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Evaluation of a Limited Number of Histologic Levels in Prostate Needle Core Biopsies: Do Clinically Significant Cancer Parameters Go Undetected? 评估前列腺穿刺活检有限数量的组织学水平:是否有临床意义的癌症参数未被检测到?
IF 1 4区 医学 Q4 PATHOLOGY Pub Date : 2025-12-16 DOI: 10.1177/10668969251391822
Rosemary Mattaino, Valerie Cortright, Agnes Balla, Masatoshi Kida, Abiy Ambaye, John M Kennedy

IntroductionIn the era of increasing prostate needle core biopsy (PNCB) burden with extended core and MRI-guided biopsies, recommendations are limited on how many histologic levels are needed to identify prostate cancer parameters. Many institutions, including ours, have utilized up to 6 levels. Our quality improvement study evaluates undetected prostate cancer parameters and cost/time savings when reducing to 3 levels.MethodsFifty-eight PNCB series (204 individual PNCB) with prostate cancer were identified from 74 consecutive series (614 individual PNCB). Six levels placed on 2 slides were reviewed. Detection of prostate cancer, secondary Gleason patterns, extraprostatic extension, perineural invasion, and atypical small acinar proliferation (ASAP) were compared between the original 6 levels and a simulated reduction to 3 levels using 3 methods: 1) 3-level spanning most of the tissue block, 2) 3-level spanning the superficial block, and 3) 3-level spanning the deep block. Laboratory costs and microtomy/embedding time data were analyzed to determine savings following change to a 3-level protocol.ResultsThe simulated 3-level method spanning most of the block identified all cancer foci and parameters originally detected with 6 levels, except one focus of ASAP (N = 13). Small cancer foci (< 1 mm) and associated parameters were occasionally undetected when only 3 superficial or deep levels were reviewed. Switching to a 3-level cutting protocol saved $9134 over 6 months and reduced microtomy/embedding time by 9.7 min per 12-part PNCB series.ConclusionAt our institution, evaluating 3 levels spanning most of the block conserves resources while adequately detecting prostate cancer parameters.

在前列腺穿刺活检(PNCB)负担增加的时代,扩展核和mri引导下的活检,在确定前列腺癌参数需要多少组织学水平上的建议是有限的。包括我们在内的许多机构已经使用了多达6个级别。我们的质量改进研究评估了未被发现的前列腺癌参数和降低到3级时节省的成本/时间。方法从连续74个PNCB系列(614例)中筛选出58个PNCB系列(204例)前列腺癌患者。检查了2张幻灯片上的6个级别。采用3种方法,1)3个水平跨越大部分组织块,2)3个水平跨越浅表块,3)3个水平跨越深部块,比较原始6个水平和模拟减少到3个水平对前列腺癌、继发性Gleason模式、前列腺外展、神经周围浸润和非典型小腺泡增生(ASAP)的检测。分析了实验室成本和显微切开术/嵌入时间数据,以确定更改为三级协议后的节省。结果模拟3级方法跨越了大部分区域,除1个ASAP病灶(N = 13)外,其余6级肿瘤病灶及参数均被识别。当仅检查3个浅表或深部水平时,有时未发现小癌灶(< 1mm)和相关参数。切换到3级切割方案在6个月内节省了9134美元,并将每12部分PNCB系列的显微切开术/嵌入时间缩短了9.7分钟。结论在我院,在充分检测前列腺癌参数的同时,对大部分区域的3个水平进行评估可以节约资源。
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引用次数: 0
Radiation-Induced Epithelioid Angiosarcoma of the Urinary Bladder Mimicking Sarcomatoid Carcinoma: A Rare Entity and Literature Review. 辐射诱发的膀胱上皮样血管肉瘤:一种罕见的实体并文献回顾。
IF 1 4区 医学 Q4 PATHOLOGY Pub Date : 2025-12-15 DOI: 10.1177/10668969251404487
Akansha Deshwal, Himani Kumar, Anam Khan, Anil Parwani

