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Primary Papillary Colonic Adenocarcinoma With PDGFRA Mutation. A New Morphological Subtype? A Case Report and Review of Literature. 伴有 PDGFRA 基因突变的原发性乳头状结肠腺癌。一种新的形态亚型?病例报告与文献综述。
IF 0.9 4区 医学 Q4 PATHOLOGY Pub Date : 2024-10-01 Epub Date: 2024-02-01 DOI: 10.1177/10668969241228293
Judith González-López, Sarai Palanca, Jorge Sancho-Muriel, Cristina Martínez-Chicote, Francisco Giner

Classic colon carcinomas are defined as adenocarcinomas, characterized by groups of medium/large cells with basophilic and polymorphous nuclei and an eosinophilic elongated cytoplasm, that rearrange on glandular structures. Signs of poor prognosis include high tumor budding, lymphovascular and perineural invasion, poor differentiation, positive margins, and CDX2 loss. Less frequent colon carcinoma subtypes are: mucinous, medullary, signet-ring cell, squamous cell, small cell and undifferentiated carcinoma, among others. In the following case report, we present a 65-year-old woman with a T2N0Mx colon carcinoma with a remarkable papillary and follicular histological appearance. The immunohistochemical stains confirmed an intestinal origin (CDX2+) and excluded a thyroid, gynecological, and urological metastasis, with tumor cells negative for GATA3, PAX8, TTF-1, and thyroglobulin. There was no loss of mismatch repair proteins and p53 showed a wild-type staining. next generation sequencing showed a platelet-derivated growth factor receptor alpha (PDGFRA) mutation. To the best of our knowledge, there have been only two examples of primary papillary colon carcinoma reported in the literature, and neither of them with a PDGFRA mutation. We describe one tumor and discuss its pathological features.

典型结肠癌被定义为腺癌,其特征是中/大细胞群,核嗜碱性和多形性,胞质嗜酸性拉长,在腺体结构上重新排列。预后不良的迹象包括肿瘤高度出芽、淋巴管和神经周围受侵、分化不良、边缘阳性和 CDX2 缺失。较少见的结肠癌亚型包括:粘液腺癌、髓样癌、印戒细胞癌、鳞状细胞癌、小细胞癌和未分化癌等。在下面的病例报告中,我们介绍了一位 65 岁女性的 T2N0Mx 结肠癌,其组织学表现为显著的乳头状和滤泡状。免疫组化染色证实肿瘤来源于肠道(CDX2+),排除了甲状腺、妇科和泌尿系统转移,肿瘤细胞的 GATA3、PAX8、TTF-1 和甲状腺球蛋白均为阴性。下一代测序显示血小板衍生生长因子受体α(PDGFRA)发生突变。据我们所知,文献中仅报道过两例原发性乳头状结肠癌,而且这两例都不伴有 PDGFRA 突变。我们对其中一个肿瘤进行了描述,并讨论了其病理特征。
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引用次数: 0
Fibro-Adipose Vascular Anomaly (FAVA): Not Another Vascular Anagram. 纤维脂肪血管异常(FAVA):不是另一个血管字母组合
IF 0.9 4区 医学 Q4 PATHOLOGY Pub Date : 2024-10-01 Epub Date: 2024-01-17 DOI: 10.1177/10668969241227011
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引用次数: 0
An Unusual Case of Clear Cell Chondrosarcoma With Early Metastatic Recurrence. 一个罕见的早期转移复发透明细胞软骨肉瘤病例
IF 0.9 4区 医学 Q4 PATHOLOGY Pub Date : 2024-10-01 Epub Date: 2024-01-31 DOI: 10.1177/10668969231225774
Lucas Kasson, Gayathri Vijayakumar, Linus Lee, Charles Gusho, Ankica Braun, Ira Miller, Matthew W Colman, Alan T Blank

We present a case of a 58-year-old male who presented following 4 months of progressively worsening right upper extremity pain. Initial pathology demonstrated pleomorphic chondroblasts with increased mitotic activity indicating an intermediate grade (Grade 2) clear cell chondrosarcoma of the proximal humerus. Following surgical resection, the primary lesion demonstrated aggressive behavior and early metastasis to the cervical and thoracic spine. The patient unfortunately expired 30 months after initial presentation. Although clear cell chondrosarcoma has been historically regarded as low grade, we present a unique example of an aggressive clinical course of clear cell chondrosarcoma.

