Mammary Analogue Secretory Carcinoma

乳腺类似物分泌性癌
  • 文章类型: Journal Article
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  • 文章类型: Case Reports
    分泌性癌,以前被称为乳腺类似分泌癌,是一种罕见的唾液腺恶性肿瘤.它具有多种微观模式,与其他唾液腺肿瘤相似。
    本报告介绍了一例32岁女性患者,其上唇无痛肿胀,近期有未成熟卵巢畸胎瘤手术史。显微镜切片显示一个由大囊性肿瘤组成的局限性肿瘤,乳头状囊性,和微囊型,具有平淡的泡状核和空泡状的细胞质。肿瘤细胞对乳腺珠蛋白呈强烈阳性,SOX10、GATA3、S-100和波形蛋白。诊断为涎腺分泌癌。22个月后,没有复发。
    由于分泌性癌是一种相对较新的实体,有必要了解它的特点。尽管唾液腺癌患者第二原发癌的总体发病率较低,应考虑其在此类患者中存在的可能性。
    UNASSIGNED: Secretory carcinoma, previously known as mammary analog secretory carcinoma, is a rare malignancy of salivary glands. It has a diversity of microscopic patterns and is similar to other salivary gland tumors.
    UNASSIGNED: This report presents the case of a 32-year-old female patient with a painless swelling of the upper lip and a history of recent surgery for an immature ovarian teratoma. The microscopic sections revealed a circumscribed neoplasm composed of macrocystic, papillary-cystic, and microcystic patterns with bland vesicular nuclei and vacuolated cytoplasm. Tumoral cells were strongly positive for mammaglobin, SOX10, GATA3, S-100, and vimentin. The diagnosis of salivary gland secretory carcinoma was made. After 22 months, there has been no recurrence.
    UNASSIGNED: As secretory carcinoma is a relatively new entity, it is necessary to understand its characteristics. Although the overall incidence of second primary cancer in patients with salivary gland cancers is low, the possibility of its presence in such patients should be considered.
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  • 文章类型: Journal Article
    乳腺类似物分泌癌(MASC)是一种罕见的唾液腺肿瘤,具有相同的组织学特征,免疫组织化学,乳腺分泌性癌(SC)的遗传特征。在这个案例报告中,我们描述了一个年轻的青少年男性MASC病例,下颌骨直角肿胀,这是一个相对罕见的部位,组织学,和免疫组织化学特征。一名16岁的男性自2年以来一直抱怨下颌骨直角肿胀。对比增强计算机断层扫描(CECT)颈部显示神经鞘瘤的鉴别诊断,多形性腺瘤,腺样囊性肿瘤保留,随后进行细针穿刺细胞学检查(FNAC).进行FNAC,其中肌上皮肿瘤的鉴别诊断,腺泡细胞癌,SC被给予。进行手术切除,然后进行组织病理学检查。还应用了免疫组织化学小组,最终诊断为SC。SC具有独特的细胞学,组织学,和免疫组织化学特征,病理学家应识别这些特征,以便对患者进行适当的管理。
    Mammary analogue secretory carcinoma (MASC) is a rare salivary gland tumor which shares its histologic, immunohistochemical, and genetic features with the secretory carcinoma (SC) of breast. In this case report, we describe a case of MASC in a young adolescent male with swelling in the right angle of mandible which is a relatively rare site to present along with its correlation of cytological, histological, and immunohistochemical features. A 16-year-old male came with the complaint of swelling in the right angle of mandible since 2 years. Contrast-enhanced computed tomography (CECT) neck revealed differential diagnosis of nerve sheath tumor, pleomorphic adenoma, and adenoid cystic neoplasm was kept, and subsequently fine-needle aspiration cytology (FNAC) was done. FNAC was done in which differential diagnosis of myoepithelial neoplasm, acinic cell carcinoma, and SC was given. Surgical excision was done followed by histopathological examination. Immunohistochemistry panel was also applied, and final diagnosis of SC was rendered. SC has distinct cytological, histological, and immunohistochemical features which should be recognized by the pathologists for the appropriate management of the patient.
