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Synchronous Mucinous Carcinomas of Ovary and Appendix: A Case Report With Diagnostic Pitfalls and Review of Corresponding Literature 卵巢及阑尾同步黏液性癌:诊断缺陷1例及相关文献复习
Pub Date : 2022-05-01 DOI: 10.1097/PCR.0000000000000505
Shaymaa E Hegazy, R. Bhargava, Somak Roy, E. Elishaev
Background Diagnosis of the primary ovarian mucinous neoplasms occasionally poses a challenge because historically most tumors diagnosed as primary ovarian were documented as metastases from gastrointestinal and pancreatobiliary tracts. This challenge is attributed to the overlapping histologic features, the gray zone, between primary and metastatic mucinous neoplasms in the ovary. While presentation of both primary and metastatic mucinous tumors manifests by the presence of an ovarian mass, determination of the site of origin is clinically significant, because most treatment guidelines are based on the tissue of origin. Case Presentation We present an unusual case of mucinous adenocarcinoma of the ovary and the appendix with diagnostic pitfalls and challenges of immunohistochemical profile. Conclusion Utilization of molecular analysis in challenging cases of ovarian neoplasms helps to narrow down the gray zone and lessens the misdiagnosis of primary ovarian mucinous tumors.
背景:原发性卵巢黏液性肿瘤的诊断有时会带来挑战,因为历史上大多数被诊断为原发性卵巢的肿瘤被记录为胃肠道和胰胆道的转移。这一挑战是由于卵巢原发性和转移性粘液瘤之间的重叠组织学特征,灰色地带。虽然原发性和转移性黏液性肿瘤的表现都表现为卵巢肿块的存在,但确定原发部位在临床上具有重要意义,因为大多数治疗指南都是基于原发组织。我们报告一个罕见的卵巢和阑尾粘液腺癌病例,其诊断缺陷和免疫组织化学特征的挑战。结论分子分析在卵巢肿瘤诊断中的应用有助于缩小灰色地带,减少原发性卵巢黏液性肿瘤的误诊。
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引用次数: 0
The Scream: Benign Thyroid Tissue as a Lateral Neck Mass 尖叫:良性甲状腺组织作为侧颈部肿块
Pub Date : 2022-05-01 DOI: 10.1097/PCR.0000000000000500
A. Wiles, Sadia Sayeed
Abstract Variant anatomy and cytomorphological overlap between benign and malignant conditions can coincide to produce diagnostic error. We report the case of an unusually shaped thyroid gland bearing a follicular adenoma interpreted as a metastatic papillary thyroid carcinoma. The shape of the gland had a striking resemblance to The Scream, a painting by Edvard Munch, and directly contributed to the misdiagnosis. We discuss the known embryological mechanisms of thyroid development, ultrasound radiological characteristics of thyroid examination, and the cytomorphologic interpretation of thyroid tissue. The constellation of these elements and the resultant error is eloquently illustrated by Munch’s artistic inspiration.
良性和恶性疾病之间的变异解剖和细胞形态重叠可以重合产生诊断错误。我们报告一个异常形状的甲状腺携带滤泡腺瘤解释为转移性甲状腺乳头状癌。该腺体的形状与爱德华·蒙克(Edvard Munch)的画作《呐喊》(The Scream)惊人地相似,这直接导致了误诊。我们讨论了已知的甲状腺发育的胚胎学机制,甲状腺检查的超声放射学特征,以及甲状腺组织的细胞形态学解释。这些元素的组合和由此产生的错误被蒙克的艺术灵感雄辩地说明了。
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引用次数: 0
Flow Cytometry: a Helpful Ancillary Tool in the Hematopathologist World But Can Be Misleading Without Morphology 流式细胞术:一个有用的辅助工具,在血液病理学家的世界,但可以误导没有形态学
Pub Date : 2022-05-01 DOI: 10.1097/PCR.0000000000000509
Barina Aqil, J. Ramos
Abstract Flow cytometry (FC) is a powerful tool for characterizing hematopoietic cells and plays a critical role in the diagnosis and classification of hematopoietic neoplasms. However, its accuracy rate alone without morphology is questionable. It is imperative to always have clinical and morphologic correlation. Herein, we describe a case of nasal mass, which could have been misdiagnosed as a hematologic malignancy based on FC alone without morphologic examination.