我们报告了一例 58 岁男性的病例,他的右上肢疼痛在 4 个月后逐渐加重。最初的病理结果显示为多形性软骨母细胞,有丝分裂活性增强,表明这是肱骨近端中级(2 级)透明细胞软骨肉瘤。手术切除后,原发病灶表现出侵袭性,并早期转移至颈椎和胸椎。患者在初次发病 30 个月后不幸去世。虽然透明细胞软骨肉瘤历来被认为是低级别肿瘤,但我们介绍了一个独特的透明细胞软骨肉瘤侵袭性临床病程的病例。
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引用次数: 0
SMARCA4-Deficient Undifferentiated Tumor of the Esophagus: Diagnostic Pitfalls in Immunohistochemical Profiles. SMARCA4缺陷型食管未分化肿瘤:免疫组化图谱的诊断陷阱。
IF 0.9 4区 医学 Q4 PATHOLOGY Pub Date : 2024-10-01 Epub Date: 2024-03-18 DOI: 10.1177/10668969241228290
Rana Chakrabarti, Sherman Lin, Hui Wang, Matthew Cecchini

SMARCA4-deficient undifferentiated tumors (SMARCA4-UT) are a newly described entity and are typically seen in the thoracic cavity. However, these tumors have been described in other body sites, including the esophagus. These tumors are rare, aggressive neoplasms, characterized by the loss of protein product of SMARCA4 (Brahma-related gene-1) and the preservation of INI1 (SMARCB1) expression. Here, we present two tumors of SMARCA4-UT of the esophagus with its microscopic appearance and immunohistochemical profile. We also include a literature review of SMARCA4-deficient tumors of the tubular gastrointestinal tract with their immunohistochemical and mismatch repair profiles for each specimen. Due to its non-specific histologic appearance and variable staining in expanded immunohistochemical panels, this tumor frequently overlaps with other tumor types, making the diagnosis of SMARCA4-UT challenging. These tumors are often associated with intestinal metaplasia of the esophagus and are thought to represent a high-grade undifferentiated transformation of a conventional esophageal adenocarcinoma. These tumors are typically associated with poor clinical outcomes and have poor response to conventional therapies. Currently, there are no standard guidelines for treatment of these tumors; however, palliative radiotherapy and systemic chemotherapy may provide benefit. More recently, immunotherapy and novel therapeutic targets have shown some promise for these patients.

SMARCA4缺陷性未分化肿瘤(SMARCA4-UT)是一种新描述的实体瘤,通常见于胸腔。不过,这些肿瘤也出现在其他身体部位,包括食道。这些肿瘤是罕见的侵袭性肿瘤,其特征是 SMARCA4(梵天相关基因-1)蛋白产物的缺失和 INI1(SMARCB1)表达的保留。在此,我们将介绍两例食管 SMARCA4-UT 肿瘤的显微镜外观和免疫组化特征。我们还对管状胃肠道SMARCA4缺陷肿瘤的文献进行了综述,并对每个标本的免疫组化和错配修复情况进行了分析。由于SMARCA4-UT肿瘤的组织学外观无特异性,且在扩大的免疫组化板中染色不一,因此经常与其他肿瘤类型重叠,使SMARCA4-UT的诊断具有挑战性。这些肿瘤通常与食管肠化生有关,被认为是传统食管腺癌的高级别未分化转化。这些肿瘤的临床疗效通常较差,对传统疗法的反应也不佳。目前,还没有治疗这类肿瘤的标准指南;不过,姑息性放疗和全身化疗可能会使患者受益。最近,免疫疗法和新型治疗靶点已显示出对这类患者的治疗前景。
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引用次数: 0
Synaptophysin-expressing Gastric Glomus Tumors. 表达突触素的胃胶质瘤
IF 0.9 4区 医学 Q4 PATHOLOGY Pub Date : 2024-10-01 Epub Date: 2024-01-30 DOI: 10.1177/10668969241226710
Badr AbdullGaffar, Nawal Al-Nahdi
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引用次数: 0
Rock on the Heart: A Case of Calcifying Fibrous Tumor Arising From the Pericardium and Literature Review. 心脏上的岩石一例心包钙化纤维瘤病例及文献综述。
IF 0.9 4区 医学 Q4 PATHOLOGY Pub Date : 2024-10-01 Epub Date: 2024-02-01 DOI: 10.1177/10668969231225772
Jiaqi Wang, Dong Chen, Jianfeng Shang, Fang Dong

