cylindroma

圆柱瘤
  • 文章类型: Case Reports
    在这里,我们报道了一位38岁的健康女士的不寻常表现,她的左前臂远端掌侧有一个无痛的缓慢生长的病变,到达鱼际区域超过15年。病变的磁共振成像显示,在T1和T2加权图像中,多小叶软组织肿块具有低信号和高信号,并具有均匀的对比增强。此外,在第一掌骨中发现稳定的色素性骨性病变,显示低T1和高T2信号,并伴有外周增强。组织病理学检查与圆柱瘤和内生软骨瘤一致,分别。患者在1年的随访中完全康复,没有复发。内生软骨瘤是手部最常见的良性肿瘤,散发性真皮圆柱瘤,相比之下,很少影响上肢。以前没有报道过这两种病理实体的共存,这可能会使诊断复杂化。
    Herein, we report an unusual presentation of a 38-year-old heathy lady with a painless slowly growing lesion in the volar aspect of her left distal forearm reaching the thenar area for >15 years. Magnetic resonance imaging of the lesion showed multilobulated soft tissue mass with low and high signal in T1- and T2-weighted images with homogenous contrast enhancement. Additionally, a stable serpiginous bony lesion was noted in the first metacarpal bone showing low T1 and high T2 signals with peripheral enhancement. Histopathological examination was consistent with cylindroma and enchondroma, respectively. The patient had full recovery with no recurrence at a 1-year follow-up visit. While enchondroma is the most common benign tumor of the hand, sporadic dermal cylindroma, in contrast, rarely affects the upper extremity. The coexistence of these two pathological entities was not previously reported and it may complicate the diagnosis.
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  • 文章类型: Case Reports
    螺旋腺泡瘤是皮肤附件起源的良性肿瘤,具有两种不同肿瘤的重叠特征:螺旋腺瘤和圆柱瘤。这种皮肤肿瘤通常出现在头颈部,皮外表现并不常见。以下描述的表现涉及成熟卵巢畸胎瘤中的螺旋腺苷酸瘤非常罕见。
    本文的目的是描述这种不寻常的螺旋腺泡瘤表现的诊断过程。
    一名65岁女性左附件包块,接受了超声和磁共振成像(MRI)检查,显示左卵巢多间隔病变,壁膜钙化和肿块突出。进行了切除手术,组织病理学检查发现螺旋腺泡瘤。
    螺旋腺瘤很少见,很难辨认,经常被误诊。我们的研究描述了诊断过程,并描述了在成熟的畸胎瘤中出现的这种病变的罕见表现。
    UNASSIGNED: Spiradenocylindroma is a benign tumor of skin adnexal origin with overlapping features of two distinct neoplasms: spiradenoma and cylindroma. This cutaneous tumor typically presents on the head and neck and extracutaneous presentations are uncommon. The presentation described below involves a spiradenocylindroma within a mature ovarian teratoma is very rare.
    UNASSIGNED: The aim of this article is to portray the diagnostic process of this unusual spiradenocylindroma presentation.
    UNASSIGNED: A 65 year-old female with a left adnexal mass underwent ultrasonography and magnetic resonance imaging (MRI) which showed a left ovarian multiseptated lesion, with mural calcifications and projections into the mass. Excisional surgery was performed and histopathological examination revealed a spiradenocylindroma.
    UNASSIGNED: Spiradenocylindroma is rare, hard to identify, and often misdiagnosed. Our study described the process of diagnosis and depicts the rare presentation of this lesion arising within a mature teratoma.
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  • 文章类型: Journal Article
    导管或小叶病理的乳腺癌构成了绝大多数乳腺恶性肿瘤。其他癌症很少发生在乳腺中。良性病理学有时可以在成像和初始针活检时模拟乳腺癌。我们报告了一种罕见的圆柱形乳腺病理学。圆柱通常是良性的,最常见于头颈部的罕见皮肤病。它们更常见于零星和孤立的肿块。较不常见的是这种疾病的常染色体显性多中心形式。恶性圆柱瘤非常罕见。我们为患者提供了切除后乳腺圆柱瘤的发现。最初认为这与乳腺癌的影像学和核心活检有关。乳房圆柱瘤的治疗是切除。前哨淋巴结清扫术未显示,在乳房中发现辅助疗法也不是。该病变需要包括在乳腺癌的鉴别诊断中。如果术前可以准确诊断圆柱瘤,这就不需要考虑腋窝淋巴结手术和辅助治疗.
