Human Pathology Reports最新文献

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Three cases of invasive solid papillary carcinoma of the breast displaying a wide variety of histological patterns with diagnostic challenges 三例乳腺浸润性实体乳头状癌表现出多种多样的组织学模式，诊断困难

Human Pathology Reports

Pub Date : 2025-11-01 DOI: 10.1016/j.hpr.2025.300802

Hiroshi Kobayashi , Saori Takashima , Riuko Ohashi , Tetsuya Tada , Yoshiro Otsuki

We report three cases of invasive solid papillary carcinoma (SPC) of the breast that exhibited a broad spectrum of histological patterns, posing significant diagnostic challenges in the biopsy and mastectomy specimens. Although initially diagnosed as invasive breast carcinoma of no special type (IBC-NST) on biopsy, the resected specimens revealed the characteristic features of SPC, including solid growth patterns with delicate fibrovascular cores, in addition to tubular and glandular structures. The tumors consisted predominantly of intricately confluent nodules with well-circumscribed, rather than ragged, contours immunohistochemically lacking myoepithelial lining. Within these nodules, we observed rosettes, tubules, cribriform-like glands, and IBC-NST-like nests at the periphery of the confluent areas. These structures led to misinterpretation on biopsy. Both the confluent nodules and peripheral nests were diffusely positive for synaptophysin and INSM1. Additionally, compact, round, non-confluent nodules with sparse or invisible fibrovascular cores were also present. They immunohistochemically demonstrated diffuse neuroendocrine differentiation and preservation of myoepithelial linings.

We propose that the confluent nodules with well-circumscribed contours and IBC-NST-like nests represent invasive SPC, while the non-confluent nodules correspond to SPC in situ (SPCIS) or neuroendocrine ductal carcinoma in situ. Differentiating invasive SPC from IBC-NST is crucial in breast pathology. The key lies in recognizing the distinctive morphology of invasive SPC and its frequent coexistence with SPCIS.

我们报告三例乳腺浸润性实体乳头状癌（SPC），表现出广泛的组织学模式，在活检和乳房切除术标本中提出了重大的诊断挑战。虽然最初在活检中被诊断为无特殊类型的浸润性乳腺癌（IBC-NST），但切除的标本显示出SPC的特征，包括固体生长模式和精致的纤维血管核心，以及管状和腺状结构。肿瘤主要由复杂融合的结节组成，边界清楚，而不是粗糙，轮廓免疫组织化学缺乏肌上皮内膜。在这些结节中，我们在汇流区周围观察到莲座、小管、筛状腺体和ibc - nst样巢。这些结构导致活检时的误解。融合结节和周围巢均弥漫性突触素和INSM1阳性。此外，致密，圆形，非融合结节，稀疏或不可见的纤维血管核心也存在。免疫组织化学显示弥漫性神经内分泌分化和肌上皮内膜的保存。我们认为，轮廓清晰的融合结节和ibc - nst样巢代表浸润性SPC，而非融合结节对应于原位SPC （spis）或神经内分泌导管原位癌。鉴别浸润性SPC和IBC-NST在乳腺病理学中是至关重要的。关键在于认识到浸润性SPC的独特形态及其与spis的频繁共存。

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引用次数: 0

Immunoexpression of MED12 in lobular carcinoma in situ confined within fibroadenoma of breast MED12在乳腺纤维腺瘤小叶原位癌中的免疫表达

Human Pathology Reports

Pub Date : 2025-11-01 DOI: 10.1016/j.hpr.2025.300804

James W. Perry , Kenneth A. Iczkowski , Cooley G. Pantazis , Amanda M. Burns

Fibroadenomas are common lesions in young women. Approximately 60–80% of fibroadenomas harbor a somatic mutation in exon 2 of the mediator complex MED12 subunit. MED12 regulates physiologic processes important for cell development. Dysregulation of MED12 has been described as linked to estrogen and TGF-β signaling. MED12 subunit mutations in fibroadenomas localize to the stromal cells and not the epithelial cells. Frequent MED12 subunit mutations have been detected in breast cancer as well as estrogen-dependent benign tumors, such as fibroadenoma, uterine leiomyoma, and phyllodes tumor. An association of lobular carcinoma in situ with fibroadenoma has been reported. The LCIS in this case was entirely confined to the fibroadenoma. This is the first reported case of immunohistochemical overexpression of MED12 in LCIS arising within a fibroadenoma.