流式细胞术(FC)是表征造血细胞的有力工具,在造血肿瘤的诊断和分类中起着至关重要的作用。然而,在没有形态学的情况下,其准确率是值得怀疑的。必须始终保持临床和形态学的相关性。在此,我们描述一个病例鼻肿块,这可能被误诊为血液恶性肿瘤仅基于FC没有形态学检查。
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引用次数: 0
Sarcomatoid Mesothelioma with Bland Histologic Features: A Potential Pitfall in Diagnosis. 具有Bland组织学特征的肉瘤样间皮瘤:诊断中的一个潜在缺陷。
Pub Date : 2022-05-01 DOI: 10.1097/PCR.0000000000000506
Allen P Burke, Naomi Hardy, Rachel Fanaroff, Teklu Legesse

Sarcomatoid mesotheliomas can be challenging to diagnose on small biopsy specimens, where limited material may preclude definitive assessment of invasion and lesional cells can have relatively bland cytology with no mesothelial marker expression. We report a case of a patient who presented with a pleural effusion and had subsequent pleural biopsy that showed a bland, uniform spindle cell proliferation in a mildly myxoid background. There was little if any collagen; no chest wall, soft tissue, or fat; and mesothelial markers were negative. The cells were positive for pancytokeratin and GATA3 by immunohistochemistry, and in situ hybridization showed a "negative" result for homozygous loss of CDKN2A; however, there was partial (heterozygous) loss of one allele. A diagnosis of atypical spindle cell proliferation was made based on these findings. Several months later, the patient had a repeat pleural biopsy that showed spindled cells with more pleomorphism, areas of invasion into the chest wall, and the same partial loss of CDKN2A, consistent with a sarcomatoid mesothelioma. This case underscores the challenges present on small biopsy specimens, the fact that sarcomatoid mesotheliomas can be relatively bland appearing with focal pleomorphism, and that heterozygous loss of CDKN2A should be considered a positive result indicative of a neoplastic process.

肉瘤样间皮瘤在小的活检标本上诊断可能很有挑战性,因为有限的材料可能会阻碍对侵袭的明确评估,并且病变细胞的细胞学可能相对平淡,没有间皮标记物表达。我们报告了一例患者,他出现胸腔积液,随后进行了胸膜活检,结果显示轻度黏液样背景下的纺锤体细胞增殖平淡、均匀。几乎没有胶原蛋白;无胸壁、软组织或脂肪;间皮标志物为阴性。免疫组化显示细胞的泛细胞角蛋白和GATA3阳性,原位杂交显示CDKN2A纯合缺失的“阴性”结果;然而,有一个等位基因的部分(杂合)丢失。基于这些发现,对非典型梭形细胞增殖进行了诊断。几个月后,患者进行了重复的胸膜活检,结果显示多刺细胞具有更多的多形性,侵犯胸壁的区域,CDKN2A也有相同的部分丢失,与肉瘤样间皮瘤一致。该病例强调了小活检标本存在的挑战,事实上,肉瘤样间皮瘤可能相对平淡,出现局灶性多形性,CDKN2A的杂合缺失应被视为指示肿瘤过程的阳性结果。
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引用次数: 0
When Flow Is Turbulent: CD19 Intensity Is a Pitfall in Acute Leukemia Classification 当流动是湍流:CD19强度是急性白血病分类的一个缺陷
Pub Date : 2022-05-01 DOI: 10.1097/PCR.0000000000000502
M. Kallen, A. Emadi, V. Duong, M. Baer, Y. Ning, Z. Singh, R. Koka
Abstract Mixed phenotype acute leukemias (MPALs) are a rare category of acute leukemia with biologic and genetic heterogeneity and a prognosis generally inferior to those of single lineage leukemias. The diagnosis depends on immunophenotypic assessment with a comprehensive panel of monoclonal antibodies by multiparameter flow cytometry and lineage assignment by the World Health Organization criteria. CD19 assessment is required for establishing a B-cell component in MPALs, as is determination of its intensity of expression, and assessment of the additional B-cell markers CD79a, cytoplasmic CD22, and CD10. We report the case of an MPAL, initially classified as an acute myeloid leukemia with weak CD19 expression and later reclassified upon clear demonstration of a B-cell component; such cases highlight a pitfall in classification of acute leukemias, particularly given heterogeneous antigen expression between fluorochromes and subjectivity in judgment of intensity. Practical take-away points include the need for hypervigilance in marker performance patterns in flow cytometry, both between fluorochromes and over time, the benefits of repeat sampling and blast assessment between laboratories, and the potential quality improvements unlocked by expanded flow cytometry panels in diagnostic hematopathology.