    Breast cancers of either ductal or lobular pathology make up the vast majority of breast malignancies. Other cancers occur rarely in the breast. Benign pathology can at times mimic breast cancers on imaging and initial needle biopsies. We report a rare breast pathology of cylindroma. Cylindromas are usually benign, rare dermatologic lesions most commonly associated with head or neck locations. They more commonly occur as sporadic and solitary masses. Less commonly is an autosomal-dominant multi-centric form of this disease. Malignant cylindromas are very rare. We present a patient with findings of a cylindroma of the breast after excision. This was initially felt to be concerning for breast cancer on imaging and core biopsy. Treatment of cylindromas of the breast is excision. Sentinel lymph node dissection is not indicated, nor are adjuvant therapies when identified in the breast. This lesion needs to be included in the differential diagnosis for breast cancer. If cylindromas can be accurately diagnosed preoperatively, this would negate the need for consideration of axillary nodal surgery and adjuvant therapies.
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  • 文章类型: Journal Article
    报告目的:Brooke-Spiegler综合征(BSS)是一种罕见的常染色体显性疾病,其特征是圆柱瘤的生长,螺旋腺瘤,毛发上皮瘤,或他们的组合。这些肿瘤通常在第二个十年开始,并且随着时间的推移,数量和大小逐渐增加。诊断需要考虑家族史,临床检查,组织学发现,和遗传分析。本文旨在探讨Brooke-Spiegler综合征(BSS)和1型神经纤维瘤病(NF1)之间的临床重叠。我们旨在强调与鉴别诊断相关的挑战,并强调缺乏标准化的诊断标准和治疗方法。案例介绍:特此,我们介绍了一例因怀疑1型神经纤维瘤病(NF1)而转诊的28岁男性,他最初拒绝推荐的头皮肿块手术切除.四年后,他带着更大的头皮回来,切除了多个肿块,露出的圆柱瘤,螺旋腺瘤,和螺旋腺细胞瘤。家族史报告他父亲有类似的肿瘤,他还因头皮上存在多个皮下病变而被诊断为NF1。临床重叠导致遗传咨询,但检测CYLD突变并无显著变异.尽管如此,强烈的家族史和一致的发现导致了布鲁克-斯皮格勒综合征的修订诊断,纠正NF1综合征的初步误诊。结论:由于过去二十年来BSS研究的不断发展,它的分子基础,临床表现,组织病理学特征现在更清晰了。然而,当怀疑有BSS时,必须进行全面的家族史评估.我们认为,在处理BSS时,多学科方法和专家之间的合作至关重要。通过分享这个案例,我们希望强调将BSS视为鉴别诊断的重要性,特别是在非典型表现或与NF1等其他综合征重叠的情况下。
    Aim of the report: Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the growth of cylindromas, spiradenomas, trichoepitheliomas, or their combination. These neoplasms usually begin in the second decade and progressively increase in number and size over the years. Diagnosis necessitates consideration of family history, clinical examination, histological findings, and genetic analysis. The aim of this paper is to explore the clinical overlap between Brooke-Spiegler syndrome (BSS) and neurofibromatosis type 1 (NF1). We aim to highlight the challenges associated with their differential diagnosis and emphasize the lack of standardized diagnostic criteria and treatment approaches. Case presentation: Hereby, we introduce the case of a 28-year-old male referred for suspicion of neurofibromatosis type 1 (NF1) who initially declined the recommended surgical excision for a scalp mass. After four years, he returned with larger masses of the scalp, and underwent excision of multiple masses, revealing cylindromas, spiradenomas, and spiradenocylindromas. Family history reported similar tumors in his father, who was also diagnosed with NF1 for the presence of multiple subcutaneous lesions on the scalp. Clinical overlap led to a genetic consultation, but testing for CYLD mutations yielded no significant variations. Despite this, the strong family history and consistent findings led to a revised diagnosis of Brooke-Spiegler syndrome, correcting the initial misdiagnosis of NF1 syndrome. Conclusions: Thanks to the evolving landscape of BSS research over the past two decades, its molecular underpinnings, clinical presentation, and histopathological features are now clearer. However, a thorough family history assessment is mandatory when BSS is suspected. It is our belief that a multidisciplinary approach and cooperation between specialists are essential when dealing with BSS. By sharing this case, we hope to underscore the importance of considering BSS as a differential diagnosis, especially in cases with atypical presentations or overlapping features with other syndromes like NF1.
