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The role of Engrailed developmental genes in gynaecological cancer 遗传发育基因在妇科癌症中的作用
IF 0.5 Q4 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.patol.2025.100848
Valeria Meraz Alvarado, Marco Antonio Fuentes García, Mauricio Salcedo Vargas, Ricardo López Romero
Homeobox genes encode a superfamily of transcriptional regulators involved in the growth and development of human tissues and organs. Engrailed (En) genes are homeodomain genes, which have transcription factor functions and play a significant role in vertebrate embryonic development. The EN proteins comprise two members, Engrailed-1 (EN1) and Engrailed-2 (EN2). These proteins have been implicated in cancer development in various adult tissues, acting either as oncogenes or tumour suppressors depending on the context and cell type. Their expression has also been investigated in urinary cancers such as prostate and bladder cancer, where they have been proposed as non-invasive biomarkers detectable in urine. Studies in gynaecological tissues have suggested EN1 and EN2 may act as oncogenes in breast and ovarian cancer; however, research into their roles in other gynaecological cancers, such as endometrial, cervical and vaginal cancer, remains preliminary.
同源盒基因编码一个参与人体组织和器官生长发育的转录调控超家族。engriled (En)基因是具有转录因子功能的同源结构域基因,在脊椎动物胚胎发育中起着重要作用。EN蛋白包括两个成员,EN1和EN2。这些蛋白质与各种成人组织的癌症发展有关,根据环境和细胞类型,它们要么作为致癌基因,要么作为肿瘤抑制因子。它们在前列腺癌和膀胱癌等泌尿系统癌症中的表达也被研究过,它们被认为是可以在尿液中检测到的非侵入性生物标志物。对妇科组织的研究表明,EN1和EN2可能是乳腺癌和卵巢癌的致癌基因;然而,对它们在其他妇科癌症,如子宫内膜癌、子宫颈癌和阴道癌中的作用的研究仍处于初步阶段。
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引用次数: 0
Angiosarcoma developing in an ovarian fibroma: A case report 卵巢纤维瘤并发血管肉瘤1例
IF 0.5 Q4 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.patol.2025.100855
Ana L. Nocito , Sandra I. Sarancone
Angiosarcomas are malignant vascular tumors primarily located in the dermis or soft tissues predominantly in the head and neck region. Ovarian localization is extremely rare, with only a few published cases. A 63-year-old patient was admitted to the hospital due to severe pain in the hypogastric and abdominal regions. The condition was interpreted as an acute abdomen and referred to surgery, and an ovarian tumor that measured 23 cm × 11 cm × 5 cm and weighed 7500 g was resected. Macroscopically, the cut surface showed two well-defined areas: one consisting of a matte white tissue with a fascicular appearance and firm consistency and the other hemorrhagic with necrotic areas. Histological examination revealed two patterns: one characterized by a proliferation of spindle-shaped cells without atypia, and the other by neoplastic proliferation with marked atypia, forming vascular channels or fascicles. The vascular component was positive for CD31, CD34, and ERG. The findings were interpreted as an angiosarcoma associated with a fibroma, and the patient died in the immediate postoperative period. The low incidence and ominous prognosis of primary or metastatic ovarian angiosarcomas have been confirmed. Regarding the histogenesis, a strong likelihood exists of a relationship with the ovary's rich vascular network. In both well-differentiated and poorly differentiated cases, it is crucial to consider differential diagnoses and perform immunohistochemical techniques, which can assist in achieving an accurate diagnosis. The association between fibroma and angiosarcoma is poorly understood and the histogenesis remains unclear.
