papillary mucinous neoplasm(IPMN) originating from the ileal heterotopic pancreas in a patient with hereditary non-polyposis colorectal cancer(HNPCC). A 49-year-old woman had a past history of total colectomy and total hysterectomy with bilateral salpingo-oophorectomy due to colonic adenocarcinoma and endometrial adenocarcinoma 11 years ago. Her parents died from colonic adenocarcinoma and her sister died from colonic adenocarcinoma and endometrial adenocarcinoma. The clinician found an ileal mass with necrotic change and the mass increased in size from 1.7 cm to 2.2 cm during the past 2 years on computed tomography. It was surgically resected. Microscopically, the ileal mass showed heterotopic pancreas with IPMN high grade dysplasia. Immunohistochemical staining revealed positive reactivity for MLH1/PMS2 and negative reactivity for MSH2/MSH6. This is the first report of IPMN originating from the ileal heterotopic pancreas in a patient with HNPCC in the English literature.展开更多
Bleeding from renal angiomyolipoma in pregnancy can be catastrophic to both mother and fetus. Selective arterial embolisation is considered more superior than conventional surgery in these patients. Our case report ex...Bleeding from renal angiomyolipoma in pregnancy can be catastrophic to both mother and fetus. Selective arterial embolisation is considered more superior than conventional surgery in these patients. Our case report exemplifies how a bleeding angiomyolipoma was halted with embolisation in our pregnant patient.展开更多
Hairy polyp is an unusual, rare benign developmental malformation of neonates and infants. Embryologically, they are benign lesions containing of both ectodermal and mesodermal origin. Based on size, location of the l...Hairy polyp is an unusual, rare benign developmental malformation of neonates and infants. Embryologically, they are benign lesions containing of both ectodermal and mesodermal origin. Based on size, location of the lesion, they can produce symptoms such as feeding difficulties, airway obstructions, apneic episodes. We present a case of hairy polyp at Oro/Nasopharynx causing feeding difficulties immediately after birth. We explained the mode of presentation, imaging studies, treatment, and review of literature of congenital hairy polyp/choristoma.展开更多
目的探讨神经肌肉迷芽瘤相关的韧带样型纤维瘤病(neuromuscular choristoma-associated desmoid type fibromatosis,NMC-DF)临床病理及分子遗传学特征。方法收集北京积水潭医院2013年1月至2023年1月明确诊断为NMC-DF的病例7例,对其临床...目的探讨神经肌肉迷芽瘤相关的韧带样型纤维瘤病(neuromuscular choristoma-associated desmoid type fibromatosis,NMC-DF)临床病理及分子遗传学特征。方法收集北京积水潭医院2013年1月至2023年1月明确诊断为NMC-DF的病例7例,对其临床、组织形态及免疫组织化学特点进行回顾性分析,采用Sanger测序法对4例患者的神经肌肉迷芽瘤(neuromuscular choristoma,NMC)及韧带样型纤维瘤病(desmoid type fibromatosis,DF)标本分别进行检测,明确CTNNB1基因的突变类型。结果7例患者中女性3例,男性4例,年龄1~22岁,平均年龄7.1岁。病程3个月到10年不等。2例为复发后就诊病例。肿瘤位于大腿3例,小腿1例,上臂1例,颈部1例,影像学提示7例肿瘤均有相应部位神经增粗,4例为坐骨神经,1例为坐骨神经、胫神经、腓总神经全程瘤样增粗,2例为臂从神经,肿瘤与病变神经关系密切。7例病变的神经束内可见骨骼肌纤维,残存的神经纤维穿插其中,呈神经肌肉迷芽瘤的结构;肿瘤均具有典型的韧带样型纤维瘤病结构。免疫组织化学,NMC中部分肌纤维细胞核表达β-catenin(7/7),肌纤维结蛋白弥漫阳性,神经纤维神经丝蛋白和S-100蛋白阳性(7/7);NMC-DF中β-catenin在肿瘤细胞核中呈散在阳性(7/7)。CTNNB1基因Sanger测序,3例c.121A>G(p.T41A)突变,1例c.134C>T(p.S45F)突变。7例获得随访资料,随访时间22~78个月,2例为复发后就诊,其中1例截肢后再次复发,其余无进展。结论NMC是一种罕见的神经发育畸形性病变,神经干内可见异位的骨骼肌纤维,约80%的病例在病变神经周围软组织内伴发DF,组织形态与经典的DF相同,Wnt信号通路中的CTNNB1基因突变与二者的发生发展密切相关,CTNNB1 c.134C>T(p.S45F)突变可能提示不良预后。展开更多
文摘BACKGROUND Choristoma is a rare,benign,congenital proliferative tumor,with osseous choristoma being the rarest.Although the tumor is benign,effective identification is needed for its diagnosis and treatment.Here,we report the diagnosis and successful surgical treatment of two patients with osseous choristoma.CASE SUMMARY Two patients,a young female and young male patient,were found to have a mass on the ocular surface.The tumor presented on the superior temporal bulbar conjunctiva in the first patient and on the upper eyelid in the second patient.Ultrasound biomicroscopy detected a strong echo with clear boundaries covering the lower echo,and computed tomography examination revealed calcification.Both patients underwent surgery,and histopathological evaluation of the mass showed osseous choristoma.They were treated by excision and subsequently cured.CONCLUSION Osseous choristomas are usually asymptomatic.Our patients were cured immediately after surgery,suggesting that surgical treatment is an effective strategy.