Calcifying fibrous tumors are rare benign fibrous tumors that rarely occur in the heart. We report a 33-year-old woman who was found to have a benign pericardial tumor on health checkup, which was highly suspected to be a teratoma in clinical and imaging examination. After cardiac tumor resection, histopathological features showed scattered foci of psammoma bodies or calcification among collagenized fibrous connective tissues and foci of inflammatory cell infiltration in the interstitium. The pathological diagnosis was a calcifying fibrous tumor.

钙化纤维性肿瘤是一种罕见的良性纤维性肿瘤,很少发生在心脏部位。我们报告了一名 33 岁女性的病例,她在体检时发现患有良性心包肿瘤,临床和影像学检查高度怀疑该肿瘤为畸胎瘤。心脏肿瘤切除术后,组织病理学特征显示胶原纤维结缔组织中有散在的脓肿瘤体或钙化灶,间质中有炎性细胞浸润灶。病理诊断为钙化纤维瘤。
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引用次数: 0
Autoimmune Metaplastic Atrophic Gastritis (AMAG): Regional Demographics and Their Effect on Prevalence. 自身免疫性变性萎缩性胃炎(AMAG):地区人口统计学及其对患病率的影响。
IF 0.9 4区 医学 Q4 PATHOLOGY Pub Date : 2024-10-01 DOI: 10.1177/10668969241271311
Julio C Poveda, Jason Y Park, Monica T Garcia-Buitrago, Aatur Singhi, Zainab Alruwaii, Shria Kumar, Oliver G McDonald, Elizabeth A Montgomery

Autoimmune metaplastic atrophic gastritis (AMAG) is a chronic immune-mediated form of gastritis characterized by damage to oxyntic cells, ultimately resulting in both iron deficiency with or without anemia and pernicious anemia. The current dogma is that AMAG is a disease of White Northern European women of advanced age. We, therefore, sought to examine the prevalence of AMAG in biopsies obtained from populations enriched for self-identified Hispanics for cross-comparison against data from previously reported populations enriched for self-identified White, non-Hispanic patients. To that end, we prospectively collected 1708 sequential gastric biopsies performed at the University of Miami Hospitals/Jackson Health Systems clinics from 1692 patients over a 1-year period as well as pertinent clinical parameters. These Florida data were then compared against data previously collected from the Baltimore population, which has far lower numbers of Hispanic patients. Self-identified race and/or ethnicity were used. From these 1692 patients, we identified 79 patients (4.6%) with AMAG. These included 60 women (76%) and 19 men (24%), with a F:M ratio of 3.1:1. Patients had a median age of 60 years (range: 15-83). Self-identified race and/or ethnicity were: 60 (76.0%) Hispanic, 9 (11.4%) Black, 9 (11.4%) White, and 1 Asian (1.2%). The median age at initial presentation was: 51 years (range: 15-83) in Hispanics, 77.2 years (range: 46-74) in Blacks, 59 years (range: 49-79) in Whites, and 58 years in the only Asian patient. The overall demographics of AMAG largely mirrored the Florida population, with an over-representation of Hispanics (Florida inhabitants self-report as 70% Hispanic). The overall 4.6% prevalence of AMAG in the Florida population differed significantly from the 1.1% in Baltimore (p < .00001), a finding that presumably reflects the large Hispanic population. In fact, the prevalence of AMAG is far higher in Hispanic patients. Awareness of these data should increase recognition of AMAG in this population.