血管肉瘤是一种恶性血管肿瘤,主要位于头颈部的真皮或软组织。卵巢定位是极其罕见的,只有少数发表的病例。患者63岁,因下腹剧烈疼痛入院。诊断为急腹症,行手术治疗,切除了一个23厘米× 11厘米× 5厘米、重7500克的卵巢肿瘤。宏观上,切口表面显示两个明确的区域:一个由束状外观和坚固的稠度的哑光白色组织组成,另一个出血坏死区域。组织学检查显示两种模式:一种是无异型性的梭形细胞增生,另一种是具有明显异型性的肿瘤增生,形成血管通道或束。血管成分CD31、CD34和ERG呈阳性。结果被解释为血管肉瘤合并纤维瘤,患者在术后立即死亡。原发性或转移性卵巢血管肉瘤发病率低,预后不良。关于组织发生,很可能与卵巢丰富的血管网络有关。在高分化和低分化的情况下,考虑鉴别诊断和执行免疫组织化学技术是至关重要的,这可以帮助实现准确的诊断。纤维瘤和血管肉瘤之间的关系尚不清楚,其组织发生机制也不清楚。
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引用次数: 0
Morphological and clinical predictive factors in appendiceal mucinous neoplasms: A retrospective analysis of 49 cases 49例阑尾黏液性肿瘤的形态学及临床预测因素回顾性分析
IF 0.5 Q4 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.patol.2025.100847
Carmen Rodríguez García , David Ramos Soler , Nuria Rausell Fontestad , Carmen Gutiérrez Sánchez , Pablo Guerrero Antolino , Franscico Giner Segura
Appendiceal mucinous neoplasms (AMNs) represent an infrequent type of appendiceal tumour, characterised by their potential for aggressive biological behaviour and the possibility of developing peritoneal carcinomatosis. There is still uncertainty about which variables can predict the clinical evolution and recurrence risk of this disease. The primary objective of this study is to reevaluate cases of AMN diagnosed at our institution to identify morphological and clinical factors that may serve as predictors of recurrence. A retrospective study of 49 patients diagnosed with AMN at tertiary hospital from 2011 to 2023 was carried out. Histological parameters, such as architectural pattern, mitotic index, and loss of polarity, along with pre- and post-operative clinical data were collected. Variables significantly associated with the first recurrence were surgical reintervention (p = 0.002), death due to AMN (p = 0.008), carcinomatosis at diagnosis (p = 0.003), adjuvant therapy (p = 0.01), TNM stage (p = 0.01), morphological pattern (p = 0.02), and loss of nuclear polarity (p = 0.02). Survival analysis revealed that an undulating pattern (p = 0.04) and the presence of micropapillary structures (p = 0.01) were associated with an increased risk of recurrence. In contrast, the risk of recurrence decreased with increasing age (p = 0.02) and focal loss of nuclear polarity. The risk was higher in cases classified as HAMN (p = 0.008). The results indicate that age and focal loss of nuclear polarity are inversely correlated with recurrence risk, while an undulating pattern and the presence of micropapillary structures are directly correlated with time to first recurrence. These findings contribute to improved risk stratification and the optimization of therapeutic strategies for patients with AMN.
阑尾黏液性肿瘤(AMNs)是一种罕见的阑尾肿瘤,其特点是具有潜在的侵袭性生物学行为和发展为腹膜癌的可能性。目前仍不确定哪些变量可以预测该疾病的临床演变和复发风险。本研究的主要目的是重新评估在我院诊断的AMN病例,以确定可能作为复发预测因素的形态学和临床因素。回顾性分析2011 ~ 2023年三级医院诊断为AMN的49例患者。组织学参数,如建筑模式,有丝分裂指数,极性丧失,以及术前和术后的临床数据被收集。与首次复发显著相关的变量是手术再干预(p = 0.002)、AMN死亡(p = 0.008)、诊断时癌变(p = 0.003)、辅助治疗(p = 0.01)、TNM分期(p = 0.01)、形态模式(p = 0.02)和核极性丧失(p = 0.02)。生存分析显示波动型(p = 0.04)和微乳头状结构的存在(p = 0.01)与复发风险增加相关。相反,复发的风险随着年龄的增加(p = 0.02)和核极性的局部丧失而降低。HAMN组的风险更高(p = 0.008)。结果表明,年龄和核极性的局灶性丧失与复发风险呈负相关,而波动模式和微乳头结构的存在与首次复发的时间直接相关。这些发现有助于改善AMN患者的风险分层和优化治疗策略。