纤维腺瘤是年轻女性常见的病变。大约60-80%的纤维腺瘤在介质复合物MED12亚基的外显子2中存在体细胞突变。MED12调节对细胞发育重要的生理过程。MED12的失调被认为与雌激素和TGF-β信号传导有关。纤维腺瘤的MED12亚基突变定位于基质细胞而非上皮细胞。MED12亚基突变在乳腺癌以及依赖雌激素的良性肿瘤（如纤维腺瘤、子宫平滑肌瘤和叶状瘤）中被频繁检测到。小叶原位癌与纤维腺瘤的关联已被报道。本例LCIS完全局限于纤维腺瘤。这是首次报道的纤维腺瘤中LCIS中MED12免疫组织化学过表达的病例。

引用次数: 0

A rare NAB2ex6::STAT6ex3 fusion identified in a large pelvic epithelioid and cystic high-risk solitary fibrous tumor (SFT) 罕见的NAB2ex6::STAT6ex3融合在大盆腔上皮样囊性高危孤立性纤维瘤（SFT）中发现

Human Pathology Reports

Pub Date : 2025-11-01 DOI: 10.1016/j.hpr.2025.300806

Jhuma Nandi , Mary Peeples , Ruth D. Stephenson , Lauren Gottshall , Saum Ghodoussipour , Murray Becker , Gregory M. Riedlinger , Lin Li

Solitary Fibrous Tumour (SFT) is a fibroblastic mesenchymal neoplasm with variable clinical behaviour with a genetic hallmark of recurrent fusion of NAB2 and STAT6 genes. More than 40 fusion variants have been reported and the NAB2ex6::STAT6ex16/17 groups have been found to carry significant higher risk of recurrence. We reported here a rare NAB2ex6::STAT6ex3 fusion found in a large pelvic epithelioid and cystic high risk SFT in a 65-year-old women. Significantly the molecular findings in our patient correlate with the patient’s clinical-pathological high-risk features, expanding the landscape of our knowledge of SFT.

孤立性纤维瘤（SFT）是一种临床表现多变的纤维母细胞间充质肿瘤，其遗传特征是NAB2和STAT6基因反复融合。已经报道了40多种融合变异，并且发现NAB2ex6::STAT6ex16/17组具有显著更高的复发风险。我们在此报道了一例罕见的NAB2ex6::STAT6ex3融合，发现于一名65岁女性的大盆腔上皮样细胞和囊性高危SFT。值得注意的是，我们患者的分子发现与患者的临床病理高危特征相关，扩大了我们对SFT的认识。

引用次数: 0

IL-4/JAK/STAT6 pathway activation in follicle center lymphoma of the lower female genital tract: A case report IL-4/JAK/STAT6通路在女性下生殖道滤泡中心淋巴瘤中的激活：1例报告

Human Pathology Reports

Pub Date : 2025-11-01 DOI: 10.1016/j.hpr.2025.300805

Takumi Kitaoka , Akira Satou , Eiichi Kitamura , Keiko Aizawa , Takeshi Sudo , Madoka Abe , Takanobu Kabasawa , Kazushi Suzuki , Naoya Uchiyama , Rintaro Ohe

