Human pathology最新文献_第3页

Primary pulmonary Langerhans cell histiocytosis: comprehensive clinicopathologic and molecular genetic analysis of 13 cases 原发性肺朗格汉斯细胞组织细胞增多症13例临床病理及分子遗传学综合分析。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2026-01-13 DOI: 10.1016/j.humpath.2026.106034

Yanping Zhang M.S., Enjie Liu Ph.D., Minglei Yang Ph.D., Guannan Wang Ph.D., Wugan Zhao Ph.D., Wencai Li Ph.D., Shenglei Li Ph.D.

Primary pulmonary Langerhans cell histiocytosis (PLCH) is a rare entity. To characterize its clinicopathological and molecular features, 13 cases (15 specimens) were retrospectively analyzed, incorporating clinical information, imaging findings, histopathological features, immunohistochemical results, BRAFV600E mutation status, and DNA-based next-generation sequencing data. The patients ranged in age from 17 to 59 years (mean, 30 years), with a male-to-female ratio of 12:1; all male patients were smokers. Computed tomography demonstrated multiple pulmonary cysts in 12 cases, including pneumothorax in 3 cases, and a solitary nodular mass in 1 case. Histologically, 11 cases exhibited classic morphological features, whereas two small biopsy specimens showed subtle nuclear grooves and sparse background eosinophils, leading to an initial misdiagnosis of reactive lesions. Immunohistochemical analysis confirmed expression of S-100 (15/15), CD1a (15/15), Langerin (15/15), and cyclin D1 (3/3) in all cases. BRAFV600E mutation analysis was positive in one of four tested cases. Next-generation sequencing performed in six cases (seven lesions) revealed a non-frameshift BRAF deletion in one case, concurrent MAP2K1 and DUSP4 missense mutations in one case, an isolated DUSP4 missense mutation in one case, and RRAS mutations in two separate specimens from one patient. Four cases exhibited abnormalities in genes associated with DNA damage repair. Additional alterations involved multiple other signaling pathways, as well as abnormalities in hematopoietic regulation, epigenetic modulation, and related molecules. At a median follow-up of 23 months, all twelve patients were alive, although one patient developed extrapulmonary lesions. In conclusion, PLCH predominantly affects adult smokers, shows a marked male predominance, and generally carries a favorable prognosis. In cases with atypical morphology, immunohistochemical and molecular analyses should be integrated with characteristic imaging findings to avoid misdiagnosis. Furthermore, this study provides additional insights into the molecular pathogenesis of PLCH.

摘要原发性肺朗格汉斯细胞组织细胞增多症（PLCH）是一种罕见的疾病。为了明确其临床病理和分子特征，我们回顾性分析了13例（15例标本）的临床资料、影像学表现、组织病理特征、免疫组织化学结果、BRAFV600E突变状态以及基于dna的下一代测序数据。患者年龄17 ~ 59岁（平均30岁），男女比例为12:1；所有男性患者均为吸烟者。计算机断层扫描显示多发肺囊肿12例，其中气胸3例，单发结节性肿块1例。组织学上，11例表现出典型的形态学特征，而2例小活检标本显示细微的核沟和稀疏的背景嗜酸性粒细胞，导致最初误诊为反应性病变。免疫组化分析证实所有病例均表达S-100（15/15）、CD1a（15/15）、Langerin（15/15）和cyclin D1（3/3）。4例检测病例中有1例BRAFV600E突变分析呈阳性。对6例（7个病变）进行的下一代测序显示，1例出现非移码BRAF缺失，1例同时出现MAP2K1和DUSP4错义突变，1例出现分离的DUSP4错义突变，1例出现RRAS突变。4例患者表现出与DNA损伤修复相关的基因异常。额外的改变涉及多种其他信号通路，以及造血调节、表观遗传调节和相关分子的异常。在中位23个月的随访中，所有12例患者都存活，尽管有1例患者出现肺外病变。综上所述，PLCH主要发生于成年吸烟者，且以男性为主，预后良好。对于形态学不典型的病例，应将免疫组织化学和分子分析与影像学特征相结合，以避免误诊。此外，本研究为PLCH的分子发病机制提供了额外的见解。