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  • 文章类型: Case Reports
    背景:在世界卫生组织(WHO)头颈部肿瘤的第四版分类中,分泌性癌(SC)被描述为一种独特的唾液腺肿瘤。SC通常被认为是一种生长缓慢的低度恶性肿瘤,虽然已经报道了一些具有高级特征的病例,甚至直到现在文献中的转移。在这篇文章中,讨论了具有高级显微特征和神经浸润的软组织SC病例。还对具有攻击行为的唾液腺SC病例进行了审查。
    方法:一名65岁的白种人在过去的6个月里出现了左颈肿块。影像学研究表明,颈部囊性肿块非常大(46×23mm),在左颈部Vb区的前外侧有乳头状突起。他接受了左根治性颈清扫术(I-V级),并随访了12个月,诊断为分泌性癌。
    结论:尽管SC通常具有良好的结果,可能发生多次复发和异常转移,这应该由病理学家或临床医生考虑。
    BACKGROUND: Secretory carcinoma (SC) has been described as a distinct salivary gland tumor in the fourth edition of the World Health Organization (WHO) classification of head and neck tumors. SC is generally considered as a slow-growing low-grade malignant tumor, while several cases have been reported with high-grade features, and even metastases in the literature up until now. In this article, a soft tissue SC case is discussed with high-grade microscopic features and neural invasion. A review of the salivary gland SC cases with aggressive behavior is also debated.
    METHODS: A 65-year-old Caucasian man presented with a left neck mass for the past six months. The imaging studies demonstrated a very large cystic cervical mass (46 × 23 mm) with papillary projections in the anterolateral aspect of the left neck zone Vb. He underwent left radical neck dissection (level I-V) and was followed up for 12 months with the diagnosis of Secretory carcinoma.
    CONCLUSIONS: Although SC generally has a good outcome, multiple recurrences and unusual metastases may occur, which should be considered by either the pathologists or clinicians.
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  • 文章类型: Systematic Review
    背景:在细针穿刺标本中诊断唾液腺分泌癌(SC)具有挑战性,因为它的低级性质使得它很难与各种良性或恶性唾液腺肿瘤区分开来。目前,金标准是证明ETV6-NTRK3融合基因。然而,通过正确识别其细胞形态特征,可以促进订购这种昂贵的分子测试的决定。
    目的:主要目的是确定细针穿刺细胞学(FNAC)诊断唾液腺SC的准确性。次要目标是识别各种细胞形态学模式,SC的特征并将其与其他肿瘤区分开。
    方法:PubMed/MEDLINE,科学直接,Embase,在Cochrane综述和PROSPERO数据库中搜索了具有以下所有关键搜索词的研究:(\“唾液腺分泌性癌\”或\“唾液腺乳腺类似物分泌性癌\”)和(\“细胞学\”或\“细胞学特征\”或\“抽吸物\”或\“细胞诊断\”)在2010年至2023年6月的时间框架内发表。报告唾液腺肿瘤细胞学特征的研究,这些肿瘤在分子研究中被证实/诊断为分泌性癌,包括在系统审查中。最后,共有17项报告45例病例的研究被纳入meta分析.
    结果:FNAC诊断唾液腺SC的敏感性为27.7%(95%CI16.6-42.5%)。LR+(正似然比)为0.654(0.344-1.245),LR-(阴性似然比)为1.023(0.538-1.946),诊断比值比为0.421(0.129-1.374)。对细胞块进行的分子测试和/或免疫组织化学提高了诊断的准确性。
    结论:识别细微的细胞形态学模式,即,乳头状形成,在大多数情况下,簇和单个分散的细胞以及细胞浆内空泡的存在是特征性的发现,通过诊断分子谱分析证实。这可能有助于通过有限的公开文献鉴定这种稀有实体,并有助于提高诊断准确性。
    BACKGROUND: The diagnosis of salivary gland secretory carcinoma (SC) in fine-needle aspiration specimens is challenging because its low-grade nature makes it difficult to differentiate it from various benign or malignant salivary gland neoplasms. Currently, the gold standard is demonstration of ETV6-NTRK3 fusion gene. However, the decision for ordering this costly molecular testing can be facilitated by the correct recognition of its cytomorphological features. The aim of the review was to determine the accuracy of fine-needle aspiration cytology (FNAC) in diagnosis of salivary gland SC. The secondary objective was to recognize varied cytomorphological patterns, characteristic features of SC and differentiate it from other neoplasms.
