Hamartoma

错构瘤
  • 文章类型: Journal Article
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  • 文章类型: Case Reports
    鼻子是许多皮肤病甚至皮肤癌的常见部位。在这里,我们报告了一个老人,他的鼻子上出现了丘疹性病变。在过去的两年中,一名64岁的男子的鼻子上出现了四到五个肤色的丘疹,这些丘疹的大小逐渐增加。在过去的10年中,他还患有鼻病。进行常规调查和组织病理学检查。活检时,发现是脂斑痣皮肤浅表,一种罕见的,良性错构瘤异常主要出现在身体的下部,如臀部,因此在这种情况下通常不被认为是差异。必须了解这种罕见的实体及其非典型特征,以将其视为鼻子上此类病变的鉴别诊断。
    The nose is a common site for many dermatological disorders and even skin cancers. Herein, we report a case of an elderly man who presented with papular lesions on his nose. A 64-year-old man presented with a cluster of four to five skin-colored papules on his nose for the last two years which were gradually increasing in size. He also had rhinophyma for the past 10 years. Routine investigations and histopathological examination were performed. On biopsy, it was revealed to be nevus lipomatosus cutaneous superficialis, a rare, benign hamartomatous anomaly found mostly in lower parts of the body like the buttocks and hence not usually considered a differential in such cases. It is essential to know about this rare entity as well as its atypical features to consider it as a differential diagnosis for such lesions on the nose.
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  • 文章类型: Case Reports
    背景:肺错构瘤是肺部良性病变。组织病理学,肺错构瘤由不同数量的间充质成分组成,包括软骨组织,成熟脂肪组织,纤维基质,平滑肌,并截留了呼吸道上皮。大多数肺错构瘤病例无症状,在成像过程中偶然发现。它们通常表现为界限清楚的病变,最大尺寸小于4厘米。超过8厘米的无症状巨大肺错构瘤很少见。
    方法:在当前的病例报告中,在心脏病检查中,偶然发现一名59岁女性的肺部肿块为12.0×9.5×7.5厘米。严重的,病变呈小叶状,白色至棕白色固体切面和小的囊性区域。微观上,有代表性的肿瘤切片显示软骨粘液样外观,周围有相对低细胞的基质和包裹的呼吸上皮。没有注意到显著的非典型性。没有注意到有丝分裂,根据Ki-67免疫组织化学,增殖指数非常低(<1%)。成熟的脂肪组织在许多领域很容易识别。组织形态学与肺错构瘤一致。将肉瘤靶向的基因融合组进一步应用于这种情况。在这种情况下,显微镜检查和肉瘤靶向基因融合组结果的联合评估排除了恶性肉瘤转化。纵隔和肺门淋巴结在组织学上是良性的。手术后,患者术后度过了一个平稳的时期.
    结论:巨大的肺错构瘤是罕见的;我们的病例是无症状患者的巨大错构瘤的一个例子。这个肿瘤的大小令人担忧。因此,为了正确诊断和排除共存的恶性肿瘤,需要对病变进行仔细和全面的检查。
    BACKGROUND: Pulmonary hamartomas are benign lung lesions. Histopathologically, pulmonary hamartoma is composed of varying amounts of mesenchymal elements, including chondroid tissue, mature adipose tissue, fibrous stroma, smooth muscle, and entrapped respiratory epithelium. Most pulmonary hamartoma cases are asymptomatic and found incidentally during imaging. They usually appear as well-circumscribed lesions with the largest dimension of less than 4 cm. Asymptomatic giant pulmonary hamartomas that more than 8 cm are rare.
    METHODS: In the current case report, a 12.0 × 9.5 × 7.5 cm lung mass was incidentally noticed in a 59-year-old female during a heart disease workup. Grossly, the lesion was lobulated with pearly white to tan-white solid cut surface and small cystic areas. Microscopically, representative tumor sections demonstrate a chondromyxoid appearance with relatively hypocellular stroma and entrapped respiratory epithelium at the periphery. No significant atypia is noted. No mitosis is noted, and the proliferative index is very low (< 1%) per Ki-67 immunohistochemistry. Mature adipose tissue is easily identifiable in many areas. Histomorphology is consistent with pulmonary hamartoma. A sarcoma-targeted gene fusion panel was further applied to this case. Combined evaluation of microscopic examination and sarcoma-targeted gene fusion panel results excluded malignant sarcomatous transformation in this case. The mediastinal and hilar lymph nodes are histologically benign. After surgery, the patient had an uneventful postoperative period.