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引用次数: 0

Consideration of the natural history of BCL2-positive follicular lymphoma: based on tumor site, histological grade, and histological transformation rate 考虑bcl2阳性滤泡性淋巴瘤的自然史：基于肿瘤部位、组织学分级和组织学转化率。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2026-01-13 DOI: 10.1016/j.humpath.2026.106048

Akiko Miyagi Maeshima , Yuto Kaimi , Yuka Takahashi , Tetsuro Ochi , Shinichi Makita , Noriko Iwaki , Suguru Fukuhara , Wataru Munakata , Koji Izutsu

BCL2⁺ follicular lymphomas (FLs) of grades 1–3A are defined as classic FL, and duodenal and skin FLs are known as special subtypes. To clarify the natural history of BCL2⁺ FLs, we analyzed the tumor site, histological grade, and histological transformation rate. We analyzed 2260 FL grade 1–3B samples from 1389 patients. BCL2 expression was positive in 94 % (2115/2260) of the samples, with higher positivity in gastrointestinal (GI) (98 % [duodenum, 99 %]) and bone marrow (BM) (97 %) FLs than in lymph node (LN) (92 %) and extranodal (EN) (93 %) FLs (P = 3.4E-06). Histological grade increased in the order of BM and duodenum, GI (excluding duodenum) and EN, and LN. The histological transformation rate in the same biopsy sample diagnosed with FL was the highest in GI (excluding duodenum) (12 %), followed by LN (10 %), EN (5 %), BM (1 %), and duodenum (0.5 %). No significant differences were observed between duodenal and BM FLs regarding BCL2-positivity rate (P = 0.326), histological grade (P = 0.131), and histological transformation rate (P = 0.408). In EN sites, FLs most commonly involved skin, ocular adnexa, connective tissue, bone, and paravertebra. No specific organ showed a particularly low BCL2⁺ percentage (range, 67 %–100 %). Because both primary (88 %) and secondary (95 %) skin FLs showed a high incidence of BCL2 expression, most skin FLs may represent one aspect of BCL2⁺ FL. These findings suggest that BM and duodenum FLs may represent early-phase BCL2⁺ FL, whereas EN, GI (excluding duodenum), and LN FLs may correspond to more advanced phases.

1-3A级的BCL2+滤泡性淋巴瘤（FLs）被定义为典型的FL，十二指肠和皮肤FLs被称为特殊亚型。为了阐明BCL2+ FLs的自然历史，我们分析了肿瘤部位、组织学分级和组织学转化率。我们分析了来自1389例患者的2260例1-3B级FL样本。BCL2在94%（2115/2260）的样本中呈阳性表达，其中胃肠道（GI）（98%[十二指肠，99%]）和骨髓（BM）（97%）的阳性表达高于淋巴结（LN）（92%）和结外（EN）（93%）的阳性表达（P = 3.41 e -06）。组织学分级依次为BM、十二指肠、GI（不含十二指肠）、EN、LN。在诊断为FL的同一活检样本中，胃肠道（不包括十二指肠）的组织学转化率最高（12%），其次是LN (10%), EN (5%)， BM（1%）和十二指肠（0.5%）。bcl2阳性率（P = 0.326）、组织学分级（P = 0.131）、组织学转化率（P = 0.408）在十二指肠组与BM组间均无显著差异。在EN部位，fl最常累及皮肤、眼附件、结缔组织、骨和椎旁。没有特定器官显示特别低的BCL2+百分比（范围，67%-100%）。由于原发性（88%）和继发性（95%）皮肤FLs的BCL2表达率都很高，因此大多数皮肤FLs可能代表BCL2+ FL的一个方面。这些研究结果表明，BM和十二指肠FLs可能代表早期BCL2+ FL，而EN、GI（不包括十二指肠）和LN FLs可能对应更晚期的BCL2+ FL。

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引用次数: 0

Targeted RNA sequencing enhances the integrated diagnosis of bone and soft tissue tumors 靶向RNA测序提高了骨和软组织肿瘤的综合诊断

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2026-01-07 DOI: 10.1016/j.humpath.2026.106036

Harumi Nakamura , Yoji Kukita , Toru Wakamatsu , Sho Nakai , Hironari Tamiya , Kei Kunimasa , Toru Kumagai , Fumio Imamura , Kazumi Nishino , Satoshi Takenaka , Yoshiko Hashii , Toshinari Yagi

Background

The diagnosis of bone and soft tissue tumors is challenging due to their rarity, overlapping morphology, and limited access to specialized immunohistochemistry (IHC) in routine practice. Because many of these tumors are fusion-driven, targeted RNA sequencing may improve diagnostic accuracy, but its use is not yet established in Japan.