文摘BACKGROUND Liver tissue situated outside the liver with a hepatic connection is usually calledan accessory liver, and that without a connection to the mother liver, is calledectopic liver tissue.AIM To identify studies in the literature on ectopic liver tissue located on thegallbladder surface or mesentery.METHODS We present two patients and review published articles on ectopic liver tissuelocated on the gallbladder surface accessed via PubMed, MEDLINE, GoogleScholar, and Google databases. Keywords used included accessory liver lobe,aberrant liver tissue, ectopic liver tissue, ectopic liver nodule, heterotopic livertissue, hepatic choristoma, heterotopic liver tissue on the gallbladder, and ectopicliver tissue on the gallbladder. The search included articles published before June2020 with no language restriction. Letters to the editor, case reports, reviewarticles, original articles, and meeting presentations were included in the search.Articles or abstracts containing adequate information on age, sex, history of liverdisease, preliminary diagnosis, radiologic tools, lesion size, surgical indication,surgical procedure, and histopathological features of ectopic liver tissue wereincluded in the study.RESULTS A total of 72 articles involving 91 cases of ectopic liver tissue located on the gallbladder surface or mesentery were analyzed. Of these 91 patients, 62 werefemale and 25 were male (no gender available for 4 patients), and the age rangewas 5 d to 91 years. Forty-nine patients underwent surgery for chroniccholecystitis or cholelithiasis, and 14 patients underwent surgery for acutecholecystitis. The remaining 28 patients underwent laparotomy for other reasons.Cholecystectomy was laparoscopic in 69 patients and open in 11 patients. Theremaining 19 patients underwent various other surgical procedures such asautopsy, liver transplantation, living donor hepatectomy, Whipple procedure, andliver segment V resection. Histopathologically, hepatocellular carcinoma wasdetected in the ectopic liver tissue of one patient.CONCLUSION Ectopic liver tissue is a rare developmental anomaly which is usually detectedincidentally. Although most studies suggest that ectopic liver located outside thegallbladder has a high risk of hepatocellular carcinoma, this is not reflected instatistical analysis.
文摘Conductive hearing loss due to middle ear masses is uncommon and usually diagnosed after biopsy. We present a case of a permanent facial palsy occurred following an uneventful biopsy during an exploratory tympanotomy in a salivary gland choristoma of the middle ear. Most salivary gland choristomas have been found in the head and neck. Its location in the ear is extremely rare, and thus we present the 38th case in English and non-English literature from the first publication by Taylor in 1961. Complete surgical removal of salivary gland choristomas of the middle ear is indicated when may not result in permanent damage to the facial nerve. Only biopsy and observation are recommended when the mass is intimately associated with the facial nerve or there are unsafe facial nerve abnormalities. Although the facial nerve is involved in 40% of cases, transient or even permanent facial palsies are exceptional. The reactivation of latent herpes virus in the facial canal may be involved in facial palsy’ etiology following minimal and uneventful middle ear surgery like a biopsy rather than nerve injury related to facial canal malformations.