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引用次数: 0
Granular cell tumour of non-neural origin, ALK positive: Case report and literature review 非神经源性颗粒细胞瘤,ALK阳性:1例报告及文献复习。
IF 0.5 Q4 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.patol.2025.100853
Viviana Dávila Flores , Alicia Sánz , Michelle Jurado , Susana Ramos , Rafael Sánchez
Non-neural granular cell tumour (NNGCT) is a rare cutaneous neoplasm characterised by the absence of S100 expression and a differentiation of uncertain lineage. We present the case of a 13-year-old male patient with a cutaneous lesion on the left wrist, initially diagnosed as pilomatrixoma. Histological analysis revealed a proliferation of spindle-shaped cells with eosinophilic granular cytoplasm and immunohistochemical positivity for ALK, NKI/C3, CD10, and CD68, with negativity for S100. ALK positivity in this case supports the hypothesis of a potential genetic alteration shared with other ALK-positive tumours. The patient had a favourable outcome following tumour excision, with no evidence of recurrence or metastasis. This case contributes to the characterisation of ALK-positive NNGCT and highlights its relevance in the differential diagnosis of cutaneous granular cell tumours.
非神经颗粒细胞瘤(NNGCT)是一种罕见的皮肤肿瘤,其特征是缺乏S100的表达和不确定的谱系分化。我们提出的情况下,13岁的男性患者皮肤病变的左手腕,最初诊断为毛基质瘤。组织学分析显示梭形细胞增生,呈嗜酸性颗粒状细胞质,ALK、NKI/C3、CD10和CD68免疫组化阳性,S100阴性。本例ALK阳性支持了与其他ALK阳性肿瘤共享的潜在遗传改变的假设。患者肿瘤切除后预后良好,无复发或转移迹象。本病例有助于alk阳性NNGCT的特征,并强调其在皮肤颗粒细胞肿瘤鉴别诊断中的相关性。
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引用次数: 0
Pleomorphic liposarcoma of the breast 乳腺多形性脂肪肉瘤
IF 0.5 Q4 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.patol.2025.100851
Miriam Rubiera Valdés , Inés Gómez de la Riva , José María Alonso de la Campa , Adela Alonso Fernández-Velásco
Primary sarcomas of the breast are exceptionally rare, accounting for fewer than 1% of malignant breast lesions. Mammary liposarcomas comprise less than 5% of all breast sarcomas, and among these, primary pleomorphic liposarcoma is particularly uncommon, with a reported frequency of less than 0.01% of malignant breast lesions. It is a highly aggressive tumour, characterised by a high recurrence rate. The characteristic microscopic findings of pleomorphic liposarcoma include atypical lipomatous cells with marked nuclear pleomorphism, as well as abundant lipoblasts, frequent mitoses, and extensive areas of necrosis. In this article, we present a case of primary pleomorphic liposarcoma of the breast.
乳腺原发性肉瘤极为罕见,占乳腺恶性病变的不到1%。乳腺脂肪肉瘤占所有乳腺肉瘤的比例不到5%,其中原发性多形性脂肪肉瘤尤为罕见,据报道其发病率不到乳腺恶性病变的0.01%。它是一种高度侵袭性的肿瘤,特点是复发率高。多形性脂肪肉瘤的特征性显微镜表现包括核多形性明显的非典型脂肪瘤细胞、丰富的脂肪母细胞、频繁的有丝分裂和大面积的坏死。本文报告一例原发性乳腺多形性脂肪肉瘤。
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引用次数: 0
Subspecialisation in Pathology with the Advent of Digitalisation and Telepathology: Opportunity or Threat? 数字化和远程病理学的到来:机遇还是威胁?
IF 0.5 Q4 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.patol.2025.100844
Miguel Ángel Idoate Gastearena , Santiago Nieto Llanos
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引用次数: 0
Ectopic thyroid tissue in the mandible: Case report 下颌骨甲状腺组织异位1例
IF 0.5 Q4 Medicine Pub Date : 2025-09-10 DOI: 10.1016/j.patol.2025.100842
Daniela Alejandra García Alonso , Moisés Salamanca García , María Edith Salgado Alday