Epithelioid angiosarcoma of the bladder is an exceptionally rare and aggressive vascular malignancy, characterized by a poor prognosis due to its high propensity for invasion and metastasis. Due to its rarity, the diagnosis is often challenging and may be misinterpreted as other high-grade malignancies. Patients commonly present with advanced-stage disease, including muscle invasion at the time of diagnosis, leading to unfavorable clinical outcomes. We report a 73-year-old male patient with a history of metastatic colon cancer (to the cervical lymph node) who presented with gross hematuria. Imaging and cystoscopy evaluation revealed a mobile bladder mass with possible right anterior bladder wall thickening and necrotic tissue. Transurethral resection of the bladder tumor performed outside was initially interpreted as muscle-invasive poorly differentiated carcinoma with sarcomatoid differentiation. Upon reviewing the slides at our institution, the diagnosis was revised to epithelioid angiosarcoma of the bladder. Despite an aggressive multimodal therapeutic approach, including chemotherapy and radical prostatectomy, the patient's clinical condition progressively worsened, ultimately leading to mortality 11 months post-diagnosis. This case report highlights the diagnostic challenges and aggressive nature of epithelioid angiosarcoma of the bladder, emphasizing the need for early detection and exploration of novel therapeutic strategies to improve patient outcomes.

膀胱上皮样血管肉瘤是一种非常罕见的侵袭性血管恶性肿瘤,其特点是由于其侵袭和转移的高倾向而预后不良。由于其罕见,诊断往往具有挑战性,并可能被误解为其他高级别恶性肿瘤。患者通常在诊断时表现为晚期疾病,包括肌肉侵犯,导致不利的临床结果。我们报告一位73岁男性患者,有转移性结肠癌(转移到颈部淋巴结)病史,表现为肉眼血尿。影像检查及膀胱镜检查显示一可移动膀胱肿块,可能伴右前膀胱壁增厚及坏死组织。经尿道膀胱肿瘤切除术最初被解释为肌肉侵袭性低分化癌伴肉瘤样分化。在我们医院复查了载玻片后,诊断修改为膀胱上皮样血管肉瘤。尽管采用了积极的多模式治疗方法,包括化疗和根治性前列腺切除术,但患者的临床状况逐渐恶化,最终导致诊断后11个月死亡。本病例报告强调了膀胱上皮样血管肉瘤的诊断挑战和侵袭性,强调了早期发现和探索新的治疗策略以改善患者预后的必要性。
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引用次数: 0
Anal Phyllodes Tumor in a Man: An Exceptionally Rare Case Report and Literature Review. 男性肛门叶状瘤1例:罕见病例报告及文献复习。
IF 1 4区 医学 Q4 PATHOLOGY Pub Date : 2025-12-15 DOI: 10.1177/10668969251397646
Hui-Wen Chang, Yun-An Chen, Liang-Chi Chen, Yun-Shan Lin, John Wang, Che-Chi Liao

Phyllodes tumors are fibroepithelial neoplasms most commonly found in the breast, and their occurrence in the anogenital region-especially in male patients-is exceedingly rare. We describe a man who presented with a localized mass in the anal region. The lesion was excised, and gross examination revealed the characteristic leaf-like clefts typical of phyllodes tumors. Histopathological analysis demonstrated a biphasic morphology, composed of epithelial and stromal components. Immunohistochemical staining showed positivity for estrogen receptor, GATA3, and mammaglobin in the epithelial component, while the stromal component was positive for CD34. This rare tumor highlights that phyllodes tumors can occur in the anogenital region of men and emphasizes the importance of distinguishing them from other anal tumors. Long-term follow-up is recommended after resection.

叶状瘤是一种纤维上皮肿瘤,最常见于乳腺,其发生在肛门生殖器区域,尤其是男性患者,是非常罕见的。我们描述了一个男人谁提出了一个局部肿块在肛门区域。病变被切除,大体检查显示叶状肿瘤典型的叶状裂隙。组织病理学分析显示为双相形态,由上皮和基质成分组成。免疫组化染色显示上皮成分雌激素受体、GATA3、mammaglobin阳性,基质成分CD34阳性。这种罕见的肿瘤强调了叶状肿瘤可以发生在男性的肛门生殖器区域,并强调了将其与其他肛门肿瘤区分开来的重要性。建议术后长期随访。
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引用次数: 0
Florid Pseudosarcomatous Polypoid Fibroplasia: An Unusual Cutaneous Manifestation of Chronic Lymphedema. 花状假肉瘤性息肉样纤维增生:慢性淋巴水肿的一种不寻常的皮肤表现。
IF 1 4区 医学 Q4 PATHOLOGY Pub Date : 2025-12-15 DOI: 10.1177/10668969251399912
Alexander N Perez, Jonathan L Curry, John E Madewell, Jeanne M Meis