摘要混合表型急性白血病(MPALs)是一种罕见的急性白血病类型,具有生物学和遗传异质性,预后通常不如单一谱系白血病。诊断依赖于免疫表型评估,通过多参数流式细胞术对单克隆抗体进行综合评估,并根据世界卫生组织标准进行谱系分配。要在MPALs中建立b细胞成分,需要评估CD19,确定其表达强度,以及评估其他b细胞标志物CD79a、细胞质CD22和CD10。我们报告一例MPAL,最初被归类为CD19弱表达的急性髓性白血病,后来在明确显示b细胞成分后重新分类;这些病例突出了急性白血病分类的一个缺陷,特别是考虑到荧光染料抗原表达的异质性和强度判断的主观性。实际的要点包括对流式细胞术中标记物表现模式的高度警惕,无论是在荧光染料之间还是随着时间的推移,实验室之间重复取样和母细胞评估的好处,以及在血液病理学诊断中扩大流式细胞术面板所释放的潜在质量改进。
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引用次数: 0
Malignant Cells in Urine Cytology: Not Always High-Grade Urothelial Carcinoma 尿细胞学中的恶性细胞:不总是高级别尿路上皮癌
Pub Date : 2022-05-01 DOI: 10.1097/PCR.0000000000000510
Lucy Jager, E. Morency, B. Choy
Abstract The main purpose of urine cytology is the detection of high-grade urothelial carcinoma (HGUC). When malignant cells of nonurothelial origin are present, it is often misdiagnosed as HGUC due to the rarity of this event and difficulty in distinguishing subtle cytomorphologic differences. To arrive at the appropriate diagnosis, evaluation of urine cytology specimens requires correlation with clinical and radiologic findings and utilization of cytologic-histologic correlation. We present the case of a 64-year-old woman with gross hematuria. Imaging located an infiltrative mass involving the left renal pelvis, highly suggestive of urothelial carcinoma. Lymphadenopathy and multiple bony lesions in the spine were concerning for metastatic disease. Urine cytology specimens taken during cystoscopy contained malignant cells, which were interpreted as HGUC. The workup of a subsequent lymph node biopsy showed a metastatic high grade carcinoma of renal origin with SMARCB1 loss. This finding led to the reexamination of the urine cytology specimens, revealing the malignant cells were not HGUC but rather renal carcinoma. This case highlights a potential pitfall in the evaluation of urine cytology and the importance of cytologic-histologic correlation.