自身免疫性变性萎缩性胃炎(AMAG)是一种由免疫介导的慢性胃炎,其特点是氧合细胞受损,最终导致缺铁性贫血或恶性贫血。目前的理论认为,AMAG 是北欧白种高龄女性的疾病。因此,我们试图研究从自我认同为西班牙裔的人群中获取的活组织切片中 AMAG 的患病率,以便与之前报道的自我认同为白人的非西班牙裔患者中的数据进行交叉比较。为此,我们前瞻性地收集了迈阿密大学医院/杰克逊健康系统诊所在 1 年内对 1692 名患者进行的 1708 例连续胃活检以及相关临床参数。然后,我们将佛罗里达州的这些数据与之前从巴尔的摩人群中收集的数据进行了比较,巴尔的摩的西班牙裔患者人数要少得多。使用的是自我认定的种族和/或民族。在这 1692 名患者中,我们发现了 79 名 AMAG 患者(4.6%)。其中包括 60 名女性(76%)和 19 名男性(24%),男女比例为 3.1:1。患者的中位年龄为 60 岁(15-83 岁)。自我认同的种族和/或民族为西班牙裔 60 人(76.0%),黑人 9 人(11.4%),白人 9 人(11.4%),亚裔 1 人(1.2%)。初次发病时的中位年龄为西班牙裔中位年龄为 51 岁(范围:15-83 岁),黑人中位年龄为 77.2 岁(范围:46-74 岁),白人中位年龄为 59 岁(范围:49-79 岁),唯一的亚裔患者中位年龄为 58 岁。AMAG 的总体人口统计学特征与佛罗里达州的人口构成基本一致,西班牙裔人口比例过高(佛罗里达州居民自称 70% 为西班牙裔)。佛罗里达州人口中 AMAG 的总体发病率为 4.6%,与巴尔的摩的 1.1% 有显著差异(p
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引用次数: 0
Extra-Ocular Sebaceous Carcinoma in Situ of the Arm of an Elder Male: An Unusual Presentation in an Atypical Location. 一名老年男性手臂上的眼外皮脂腺原位癌:非典型部位的异常表现。
IF 0.9 4区 医学 Q4 PATHOLOGY Pub Date : 2024-10-01 Epub Date: 2024-01-31 DOI: 10.1177/10668969241226701
Nada Shaker, Omar P Sangueza, Nuha Shaker, Dinesh Pradhan

Background. Sebaceous carcinoma in situ outside the ocular region is an exceedingly uncommon. It is an intraepidermal neoplasm originating from sebaceous glands limited to the epidermis with no invasion into the underlying dermis or beyond. Although sebaceous carcinoma in situ is predominantly observed in ocular regions, particularly the eyelids, instances of its occurrence in extraocular locations are infrequent, with only a limited number of examples reported in the literature. Case Presentation. A 63-year-old man presented with a left posterior arm lesion. Microscopic examination revealed a proliferation of poorly differentiated atypical neoplastic sebocytes confined to the epidermis with pleomorphic nuclei, prominent nucleoli, and clear cell changes. The neoplastic cells demonstrated positive staining for adipophilin, androgen receptor, epithelial membrane antigen, P63, BerEP4, and keratin 7. Microsatellite instability markers showed preserved nuclear staining for MLH1, PMS2, MSH2, and MSH6. A definitive diagnosis of sebaceous carcinoma in situ was rendered. Discussion. The distinctive histopathologic characteristics typically involve the presence of atypical sebaceous cells confined within the epidermis. Atypical cells often exhibit enlarged nuclei, increased mitotic activity, and prominent nucleoli. A panel of epithelial membrane antigen, adipophilin, and androgen receptors is essential for ensuring an accurate diagnosis. Conclusion. This report underscores the importance of considering sebaceous carcinoma in situ in diagnosis in atypical locations, emphasizing the need for a comprehensive histopathologic examination and immunohistochemical staining panel. This article aims to demonstrate the rarity of sebaceous carcinoma in situ in extraocular sites to broaden our understanding of its diverse clinical presentations.