Bizarre, reactive fibroblastic proliferations associated with localized lymphedema may arise with chronic condom catheter use. We report a unique presentation of innumerable, cutaneous nodules occurring in chronic lymphedema of the right lower extremity due to remote pelvic lymph node dissection and radiation therapy for squamous carcinoma of the uterine cervix. Histologically, the cutaneous nodules consisted of several bizarre, enlarged polygonal to stellate, multinucleated fibroblasts having variably vacuolated cytoplasm in a background of markedly edematous dermis with prominent vascular ectasia. Nuclear hyperchromasia, scattered mitotic figures and pleomorphism in the context of chronic lymphedema led to an original diagnosis of malignancy. However, on histologic re-review, close correlation with imaging studies revealed complete continuity of massive subcutaneous lymphedema with the overlying skin nodules. The presence of diffuse reactive changes of edema and ectasia associated with multinucleated fibroblasts enables recognition of this pseudosarcomatous lesion. To our knowledge, this is the first report of extreme, multiple, cutaneous polypoid lesions comprising bizarre fibroblasts that simulate sarcoma and occur in the setting of chronic lymphedema. Awareness of this entity is critical, as it is easily misdiagnosed as sarcoma complicating lymphedema. We propose the descriptive term florid pseudosarcomatous polypoid fibroplasia for such extreme lesions.

奇怪的,反应性纤维母细胞增生与局部淋巴水肿可能出现与长期使用避孕套导管。我们报告一个独特的表现,无数的皮肤结节发生在慢性淋巴水肿的右下肢由于远盆腔淋巴结清扫和放射治疗的宫颈鳞状癌。组织学上,皮肤结节由几个奇怪的、增大的多角形到星状的多核成纤维细胞组成,细胞浆呈不同的空泡状,真皮明显水肿,血管明显扩张。在慢性淋巴水肿的背景下,核色素增多,分散的有丝分裂象和多形性导致最初的恶性诊断。然而,在组织学复查中,与影像学密切相关的研究显示大量皮下淋巴水肿与覆盖的皮肤结节完全连续性。与多核成纤维细胞相关的弥漫性反应性水肿和扩张的存在使这种假肉瘤病变得以识别。据我们所知,这是第一个报告极端,多发性,皮肤息肉样病变,包括奇怪的成纤维细胞,模拟肉瘤,发生在慢性淋巴水肿的设置。意识到这个实体是至关重要的,因为它很容易误诊为肉瘤合并淋巴水肿。我们建议将这种极端病变称为“华丽性假肉瘤性息肉样纤维增生”。
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引用次数: 0
Comparative Analysis of Endoscopic Ultrasound-Guided Fine Needle Liver Biopsy with Percutaneous and Transjugular Liver Biopsy: Emphasis on Morphologic Analysis. 超声内镜引导下细针肝活检与经皮、经颈静脉肝活检的比较分析:重点是形态学分析。
IF 1 4区 医学 Q4 PATHOLOGY Pub Date : 2025-12-12 DOI: 10.1177/10668969251401248
Zhengfan Xu, Brian K Theisen, Reena Salgia, Andrew Watson, Qing Chang, Beena U Ahsan