Background

Ectopic thyroid tissue is a rare condition, with an estimated prevalence of 1 case per 300,000 individuals. The lingual region is the most common site of ectopia. To date, only two cases of ectopic thyroid tissue in the mandibular bone have been reported.

Clinical case

A 62-year-old woman presented with oedema and pain in the lower left second molar, which had progressively worsened and did not improve despite analgesic treatment. As an initial diagnostic approach, an orthopantomogram was performed, revealing extensive destruction of the left mandible. A biopsy of the affected area was subsequently obtained. Histological examination identified thyroid tissue within the bone trabeculae, consisting of thyroid follicles with colloid content.

Conclusion

The diagnosis of ectopic thyroid is uncommon and often challenging to establish. It is therefore essential to be aware of the various clinical manifestations and possible locations of ectopia in order to achieve accurate diagnosis and appropriate treatment.
背景:甲状腺组织异位是一种罕见的疾病,估计患病率为每30万人中有1例。舌区是最常见的异位部位。迄今为止,只有两例异位甲状腺组织在下颌骨已被报道。临床病例:一名62岁女性,左下第二磨牙水肿和疼痛,病情逐渐恶化,尽管进行了镇痛治疗,但仍未好转。作为最初的诊断方法,进行了骨断层扫描,发现左下颌骨大面积破坏。随后对患处进行活组织检查。组织学检查发现骨小梁内的甲状腺组织,由含有胶体的甲状腺滤泡组成。结论异位甲状腺的诊断并不常见,且往往难以确定。因此,了解异位的各种临床表现和可能的位置,以达到准确的诊断和适当的治疗是至关重要的。
{"title":"Ectopic thyroid tissue in the mandible: Case report","authors":"Daniela Alejandra García Alonso ,&nbsp;Moisés Salamanca García ,&nbsp;María Edith Salgado Alday","doi":"10.1016/j.patol.2025.100842","DOIUrl":"10.1016/j.patol.2025.100842","url":null,"abstract":"<div><h3>Background</h3><div>Ectopic thyroid tissue is a rare condition, with an estimated prevalence of 1 case per 300,000 individuals. The lingual region is the most common site of ectopia. To date, only two cases of ectopic thyroid tissue in the mandibular bone have been reported.</div></div><div><h3>Clinical case</h3><div>A 62-year-old woman presented with oedema and pain in the lower left second molar, which had progressively worsened and did not improve despite analgesic treatment. As an initial diagnostic approach, an orthopantomogram was performed, revealing extensive destruction of the left mandible. A biopsy of the affected area was subsequently obtained. Histological examination identified thyroid tissue within the bone trabeculae, consisting of thyroid follicles with colloid content.</div></div><div><h3>Conclusion</h3><div>The diagnosis of ectopic thyroid is uncommon and often challenging to establish. It is therefore essential to be aware of the various clinical manifestations and possible locations of ectopia in order to achieve accurate diagnosis and appropriate treatment.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 4","pages":"Article 100842"},"PeriodicalIF":0.5,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145026679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fine needle aspiration cytology of epithelioid sarcoma: A case series with histopathological correlation and literature review 上皮样肉瘤的细针抽吸细胞学:一个具有组织病理学相关性的病例系列和文献复习
IF 0.5 Q4 Medicine Pub Date : 2025-09-03 DOI: 10.1016/j.patol.2025.100831
Sagir Akhtar , Adil Aziz Khan , Geet Bhuyan , Sumanta Das

Introduction

Epithelioid sarcoma (ES) is an uncommon malignant mesenchymal tumour that occurs in young adults and adolescents. Few documented series have elucidated the cytopathological features and immunostaining results of epithelioid sarcoma. Here, we present one of the largest series documenting 15 cases of ES.