背景。眼部以外的皮脂腺原位癌极为罕见。皮脂腺原位癌是一种起源于皮脂腺的表皮内肿瘤,局限于表皮,不侵犯下层真皮或其他部位。虽然皮脂腺原位癌主要发生在眼部,尤其是眼睑,但发生在眼外部位的病例并不多见,文献中仅有少量报道。病例介绍。一名 63 岁的男子因左臂后部病变前来就诊。显微镜检查发现,分化较差的非典型肿瘤性皮脂腺细胞增生,局限于表皮,细胞核多形,核仁突出,细胞变为透明。肿瘤细胞的嗜脂素、雄激素受体、上皮膜抗原、P63、BerEP4 和角蛋白 7 染色阳性。微卫星不稳定性标记物显示,MLH1、PMS2、MSH2 和 MSH6 的核染色保留。最终确诊为皮脂腺原位癌。讨论皮脂腺原位癌具有明显的组织病理学特征,通常是表皮内存在非典型皮脂腺细胞。非典型细胞通常表现为细胞核增大、有丝分裂活动增强和核小体突出。上皮膜抗原、嗜脂肪蛋白和雄激素受体的检测对于确保准确诊断至关重要。结论。本报告强调了考虑皮脂腺原位癌诊断不典型位置的重要性,强调了进行全面组织病理学检查和免疫组化染色的必要性。本文旨在说明眼外部位皮脂腺原位癌的罕见性,从而拓宽我们对其不同临床表现的认识。
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引用次数: 0
Lipoprotein Glomerulopathy With Complete Resolution With Fenofibrate: Report of First Case From Pakistan. 非诺贝特可完全缓解脂蛋白肾小球病:巴基斯坦首例病例报告
IF 0.9 4区 医学 Q4 PATHOLOGY Pub Date : 2024-10-01 Epub Date: 2024-02-07 DOI: 10.1177/10668969241228298
Nada Shaker, Ruwaida Ben Musa, Nuha Shaker, Humaira Nasir, Tafiya Erum Kamran, Fnu Poombal, Abdul Abid, Rafat Abu Shakra, Ibrahim Mansoor

Background: Lipoprotein glomerulopathy is an infrequent glomerular disorder that culminates in nephrotic syndrome and often progresses to kidney failure. Whereas most patients have been reported in Japan and China, limited reports have been documented outside these regions. This patient represents the first report of lipoprotein glomerulopathy in Pakistan. Case Presentation: A 25-year-old male patient, hypertensive for 2 years, presented with progressive body edema, frothy urine, and fatigue. Examination revealed elevated blood pressure, bilateral pedal edema, and positive shifting dullness. Laboratory results showed significant proteinuria and elevated cholesterol and triglyceride levels. Renal biopsy revealed enlarged glomeruli with a dilated capillary lumen filled with pale-staining mesh-like material "lipoprotein thrombi." Mild tubular atrophy and interstitial inflammation were observed. No interstitial fibrosis was evident. Electron microscopy detailed the lipoprotein thrombi with lipid granules and vacuoles of various sizes. A diagnosis of lipoprotein glomerulopathy was rendered. Treatment with fenofibrate, rosuvastatin, and captopril led to notable improvements in symptoms, blood pressure, and lipid levels during a 6-month follow-up. Subsequent biopsy showed complete resolution of the lipoprotein thrombi and a significant reduction in subendothelial granular densities. However, the flocculent subendothelial material persisted to some extent despite the complete resolution of lipoprotein thrombi. Conclusion: This report underscores the rarity of lipoprotein glomerulopathy in Pakistan and contributes valuable insights into its histopathologic features and global epidemiology. This unique instance aims to raise awareness among healthcare professionals, aiding in improved recognition of this rare entity. The favorable response to fenofibrate treatment underscores its effectiveness in managing lipoprotein glomerulopathy.