Follicle center lymphoma (FCL) of the lower female genital tract (LFGT) is a recently proposed subtype of B-cell lymphoma that resembles primary cutaneous follicle center lymphoma. Although targeted next-generation sequencing (NGS) studies have identified recurrent TNFRSF14 mutations in FCL of the LFGT, its broader mutational landscape remains largely uncharacterized. We report a case of FCL of the LFGT in a woman in her 40s presenting with a cervical tumor. Histological examination revealed a predominantly diffuse proliferation of CD20⁺, CD79a⁺, BCL6⁺, HGAL⁺, CD23⁺, and BCL2⁻ atypical lymphocytes, consistent with a centrocytic phenotype. Numerous T follicular helper cells were observed in the background of the lesion. Whole-exome sequencing identified 1,336 coding variants. After filtering based on tumor cell content and CADD phred score (≥20), 125 variants were retained, including a nonsense mutation in TNFRSF14 and missense mutations in IL4R and SOCS3. The TNFRSF14 mutation may contribute to the accumulation and activation of T follicular helper cells by disrupting the inhibitory HVEM–BTLA signaling pathway. In addition, IL4R and SOCS3 mutations may lead to upregulation of the IL-4/JAK/STAT6 pathway, promoting tumor cell survival and proliferation. These findings provide new insights into the molecular pathogenesis of FCL of the LFGT.

下女性生殖道（LFGT）的滤泡中心淋巴瘤（FCL）是最近提出的一种类似原发性皮肤滤泡中心淋巴瘤的b细胞淋巴瘤亚型。尽管靶向下一代测序（NGS）研究已经确定了LFGT的FCL中复发性TNFRSF14突变，但其更广泛的突变格局在很大程度上仍未确定。我们报告一个病例的FCL的LFGT在一个女人在她的40多岁表现为宫颈肿瘤。组织学检查显示CD20+、CD79a+、BCL6+、HGAL+、CD23+和BCL2−非典型淋巴细胞以弥散增生为主，与中心细胞表型一致。病变背景中可见大量辅助T滤泡细胞。全外显子组测序鉴定出1,336个编码变体。根据肿瘤细胞含量和CADD phred评分（≥20）筛选后，保留了125个变异，包括TNFRSF14的无义突变和IL4R和SOCS3的错义突变。TNFRSF14突变可能通过破坏抑制HVEM-BTLA信号通路，促进T滤泡辅助细胞的积累和激活。此外，IL4R和SOCS3突变可能导致IL-4/JAK/STAT6通路上调，促进肿瘤细胞存活和增殖。这些发现为LFGT FCL的分子发病机制提供了新的见解。

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引用次数: 0

Low-grade endometrial stroma-like sarcoma with smooth-muscle-like differentiation, DOG1 expression and JAZF1::SUZ12 fusion in a male patient 1例男性低级别子宫内膜间质样肉瘤伴平滑肌样分化、DOG1表达及JAZF1::SUZ12融合

Human Pathology Reports

Pub Date : 2025-11-01 DOI: 10.1016/j.hpr.2025.300808

Pierre Allaume , Louis Escuer , Sébastien Henno , Aude Merdrignac , Cyrille Berra , Frédéric Dugay , François Le Loarer , Solène-Florence Kammerer-Jacquet , Francisco Llamas-Gutierrez

Low-grade endometrial stromal sarcoma (LG-ESS) is an uncommon mesenchymal tumor typically arising in the uterine corpus, but has been rarely described in men. We present a case of a molecularly confirmed LG-ESS in a 60-year-old male patient, presenting as a pelvic mass with oligo-symptoms. The core-needle tumor sample demonstrated histological features of a low-grade fusocellular tumor with partial smooth muscle differentiation, strongly positive for smooth muscle actin and desmin, and weak DOG1 expression. Molecular analysis identified a JAZF1::SUZ12 gene fusion, akin to LG-ESS. This case underscores the potential challenge of diagnosing LG-ESS in men, where differential diagnoses include other tumors of mesenchymal origin such as gastrointestinal stromal tumors (GISTs) and solitary fibrous tumors, among others. As DOG1 expression in LG-ESS hasn’t been reported in the literature yet, we retrospectively performed DOG1 immunohistochemistry of eight cases LG-ESS in women, finding DOG1 expression in 50% of cases with a weak and heterogeneous pattern. This novel finding highlights a potential pitfall in the diagnosis of LG-ESS especially in men, and warrants further investigations.