The use of endoscopic ultrasound-guided fine needle liver biopsy (EUS-FNLB) has been rising. However, limited data are available comparing the quality of biopsy specimens obtained via EUS-FNLB with those from traditional methods, such as percutaneous liver biopsy (PC-LB) and transjugular liver biopsy (TJ-LB). We sought to assess the microscopic quality of liver biopsy specimens obtained through EUS-FNLB compared to PC-LB and TJ-LB.A retrospective, cross-sectional study was conducted on liver biopsy specimens collected via EUS-FNLB, PC-LB, and TJ-LB at our institution between April 2022 and August 2024. Demographic, clinical, and histopathologic data were extracted from medical records and pathology reports. Specimen quality was assessed using the American Association for the Study of Liver Diseases criteria for adequate biopsy length and portal tract count (≥2 cm and ≥11 portal tracts), as well as the presence of fragmentation and the overall tissue yield.A total of 160 patients were included, with 85 EUS-FNLB, 50 PC-LB, and 25 TJ-LB. EUS-FNLB demonstrated the greatest median aggregate length (3.5 cm) and the highest median number of complete portal tracts (CPT) (18 CPT) compared to PC-LB (1.9 cm; 13 CPT) and TJ-LB (2.4 cm; 12 CPT). Although EUS-FNLB showed the highest rate of tissue fragmentation (62%), this approach still led to an adequate diagnosis in 99% of patients.EUS-FNLB may provide superior specimen quality in terms of aggregate length and CPT count compared to PC-LB and TJ-LB, although it results in a higher degree of tissue fragmentation.

超声内镜引导下细针肝活检(EUS-FNLB)的应用越来越多。然而,通过EUS-FNLB获得的活检标本质量与传统方法(如经皮肝活检(PC-LB)和经颈静脉肝活检(TJ-LB))的比较数据有限。我们试图与PC-LB和TJ-LB相比,评估通过EUS-FNLB获得的肝活检标本的显微质量。对2022年4月至2024年8月在我院通过EUS-FNLB、PC-LB和TJ-LB采集的肝活检标本进行回顾性横断面研究。从医疗记录和病理报告中提取人口统计学、临床和组织病理学数据。标本质量采用美国肝病研究协会的标准进行评估,以确定足够的活检长度和门静脉束计数(≥2 cm和≥11个门静脉束),以及是否存在碎裂和总体组织产量。共纳入160例患者,其中EUS-FNLB 85例,PC-LB 50例,TJ-LB 25例。与PC-LB (1.9 cm, 13 CPT)和TJ-LB (2.4 cm, 12 CPT)相比,EUS-FNLB表现出最大的中位聚集长度(3.5 cm)和最多的中位门静脉束(CPT) (18 CPT)。尽管EUS-FNLB显示出最高的组织碎裂率(62%),但该方法仍能在99%的患者中获得充分的诊断。与PC-LB和TJ-LB相比,EUS-FNLB在聚集长度和CPT计数方面可能提供更好的标本质量,尽管它会导致更高程度的组织碎裂。
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引用次数: 0
A Rare BCOR-ITD Musculoskeletal Sarcoma in an Adult Male Patient. 一例罕见的成年男性BCOR-ITD肌肉骨骼肉瘤。
IF 1 4区 医学 Q4 PATHOLOGY Pub Date : 2025-12-12 DOI: 10.1177/10668969251397645
Bharat Rekhi, Prachi Bapat, Mamta Gurav, Omshree Shetty

Tumors characterized by BCOR abnormalities occur in diverse body sites and rarely in the bone and soft tissues, in the form of BCOR::CCNB3 sarcomas and BCOR-ITD sarcomas, mostly in the pediatric patients. A 35-year-old male patient presented with pain in his right thigh and fullness in his right abdomen. Radiological imaging disclosed a large mass lesion measuring 7 cm × 8.4 cm × 12.3 cm in the right lower abdomen, involving the iliac bone and adjacent muscles. Histopathological examination of the biopsy revealed a tumor comprising oval to spindle cells arranged in interlacing fascicles and focal palisades with interspersed mitotic figures and distinct areas of fibromyxoid stroma exhibiting focal hyalinization in some places. By immunohistochemistry, the tumor cells were diffusely, intensely positive for BCOR, significantly positive for cyclin D1, weakly and patchily for TLE1, and also for SATB2. Furthermore, fluorescence in-situ hybridization for BCOR rearrangement revealed negative results, while comprehensive genetic testing, as well as Sanger sequencing, revealed BCOR-ITD exon 15 mutation (inframe_90). This constitutes an extremely rare BCOR-ITD sarcoma, in an adult male patient. The various differential diagnoses and the value of high-throughput molecular testing to uncover these rare tumors are discussed herewith.