背景:脂蛋白肾小球病是一种不常见的肾小球疾病,最终导致肾病综合征,并常常发展为肾衰竭。大多数患者在日本和中国就诊,但在这些地区以外的地区就诊的患者数量有限。该患者是巴基斯坦首次报告脂蛋白肾小球病。病例介绍:一名 25 岁的男性患者,患有高血压 2 年,出现全身进行性水肿、尿液呈泡沫状和乏力。检查发现血压升高、双侧足底水肿和正移迟钝。化验结果显示有明显蛋白尿,胆固醇和甘油三酯水平升高。肾活检显示肾小球增大,毛细血管管腔扩张,充满了苍白染色的网状物质 "脂蛋白血栓"。观察到轻度肾小管萎缩和间质炎症。间质纤维化不明显。电子显微镜检查发现,脂蛋白血栓中含有不同大小的脂质颗粒和空泡。诊断结果为脂蛋白肾小球病。使用非诺贝特、罗苏伐他汀和卡托普利治疗后,患者的症状、血压和血脂水平在6个月的随访中明显改善。随后的活组织检查显示,脂蛋白血栓完全消退,内皮下颗粒密度显著降低。然而,尽管脂蛋白血栓已完全清除,但内皮下的絮状物质在一定程度上仍然存在。结论本报告强调了脂蛋白肾小球病在巴基斯坦的罕见性,并对其组织病理学特征和全球流行病学提供了宝贵的见解。这一独特的病例旨在提高医护人员的认识,帮助他们更好地识别这种罕见的疾病。患者对非诺贝特治疗的良好反应突显了其在控制脂蛋白肾小球病方面的有效性。
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引用次数: 0
A Case Report of Carcinoid With Teratoma Arising From the Renal Hilum. 肾门畸胎瘤伴类癌的病例报告
IF 0.9 4区 医学 Q4 PATHOLOGY Pub Date : 2024-10-01 Epub Date: 2024-02-08 DOI: 10.1177/10668969241228299
Sachiko Shokei, Mamiko Nagase, Asuka Araki, Hirochika Nakajima, Koichiro Wada, Daisuke Niino

Teratoma is a germ cell tumor composed of 2 or 3 germ cell layers, and it can occur in various parts of the human body. However, teratomas of the renal hilum are particularly rare, and those complicated by carcinoids are even more uncommon. Herein, we report the example of an asymptomatic 49-year-old woman in whom a tumor in the right renal hilum was unexpectedly discovered on imaging. Histological examination revealed a carcinoid tumor arising from a simple cyst composed of teratomatous tissue. Although the tumor was located in the renal hilum and touched the renal parenchyma, it appeared independent of the kidney and urinary tract. This report highlights the rare occurrence of teratomas with carcinoids and provides insights into their origins.

畸胎瘤是一种由 2 或 3 层生殖细胞组成的生殖细胞肿瘤,可发生在人体的各个部位。然而,肾门畸胎瘤尤其罕见,而并发类癌的畸胎瘤则更为罕见。在此,我们报告了一名无症状的 49 岁女性的病例,她在影像学检查中意外发现右肾盂肿瘤。组织学检查显示,类癌源于一个由畸胎瘤组织构成的单纯囊肿。虽然肿瘤位于肾门并触及肾实质,但它似乎与肾脏和泌尿道无关。本报告强调了类癌畸胎瘤的罕见性,并对其起源提供了深入的见解。
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引用次数: 0
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International Journal of Surgical Pathology
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