    METHODS: PubMed/MEDLINE, Science Direct, Embase, Cochrane review, and PROSPERO databases were searched for studies having the following key search terms: (\"secretory carcinoma of salivary gland\" OR \"mammary analogue secretory carcinoma of salivary gland\") AND (\"Cytology\" OR \"Cytological features\" OR \"aspirate\" OR \"cytodiagnosis\") published in the time frame of 2010 to June 2023. Studies reporting cytological features of the salivary gland tumors which were confirmed/diagnosed as SC on molecular investigation, were included in the systematic review. Finally, seventeen studies reporting a total of 45 cases were included in the metanalysis.
    RESULTS: The sensitivity of the FNAC in diagnosing SC in salivary gland is 27.7% (95% CI: 16.6-42.5%). The LR+ (positive likelihood ratio) was 0.654 (0.344-1.245), LR- (negative likelihood ratio) was 1.023 (0.538-1.946), and diagnostic odds ratio was 0.421 (0.129-1.374). The molecular testing and/or immunohistochemistry performed on cell block increased the diagnostic accuracy.
    CONCLUSIONS: Recognition of subtle cytomorphological patterns, i.e., papillary formation, clusters, and singly dispersed cells along with presence of fine intracytoplasmic vacuolations were the characteristic findings in majority of cases, confirmed with diagnostic molecular profiling. This may be helpful in identification of this rare entity with limited published literature and help in increasing diagnostic accuracy.
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    文章类型: Case Reports
    分泌性癌(SC),也被称为乳腺类似物分泌癌(MASC),是一种罕见的唾液腺肿瘤,具有独特的形态,具有诊断性ETV6基因重排。MASC在2010年首次被描述为一种唾液腺肿瘤,类似于乳腺分泌性癌。常被误认为是其他肿瘤。它通常表现为惰性肿瘤,但偶尔也可能表现为侵袭性。我们介绍了一例罕见的上颌龈沟伴微囊性SC/MASC患者,通过荧光原位杂交显示ETV6基因重排的固体和乳头状模式。下一代测序显示t(12;15)(p13;q25)ETV6-NTRK3易位。因为SC/MASCs有ETV6-NTRK3易位,分子研究和免疫染色是确定诊断和直接治疗的关键。
    Secretory carcinoma (SC), also known as mammary analogue secretory carcinoma (MASC), is a rare salivary gland neoplasm with distinctive morphology that harbors a diagnostic ETV6 gene rearrangement. MASC was first described as a type of salivary gland neoplasm in 2010 and resembles breast secretory carcinoma. It is often mistaken for other neoplasms. It usually acts as an indolent tumor but can occasionally behave in an aggressive manner. We present a rare case of a patient with an aggressive SC/MASC of maxillary gingivobuccal sulcus with microcystic, solid and papillary patterns that showed ETV6 gene rearrangement by fluorescence in situ hybridization. Next-generation sequencing revealed t(12;15)(p13;q25) ETV6-NTRK3 translocation. Because SC/MASCs harbor the ETV6-NTRK3 translocation, molecular studies and immunostains are crucial to confirm the diagnosis and direct therapy.