Methods

We retrospectively analyzed 90 cases of bone and soft tissue tumors, including benign lesions, using the TruSight RNA Pan-Cancer Panel (1385 genes) on FFPE samples. Fusion detection was combined with expression-based clustering. Diagnostic impact was assessed by comparing initial histological impressions with integrated diagnoses incorporating targeted RNA panel findings.

Results

Fusion transcripts were detected in 63 cases (69.2 %), of which 46 were in-frame. Twenty-five cases harbored well-characterized pathogenic fusions that directly contributed to diagnostic confirmation or refinement. Twenty-one cases showed fusion transcripts of uncertain significance, and ten of these were reclassified as likely pathogenic after additional validation. Three cases exhibited complex fusion patterns suggestive of chromothripsis or chromoplexy, warranting further genome-wide analysis. RNA expression clustering distinguished several tumor subtypes and provided complementary support for diagnostically challenging cases, such as undifferentiated pleomorphic sarcoma.

Conclusions

Targeted RNA panel testing enabled robust detection of clinically relevant fusions and provided expression-based insights into tumor classification. When integrated with histopathology, this approach improved diagnostic accuracy in rare tumors and offered a practical triage strategy for extended genomic analysis, highlighting its clinical utility in pathology practice.

背景：骨和软组织肿瘤的诊断具有挑战性，因为它们罕见，形态重叠，并且在常规实践中缺乏专门的免疫组织化学（IHC）。由于许多这些肿瘤是融合驱动的，靶向RNA测序可能会提高诊断的准确性，但它的使用尚未在日本建立。方法回顾性分析90例骨和软组织肿瘤（包括良性病变），采用TruSight RNA Pan-Cancer Panel（1385个基因）对FFPE样本进行分析。融合检测与基于表达的聚类相结合。通过比较最初的组织学印象和结合靶向RNA小组结果的综合诊断来评估诊断的影响。结果63例（69.2%）检测到融合转录本，其中框架内46例。25例具有明确特征的病原融合，直接有助于诊断确认或改进。21例显示不确定意义的融合转录本，其中10例在进一步验证后被重新分类为可能致病。三个病例表现出复杂的融合模式，提示染色体断裂或染色体丛状，需要进一步的全基因组分析。RNA表达聚类区分了几种肿瘤亚型，并为诊断上具有挑战性的病例（如未分化多形性肉瘤）提供了补充支持。结论靶向RNA面板检测能够检测出临床相关的融合体，并为肿瘤分类提供基于表达的见解。当与组织病理学相结合时，该方法提高了罕见肿瘤的诊断准确性，并为扩展基因组分析提供了实用的分诊策略，突出了其在病理实践中的临床应用。

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引用次数: 0

RNA in situ hybridization based TRIM63 characterization in tubulocystic renal cell carcinoma. 基于RNA原位杂交的肾小管囊性细胞癌TRIM63鉴定。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2026-01-07 DOI: 10.1016/j.humpath.2026.106035

Ankur R Sangoi, Rohit Mehra, Lara R Harik

引用次数: 0

Long-term outcomes of prostate cancer patients with metastases in the anterior fat pad and pelvic lymph nodes: Nodal upstaging without worse long-term outcomes 前列腺癌前脂肪垫和盆腔淋巴结转移患者的长期预后：淋巴结晚期无更差的长期预后

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2026-01-06 DOI: 10.1016/j.humpath.2026.106033

Bo Yu , Xiao Zhou , Fang Bian , Feng Yan , Fogt Franz

Background

The frequency and prognostic significance of prostate cancer (PCa) metastasis to the prostatic anterior fat pad (PAFP) remain unclear. We evaluated the incidence of lymph nodes and metastatic involvement within the PAFP and assessed the impact of PAFP lymph node metastasis on nodal staging accuracy and long-term outcomes in patients undergoing radical prostatectomy.

Methods

We retrospectively analyzed 4028 patients who underwent radical prostatectomy with concurrent PAFP and pelvic lymph node (PLN) dissection between January 2010 and May 2021. Lymph nodes within the PAFP and PLN specimens, along with relevant histopathologic features, were evaluated. Patients were stratified into three groups based on the location of lymph node metastasis: (Group 1) PAFP-only metastasis, (Group 2) PLN-only metastasis, and (Group 3) metastasis involving both regions. Biochemical recurrence-free survival and overall survival were compared, and Kaplan-Meier analysis and multivariable Cox regression were used.