    CONCLUSIONS: Giant pulmonary hamartoma is rare; our case is an example of a huge hamartoma in an asymptomatic patient. The size of this tumor is concerning. Thus, careful and comprehensive examination of the lesion is required for the correct diagnosis and to rule out co-existent malignancy.
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  • 文章类型: Journal Article
    软骨骨性呼吸道腺瘤样错构瘤(COREAH)是极其罕见的鼻窦道良性病变。它存在于3至83岁的人群中。它起源于鼻窦道的各个部位;最常见的部位是鼻腔的后侧壁。成像钙化是COREAH的重要发现。在这个案例报告中,我们提出了一个非常罕见的事件,涉及一名55岁的女性患者,表现出鼻塞的症状,左侧鼻腔出血和嗅觉丧失。我们的目标是分享我们在管理这一独特条件方面的经验。诊断性鼻内镜检查显示患者呈红色,左鼻腔中的肉质息肉状块从左鼻腔的侧壁向后产生,并向前延伸到左鼻腔。患者接受了切除活检。经显微镜检查,我们观察到呼吸道型腺体的错构瘤增生,表现为黏液化生。此外,存在许多成熟的骨针,COREAH的一个显著特征。患者接受了6个月的随访,在此期间,在鼻腔内未检测到复发性生长。
    Chondro-osseous respiratory adenomatoid hamartoma (COREAH) are extremely rare benign lesions of the sinonasal tract. It is present in 3 to 83-year-olds. It originates from various sites of the sinonasal tract; the most common site is the posterior lateral wall of the nasal cavity. Imaging calcification is an important finding in COREAH. In this case report, we present an exceptionally rare occurrence involving a 55-year-old female patient who exhibited symptoms of nasal obstruction, bleeding from the left side of the nasal cavity and loss of smell. We aim to share our experience in managing this unique condition. Diagnostic nasal endoscopic examination of the patient revealed a reddish, fleshy polypoidal mass in the left nasal cavity arising from the lateral wall of the left nasal cavity posteriorly and extending anteriorly into the left nasal cavity. The patient underwent an excisional biopsy. Upon microscopic examination, we observed a hamartomatous proliferation of respiratory-type glands exhibiting mucinous metaplasia. Additionally, numerous spicules of mature bone were present, a distinctive feature of COREAH. The patient underwent a 6-month follow-up, during which no recurrent growth was detected within the nasal cavity.
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  • 文章类型: Case Reports
    大多数肺支气管病变起源于恶性。在极少数情况下,良性病变如支气管内错构瘤可能是支气管内树阻塞的原因。我们介绍了一名来自北非的57岁男性患者,他有5个月的咳嗽史。成像,特殊CT扫描,在右侧中间支气管上显示肿块,其放射学特征与错构瘤一致。通过支气管镜检查获得的肿块活检显示慢性炎症,没有恶性肿瘤的证据。病人接受了手术治疗,解剖病理学证实了错构瘤的诊断。
    Most of the pulmonary endobronchial lesions are malignant in origin. In rare instances, benign lesions such as endobronchial hamartoma may be the cause of the endobronchial tree obstruction. We present the case of a 57-year-old male patient from North Africa who presents with a history of a 5-month cough. Imaging, particulary CT scan, showed a mass on the right intermediate bronchus whose radiological characteristics are consistent with hamartoma. A biopsy of the mass obtained via bronchoscopy revealed chronic inflammation with no evidence for malignancy. The patient was treated surgically, and anatomopathology confirmed the diagnosis of hamartoma.
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  • 文章类型: Journal Article
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  • 文章类型: Case Reports
    背景:炎性横纹肌母细胞肿瘤是相对较新认识的恶性潜能较低的软组织肿瘤。这里,我们介绍了一例并发炎性横纹肌母细胞瘤(IRMT),肾上腺嗜铬细胞瘤,1型神经纤维瘤病(NF1)患者的肺错构瘤。据我们所知,这是第一次在文献中描述这种肿瘤。
    方法:一名已知NF1的20多岁女性患者被诊断患有炎性横纹肌母细胞瘤,嗜铬细胞瘤,和肺错构瘤在短时间内发生。发现IRMT具有近单倍体基因组,并显示出典型的免疫组织化学特征以及局灶性异常p53表达模式。
    结论:该病例报告加强了以下理论:肿瘤抑制因子NF1的缺陷在炎性横纹肌母细胞肿瘤的发病机制中起着核心作用,IRMT可能是1型神经纤维瘤病相关肿瘤的一部分。
    BACKGROUND: Inflammatory rhabdomyoblastic tumors are relatively recently recognized soft tissue tumors with a low malignant potential. Here, we present a case of concurrent inflammatory rhabdomyoblastic tumor (IRMT), adrenal pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1 (NF1). To our knowledge, this is the first time that this constellation of tumors has been described in the literature.
