Poroma

孔瘤
  • 文章类型: Journal Article
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    一个50多岁的女人,一名患有转移性右乳腺癌的患者,晚期乳房切除术和激素治疗的放化疗,表现为颈部和躯干无症状的红色病变。皮肤检查显示三个离散的带蒂,非招标,颈部表面光滑的坚硬红斑生长,胸部和腹部。组织病理学检查是根据化脓性肉芽肿的差异进行的,血管瘤,巨大的肢端和血管转移,揭示内分泌孔瘤(EP)的诊断。其余病灶通过电灼术切除,随访1年,无复发。EP是一种罕见的良性肿瘤,通常由单发,无柄或有花序的无症状丘疹或结节在手掌和脚底。在这里,我们报告了在接受放化疗的患者中,在非肢端部位罕见的多个带束EP的发生。临床上模仿化脓性肉芽肿和血管转移。因此,强调将EP视为具有血管形态的病变差异的重要性。
    A woman in her mid-50s, a patient with metastatic right breast carcinoma, postradical mastectomy and chemoradiation on hormonal therapy, presented with asymptomatic reddish lesions over the neck and trunk. Cutaneous examination revealed three discrete pedunculated, non-tender, firm erythematous growths with smooth surfaces over the neck, chest and abdomen. Histopathological examination was done with the differentials of pyogenic granuloma, haemangioma, giant acrochordon and vascular metastasis, revealing the diagnosis of eccrine poroma (EP). The remaining lesions were removed by electrocautery with no relapse till 1 year of follow-up. EP is a rare benign neoplasm arising from the acrosyringium that commonly presents as solitary, sessile or pedunculated asymptomatic papules or nodules over the palms and soles. Here we report the rare occurrence of multiple pedunculated EPs on a non-acral site in a patient who received chemoradiotherapy, which clinically mimicked pyogenic granuloma and vascular metastases. Thus, emphasising the importance of considering EP as a differential in lesions with vascular morphology.
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  • 文章类型: Journal Article
    汗腺肿瘤代表了皮肤病理学的一个具有挑战性的领域,因为它们相对不常见,并且通常在组织病理学上很复杂。最近的研究在几种汗腺肿瘤中发现了不同的免疫组织化学和分子谱。包括数字乳头状腺癌(DPA),乳头状内分泌腺瘤/管状顶腺腺瘤(PEA/TAA),类孔家族肿瘤(PFT)/乳头状癌,透明细胞腺瘤(CCH)/透明细胞腺癌(CCHCa)。为了进一步评估辅助研究在各种汗腺肿瘤中的诊断实用性,我们在一组肢端和非肢端肿瘤患者中进行了一项独立的验证研究(9DPA,8PEA/TAA,13PFT,5个癌,23CCH,7CCHCa,6汗腺癌未另作说明)。p63免疫组织化学(IHC)在8/8DPA和4个测试的PEA/TAA病例中显示肌上皮模式,在所有测试的PFT/胃癌和CCH/CCHCa病例中均显示导管图(42/42)。所有PEA/TAA(8/8)病例BRAFV600EIHC均为阳性。12个测试的PFT中的5个和5/5个胃癌病例显示NUTIHC阳性染色或通过RNA测序携带YAP1::NUTM1融合基因。MAML2荧光原位杂交(FISH)在所有CCH和CCHCa病例中均呈阳性(分别为23/23和7/7)。我们的结果进一步支持适当的辅助研究在汗腺肿瘤的精确分类中的有用性。当形态学评估有疑问时,可以常规应用于诊断病理学实践。
    Sweat gland neoplasms represent a challenging area of dermatopathology, as they are relatively uncommon and often histopathologically complex. Recent studies have uncovered distinct immunohistochemical and molecular profiles in several sweat gland neoplasms, including digital papillary adenocarcinoma (DPA), papillary eccrine adenoma/tubular apocrine adenoma (PEA/TAA), poroid family tumors (PFT)/porocarcinoma, and clear cell hidradenoma (CCH)/clear cell hidradenocarcinoma (CCHCa). To further evaluate the diagnostic utility of ancillary studies in various sweat gland neoplasms, we performed an independent validation study in a cohort of patients with acral and non-acral tumors (9 DPA, 8 PEA/TAA, 13 PFT, 5 porocarcinoma, 23 CCH, 7 CCHCa, 6 sweat gland carcinoma not otherwise specified). p63 immunohistochemistry (IHC) demonstrated a myoepithelial pattern in 8/8 DPA and 4 of 4 tested PEA/TAA cases, and showed a ductal pattern in all tested PFT/porocarcinoma and CCH/CCHCa cases (42/42). All PEA/TAA (8/8) cases were positive for BRAF V600E IHC. 5 of 12 tested PFT and 5/5 porocarcinoma cases showed either positive staining with NUT IHC or harbored YAP1::NUTM1 fusion gene by RNA sequencing. MAML2 fluorescence in situ hybridization (FISH) was positive in all CCH and CCHCa cases (23/23 and 7/7, respectively). Our results further support the usefulness of appropriate ancillary studies in precise classification of sweat gland tumors, which may be routinely applied in diagnostic pathology practice when morphologic evaluation is in doubt.