Results

Among all patients, lymph nodes were identified in the prostatic anterior fat pad in 295 cases (7.30 %), of those, 23 patients had isolated PAFP lymph node metastasis (0.57 % of the entire cohort and 7.80 % of patients with PAFP lymph nodes). PLNs were reported in 3874 patients (96.18 %), of whom 70 patients had isolated PLN metastasis (1.73 % of the entire cohort and 1.8 % of patients with PLN). Nine patients (0.22 % overall) demonstrated metastatic involvement of both PAFP and PLN. The metastatic positivity rate for isolated metastasis was significantly higher in PAFP lymph nodes than in PLN (Z = 6.7), with a relative risk of 4.32 (95 % CI, 2.73–6.75). Biochemical recurrence occurred in 77.8 % of patients in Group 1, 72.7 % in Group 2, and 66.7 % in Group 3. All-cause mortality was observed in 21.7 %, 7.2 %, and 22.2 % of patients in Groups 1, 2, and 3, respectively. Kaplan-Meier analysis and multivariable Cox regression demonstrated no significant differences in biochemical recurrence-free survival or overall survival between groups. Excision of the prostatic anterior fat pad resulted in lymph node upstaging in approximately 1 % of all patients. Biochemical recurrence-free survival and overall survival were comparable between patients with isolated PAFP and isolated PLN metastases.

Conclusions

Routine excision and pathological evaluation of the prostatic anterior fat pad during radical prostatectomy improve nodal staging by identifying otherwise unrecognized N1 disease, without an associated adverse impact on oncologic outcomes, compared with pelvic lymph node evaluation alone.

前列腺癌（PCa）转移到前列腺前脂肪垫（PAFP）的频率和预后意义尚不清楚。我们评估了PAFP内淋巴结和转移累及的发生率，并评估了PAFP淋巴结转移对根治性前列腺切除术患者淋巴结分期准确性和长期预后的影响。方法回顾性分析2010年1月至2021年5月4028例根治性前列腺切除术合并PAFP和盆腔淋巴结（PLN）清扫的患者。评估PAFP和PLN标本中的淋巴结，以及相关的组织病理学特征。根据淋巴结转移的位置将患者分为三组：（1组）仅pafp转移，（2组）仅pln转移，（3组）两区转移。比较生化无复发生存率和总生存率，采用Kaplan-Meier分析和多变量Cox回归。结果295例患者（7.30%）在前列腺前脂肪垫处发现淋巴结，其中23例患者有孤立性PAFP淋巴结转移（占整个队列的0.57%，占PAFP淋巴结患者的7.80%）。3874例（96.18%）患者报告了PLN，其中70例患者有分离性PLN转移（占整个队列的1.73%，占PLN患者的1.8%）。9例患者（0.22%）表现出PAFP和PLN的转移性累及。PAFP淋巴结的转移阳性率明显高于PLN (Z = 6.7)，相对危险度为4.32 （95% CI, 2.73-6.75）。第1组生化复发率77.8%，第2组为72.7%，第3组为66.7%。1组、2组和3组的全因死亡率分别为21.7%、7.2%和22.2%。Kaplan-Meier分析和多变量Cox回归显示，两组间生化无复发生存率和总生存率无显著差异。前列腺前脂肪垫的切除导致约1%的患者淋巴结分期增高。分离的PAFP和分离的PLN转移患者的生化无复发生存期和总生存期相当。结论：与盆腔淋巴结单独评估相比，根治性前列腺切除术期间前列腺前脂肪垫的常规切除和病理评估通过识别其他未被识别的N1疾病来改善淋巴结分期，而对肿瘤预后没有相关的不良影响。