以BCOR异常为特征的肿瘤可发生在不同的身体部位,很少发生在骨骼和软组织中,以BCOR::CCNB3肉瘤和BCOR- itd肉瘤的形式出现,多见于儿科患者。男,35岁,主诉右大腿疼痛,右腹部充盈。影像学显示右下腹7 cm × 8.4 cm × 12.3 cm大肿块,累及髂骨及邻近肌肉。组织病理学检查显示,肿瘤由卵圆形至梭形细胞组成,排列在交错的束状和局灶性栅栏中,伴有丝分裂象和明显的纤维黏液样间质区域,在某些地方表现出局灶性透明化。免疫组化结果显示,BCOR呈弥漫性强阳性,cyclin D1呈显著阳性,TLE1呈弱片状阳性,SATB2呈微弱阳性。此外,BCOR重排的荧光原位杂交结果为阴性,而综合基因检测和Sanger测序显示BCOR- itd外显子15突变(inframe_90)。这是一例极其罕见的成年男性BCOR-ITD肉瘤。现就各种不同的鉴别诊断及高通量分子检测在发现这些罕见肿瘤中的价值作一讨论。
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引用次数: 0
Diagnostic Significance of Fruiting Bodies in Pathology Specimens: A Series of 13 Patients. 13例病理标本子实体的诊断意义。
IF 1 4区 医学 Q4 PATHOLOGY Pub Date : 2025-12-12 DOI: 10.1177/10668969251391356
Jacob Rattin, Anisha Misra, Maria Luisa C Policarpio-Nicolas, Sanjay Mukhopadhyay

In pathology (surgical pathology/cytopathology) specimens, Aspergillus species can be challenging to differentiate from other fungi that produce hyaline septate hyphae by morphology alone. It has been suggested that fruiting bodies-if present-indicate Aspergillus. The aim of this study was to determine whether the presence of fruiting bodies in pathology specimens is specific for Aspergillus. Specimens containing fungal hyphae with fruiting bodies were identified and fungal culture and PCR results were reviewed to determine the identity of the fungi. To determine whether fruiting bodies can be formed in tissue by other fungi, non-Aspergillus fungi were included for analysis if cultures or PCR confirmed a non-Aspergillus fungus. Fruiting bodies were present in specimens from 13 patients (12 surgical pathology, 1 cytology). In 11/13, the identity of the fungus was confirmed (10 Aspergillus fumigatus, 1 Rhizopus species). In 6/13, A. fumigatus was confirmed by microbiologic cultures. In 4/13, A. fumigatus was confirmed by PCR on formalin-fixed paraffin-embedded tissue. In 2/13 specimens, cultures/PCR were not performed. The one Rhizopus sp. was confirmed by culture. In most (10/13) specimens, fruiting bodies of Aspergillus consisted of yellow vesicles containing a row of radiating phialides, occasional stalks/conidiophores and detached yellow conidia (spores) in the background. In contrast, fruiting bodies of the Rhizopus sp. were sporangia (large spore-containing sacs) lacking phialides. To evaluate fruiting bodies in non-Aspergillus fungi, 18 specimens were identified with hyphal structures in tissue with available microbiologic culture or PCR results. No fruiting bodies were identified in the 18 non-Aspergillus fungal infections (11 Fusarium, 6 Mucorales order genera, 1 Acrophialophora). In pathology specimens, fruiting bodies with the morphologic features described in this study (conidiophores with yellow-brown vesicles, attached phialides, detached yellow conidia) are specific for Aspergillus and can be differentiated from Rhizopus, whose fruiting bodies feature sporangia (large spore-containing sacs lacking phialides).