文摘Background: Neuromuscular choristoma is a rare benign peripheral neuropathy composed of ectopic mature muscle fibers and nerve bundles, usually involving large nerve roots or trunks, such as brachial plexus and sciatic nerve. NMC usually occurs in childhood, and some cases are congenital. Here, we report a case of adult orbital intraconal NMC. The resected specimens were fish-like and tough. Histological pathology suggested that the specimen was composed of mature skeletal muscle tissue interspersed with peripheral nerve bundles. Histopathological examination revealed that the left orbital mass was composed of mature skeletal muscle tissue interspersed with surrounding nerve fascicles. Immunohistochemistry: S-100 protein was positive. In general, postoperative histopathological examination ultimately determined the diagnosis of NMC in the intraconal region of the orbital muscle. Case Presentation: A 51-year-old female patient was admitted to the hospital due to periocular pain for 2 weeks. Orbital CT scan showed an irregular soft tissue density in the left orbital muscle cone area, and the boundary between the local and the left lateral rectus muscle was unclear. Magnetic resonance imaging showed that there was an oval abnormal signal in the posterior lateral space of the left eyeball, with a clear edge and a size of about 22 mm × 8 mm. The boundary between the local area and the left lateral rectus muscle was unclear, and the optic nerve was compressed to the right side. The T1 WI showed low signal, T2-FS showed high and low mixed signal, and the enhanced scan showed continuous obvious enhancement. Eventually, the patient underwent surgical resection of the lesion. Conclusions: NMC is a rare benign peripheral neuropathy, especially NMC in the orbital muscle cone. There is no specificity in clinical and imaging examinations. Accurate diagnosis before surgical resection is very challenging for clinicians and radiologists. Importantly, we can differentiate orbital NMC from other types of orbital tumors.
文摘We describe the case of a nine-month-old patient with a nasopharyngeal choristoma.The case presented includes the retrospective review of the historical,radiological,surgical and histological assessment of this pathology as well as a literature review of this entity.This case was presented in an infant with difficulty feeding,nasal obstruction and failure to thrive,evaluated with flexible nasal endoscopy,CT and MRI.The lesion was then surgically removed without complications.Nasopharyngeal choristoma is a rare congenital nonmalignant mass,which may present within a range of symptoms and severity according to its size,growth and location.
文摘To the Editor:Salivary gland choristoma of the middle ear is a normal salivary gland tissue located in the middle ear.It is a benign and slow growing neoplasm that usually involves the ossicular chain and facial nerve,[1,2]and most of the patients usually suffer from conductive hearing loss without tympanic membrane(TM)perforation.The histological feature consisted of normal salivary gland tissue with a mass covered by ciliated columnar epithelium.To the best of our knowledge,it was first described by Buckmiller et al.[3]We presented a rare case of salivary gland choristoma in which the patient had a history of hamartoma in the pharynx and the mass was covered by squamous epithelium.
文摘Cystic dystrophy of the duodenal wall is a rare condition characterized by the development of cysts in heterotopic pancreatic tissue localized in the duodenal wall.A 38-year- old man was admitted to the hospital for abdominal pain and vomiting after food intake.The diagnosis of acute pancreatitis was initially suspected.Abdominal ultrasound examination revealed thickening of the second portion of duodenal wall within which,small cysts(diameter,less than 1 cm)were present in the vicinity of pancreatic head. The head of pancreas appeared enlarged(63 mm×42 mm) and hypoechoic.Upper endoscopy and barium X-ray series were performed revealing a severe circumferential deformation,as well as 4 cm long stenosis of the second portion of the duodenum.CT examination revealed multiple cysts located in an enlarged,thickened duodenal wall with moderate to strong post-contrast enhancement.We suspected that patient had cystic dystrophy of duodenal wall developed in the heterotopic pancreas and diagnosis was confirmed by endoscopic ultrasound(EUS).Endoscopic ultrasound(EUS)revealed circular stenosis from the duodenal bulb onwards.A twenty megahertz mini-prope examination further showed diffuse(intramural)infiltration of duodenal wall limited to the submucosa and muscularis propria of the second portion of duodenum with multiple microcysts within the thickened mucosa and submucosa.Patient was successfully surgically treated and pancreatoduodenectomy was performed.The pathological examination confirmed a diagnosis of cystic dystrophy of a heterotopic pancreas. Endoscopic ultrasonography features allow preoperative diagnosis of cystic dystrophy of a heterotopic pancreas in duodenal wall,with intralumina120 MHz mini probe sonography being more efficient in cases of luminal stenosis.