{"title":"Long-term outcomes of prostate cancer patients with metastases in the anterior fat pad and pelvic lymph nodes: Nodal upstaging without worse long-term outcomes","authors":"Bo Yu , Xiao Zhou , Fang Bian , Feng Yan , Fogt Franz","doi":"10.1016/j.humpath.2026.106033","DOIUrl":"10.1016/j.humpath.2026.106033","url":null,"abstract":"<div><h3>Background</h3><div>The frequency and prognostic significance of prostate cancer (PCa) metastasis to the prostatic anterior fat pad (PAFP) remain unclear. We evaluated the incidence of lymph nodes and metastatic involvement within the PAFP and assessed the impact of PAFP lymph node metastasis on nodal staging accuracy and long-term outcomes in patients undergoing radical prostatectomy.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed 4028 patients who underwent radical prostatectomy with concurrent PAFP and pelvic lymph node (PLN) dissection between January 2010 and May 2021. Lymph nodes within the PAFP and PLN specimens, along with relevant histopathologic features, were evaluated. Patients were stratified into three groups based on the location of lymph node metastasis: (Group 1) PAFP-only metastasis, (Group 2) PLN-only metastasis, and (Group 3) metastasis involving both regions. Biochemical recurrence-free survival and overall survival were compared, and Kaplan-Meier analysis and multivariable Cox regression were used.</div></div><div><h3>Results</h3><div>Among all patients, lymph nodes were identified in the prostatic anterior fat pad in 295 cases (7.30 %), of those, 23 patients had isolated PAFP lymph node metastasis (0.57 % of the entire cohort and 7.80 % of patients with PAFP lymph nodes). PLNs were reported in 3874 patients (96.18 %), of whom 70 patients had isolated PLN metastasis (1.73 % of the entire cohort and 1.8 % of patients with PLN). Nine patients (0.22 % overall) demonstrated metastatic involvement of both PAFP and PLN. The metastatic positivity rate for isolated metastasis was significantly higher in PAFP lymph nodes than in PLN (Z = 6.7), with a relative risk of 4.32 (95 % CI, 2.73–6.75). Biochemical recurrence occurred in 77.8 % of patients in Group 1, 72.7 % in Group 2, and 66.7 % in Group 3. All-cause mortality was observed in 21.7 %, 7.2 %, and 22.2 % of patients in Groups 1, 2, and 3, respectively. Kaplan-Meier analysis and multivariable Cox regression demonstrated no significant differences in biochemical recurrence-free survival or overall survival between groups. Excision of the prostatic anterior fat pad resulted in lymph node upstaging in approximately 1 % of all patients. Biochemical recurrence-free survival and overall survival were comparable between patients with isolated PAFP and isolated PLN metastases.</div></div><div><h3>Conclusions</h3><div>Routine excision and pathological evaluation of the prostatic anterior fat pad during radical prostatectomy improve nodal staging by identifying otherwise unrecognized N1 disease, without an associated adverse impact on oncologic outcomes, compared with pelvic lymph node evaluation alone.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"170 ","pages":"Article 106033"},"PeriodicalIF":2.6,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145915106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Select updates in the pathology of kidney, testis, and penile cancer for 2026: Including FLCN-mutated (kidney) tumors, paratesticular mesothelial tumors, and TP53/HPV status in penile squamous cell carcinoma. 选择2026年肾脏、睾丸和阴茎癌病理的最新进展：包括flcn突变的（肾脏）肿瘤、睾丸旁间皮肿瘤和阴茎鳞状细胞癌的TP53/HPV状态。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2026-01-05 DOI: 10.1016/j.humpath.2026.106032

Burak Tekin, Rumeal D Whaley, Katrina Collins, Lori A Erickson, Liang Cheng, Sounak Gupta

Herein, we have provided select updates targeted towards practicing pathologists pertaining to the pathology of kidney, testis, and penile cancer. This includes discussion of diagnostic criteria, evolution of nomenclature, emerging immunohistochemistry markers, diagnostic pitfalls, and improved understanding of prognostic significance of biomarkers and/or staging parameters. For kidney tumors, specific topics of discussion include a summary of the recent literature pertaining to the biology and diagnostic criteria for conventional and non-conventional FLCN-mutated tumors, utility of GPNMB immunohistochemistry, and diagnostic pitfalls relevant to eosinophilic solid and cystic renal cell carcinoma. Testicular/paratesticular updates address diagnostic criteria for mesothelium-derived lesions of the tunica vaginalis, recommended immunohistochemical panels for testicular sex cord-stromal tumors, and recommended nomenclature, specifically the use of "embryonic-type neuroectodermal tumor" rather than primitive neuroectodermal tumor (PNET) in the context of somatic transformation of testicular germ cell tumors. For penile squamous cell carcinoma, the summary emphasizes prognostic biomarkers, notably TP53 alterations and high risk HPV status, and nuances pertaining to pathologic staging.