在病理学(外科病理学/细胞病理学)标本中,曲霉种类可能难以从形态学上与其他产生透明分隔菌丝的真菌区分开来。有人认为子实体——如果存在的话——表明是曲霉。本研究的目的是确定病理标本中子实体的存在是否是曲霉特有的。鉴定了含有菌丝和子实体的真菌标本,并对真菌培养和PCR结果进行了回顾,以确定真菌的身份。为了确定其他真菌是否可以在组织中形成子实体,如果培养或PCR证实非曲霉真菌,则包括非曲霉真菌进行分析。13例患者(12例手术病理,1例细胞学)标本中存在子实体。2013年11月,真菌鉴定得到证实(10种烟曲霉,1种根霉)。2013年6月,经微生物培养证实烟曲霉属。4/13,用PCR方法在福尔马林固定石蜡包埋组织中检测到烟螨。在2/13个标本中,未进行培养/PCR。经培养证实为根霉属。在大多数(10/13)样品中,曲霉的子实体由黄色的囊泡组成,其中包含一排放射状的小柱,偶尔有茎/分生孢子,背景中有分离的黄色分生孢子(孢子)。相比之下,根霉属的子实体是孢子囊(含孢子的大囊),没有雌蕊。为了评价非曲霉真菌的子实体,利用微生物培养或PCR结果鉴定了18个标本组织中的菌丝结构。18例非曲霉真菌感染中未发现子实体(镰刀菌11例,Mucorales目属6例,Acrophialophora目1例)。在病理标本中,具有本研究所描述的形态特征的子实体(带有黄棕色囊泡的分生孢子,附着的分生孢子,分离的黄色分生孢子)是曲霉所特有的,可以与根霉区分开来,根霉的子实体具有孢子囊(含孢子的大囊,没有包孢)。
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引用次数: 0
Nonsebaceous Lymphadenoma-like Mucoepidermoid Carcinoma: A Rare Case Report. 非皮脂腺淋巴结样黏液表皮样癌1例报告。
IF 1 4区 医学 Q4 PATHOLOGY Pub Date : 2025-12-12 DOI: 10.1177/10668969251397643
Julin Liu, Yan Ma, Jiling Zeng, Yan Guo, Dengfeng Cao

Nonsebaceous lymphadenoma-like mucoepidermoid carcinoma (NSLA-like MEC) is an exceedingly rare subtype of MEC. We present such a tumor in a 65-year-old woman with a 2-year history of a left parotid mass. Histologically, the tumor was characterized by a proliferation of neoplastic epithelial cells within a prominent lymphoid stroma containing germinal centers. The epithelial component displayed a bilayered or multitiered growth pattern composed of inner cuboidal cells and outer basaloid cells, forming tubules, microcysts, and complex glandular and cribriform structures. Immunohistochemically, the outer basaloid cells were positive for P63 but were negative for S100 and SMA, while the inner cuboidal cells were positive for keratin 7. Mucicarmine stain demonstrated intracytoplasmic mucin in a small percentage (<1%) of epithelial cells. Fluorescence in situ hybridization analysis revealed CRTC1::MAML2 fusion in 78% of tumor cells, confirming the diagnosis of MEC. The morphological distinction between NSLA-like MEC and NSLA poses a significant diagnostic challenge. Features suggestive of MEC include complex branched glandular structures and subtle cytologic atypia. We emphasize the importance of incorporating MAML2 molecular testing into diagnostic algorithms for accurate classification, particularly in challenging lesions with lymphoid-rich stroma.

非皮脂腺淋巴结样黏液表皮样癌(nsa -like MEC)是一种极为罕见的MEC亚型。我们报告一个65岁的女性,有2年的左腮腺肿块病史。组织学上,肿瘤的特征是肿瘤上皮细胞在含有生发中心的突出淋巴样基质内增殖。上皮成分呈双层或多层生长模式,由内立方细胞和外基底细胞组成,形成小管、微囊以及复杂的腺状和筛网状结构。免疫组化结果显示,外基底细胞P63阳性,S100和SMA阴性,内立方细胞角蛋白7阳性。黏液氨基染色显示细胞质内黏液蛋白占很小比例(原位杂交分析显示78%的肿瘤细胞中有CRTC1::MAML2融合,证实了MEC的诊断。NSLA样MEC和NSLA之间的形态学区别提出了重大的诊断挑战。提示MEC的特征包括复杂的分枝腺结构和细微的细胞学非典型性。我们强调将MAML2分子检测纳入准确分类的诊断算法的重要性,特别是在具有富淋巴细胞基质的挑战性病变中。
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引用次数: 0
The TTF-1 and Napsin A Trap: Metastatic Endometrial Carcinoma Masquerading as Lung Primary. TTF-1和Napsin A陷阱:转移性子宫内膜癌伪装成肺原发癌。
IF 1 4区 医学 Q4 PATHOLOGY Pub Date : 2025-12-11 DOI: 10.1177/10668969251403167
Carmen Alfonso-Rosa, Jesús Machuca-Aguado, Ana María Montaña-Ramírez, Francisco Javier Rubio-Garrido
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引用次数: 0
Successful Treatment With Neoadjuvant Chemo-Immunotherapy for Thoracic SMARCA4-Deficient Undifferentiated Tumor: A Patient Report and Literature Review. 新辅助化疗-免疫治疗胸部smarca4缺陷未分化肿瘤的成功治疗:一份患者报告和文献综述。
IF 1 4区 医学 Q4 PATHOLOGY Pub Date : 2025-12-09 DOI: 10.1177/10668969251393265
Linlin Qu, Jiting Di, Yan Xiong, Ligong Nie, Shikai Wu, Hu Zhao, Lan Mi, Suxia Wang

BackgroundThoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare neoplastic entity classified in the 2021 World Health Organization Classification of Thoracic Tumors. Due to its rarity, challenges remain in achieving accurate diagnosis, determining optimal therapeutic strategies, and assessing prognosis.Patient PresentationAn elderly heavy smoker was admitted due to the rapid growth of a solid tumor in the right lower lobe. Histopathological examination revealed undifferentiated, epithelioid morphology. Immunohistochemistry demonstrated diffuse positivity for SOX2, alongside loss of expression of brahma-related gene 1 (BRG1) and brahma (BRM). Next-generation sequencing identified a nonsense mutation in SMARCA4 (c.2196T > G, p.Y732Ter), with wild-type status for SMARCA2. The tumor was staged as T1N2M0 (stage IIIA), exhibiting a programmed death-ligand 1 tumor proportion score of 2%, a tumor mutational burden of 16.3 mutations per megabase (Mb), and microsatellite stability. The patient received neoadjuvant chemo-immunotherapy followed by right lower lobectomy, resulting in a complete pathological response with ypT0N0Mx status. Subsequently, 5 cycles of adjuvant chemo-immunotherapy were administered. Throughout a 38-month follow-up period, neither computed tomography imaging nor minimal residual disease assessments indicated evidence of recurrence or metastasis.ConclusionThe diagnosis of SMARCA4-UT requires the co-loss of BRG1 and BRM expression, characteristic histological features, and the exclusion of other SMARCA4-deficient thoracic malignancies. This tumor exhibits aggressive clinical behavior, limited availability of targeted therapeutic options, and only modest responses to conventional chemotherapy. The present report underscores the potential efficacy of immune checkpoint inhibitors as a viable treatment modality for SMARCA4-UT.

背景:胸椎smarca4缺陷未分化肿瘤(SMARCA4-UT)是2021年世界卫生组织胸椎肿瘤分类中罕见的肿瘤实体。由于其罕见性,在实现准确诊断,确定最佳治疗策略和评估预后方面仍然存在挑战。患者介绍:一位老年重度吸烟者因右下叶快速生长的实体瘤而入院。组织病理学检查显示未分化的上皮样形态。免疫组化显示SOX2弥漫阳性,同时brahma相关基因1 (BRG1)和brahma (BRM)表达缺失。下一代测序鉴定出SMARCA4无义突变(c.2196T > G, p.Y732Ter), SMARCA2具有野生型状态。肿瘤分期为T1N2M0期(IIIA期),程序性死亡-配体1肿瘤比例评分为2%,肿瘤突变负荷为16.3个突变/兆基(Mb),微卫星稳定性。患者接受新辅助化疗免疫治疗后右下肺叶切除术,病理完全缓解,ypT0N0Mx状态。随后给予5个周期的辅助化疗免疫治疗。在38个月的随访期间,计算机断层成像和最小残留疾病评估均未显示复发或转移的证据。结论SMARCA4-UT的诊断需要BRG1和BRM的共同表达缺失,组织学特征特征性,并排除其他缺乏smarca4的胸部恶性肿瘤。这种肿瘤表现出侵袭性的临床行为,靶向治疗选择的可用性有限,对常规化疗的反应有限。本报告强调了免疫检查点抑制剂作为一种可行的SMARCA4-UT治疗方式的潜在疗效。
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引用次数: 0
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International Journal of Surgical Pathology
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