低级别子宫内膜间质肉瘤（LG-ESS）是一种罕见的间质肿瘤，通常发生在子宫体，但在男性中很少被描述。我们提出一个60岁男性患者的分子证实的LG-ESS病例，表现为盆腔肿块伴少症状。核心针肿瘤标本表现为低级别梭细胞瘤，部分平滑肌分化，平滑肌肌动蛋白和desmin阳性，弱DOG1表达。分子分析鉴定出JAZF1::SUZ12基因融合，类似于LG-ESS。该病例强调了诊断男性LG-ESS的潜在挑战，其中鉴别诊断包括其他间质来源的肿瘤，如胃肠道间质瘤（gist）和孤立纤维性肿瘤等。由于DOG1在LG-ESS中的表达尚未见文献报道，我们回顾性地对8例女性LG-ESS进行了DOG1免疫组化，发现50%的病例DOG1表达弱且异质性。这一新颖的发现突出了LG-ESS诊断的潜在缺陷，特别是在男性中，值得进一步研究。

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引用次数: 0

Pediatric colonic basidiobolomycosis masquerading as cancer: diagnostic challenges in a resource-limited setting-a two case report and literature review 伪装成癌症的儿童结肠担子孢子菌病：在资源有限的环境下的诊断挑战——两例报告和文献综述

Human Pathology Reports

Pub Date : 2025-11-01 DOI: 10.1016/j.hpr.2025.300807

Ismail Mohamoud Abdullahi

Colonic basidiobolomycosis is a rare fungal infection caused by Basidiobolus ranarum, usually affecting immunocompetent individuals and often mimicking colorectal carcinoma or inflammatory bowel disease. We report a two case report in Somalia who initially presented with abdominal pain, weight loss, and mass-like colonic lesions, both initially suspected to have colorectal cancer based on clinical presentation and imaging. Diagnostic confirmation was achieved Postoperatively through histological evaluation with special stains by demonstrating granulomatous inflammation rich in eosinophils and fungal hyphae surrounded by Splendore–Hoeppli material. Both patients underwent surgical intervention followed by antifungal therapy with itraconazole, showing favorable postoperative outcomes and no recurrence during 12–14 months of follow-up. This report highlights colonic basidiobolomycosis as an under-recognized mimic of malignancy, emphasizing the importance of early histopathological evaluation and clinical awareness in resource-limited settings to avoid misdiagnosis, unnecessary surgery, and associated morbidity. A narrative literature review was also conducted to contextualize our findings.

结肠担子孢子菌病是一种罕见的真菌感染引起的担子孢子虫ranarum，通常影响免疫能力强的个体，经常模仿结肠直肠癌或炎症性肠病。我们报告了索马里的两例病例，他们最初表现为腹痛、体重减轻和肿块样结肠病变，根据临床表现和影像学，他们最初都怀疑患有结直肠癌。术后通过特殊染色的组织学评估，证实肉芽肿性炎症富含嗜酸性粒细胞和真菌菌丝，被Splendore-Hoeppli物质包围。两例患者均行手术干预并给予伊曲康唑抗真菌治疗，术后效果良好，随访12-14个月无复发。本报告强调结肠担子孢子菌病是一种未被充分认识的恶性肿瘤，强调在资源有限的情况下，早期组织病理学评估和临床意识的重要性，以避免误诊、不必要的手术和相关的发病率。我们还进行了一项叙述性文献综述，以将我们的研究结果置于背景中。

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引用次数: 0

A novel fusion of EWSR1::PRKD1 in cribriform adenocarcinoma of salivary glands: A rare case report EWSR1::PRKD1在涎腺筛状腺癌中的融合：一个罕见的病例报告