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  • 文章类型: Case Reports
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  • 文章类型: Journal Article
    分泌型腺癌,与其他皮肤肿瘤分享许多特征,在诊断上具有挑战性。传统的活检可能具有误导性,手术切除成为主要的诊断工具和治疗方法。然而,手术安全裕度数据不一致.我们提出了一个系统的综述,分析在头颈部区域的手术切缘,这是在PubMed上进行的,科克伦,和WebofScience数据库,包括从成立到2023年11月发表的研究。在这次系统审查中,使用了PRISMA-ScR检查表,Cohen的Kappa系数为0.92,表明审稿人之间的协议很好。在529篇文章中,共选择18项研究,共20例,进行全面分析。在面部区域观察到9例(45%),八个(40%)在头皮上,三个(5%)在脖子上。选择的主要治疗方法是广泛的局部切除,安全范围为3至22mm(平均:10.1)。它表明手术切缘没有年龄或解剖区域的差异,主要的参照点是肿瘤的大小。正如观察到的,肿瘤越大,安全边际越宽。然而,在分析的病例报告中,手术安全裕度的披露有限,这阻碍了我们定义最小安全裕度的能力。需要进一步调查并就建议的安全裕度达成共识。
    Eccrine porocarcinoma, sharing many features with other skin tumours, is diagnostically challenging. A conventional biopsy might be misleading and surgical excision becomes a primary diagnostic tool and a treatment method. However, the data on surgical safety margins are not consistent. We present a systematic review analysing the surgical margins of porocarcinoma in the head and neck area, which was conducted across the PubMed, Cochrane, and Web of Science databases including studies published from inception to November of 2023. In this systematic review, the PRISMA-ScR checklist was used, and a Cohen\'s Kappa coefficient of 0.92 was applied, indicating very good agreement between reviewers. Out of 529 identified articles, 18 studies yielding 20 cases in total were selected for a thorough analysis. Nine (45%) cases were observed in the facial regions, eight (40%) on the scalp, and three (5%) on the neck. The primary treatment of choice was wide local excision with safety margins ranging from 3 to 22 mm (mean: 10.1). It demonstrated that surgical margins do not differ by age or anatomic regions, with the main point of reference being the tumour size. As observed, the bigger the tumour, the wider the safety margins were. However, the limited disclosure of surgical safety margins in analysed case reports impeded our ability to define the minimum safety margins. Further investigation and a consensus on recommended safety margins are required.