在这里，我们提供了选择更新针对执业病理学家有关病理肾，睾丸，和阴茎癌。这包括对诊断标准的讨论，命名法的演变，新出现的免疫组织化学标记物，诊断陷阱，以及对生物标记物和/或分期参数的预后意义的改进理解。对于肾肿瘤，具体的讨论主题包括总结有关常规和非常规flcn突变肿瘤的生物学和诊断标准的最新文献，GPNMB免疫组织化学的应用，以及与嗜酸性实体肾细胞癌和囊性肾细胞癌相关的诊断陷阱。睾丸/睾丸旁更新了阴道膜间皮源性病变的诊断标准，推荐了睾丸性索间质肿瘤的免疫组化检查，推荐了命名法，特别是在睾丸生殖细胞肿瘤体细胞转化的背景下使用“胚胎型神经外胚层肿瘤”而不是原始神经外胚层肿瘤（PNET）。对于阴茎鳞状细胞癌，总结强调预后生物标志物，特别是TP53改变和高危HPV状态，以及与病理分期有关的细微差别。

{"title":"Select updates in the pathology of kidney, testis, and penile cancer for 2026: Including FLCN-mutated (kidney) tumors, paratesticular mesothelial tumors, and TP53/HPV status in penile squamous cell carcinoma.","authors":"Burak Tekin, Rumeal D Whaley, Katrina Collins, Lori A Erickson, Liang Cheng, Sounak Gupta","doi":"10.1016/j.humpath.2026.106032","DOIUrl":"https://doi.org/10.1016/j.humpath.2026.106032","url":null,"abstract":"<p><p>Herein, we have provided select updates targeted towards practicing pathologists pertaining to the pathology of kidney, testis, and penile cancer. This includes discussion of diagnostic criteria, evolution of nomenclature, emerging immunohistochemistry markers, diagnostic pitfalls, and improved understanding of prognostic significance of biomarkers and/or staging parameters. For kidney tumors, specific topics of discussion include a summary of the recent literature pertaining to the biology and diagnostic criteria for conventional and non-conventional FLCN-mutated tumors, utility of GPNMB immunohistochemistry, and diagnostic pitfalls relevant to eosinophilic solid and cystic renal cell carcinoma. Testicular/paratesticular updates address diagnostic criteria for mesothelium-derived lesions of the tunica vaginalis, recommended immunohistochemical panels for testicular sex cord-stromal tumors, and recommended nomenclature, specifically the use of \"embryonic-type neuroectodermal tumor\" rather than primitive neuroectodermal tumor (PNET) in the context of somatic transformation of testicular germ cell tumors. For penile squamous cell carcinoma, the summary emphasizes prognostic biomarkers, notably TP53 alterations and high risk HPV status, and nuances pertaining to pathologic staging.</p>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":" ","pages":"106032"},"PeriodicalIF":2.6,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145917606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Selected updates in thyroid, parathyroid, and adrenal gland pathology. 甲状腺，甲状旁腺和肾上腺病理学的精选更新。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2026-01-03 DOI: 10.1016/j.humpath.2025.106029

Lori A Erickson, Sounak Gupta, Rumeal D Whaley, Burak Tekin, Jorge Torres-Mora

Endocrine pathology is continuously advancing with with new classification systems and an increased understanding the underlying pathogenesis and genetic alterations, whether somatic or germline, in endocrine diseases. Many changes have recently occurred in the classification of thyroid carcinoma, the most complex of which involve the new category of "high-grade follicular cell derived non anaplastic thyroid carcinoma" which encompasses both poorly differentiated thyroid carcinomas and differentiated high-grade thyroid carcinomas. The word "hyperplasia" is no longer used with primary multiglandular parathyroid disease due to increased understanding of its clonal nature. New terminology of "atypical parathyroid tumor" has been introduced for tumors highly worrisome for malignancy but without definitive invasion. "Parafibromin deficient parathyroid tumor" is now used for parathyroid neoplasms that show complete loss of nuclear parafibromin all tumor cells. Newer classification systems are increasingly used in the classification of adult and pediatric adrenal cortical neoplasms. The utility of CYP11B2 immunostain is being increasing reread recognized in the diagnosis of primary unilateral aldosteronism. This update focus on selected complex and significant areas in endocrine pathology that have undergone recent changes.