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  • 文章类型: Journal Article
    目的:本研究旨在分析单级立体定向放射外科(SRS)对腺样囊性癌患者的治疗效果。
    方法:回顾性分析55例66个病灶。SRS意图被归类为确定的,佐剂,打捞,和姑息。肿瘤对照定义为局部(在50%等剂量线内),边缘(50%等剂量线之外),和远处(头/颈部外转移)。
    结果:中位年龄为60岁(范围21-85),53%的男性。肿瘤来源为头部/颈部占88%,气管/肺占12%。61%为复发病灶。从诊断到SRS的中位间隔为14个月。30%的患者进行了前手术。SRS作为确定性(30个病变),佐剂(13),打捞(19),姑息治疗(4)。在39%中使用SRS作为外部束放射治疗(EBRT)的增强。同时化疗的比例为26%。5-,10-,15年的地方控制率为60%,33%,27%,局部/边际控制率分别为29%,13%,和10%。对于使用SRS治疗而不使用EBRT的复发性病变,5年局部控制率为14%,局部/边际控制率为5%。对于使用SRS和EBRT治疗的复发性病变,5年局部控制率为100%,局部/边际控制率为40%。SRS后的远处失败率为40%。SRS前的年龄和远处转移是总体生存的负面因素。
    结论:SRS提供了较高的局部肿瘤控制率,但是边际失败很频繁。将SRS与增加的EBRT整合具有增强局部和局部/边缘肿瘤控制的潜力。特别是在复发病例中。
    OBJECTIVE: This study aimed to analyze the treatment outcomes of single-fraction stereotactic radiosurgery (SRS) for adenoid cystic carcinoma patients.
    METHODS: Retrospective analysis was conducted for 55 patients with 66 lesions. SRS intentions were categorized as definitive, adjuvant, salvage, and palliative. Tumor control was defined as local (within 50% isodose line), marginal (outside 50% isodose line), and distant (metastasis outside head/neck).
    RESULTS: The median age was 60 years (range 21-85), with 53% males. Tumor origin was head/neck for 88% and trachea/lung for 12%. 61% were recurrent lesions. Median interval from diagnosis to SRS was 14 months. Preceding surgery was performed in 30%. SRS was administered as definitive (30 lesions), adjuvant (13), salvage (19), and palliative (4). SRS was used as a boost to external beam radiation therapy (EBRT) in 39%. Concurrent chemotherapy was administered in 26%. 5-, 10-, and 15-year local control rates were 60%, 33%, and 27%, respectively; local/marginal control rates were 29%, 13%, and 10%. For recurrent lesions treated with SRS without EBRT, 5-year local control rate was 14%, and local/marginal control rate was 5%. For recurrent lesions treated with SRS and EBRT, 5-year local control rate was 100%, and local/marginal control rate was 40%. The rate of distant failure after SRS was 40%. Older age and distant metastasis before SRS were negative factors for overall survival.
    CONCLUSIONS: SRS provided a high rate of local tumor control, but marginal failure was frequent. Integrating SRS with added EBRT exhibits potential for enhancing local and local/marginal tumor control, particularly in recurrent cases.
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  • 文章类型: Case Reports
    多发性毛发上皮瘤综合征是一种罕见的实体,对其流行病学特征知之甚少。患者通常表现为多个非可疑皮肤病变。手术切除是治疗的主要手段,诊断通常在第一次病理报告后进行。一旦诊断确定,病人接受临床监测,如果肿瘤负荷和/或大小证明是合理的,则再次进行手术。作者介绍了一名男性患者,该患者36年来首次到我们的门诊就诊,没有任何相关病史,药物,或过敏。患者抱怨多个皮肤病变遍布头部和颈部。进行了受影响区域的手术切除和使用局部前移皮瓣进行表面修复。病理报告始终与毛发上皮瘤一致。从未报告过螺旋腺瘤或圆柱瘤的病理。通常,肿瘤足够小,可以进行简单的切除和原发性闭合。然而,在提出的情况下,肿瘤的大小和中央面部美学单元的参与需要更复杂的方法。
    Multiple trichoepithelioma syndrome is a rare entity, and little is known about its epidemiological features. Patients usually present with multiple nonsuspicious skin lesions. Surgical excision is the mainstay of treatment, and diagnosis is usually made after the first pathology report. Once the diagnosis is established, patients are kept under clinical surveillance, and surgery is performed again if tumor burden and/or size justifies it. The authors present a male patient who presented to our outpatient clinic for the first time in 36 years without any relevant medical history, medication, or allergies. The patient had complaints of multiple skin lesions spreading across the head and neck regions. Surgical excision of the affected area and resurfacing using local advancement flaps were performed. Pathology reports were always consistent with trichoepitheliomas. No pathology of spiradenoma or cylindroma was ever reported. Usually, tumors are small enough for simple excision and primary closure. However, in the presented case, the size of the tumor and the involvement of central facial aesthetic units demanded a more complex approach.