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  • 文章类型: Journal Article
    大多数肿瘤是由遗传或获得性遗传变化引起的。然而,一部分肿瘤是由病毒感染引起的,包括卡波西肉瘤,鼻咽癌,和其他人。人乳头瘤病毒(HPV)是上皮癌和增生的特别常见原因。疣状表皮发育不良(EDV)是一种罕见的HPV感染,具有特征性的组织病理学特征和独特的HPV亚型谱。我们在这里报告了EDV相关的内分泌肿瘤的独特形式。分析了来自两名患者的七个肿瘤,并显示出高度一致的特征,包括多个聚集的临床病变,多灶性表皮起源,内分泌分化与acrossyringium密切相关,吻合的生长模式,和一个平淡无奇的多孔到基底细胞形态学。迄今为止,对一名患者的临床随访是良性的。这些肿瘤与先前报道的两个病例表现出强烈的相似性,提示这种类型的EDV相关内分泌肿瘤可能是一种罕见但可重复的皮肤附件肿瘤,具有独特的临床病理特征。
    Most tumors are caused by inherited or acquired genetic changes. However, a subset of tumors is driven by viral infection including Kaposi sarcoma, nasopharyngeal carcinoma, and others. Human papillomavirus (HPV) is an especially common cause of epithelial cancers and hyperplasias. Epidermodysplasia verruciformis (EDV) is a rare type of HPV infection with characteristic histopathologic features and a unique spectrum of HPV subtypes. We report here a distinctive form of EDV-associated eccrine neoplasia. Seven tumors from two patients were analyzed and show highly uniform features including multiple clustered clinical lesions, multifocal epidermal origin, eccrine differentiation with close association with the acrosyringium, an anastomosing growth pattern, and a bland monotonous poroid-to-basaloid cytomorphology. Clinical follow-up for one patient has been benign to date. These tumors show strong similarity to two previously reported cases, suggesting that this type of EDV-associated eccrine neoplasia may represent a rare but reproducible form of skin adnexal tumor with distinctive clinicopathologic features.
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  • 文章类型: Review
    背景技术眼睑肿瘤属于从良性病变到恶性肿瘤的多种肿瘤。Pormas很常见,良性,主要是表皮汗腺管单元的无色素肿瘤,通常生长缓慢,发生在老年人的手掌和脚掌上。在大多数孔瘤病例中检测到一些基因融合,是由染色体畸变引起的.病例报告我们报告了一名30岁女性患者的非典型病例,息肉,色素形成,左下眼睑上有局灶性结节状表面。病变在最初几年没有增长,但是在诊断前的最后6个月里,它的大小增加了一倍多,最终达到12×14毫米。它被移除,组织病理学分析证实了一种罕见的肿瘤-口腔癌的诊断。愈合期间无并发症,无复发报告。结论到目前为止,只有9例眼睑孔瘤的报告,提出的案例与以前的案例有很大不同,由于与战争有关的急性心理压力,它在很小的时候就出现了,并且在短时间内表现出了快速增长。此外,它有不寻常的色素沉着和难闻的气味。报告此类不典型病例在临床上很重要,因为至关重要的是要意识到内分泌孔瘤表现的多样性,以将其与恶性病变区分开。
    BACKGROUND Eyelid tumors belong to a diverse group of neoplasms ranging from benign lesions to malignant tumors. Poromas are common, benign, mostly unpigmented tumors of the epidermal sweat duct unit, that usually grow slowly and occur in elderly people on the palms and soles. In most poroma cases some gene fusions were detected, which were caused by chromosomal aberrations. CASE REPORT We report the atypical case of a 30-year-old female patient suffering for more than 15 years from a solitary, polypoid, pigmented formation with a focal tuberous surface on the left lower eyelid. The lesion was not growing during the first years, but in the last 6 months before diagnosis its size more than doubled, finally reaching 12×14 mm. It was removed and histopathological analysis confirmed the diagnosis of a rare tumor - a poroma. There were no complications during healing and no recurrence was reported. CONCLUSIONS There have so far been only 9 reports of eyelid poromas, and the presented case significantly differed from the previous ones, as it appeared at an early age and showed rapid growth during a short time due to the war-related acute psychological stress. Moreover, it had unusual pigmentation and unpleasant smell. Reporting such untypical cases is clinically important because it is crucial to be aware of the diversity of eccrine poroma manifestation to distinguish it from malignant lesions.