尿细胞学检查的主要目的是检测高级别尿路上皮癌(HGUC)。当存在非尿路上皮来源的恶性细胞时,由于这种事件的罕见性和难以区分细微的细胞形态学差异,它经常被误诊为HGUC。为了得到适当的诊断,对尿液细胞学标本的评估需要与临床和放射学结果相结合,并利用细胞学和组织学的相关性。我们提出的情况下,64岁的妇女肉眼血尿。影像学发现浸润性肿块累及左肾盂,高度提示尿路上皮癌。淋巴结病和脊柱多发性骨性病变与转移性疾病有关。膀胱镜检查尿液细胞学标本含有恶性细胞,解释为HGUC。随后的淋巴结活检显示转移性肾源性高级别癌,伴有SMARCB1丢失。这一发现导致对尿液细胞学标本进行复查,发现恶性细胞不是HGUC,而是肾癌。这个病例强调了在评估尿液细胞学和细胞学-组织学相关性的重要性的潜在陷阱。
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引用次数: 0
Methylation Profiling Improves the Care of Pediatric Brain Tumor Patients 甲基化分析改善儿童脑肿瘤患者的护理
Pub Date : 2022-03-21 DOI: 10.1097/PCR.0000000000000493
Pouya Jamshidi, Matthew McCord, C. Horbinski, L. Jennings, Lucas Santana dos Santos, I. Fudyma, M. DeCuypere, K. Yap, P. Rathbun, Nitin R. Wadhwani
Abstract We describe a pediatric patient with an intra-axial tumor; histopathologic examination of the resected specimen was unable to establish a precise diagnosis. While the initial targeted next-generation sequencing (NGS) panel was also nondiagnostic, genomic DNA methylation profiling indicated that the tumor was an astroblastoma, MN1-altered. A more comprehensive NGS panel was then run, which confirmed an MN1-BEND2 fusion. This case displays the limitations and pitfalls of a histological and immunohistochemical-based diagnosis in a case of an infrequently encountered pediatric brain tumor. Furthermore, it highlights the growing need for performing DNA methylation, paired with a comprehensive NGS panel, to ensure an accurate diagnosis in modern surgical neuropathology.
摘要:我们描述了一个儿童患者轴内肿瘤;切除标本的组织病理学检查无法建立精确的诊断。虽然最初的目标下一代测序(NGS)小组也无法诊断,但基因组DNA甲基化分析表明肿瘤是一种星形母细胞瘤,mn1改变。然后进行更全面的NGS面板,确认MN1-BEND2融合。本病例显示了在罕见的儿童脑肿瘤病例中,基于组织学和免疫组织化学诊断的局限性和缺陷。此外,它强调了对进行DNA甲基化的日益增长的需求,并与全面的NGS面板配对,以确保现代外科神经病理学的准确诊断。
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引用次数: 1
Pleomorphic Carcinoid: A Pitfall in Diagnosis on Small Biopsy Specimens 多形性类癌:小活检标本诊断的一个缺陷
Pub Date : 2022-03-01 DOI: 10.1097/PCR.0000000000000494
Naomi L Hardy, J. Jacobs, Paul N. Staats, A. Burke, Kristen M. Stashek, Laura Malone
Abstract Typical and atypical carcinoids account for 2% of all pulmonary neoplasms and are usually diagnosed based on characteristic neuroendocrine granules, architecture, and overall bland cytomorphology. However, there are rare carcinoids with unusual morphology mimicking features seen in non–small cell lung carcinoma, which can be a significant challenge on small biopsy or cytology specimens with major therapeutic implications. We report a case of a transbronchial needle aspirate that was initially misinterpreted as non–small cell lung carcinoma due to the presence of cohesive clusters of tumor cells showing striking pleomorphism and prominent nucleoli in a background of necrosis. In addition, tumor cells showed multifocal brown cytoplasmic melanin pigment that has rarely been reported in carcinoids. The diagnostic pitfalls of a pleomorphic carcinoid and the possible limitations of reaching this diagnosis on small biopsy specimens are discussed.