文摘We report a case of intraductal papillary mucinous neoplasm(IPMN) originating from the ileal heterotopic pancreas in a patient with hereditary non-polyposis colorectal cancer(HNPCC). A 49-year-old woman had a past history of total colectomy and total hysterectomy with bilateral salpingo-oophorectomy due to colonic adenocarcinoma and endometrial adenocarcinoma 11 years ago. Her parents died from colonic adenocarcinoma and her sister died from colonic adenocarcinoma and endometrial adenocarcinoma. The clinician found an ileal mass with necrotic change and the mass increased in size from 1.7 cm to 2.2 cm during the past 2 years on computed tomography. It was surgically resected. Microscopically, the ileal mass showed heterotopic pancreas with IPMN high grade dysplasia. Immunohistochemical staining revealed positive reactivity for MLH1/PMS2 and negative reactivity for MSH2/MSH6. This is the first report of IPMN originating from the ileal heterotopic pancreas in a patient with HNPCC in the English literature.
文摘Bleeding from renal angiomyolipoma in pregnancy can be catastrophic to both mother and fetus. Selective arterial embolisation is considered more superior than conventional surgery in these patients. Our case report exemplifies how a bleeding angiomyolipoma was halted with embolisation in our pregnant patient.
文摘Hairy polyp is an unusual, rare benign developmental malformation of neonates and infants. Embryologically, they are benign lesions containing of both ectodermal and mesodermal origin. Based on size, location of the lesion, they can produce symptoms such as feeding difficulties, airway obstructions, apneic episodes. We present a case of hairy polyp at Oro/Nasopharynx causing feeding difficulties immediately after birth. We explained the mode of presentation, imaging studies, treatment, and review of literature of congenital hairy polyp/choristoma.
文摘目的探讨神经肌肉迷芽瘤相关的韧带样型纤维瘤病(neuromuscular choristoma-associated desmoid type fibromatosis,NMC-DF)临床病理及分子遗传学特征。方法收集北京积水潭医院2013年1月至2023年1月明确诊断为NMC-DF的病例7例,对其临床、组织形态及免疫组织化学特点进行回顾性分析,采用Sanger测序法对4例患者的神经肌肉迷芽瘤(neuromuscular choristoma,NMC)及韧带样型纤维瘤病(desmoid type fibromatosis,DF)标本分别进行检测,明确CTNNB1基因的突变类型。结果7例患者中女性3例,男性4例,年龄1~22岁,平均年龄7.1岁。病程3个月到10年不等。2例为复发后就诊病例。肿瘤位于大腿3例,小腿1例,上臂1例,颈部1例,影像学提示7例肿瘤均有相应部位神经增粗,4例为坐骨神经,1例为坐骨神经、胫神经、腓总神经全程瘤样增粗,2例为臂从神经,肿瘤与病变神经关系密切。7例病变的神经束内可见骨骼肌纤维,残存的神经纤维穿插其中,呈神经肌肉迷芽瘤的结构;肿瘤均具有典型的韧带样型纤维瘤病结构。免疫组织化学,NMC中部分肌纤维细胞核表达β-catenin(7/7),肌纤维结蛋白弥漫阳性,神经纤维神经丝蛋白和S-100蛋白阳性(7/7);NMC-DF中β-catenin在肿瘤细胞核中呈散在阳性(7/7)。CTNNB1基因Sanger测序,3例c.121A>G(p.T41A)突变,1例c.134C>T(p.S45F)突变。7例获得随访资料,随访时间22~78个月,2例为复发后就诊,其中1例截肢后再次复发,其余无进展。结论NMC是一种罕见的神经发育畸形性病变,神经干内可见异位的骨骼肌纤维,约80%的病例在病变神经周围软组织内伴发DF,组织形态与经典的DF相同,Wnt信号通路中的CTNNB1基因突变与二者的发生发展密切相关,CTNNB1 c.134C>T(p.S45F)突变可能提示不良预后。