随着新的分类系统和对内分泌疾病的潜在发病机制和遗传改变（无论是体细胞还是种系）的了解的增加，内分泌病理学不断发展。近年来，甲状腺癌的分类发生了许多变化，其中最复杂的是“高级别滤泡细胞衍生的非间变性甲状腺癌”这一新类别，包括低分化甲状腺癌和分化的高级别甲状腺癌。由于对原发性多腺甲状旁腺疾病的克隆性认识的增加，“增生”一词不再用于原发性多腺甲状旁腺疾病。新术语“非典型甲状旁腺瘤”已引入肿瘤高度担心恶性，但没有明确的侵袭。“Parafibromin缺乏性甲状旁腺瘤”现在用于甲状旁腺肿瘤，显示所有肿瘤细胞的核旁纤蛋白完全丧失。更新的分类系统越来越多地用于成人和儿童肾上腺皮质肿瘤的分类。在原发性单侧醛固酮增多症的诊断中，CYP11B2免疫染色的应用越来越广泛。这次更新的重点是选定的复杂和重要的内分泌病理领域，已经经历了最近的变化。

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引用次数: 0

Information for Authors 作者信息

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2026-01-01 DOI: 10.1016/S0046-8177(26)00010-9

引用次数: 0

Inside front cover - Masthead 内前盖-报头

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2026-01-01 DOI: 10.1016/S0046-8177(26)00007-9

引用次数: 0

Endometrial gastric (gastrointestinal)-type mucinous adenocarcinoma: Diagnostic criteria, differential diagnosis, and molecular insights. 子宫内膜胃（胃肠道）型粘液腺癌：诊断标准、鉴别诊断和分子见解。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2025-12-30 DOI: 10.1016/j.humpath.2025.106031

Ga Hie Nam, Hui Min Tan, M Ruhul Quddus, Jinhong Dong, Kamaljeet Singh, C James Sung, Liang Cheng

Endometrial gastric (gastrointestinal)-type mucinous adenocarcinoma (EGMA) is a rare histologic subtype of endometrial carcinoma that is challenging to recognize as a distinct entity. Mucinous differentiation has been observed in endometrial carcinomas since the 1980s. However, the definitive characterization of endometrial carcinomas with mucinous differentiation has been unclear in the past. Since its formal inclusion in the latest 5th edition of the World Health Organization (WHO) Classification of Female Genital Tumors, and with increasing awareness of this rare entity, more case reports and studies on EGMAs have emerged in the recent years. Some studies sought to understand the expression of gastrointestinal immunohistochemical markers in neoplastic and/or normal endometrium, while others performed comprehensive clinicopathologic characterization of EGMAs, including their molecular characteristics. However, there still exist challenges in the diagnosis of EGMA, with considerable overlaps in morphologic features and immunohistochemical phenotype existing between EGMAs and the other differential diagnoses. This review sought to summarize the known clinical presentation, radiological findings and pathologic features of EGMA to date. We also discuss in detail the salient differential diagnoses to consider, and evaluate the utility of immunohistochemistry in the workup of this entity.

子宫内膜胃（胃肠）型粘液腺癌（EGMA）是一种罕见的子宫内膜癌的组织学亚型，很难将其作为一个独特的实体来识别。自20世纪80年代以来，在子宫内膜癌中观察到粘液分化。然而，具有粘液分化的子宫内膜癌的明确特征在过去一直不清楚。自其正式列入世界卫生组织（世卫组织）最新的第五版《女性生殖器肿瘤分类》以来，随着人们对这一罕见实体的认识不断提高，近年来出现了更多关于外阴肿瘤的病例报告和研究。一些研究试图了解胃肠道免疫组织化学标志物在肿瘤和/或正常子宫内膜中的表达，而另一些研究则对egma进行了全面的临床病理表征，包括其分子特征。然而，EGMA的诊断仍然存在挑战，EGMA与其他鉴别诊断在形态学特征和免疫组织化学表型上存在相当大的重叠。本文综述了迄今为止已知的EGMA的临床表现、影像学表现和病理特征。我们还将详细讨论需要考虑的显著鉴别诊断，并评估免疫组织化学在该实体检查中的效用。

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引用次数: 0