典型和非典型类癌占所有肺肿瘤的2%,通常根据特征性神经内分泌颗粒、结构和整体平淡的细胞形态学进行诊断。然而,在非小细胞肺癌中,有罕见的类癌具有不寻常的形态模仿特征,这可能是对小活检或细胞学标本的重大挑战,具有重要的治疗意义。我们报告一例经支气管穿刺吸痰,最初被误诊为非小细胞肺癌,因为在坏死背景下,肿瘤细胞聚集在一起,表现出明显的多形性和突出的核核。此外,肿瘤细胞显示多灶性的棕色细胞质黑色素,这在类癌中很少报道。本文讨论了多形性类癌的诊断缺陷和在小活检标本上进行诊断的可能局限性。
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引用次数: 0
High-Grade Ovarian Epithelial Tumor and Intraoperative Frozen Section: Consequences of a Discordant Diagnosis 高级别卵巢上皮肿瘤和术中冷冻切片:诊断不一致的后果
Pub Date : 2022-03-01 DOI: 10.1097/PCR.0000000000000495
C. Felicelli, Luis Z. Blanco
Abstract Ovarian neoplasms are a common specimen received for intraoperative consultation (frozen section) as an accurate diagnosis is necessary to determine the next steps in surgery. We present the case of a 79-year-old woman with a 5.3-cm right ovarian lesion as well as a large appendiceal mass. The frozen section of the ovarian lesion showed a high-grade tumor with areas of luminal necrosis. These morphologic findings, along with the presence of a colonic mass, led to an intraoperative consultation diagnosis of “high grade adenocarcinoma, favor metastasis from gastrointestinal tract primary,” and to the surgery ending after removal of the appendix and cecum. However, the permanent section revealed high-grade serous carcinoma. We review the differential diagnosis of high-grade ovarian lesions on frozen section, examine the challenges that can occur, and discuss the potential downstream effects and consequences for patient care.
卵巢肿瘤是术中常见的标本(冷冻切片),因为准确的诊断对于确定手术的下一步是必要的。我们提出的情况下,79岁的妇女5.3厘米的右卵巢病变,以及一个大的阑尾肿块。卵巢病变的冰冻切片显示高级别肿瘤伴腔内坏死。这些形态学发现,加上结肠肿块的存在,导致术中会诊诊断为“高级别腺癌,倾向于胃肠道原发转移”,并在切除阑尾和盲肠后结束手术。然而,永久性切片显示高级别浆液性癌。我们回顾了卵巢冷冻切片高度病变的鉴别诊断,检查可能发生的挑战,并讨论了潜在的下游影响和患者护理的后果。
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引用次数: 0
Low-Grade Oncocytic Renal Tumor With Massive Liver Metastasis: Do Not Trust a Negative CK7 and Misdiagnose Oncocytoma: A Cautionary Tale and Current Classification of Oncocytic Renal Tumors 低级别嗜瘤性肾肿瘤伴大量肝转移:不要相信CK7阴性和误诊嗜瘤性肾肿瘤:嗜瘤性肾肿瘤的警示和当前分类
Pub Date : 2022-03-01 DOI: 10.1097/PCR.0000000000000491
A. Burke, T. Legesse, A. Paulk
Abstract We report a renal tumor originally diagnosed as oncocytoma that recurred with biopsy-proven multiple liver metastases. Review of the initial tumor revealed a predominantly CK7-negative neoplasm that had areas resembling oncocytoma, areas resembling eosinophilic chromophobe renal cell carcinoma, and areas with intermediate features. The case illustrates that the distinction between eosinophilic chromophobe renal cell carcinoma and “oncocytic tumor of uncertain malignant potential” is in some cases subjective. Criteria need better definition and should not be based on cytokeratin 7 staining pattern alone. A discussion of the current classification of oncocytic renal tumors is included, as well as a discussion of the differential diagnosis of renal neoplasms with eosinophilic cytoplasm.
摘要我们报告一例肾肿瘤,最初诊断为嗜瘤细胞瘤,经活检证实多发性肝转移复发。最初的肿瘤复查显示主要是ck7阴性的肿瘤,有类似嗜酸性细胞瘤的区域,类似嗜酸性憎色肾细胞癌的区域,以及具有中间特征的区域。该病例说明嗜酸性憎色性肾细胞癌与“恶性潜能不确定的嗜酸细胞瘤”之间的区别在某些情况下是主观的。标准需要更好的定义,不应仅基于细胞角蛋白7染色模式。本文讨论了嗜酸性细胞性肾肿瘤的分类,并讨论了嗜酸性细胞质肾肿瘤的鉴别诊断。
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引用次数: 0
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