    METHODS: A female patient in her late 20s with known NF1 was diagnosed with an inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a short succession. IRMT was found to harbor a near-haploid genome and displayed a typical immunohistochemical profile as well as a focal aberrant p53 expression pattern.
    CONCLUSIONS: This case report strengthens the theory that defects in the tumor suppressor NF1 play a central role in the pathogenesis of inflammatory rhabdomyoblastic tumors and that IRMT may be part of the spectrum of neurofibromatosis type 1 related tumors.
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  • 文章类型: Journal Article
    在下丘脑错构瘤引起的癫痫发作患者中,实现良好的癫痫发作结果具有挑战性。尽管使用微创和非侵入性外科手术来治疗该人群,这些程序有局限性。因此,我们分析了下丘脑错构瘤患者直接切除后的结局.我们纳入了159例下丘脑错构瘤患者,这些患者在2011年至2018年间接受了经call骨突间入路直接切除术。分析临床参数与癫痫发作结果之间的关系。总的来说,55.3%实现了总切除,25.2%进行了几乎全部切除。在所有患者中,79.2%的人在一年内总体上没有癫痫发作,但是这个数字在五年多的时间里下降到了77.0%。此外,88.4%(129/146)在一年内达到无弹性癫痫(GS)状态,在五年以上时这一数字增加到89.0%(97/109)。71例患者长期服用抗癫痫药物(ASM),68把它花了一年,11把它拿了半年。ASM消耗的持续时间(p<0.001)和下丘脑错构瘤切除的程度(p=0.016)是长期无癫痫发作总生存期的重要独立预测因素,而ASM消耗的持续时间(p=0.011)和下丘脑错构瘤切除的程度(p=0.026)是长期无GS生存的显著独立预测因子。大多数患者的行为,学校表现,手术后智力没有受到影响。对于下丘脑错构瘤患者,直接切除是有效且安全的策略。下丘脑错构瘤应尽可能完全切除,患者应在手术后长期服用ASM,以达到长期总体无癫痫发作或无GS状态。
    Achieving favorable seizure outcomes is challenging in patients with seizures resulting from hypothalamic hamartoma. Although minimally invasive and non-invasive surgical procedures are used to treat this population, these procedures have limitations. Therefore, we analyzed the outcomes of patients with hypothalamic hamartoma following direct resection. We included 159 patients with hypothalamic hamartoma who underwent direct resection using the transcallosal interforniceal approach between 2011 and 2018. The relationships between clinical parameters and seizure outcomes were analyzed. In total, 55.3% achieved gross total resection and 25.2% underwent near-total resection. Of all patients, 79.2% were overall seizure-free at one year, but this number dropped to 77.0% at more than five years. Moreover, 88.4% (129/146) reached gelastic seizure (GS)-free status at one year and this number increased to 89.0% (97/109) at more than five years. Seventy-one patients took antiseizure medication (ASM) long-term, 68 took it for one year, and 11 took it for one-half year. The duration of ASM consumption (p < 0.001) and extent of hypothalamic hamartoma resection (p = 0.016) were significant independent predictors of long-term overall seizure-free survival, while the duration of ASM consumption (p = 0.011) and extent of hypothalamic hamartoma resection (p = 0.026) were significant independent predictors of long-term GS-free survival. Most patients\' behavior, school performance, and intelligence were not affected after surgery. Direct resection is effective and safe strategy for patients with hypothalamic hamartomas. Hypothalamic hamartomas should be removed as completely as possible, and patients should take ASM long-term following surgery to reach long-term overall seizure-free or GS-free status.