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  • 文章类型: Journal Article
    分泌性癌(SC)最初被描述为乳腺类似物分泌性癌(MASC)。我们在这里介绍一例33岁的男性,他来到耳鼻喉科门诊部,抱怨颈部左侧肿胀8个月。细针穿刺细胞学检查,给出了提示腺泡细胞癌(米兰V类)的细胞形态学特征的印象。左功能性内镜鼻窦手术。在组织病理学上,分泌性癌的最后印象,给予左颌下腺,病理分期为pT2N0Mx。唾液腺SC是一种罕见的实体,可能会带来诊断挑战。了解其细胞学特征对于实现准确诊断至关重要。形态学解释必须得到免疫组织化学谱和分子研究的支持,以确认SC的诊断。
    Secretory carcinoma (SC) was originally described as mammary analogue secretory carcinoma (MASC). We present here a case of 33 years old male who came to ENT outpatient department with a complaint of swelling over the left side of his neck for 8 months. On Fine-needle aspiration cytology, an impression of cytomorphological features suggestive of acinic cell carcinoma (Milan category V) was given. Left functional endoscopic sinus surgery was done. On histopathology, a final impression of Secretory carcinoma, the left submandibular gland was given with pathological stage classification as pT2N0Mx. SC of the salivary gland is a rare entity that may pose diagnostic challenges. Awareness of its cytologic features is paramount to achieve an accurate diagnosis. Morphologic interpretation must be supported by an immunohistochemical profile and molecular studies to confirm a diagnosis of SC.
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  • 文章类型: Journal Article
    唾液腺肿瘤占头颈部肿瘤的3-6%。70-80%的腮腺肿瘤在组织病理学上是良性的。FNAC在诊断腮腺肿瘤方面的总体准确率为95%。然而,剩下的5%仍然构成组织病理学的奥秘,可能需要手术切除腮腺。我们报告了一例42岁的男子,有腮腺肿胀史,FNAC报告显示有低度粘液表皮样癌或导管腺癌的可能性。手术切除后的最终组织病理学诊断揭示了腮腺乳腺类似物分泌性癌的新病理实体。
    Salivary gland neoplasms account for 3-6% of head and neck tumours. 70-80% of parotid tumours are benign in histopathology. FNAC has an overall accuracy of 95% in diagnosis of parotid neoplasms. However, the remaining 5% still pose a histopathological mystery which may require a surgical excision of the parotid. We report a case of a 42 year-old-man with a history of parotid swelling and a FNAC report which showed a possibility of a low-grade mucoepidermoid carcinoma or a ductal adenocarcinoma. Final histopathological diagnosis after surgical excision revealed a new pathological entity in mammary analogue secretory carcinoma of parotid.
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  • 文章类型: Journal Article
    涎腺分泌癌(SC),以前的乳腺模拟SC,是一种低度恶性肿瘤,其特征在于明确的形态学以及与乳腺SC相同的免疫组织化学和遗传谱。导致ETV6::NTRK3基因融合的t(12;15)(p13;q25)易位是SC与S100蛋白和乳腺球蛋白免疫阳性的特征。SC的遗传改变谱继续进化。这项回顾性研究的目的是收集唾液腺SCs的数据并将其组织学联系起来。免疫组织化学,和分子遗传学数据与临床行为和长期随访。在这项大型回顾性研究中,我们旨在建立组织学分级方案和评分系统。从作者的肿瘤登记处获得了在1994年至2021年之间诊断出的215例唾液腺SC。80例最初被诊断为SC以外的东西,最常见的是腺泡细胞癌。淋巴结转移占17.1%(20/117例可用数据),远处转移5.1%(6/117)。15%的患者出现疾病复发(n=17/113例,有可用数据)。分子遗传图谱显示ETV6::NTRK3基因融合率95.4%,其中ETV6::NTRK3和MYB::SMR3B双重融合1例。较低频率的融合转录物包括ETV6::RET(n=12)和VIM::RET(n=1)。使用6个病理参数的3层分级方案(主要结构,多态性,肿瘤坏死,神经周浸润(PNI),淋巴管浸润(LVI),应用有丝分裂计数和/或Ki-67标记指数)。44.7%(n=96)观察到1级组织学,二级在41.9%(n=90),13.5%(n=29)的病例为3级。与低级和中级SC相比,高级别肿瘤与坚固的结构有关,更突出的透明化,浸润性肿瘤边界,核多态性,PNI和/或LVI的存在,Ki-67增殖指数>30%。高品位改造,2级或3级肿瘤的子集,8.8%(n=19),被定义为将常规SC突然转变为高级形态,片状生长,和缺乏SC独特特征的肿瘤。总体生存率和无病生存率(5和10年)均受肿瘤分级的负面影响,舞台,和TNM状态(每个P<0.0001)。SC是一种低度恶性肿瘤,主要是实性-微囊性生长模式,由基因融合驱动,最常见的ETV6::NTRK3。局部复发的风险较低,总体长期生存率良好,远处转移的风险较低,但局部淋巴结转移的风险较高。肿瘤坏死的存在,透明质化,PNI和/或LVI,阳性切除边缘与较高的肿瘤分级相关,预后较差,和死亡率增加。统计结果使我们能够设计唾液SC的3层分级系统。