Method

Archives of cytology and histopathology have been searched for data on epithelioid sarcoma from the past 10 years. Only cases with histopathological records and immunohistochemistry follow-up have been included.

Result

Out of the 27 cases of ES in our database, 15 had both cytology and corresponding histopathology. Of these 15 cases, Fine Needle Aspiration Cytology (FNAC) was indicated for primary diagnosis in 4 cases, for recurrent settings in 5 cases, and metastatic settings in 6 cases. Immunohistochemistry was correlated wherever available. In 8 cases, retrospective immunohistochemistry was performed for confirmation of epithelioid sarcoma.

Conclusion

FNAC is a valuable tool in the recurrent and metastatic settings of epithelioid sarcoma. However, for primary diagnosis, it is helpful but not diagnostic, as various morphologies can be observed and several differential diagnoses must be taken into account.
上皮样肉瘤(ES)是一种少见的恶性间质肿瘤,多发生于年轻成人和青少年。很少有文献报道上皮样肉瘤的细胞病理学特征和免疫染色结果。在这里,我们将介绍记录了15个ES案例的最大系列之一。方法查阅近10年来上皮样肉瘤的细胞学和组织病理学资料。仅包括有组织病理记录和免疫组织化学随访的病例。结果本组27例ES患者中,有15例细胞学检查和相应的组织病理学检查同时进行。在这15例中,细针穿刺细胞学检查(FNAC)用于4例的初步诊断,5例用于复发,6例用于转移。免疫组织化学相关。8例经回顾性免疫组化证实为上皮样肉瘤。结论fnac是诊断上皮样肉瘤复发和转移的有效工具。然而,对于初步诊断,它是有帮助的,但不是诊断性的,因为可以观察到各种形态,并且必须考虑几种鉴别诊断。
{"title":"Fine needle aspiration cytology of epithelioid sarcoma: A case series with histopathological correlation and literature review","authors":"Sagir Akhtar ,&nbsp;Adil Aziz Khan ,&nbsp;Geet Bhuyan ,&nbsp;Sumanta Das","doi":"10.1016/j.patol.2025.100831","DOIUrl":"10.1016/j.patol.2025.100831","url":null,"abstract":"<div><h3>Introduction</h3><div>Epithelioid sarcoma (ES) is an uncommon malignant mesenchymal tumour that occurs in young adults and adolescents. Few documented series have elucidated the cytopathological features and immunostaining results of epithelioid sarcoma. Here, we present one of the largest series documenting 15 cases of ES.</div></div><div><h3>Method</h3><div>Archives of cytology and histopathology have been searched for data on epithelioid sarcoma from the past 10 years. Only cases with histopathological records and immunohistochemistry follow-up have been included.</div></div><div><h3>Result</h3><div>Out of the 27 cases of ES in our database, 15 had both cytology and corresponding histopathology. Of these 15 cases, Fine Needle Aspiration Cytology (FNAC) was indicated for primary diagnosis in 4 cases, for recurrent settings in 5 cases, and metastatic settings in 6 cases. Immunohistochemistry was correlated wherever available. In 8 cases, retrospective immunohistochemistry was performed for confirmation of epithelioid sarcoma.</div></div><div><h3>Conclusion</h3><div>FNAC is a valuable tool in the recurrent and metastatic settings of epithelioid sarcoma. However, for primary diagnosis, it is helpful but not diagnostic, as various morphologies can be observed and several differential diagnoses must be taken into account.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 4","pages":"Article 100831"},"PeriodicalIF":0.5,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144931996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Management of second opinions in pathology: Recommendations of the Spanish Society of Anatomical Pathology (SEAP). Second opinions in pathology 病理第二意见的管理:西班牙解剖病理学会(SEAP)的建议。病理第二意见
IF 0.5 Q4 Medicine Pub Date : 2025-09-03 DOI: 10.1016/j.patol.2025.100837
Francesc Tresserra , Isabel Colmenero , Mar Iglesias , Luis Ortega , Jordi Temprana-Salvador , Antonio Martínez Lorente , Carme Dinares , Empar Mayordomo , Maria Dolores Lozano , Xavier Matias Guiu , Santiago Ramon y Cajal