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  • 文章类型: Review
    背景:乳腺圆柱瘤是一种罕见的良性肿瘤。自2001年首次描述以来,文献中已报道了20例。
    结果:我们报告了另一例60岁女性的这种罕见肿瘤,并显示了潜在的分子改变。组织学上,肿瘤表现出典型的“拼图”模式,具有三阴性表型的双重细胞群。通过全外显子组测序检测CYLD基因突变的致病基因突变。圆柱瘤显示与腺样囊性癌的实性基底样变体的形态重叠,这使得鉴别诊断变得困难。然而,区分这两个病变是最重要的,自从圆柱瘤以来,与腺样囊性癌的实性基底细胞样变体相反,表现得完全良性。
    结论:仔细评估有丝分裂图和细胞异型性等形态学特征对于三阴性乳腺病变的诊断检查至关重要。重要的是要记住圆柱瘤作为腺样囊性癌的固体-基底样变体的陷阱和可能的鉴别诊断。CYLD基因突变的分子检测有助于组织学模糊的病例。有了这个病例报告,我们的目标是有助于更好地了解乳腺圆柱瘤,并促进这种罕见实体的诊断。
    BACKGROUND: Cylindroma of the breast is a rare benign neoplasm. Since its first description in 2001, 20 cases have been reported in the literature.
    RESULTS: We report another case of this rare tumor in a 60-year-old woman with demonstration of the underlying molecular alteration. Histologically, the tumor showed the typical \"jigsaw\" pattern of a dual population of cells with a triple-negative phenotype. The pathognomonic mutation of the CYLD gene mutation was detected by whole exome sequencing. Cylindromas show morphological overlap with the solid-basaloid variant of adenoid cystic carcinoma, which renders this differential diagnosis difficult. However, distinction of these two lesions is of outmost importance, since cylindromas, in contrast to solid-basaloid variant of adenoid cystic carcinoma, behave in an entirely benign fashion.
    CONCLUSIONS: Careful evaluation of morphological features such as mitotic figures and cellular atypia is crucial in the diagnostic work-up of triple-negative breast lesions. It is important to keep cylindroma in mind as a pitfall and possible differential diagnosis for the solid-basaloid variant of adenoid cystic carcinoma. Molecular detection of CYLD gene mutation is helpful in cases with ambiguous histology. With this case report, we aim to contribute to a better understanding of mammary cylindroma and facilitate the diagnosis of this rare entity.
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  • 文章类型: Review
    乳腺的原发性圆柱瘤极为罕见。据我们所知,据报道只有18个肿瘤。它们都是良性的,没有有丝分裂。然而,该实体的稀有性使术前的正确诊断非常困难。在这里,我们提出了一个独特的圆柱形瘤,在一个80岁的女性中,具有局灶性有丝分裂,最大直径为5cm,活检误诊为腺样囊性癌,行乳腺癌根治术.我们回顾了相关文献并强调了鉴别诊断。
    Primary cylindroma of the breast is extremely rare. To the best of our knowledge, there have been only 18 tumors reported. All of them were benign and had no mitosis. However, the rarity of this entity made the correct diagnosis preoperatively very difficult. Here we present a unique cylindroma with focal brisk mitosis and largest diameter of 5cm in an 80-year woman, she was misdiagnosed as adenoid cystic carcinoma in biopsy and then underwent a radical breast resection. We reviewed the related literature and emphasized differential diagnosis.
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  • 文章类型: Case Reports
    Breast adenoid cystic carcinoma (BACC) is a rarely encountered malignant breast neoplasm with a favourable outcome, despite its triple-negative receptor status. It is comprising less than 0.1% of all breast cancers. The more usual primary site of the adenoid cystic carcinoma is seen in the salivary glands, however BACC prognosis is better than the one for salivary gland and also than that of other breast invasive carcinoma. BACC also known to have fewer lymph node metastases as well as fewer distant metastases, hereby we present 73 years old female with previous history of breast ductal carcinoma in-situ, then developed contralateral breast adenoid cystic carcinoma.
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  • 文章类型: Case Reports
    A 70-year-old female presented with a swelling in the right auricle for 6 months. Rapid onsite stain and routine cytology revealed clusters of small, round to oval cells with hyperchromatic nuclei, inconspicuous nucleoli, and scant cytoplasm. The background had basement membrane type material and appeared dark magenta colored pinkish globular material. Hence a cytological diagnosis of skin adnexal tumor possibly cylindroma was made. The excision of the lesion also showed features of cylindroma. Rapid onsite staining and cytology of subcutaneous location of the tumor in the absence of primary salivary gland tumors may help to diagnose such rare cases.
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