Human Pathology Reports

Pub Date : 2025-10-23 DOI: 10.1016/j.hpr.2025.300801

Zecra Yahia

Cribriform adenocarcinoma of the salivary glands (CASG) represents an underappreciated epithelial malignancy characterized by distinctive histologic patterns and recurrent PRKD gene fusions. We report a novel case of CASG in a 62-year-old female presenting with a 13-month indolent tongue lesion. Histopathological examination revealed neoplastic proliferation with cribriform, solid, and papillary architectural patterns, notable for prominent clear cell morphology. Immunohistochemical profiling demonstrated strong positivity for cytokeratins, PRKD1, p63, and p21, while remaining negative for p40, TTF-1 and myoepithelial markers. Fluorescence in situ hybridization confirmed PRKD1 and EWSR1 gene rearrangement using the corresponding break-apart probes, and next-generation sequencing identified a novel EWSR1::PRKD1 fusion—the first reported instance of this genetic alteration in CASG. This fusion expands the molecular spectrum of CASG beyond previously documented PRKD gene rearrangements and hotspot mutations. Complete surgical excision achieved excellent oncologic control with no recurrence over 38 months of follow-up.

唾液腺筛状腺癌（CASG）是一种未被充分认识的上皮恶性肿瘤，其特征是独特的组织学模式和复发性PRKD基因融合。我们报告一个新病例CASG在一个62岁的女性表现为13个月的惰性舌头病变。组织病理学检查显示肿瘤增生，呈筛状、实状和乳头状结构，明显的透明细胞形态。免疫组化分析显示细胞角蛋白、PRKD1、p63和p21呈阳性，而p40、TTF-1和肌上皮标志物呈阴性。荧光原位杂交使用相应的分离探针证实了PRKD1和EWSR1基因重排，下一代测序鉴定了一种新的EWSR1::PRKD1融合-这是CASG中首次报道的这种遗传改变。这种融合扩展了CASG的分子谱，超出了先前记录的PRKD基因重排和热点突变。完全手术切除获得了良好的肿瘤控制，随访38个月无复发。

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引用次数: 0

IDH1 mutated prostate cancer with psammomatous calcifications: A case report and review of the literature IDH1突变前列腺癌伴沙质钙化：1例报告及文献复习

Human Pathology Reports

Pub Date : 2025-10-12 DOI: 10.1016/j.hpr.2025.300800

D.A. Gaskin , A. Reid , N. Depeiza , J. Nebhnani , P.S. Gaskin

We report a case of grade group 2, pT 3 N0 Mx prostate acinar adenocarcinoma with intratumoural psammomatous calcifications and IDH1 mutation. This is an emerging molecular subtype of prostate cancer associated with a propensity for higher grade and stage of disease. The index case was of intermediate grade but had locally advanced stage III disease.

我们报告一例2级组p3n0mx前列腺腺泡癌伴瘤内沙质钙化和IDH1突变。这是一种新兴的前列腺癌分子亚型，与更高级别和阶段的疾病倾向相关。指示病例为中度，但局部为晚期III期。

引用次数: 0

A case of angioimmunoblastic T-cell lymphoma coexisting with castleman disease 血管免疫母细胞t细胞淋巴瘤合并castleman病1例

Human Pathology Reports

Pub Date : 2025-10-11 DOI: 10.1016/j.hpr.2025.300798

Lianshan Zhan , Long Wang , Hongyan Wu , Zhongjiao Chen , Lina Wang

Background

Angioimmunoblastic T-cell lymphoma (AITL) is a rare, mature T-cell lymphoma with diagnostic challenges. Its coexistence with Castleman disease (CD) is exceptionally uncommon and complicates diagnosis and management.