Introduction

As diagnostic complexity in pathology increases, mainly in cancer diagnoses, the demand for second opinions from specialized and highly qualified centres also increases. There is a certain lack of uniformity in the criteria for carrying out these consultations, managing the material under review, and the responses from the consultant centre.

Material and methods

In order to establish recommendations on the aspects to be considered both by the pathologist or referring centre and by the pathologist or consultant centre, a group of experts from the Spanish Society of Anatomical Pathology conducted a literature review of guidelines and recommendations from other societies and relevant published articles. Based on this review, consensus criteria have been established.

Results

Recommendations are provided on how second opinions in pathology should be managed by both the referring and consultant pathologists, including aspects of material submission and funding.

Conclusion

Second opinions should be carried out following standardized guidelines for both the referring and consultant pathologists, covering referral, management of discrepancies, and funding to ensure a consistent system.
随着病理诊断复杂性的增加,主要是癌症诊断,对专业和高质量中心的第二意见的需求也在增加。在进行这些协商、管理所审查的材料和咨询中心的答复的标准方面,有些缺乏统一。材料和方法为了确定病理学家或转诊中心以及病理学家或咨询中心应考虑的方面的建议,来自西班牙解剖病理学学会的一组专家对其他学会的指南和建议以及相关已发表的文章进行了文献综述。在此审查的基础上,建立了协商一致的标准。结果对转诊医师和会诊医师如何管理病理学第二意见提出了建议,包括材料提交和资金方面的建议。结论转诊病理学家和会诊病理学家均应按照标准化的指导方针开展第二意见,包括转诊、差异管理和资金,以确保系统的一致性。
{"title":"Management of second opinions in pathology: Recommendations of the Spanish Society of Anatomical Pathology (SEAP). Second opinions in pathology","authors":"Francesc Tresserra ,&nbsp;Isabel Colmenero ,&nbsp;Mar Iglesias ,&nbsp;Luis Ortega ,&nbsp;Jordi Temprana-Salvador ,&nbsp;Antonio Martínez Lorente ,&nbsp;Carme Dinares ,&nbsp;Empar Mayordomo ,&nbsp;Maria Dolores Lozano ,&nbsp;Xavier Matias Guiu ,&nbsp;Santiago Ramon y Cajal","doi":"10.1016/j.patol.2025.100837","DOIUrl":"10.1016/j.patol.2025.100837","url":null,"abstract":"<div><h3>Introduction</h3><div>As diagnostic complexity in pathology increases, mainly in cancer diagnoses, the demand for second opinions from specialized and highly qualified centres also increases. There is a certain lack of uniformity in the criteria for carrying out these consultations, managing the material under review, and the responses from the consultant centre.</div></div><div><h3>Material and methods</h3><div>In order to establish recommendations on the aspects to be considered both by the pathologist or referring centre and by the pathologist or consultant centre, a group of experts from the Spanish Society of Anatomical Pathology conducted a literature review of guidelines and recommendations from other societies and relevant published articles. Based on this review, consensus criteria have been established.</div></div><div><h3>Results</h3><div>Recommendations are provided on how second opinions in pathology should be managed by both the referring and consultant pathologists, including aspects of material submission and funding.</div></div><div><h3>Conclusion</h3><div>Second opinions should be carried out following standardized guidelines for both the referring and consultant pathologists, covering referral, management of discrepancies, and funding to ensure a consistent system.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 4","pages":"Article 100837"},"PeriodicalIF":0.5,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144932123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Metastatic melanoma mimicking an angiomatoid fibrous histiocytoma 类似血管瘤样纤维组织细胞瘤的转移性黑色素瘤