    Salivary gland secretory carcinoma (SC), previously mammary analog SC, is a low-grade malignancy characterized by well-defined morphology and an immunohistochemical and genetic profile identical to SC of the breast. Translocation t(12;15)(p13;q25) resulting in the ETV6 :: NTRK3 gene fusion is a characteristic feature of SC along with S100 protein and mammaglobin immunopositivity. The spectrum of genetic alterations for SC continues to evolve. The aim of this retrospective study was to collect data of salivary gland SCs and to correlate their histologic, immunohistochemical, and molecular genetic data with clinical behavior and long-term follow-up. In this large retrospective study, we aimed to establish a histologic grading scheme and scoring system. A total of 215 cases of salivary gland SCs diagnosed between 1994 and 2021 were obtained from the tumor registries of the authors. Eighty cases were originally diagnosed as something other than SC, most frequently acinic cell carcinoma. Lymph node metastases were identified in 17.1% (20/117 cases with available data), with distant metastasis in 5.1% (6/117). Disease recurrence was seen in 15% (n=17/113 cases with available data). The molecular genetic profile showed ETV6 :: NTRK3 gene fusion in 95.4%, including 1 case with a dual fusion of ETV6 :: NTRK3 and MYB :: SMR3B . Less frequent fusion transcripts included ETV6 :: RET (n=12) and VIM :: RET (n=1). A 3-tiered grading scheme using 6 pathologic parameters (prevailing architecture, pleomorphism, tumor necrosis, perineural invasion (PNI), lymphovascular invasion (LVI), and mitotic count and/or Ki-67 labeling index) was applied. Grade 1 histology was observed in 44.7% (n=96), grade 2 in 41.9% (n=90), and grade 3 in 13.5% (n=29) of cases. Compared with low-grade and intermediate-grade SC, high-grade tumors were associated with a solid architecture, more prominent hyalinization, infiltrative tumor borders, nuclear pleomorphism, presence of PNI and/or LVI, and Ki-67 proliferative index >30%. High-grade transformation, a subset of grade 2 or 3 tumors, seen in 8.8% (n=19), was defined as an abrupt transformation of conventional SC into high-grade morphology, sheet-like growth, and a tumor lacking distinctive features of SC. Both overall survival and disease-free survival (5 and 10 y) were negatively affected by tumor grade, stage, and TNM status (each P <0.0001). SC is a low-grade malignancy with predominantly solid-microcystic growth patterns, driven by a gene fusion, most commonly ETV6 :: NTRK3 . There is a low risk for local recurrence and a good overall long-term survival, with a low risk for distant metastasis but a higher risk for locoregional lymph node metastasis. The presence of tumor necrosis, hyalinization, PNI and/or LVI, and positive resection margins correlate with higher tumor grade, less favorable prognosis, and increased mortality. The statistical results allowed us to design a 3-tiered grading system for salivary SC.
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