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  • 文章类型: Case Reports
    一名流产的母马驹提交尸检。在粗略检查期间,卵巢苍白,灰色,并扩大(6×5厘米),外表面周围有发育良好的血管结构;卵巢的切面呈褐色薄壁组织,白色卵泡区域主要位于外围区域。固定卵巢以进行组织学检查。卵巢的组织学评估显示,具有丰富的细胞质和圆形或椭圆形细胞核的多边形形状的细胞,排列在单细胞的绳索中。组织结构的特征在于存在具有中央静脉的小叶样组织。模仿肝细胞的组织由成熟的纤维组织界定,并被正常的卵巢组织包围,其特征是生发上皮和原始卵泡结构。根据组织学发现,最初进行了双侧卵巢错构瘤的诊断。为了更好地表征卵巢组织,使用免疫组织化学研究组织特异性(肝脏和卵巢)标志物的表达.在免疫组织化学分析之后,错构瘤诊断被排除.卵巢表现出与成年马卵巢不同的独特特征,以及与其他哺乳动物不同的独特形态特征。此病例报告增强了我们对妊娠后期卵巢的了解,并揭示了马卵巢发育的独特特征,避免误诊与病理结果,错构瘤,或者瘤形成。
    An aborted female foal was submitted for necropsy. During the gross examination, the ovaries were pale, grayish, and enlarged (6 × 5 cm), with a well-developed vascular structure surrounding the external surface; the cut surface of the ovaries showed a brownish parenchyma with white follicular areas mainly localized in the peripheral region. The ovaries were fixed for histological investigations. The histological evaluation of the ovaries showed polygonal-shaped cells with abundant cytoplasm and round or oval nuclei, arranged in cords of single cells. The tissue architecture was characterized by the presence of lobular-like tissues with a central vein. The tissue mimicking hepatocytes was delimited by a mature fibrous tissue and was surrounded by the normal ovarian tissue characterized by germinal epithelium and primordial follicular structures. Based on the histological findings, a diagnosis of bilateral ovarian hamartoma was carried out initially. For a better characterization of the ovarian tissue, the expression of tissue-specific (liver and ovary) markers was investigated using immunohistochemistry. Following the immunohistochemical analysis, the hamartoma diagnosis was excluded. The ovaries exhibited unique characteristics different from those of adult horse ovaries as well as unique morphological features different from other mammalian species. This case report enhances our understanding of ovaries at a later stage of pregnancy and unveils unique characteristics of horse ovaries development, avoiding misdiagnosis with pathological findings, hamartomas, or neoplasia.
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  • 文章类型: Journal Article
    目的:本研究旨在探讨鼻窦浆膜黏液性错构瘤(SHs)的临床和组织病理学特征。
    方法:纳入了2005年11月至2023年9月在三级医院接受治疗的8例鼻窦SH患者。此外,对已发表的文章进行了系统的审查,对文献中描述的48例SH进行分析。
    结果:在我们机构接受治疗的8名患者中,4例患者的肿瘤起源于后鼻腔,而中鼻甲和中鼻道是各2例患者的主要起源。在4例中观察到炎性鼻息肉(NPs)的共存。组织病理学,4例患者表现局灶性呼吸道上皮腺瘤样错构瘤(REAH)特征,在一名患者中发现了低度发育不良。与先前文献的综合分析显示,所有病例中有46.3%起源于前鼻腔。伴有NPs和具有局灶性REAH特征的病例比例分别为20.5%和39.1%,分别。此外,表现出发育不良特征(5.4%)和复发(2.1%)的病例频率较低。值得注意的是,源自前部区域的肿瘤往往比源自后部区域的肿瘤具有更高的发育不良频率,尽管这种差异没有统计学意义(p=0.0996)。
    结论:鼻窦SH患者在手术切除后显示出良好的治疗效果。经常观察到局灶性REAH特征和伴随的NP。很大一部分病例起源于前鼻腔,这些肿瘤可能表现出高度的发育不良倾向。
    OBJECTIVE: This study aimed to investigate the clinical and histopathological characteristics of sinonasal seromucinous hamartomas (SHs).
    METHODS: Eight patients with sinonasal SH and treated at a tertiary hospital between November 2005 and September 2023 were included. Additionally, a systematic review of published articles was conducted, analyzing 48 cases of SH described in the literature.
    RESULTS: Among the eight patients treated at our institution, tumors originated from the posterior nasal cavity in four patients and middle turbinate and middle meatus were the primary origin in two patients each. Coexistence of inflammatory nasal polyps (NPs) was observed in four cases. Histopathologically, four patients exhibited focal respiratory epithelial adenomatoid hamartoma (REAH) features, and low-grade dysplasia was found in one patient. A combined analysis with previous literature revealed that 46.3% of all cases originated in the anterior nasal cavity. The proportions of cases accompanied by NPs and those with focal REAH features were 20.5% and 39.1%, respectively. Additionally, the frequencies of cases exhibiting dysplastic features (5.4%) and recurrence (2.1%) were low. Remarkably, tumors originating from the anterior region tended to have a higher frequency of dysplasia than those originating from the posterior region, although this difference was not statistically significant (p = 0.0996).
    CONCLUSIONS: Patients with sinonasal SH showed favorable treatment outcomes following surgical resection. Focal REAH features and accompanying NPs were frequently observed. A substantial proportion of cases originate in the anterior nasal cavity, and these tumors may exhibit a high tendency for dysplasia.
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