IF 0.5 Q4 Medicine Pub Date : 2025-09-02 DOI: 10.1016/j.patol.2025.100841
Caterina Fumagalli, Anna Mozos, Justyna Szafranska, Ruth Orellana
Melanoma is known for its remarkable histopathological heterogeneity, capable of mimicking both epithelial and mesenchymal neoplasms. We report the case of a 46-year-old male who was externally diagnosed with sarcoma and presented with a subcutaneous pre-sternal mass comprising a proliferation of epithelioid–histiocytoid cells, hemosiderin deposition, and chronic inflammation, closely resembling an angiomatoid fibrous histiocytoma (AFH). A peripheral pseudo-capsule and a pericapsular lymphocytic cuff were also observed. Immunohistochemically, the tumour cells were focally positive for desmin and S100 protein, but negative for EMA, CD99 and CD68. Further studies demonstrated SOX10 positivity and identified a BRAF p.V600E mutation, findings consistent with melanoma. Review of the external clinical history confirmed that the patient had undergone surgery for a melanoma near the current lesion site three years earlier. In conclusion, the integration of histology, immunohistochemistry, molecular studies and clinical history is essential for the accurate diagnosis of melanoma and for avoiding misdiagnosis.
黑色素瘤以其显著的组织病理学异质性而闻名,能够模仿上皮和间充质肿瘤。我们报告一例46岁男性,外部诊断为肉瘤,表现为胸骨前皮下肿块,包括上皮样组织细胞样细胞增生,含铁血黄素沉积和慢性炎症,与血管瘤样纤维组织细胞瘤(AFH)非常相似。外周假囊和囊周淋巴细胞袖带也被观察到。免疫组化结果显示,肿瘤细胞局部desmin和S100蛋白阳性,而EMA、CD99和CD68蛋白阴性。进一步的研究证实SOX10阳性,并鉴定出BRAF p.V600E突变,结果与黑色素瘤一致。外部临床病史的回顾证实,三年前,患者在当前病变部位附近接受了黑色素瘤手术。总之,结合组织学、免疫组织化学、分子研究和临床病史对黑色素瘤的准确诊断和避免误诊至关重要。
{"title":"Metastatic melanoma mimicking an angiomatoid fibrous histiocytoma","authors":"Caterina Fumagalli,&nbsp;Anna Mozos,&nbsp;Justyna Szafranska,&nbsp;Ruth Orellana","doi":"10.1016/j.patol.2025.100841","DOIUrl":"10.1016/j.patol.2025.100841","url":null,"abstract":"<div><div>Melanoma is known for its remarkable histopathological heterogeneity, capable of mimicking both epithelial and mesenchymal neoplasms. We report the case of a 46-year-old male who was externally diagnosed with sarcoma and presented with a subcutaneous pre-sternal mass comprising a proliferation of epithelioid–histiocytoid cells, hemosiderin deposition, and chronic inflammation, closely resembling an angiomatoid fibrous histiocytoma (AFH). A peripheral pseudo-capsule and a pericapsular lymphocytic cuff were also observed. Immunohistochemically, the tumour cells were focally positive for desmin and S100 protein, but negative for EMA, CD99 and CD68. Further studies demonstrated SOX10 positivity and identified a <em>BRAF</em> p.V600E mutation, findings consistent with melanoma. Review of the external clinical history confirmed that the patient had undergone surgery for a melanoma near the current lesion site three years earlier. In conclusion, the integration of histology, immunohistochemistry, molecular studies and clinical history is essential for the accurate diagnosis of melanoma and for avoiding misdiagnosis.</div></div>","PeriodicalId":39194,"journal":{"name":"Revista Espanola de Patologia","volume":"58 4","pages":"Article 100841"},"PeriodicalIF":0.5,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144925619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Revista Espanola de Patologia
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