Case presentation

We report a 67-year-old male with bilateral cervical lymphadenopathy. Imaging showed enlarged lymph nodes with prominent vascularity and a “rim sign.” Initial pathology suggested CD, with preserved lymph node architecture, atrophic germinal centers, and “lollipop” structures. Further evaluation, however, revealed diffuse proliferation of atypical T-cells.

Diagnostic findings

Immunohistochemistry showed atypical cells expressing follicular helper T-cell markers (CD10, PD1, BCL6). Molecular analysis confirmed monoclonal TCRγ gene rearrangement, and flow cytometry identified an abnormal CD4 + CD7 − T-cell clone. These findings established the diagnosis of AITL coexisting with CD.

Conclusion

This case highlights the high diagnostic hurdles of coexisting AITL and CD, emphasizing the critical need for comprehensive morphological, immunophenotypic, and molecular analyses for accurate diagnosis and optimal patient management.

免疫母细胞t细胞淋巴瘤（AITL）是一种罕见的成熟t细胞淋巴瘤，诊断困难。它与Castleman病（CD）共存是非常罕见的，并且使诊断和治疗复杂化。我们报告一位67岁男性双侧颈淋巴肿大患者。影像学显示淋巴结肿大，血管突出，有“边缘征”。初步病理提示CD，淋巴结结构保留，生发中心萎缩，呈“棒棒糖”状结构。然而，进一步的评估显示非典型t细胞弥漫性增殖。免疫组化显示非典型细胞表达滤泡辅助性t细胞标志物（CD10, PD1, BCL6）。分子分析证实单克隆TCRγ基因重排，流式细胞术鉴定CD4 + CD7−t细胞克隆异常。结论本病例强调了AITL合并CD的诊断难度，强调了对AITL合并CD进行全面的形态学、免疫表型和分子分析以准确诊断和优化患者管理的必要性。

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引用次数: 0

Sex cord-like elements in Müllerian lesions: Report of two rare cases and review of the literature <s:1>勒氏菌病变中的性索样成分：两例罕见病例报告及文献复习

Human Pathology Reports

Pub Date : 2025-10-07 DOI: 10.1016/j.hpr.2025.300799

Bahadir Yildiz , Huina Zhang , Jamie Linn McDowell , Hani Katerji , Sharlin Varghese , Xi Wang

Sex cord-like elements (SCLEs) are uncommon in non-ovarian sex cord lesions in the female genital tract and are most commonly observed in uterine endometrial stromal tumors (EST) and uterine tumors resembling ovarian sex cord tumors (UTROSCT). Here, we describe two rare cases harboring SCLEs. The first case was a 72-year-old female with postmenopausal bleeding. Endometrial curettage showed endometrial polyps with SCLEs, confirmed by immunohistochemical staining for calretinin, Melan A, and inhibin. The second case was a 71-year-old female with a complex cystic and solid mass in the left ovary, and bilateral salpingo-oophorectomy revealed an ovarian adenosarcoma with extensive SCLEs. Both patients recovered well and the presence of SCLEs did not change the fate of the parent lesions. Our report highlights the importance of awareness of SCLEs in these Müllerian lesions, although exceedingly rare, to avoid diagnostic confusion.

性索样成分（SCLEs）在女性生殖道的非卵巢性索病变中并不常见，最常见于子宫内膜间质瘤（EST）和类似卵巢性索瘤（UTROSCT）的子宫肿瘤。在这里，我们描述两个罕见的案例。第一位病例为72岁女性，绝经后出血。子宫内膜刮除显示子宫内膜息肉伴鳞状细胞，经calretinin， melana和inhibin免疫组化染色证实。第二个病例是一位71岁的女性，左侧卵巢有复杂的囊性和实性肿块，双侧输卵管卵巢切除术发现卵巢腺肉瘤伴广泛的细胞。两例患者均恢复良好，sces的存在并未改变母灶的命运。我们的报告强调了在这些勒氏管病变中，尽管极为罕见，但认识到scs的重要性，以避免诊断上的混淆。

引用次数: 0

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