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  • 文章类型: Case Reports
    腺癌是罕见的汗腺癌,代表良性口腔癌的恶性对应物。他们的诊断很有挑战性,尤其是在没有相关的孔瘤或肿瘤分化差时。由于复发性YAP1::MAML2和YAP1::NUTM1融合已在类孔肿瘤中被发现,分子研究提供了一个机会,以支持在具有挑战性的病例诊断。我们描述了一个90年代初的女性患者的案例,臀部有息肉样肿块。组织病理学,孔瘤附近有一个低分化的恶性梭形细胞瘤。由于与P40的Poroma和免疫反应性密切相关,因此诊断为梭形细胞腺癌,这得到了YAP1免疫组织化学研究的进一步支持。靶向N末端和C末端的抗体证实了孔瘤和梭形细胞肿瘤中的YAP1重排。随后的靶向RNA测序揭示了YAP1::MAML3基因融合。MAML3以前还没有被报道为Porcalcetic中的YAP1融合伴侣。通过对一种罕见的梭形细胞癌变异体的说明和一种新的基因融合体的鉴定,该病例报告扩大了与胃癌相关的形态学和基因组畸变的范围。
    Porocarcinomas are rare sweat gland cancers representing the malignant counterpart to benign poromas. Their diagnosis can be challenging, especially in the absence of an associated poroma or when the tumor is poorly differentiated. Since recurrent YAP1::MAML2 and YAP1::NUTM1 fusions have been identified in poroid tumors, molecular studies provide an opportunity to support the diagnosis in challenging cases. We describe a case of a female patient in her early 90s, with a polypoid mass of the hip. Histopathologically, there was a poorly differentiated malignant spindle cell tumor adjacent to a poroma. Because of the close association with a poroma and immunoreactivity for p40, a diagnosis of spindle cell porocarcinoma was rendered, which was further supported by YAP1 immunohistochemical studies. Antibodies targeting both the N-terminus and C-terminus confirmed YAP1 rearrangement in both the poroma and the spindle cell neoplasm. Subsequent targeted RNA sequencing revealed a YAP1::MAML3 gene fusion. MAML3 has previously not yet been reported as a YAP1 fusion partner in porocarcinoma. With the illustration of a rare spindle cell variant of porocarcinoma and the identification of a novel gene fusion, this case report expands the spectrum of morphologic and genomic aberrations associated with porocarcinoma.
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  • 文章类型: Case Reports
    内分泌汗腺纤维腺瘤(ESFA)是一种内分泌导管分化的肿瘤。ESFA是一种罕见的疾病,全球仅报告约80例。ESFA可分为五种亚型。1979年,日本首次报道了老年臀肌皮肤病(SGD)。它是东亚一种比较常见的老年性皮肤病,其特征是臀区过度角化苔藓化的皮肤病变。一名86岁的妇女在骶骨区域出现单发的深棕色斑块。斑块周围有一个过度角化的苔藓化的褐色斑块,这在临床上被认为是SGD。活检标本的组织病理学检查显示,基底细胞样立方体细胞的网状细吻合。肿瘤从表皮的基底层延伸到真皮。这些发现与ESFA的结果一致。患者接受了皮肤病变的完全切除治疗。反应性ESFA与损伤后的组织再生和重塑有关,比如创伤和烧伤。到目前为止,还没有文献报道与SGD相关的ESFA,但是很少有报道发生在鞋底或臀部的病例,不断承受压力。这是关于与SGD相关的反应型ESFA的第一份报告,需要进一步的研究来揭示致病机理。
    Eccrine syringofibroadenoma (ESFA) is a tumor of eccrine ductal differentiation. ESFA is a rare disease, with only approximately 80 cases reported worldwide. ESFA can be classified into five subtypes. Senile gluteal dermatosis (SGD) was first reported in Japan in 1979. It is a relatively common geriatric dermatosis in East Asia, and characterized by hyperkeratotic lichenified skin lesions in the gluteal region. An 86-year-old woman presented with a solitary recurrent dark brown plaque in the sacral area. There was a hyperkeratotic lichenified brownish patch around the plaque, which was clinically considered SGD. Histopathological examination of biopsy specimen revealed thin anastomosing reticulated strands of basaloid cuboidal cells. The tumor extends from the basal layer of the epidermis to the dermis. These findings are consistent with those of ESFA. The patient was treated with total excision of the skin lesion. Reactive ESFA is related to tissue regeneration and remodeling after damage, such as trauma and burns. There is no literature reporting ESFA related to SGD so far, but there have been few reports of cases occurring in soles or buttocks, which are constantly under pressure. This is the first report on reactive ESFA related to SGD, and further research is needed to reveal the pathogenic mechanism.
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