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[Hepatocellular carcinoma: Histological and molecular classifications]. [肝细胞癌:组织学和分子分类]。
IF 0.5 4区 医学 Q4 PATHOLOGY Pub Date : 2024-11-20 DOI: 10.1016/j.annpat.2024.10.004
Aurélie Beaufrère, Valérie Paradis

Hepatocellular carcinoma (HCC) is the most common primary malignant liver tumour, with a poor prognosis, ranking third for cancer mortality worldwide. HCC is a morphologically and molecularly heterogeneous tumour. This update aims to address this heterogeneity by describing the different histological and molecular subtypes of HCC. Morphologically, eight subtypes have been described according to the WHO classification: steatohepatitic, macrotrabecular massive (MTM), clear cell, chromophobe, scirrhous, fibrolamellar, lymphocyte-rich and neutrophil-rich. Other HCCs are classified as non-specific (not otherwise specified or NOS). These subtypes may be associated with a different prognosis, particularly the MTM, which displays a poorer survival than the other subtypes. Genomically, most HCCs present mutations in the TERT promoter, while other mutations occured later in carcinogenesis, such as TP53 and CTNNB1. TP53 mutated HCCs are associated with a poor prognosis and the MTM subtype. From a transcriptomic standpoint, two classifications are particularly noteworthy, as they are associated with both prognosis (proliferative vs. non-proliferative classification) and clinical, morphological and genomic tumour characteristics (G1-G6 classification). In conclusion, the morphological heterogeneity of HCC, directly linked to molecular heterogeneity, is associated with prognosis. This strongly supports the specification of the different HCC subtypes in our reports.

肝细胞癌(HCC)是最常见的原发性肝脏恶性肿瘤,预后不良,在全球癌症死亡率中排名第三。HCC 是一种形态和分子异质性肿瘤。本次更新旨在通过描述 HCC 的不同组织学和分子亚型来解决这种异质性。根据世界卫生组织的分类,在形态学上已描述了八种亚型:脂肪肝型、巨块型(MTM)、透明细胞型、嗜色细胞型、坏死型、纤维细胞型、淋巴细胞丰富型和中性粒细胞丰富型。其他 HCC 被归类为非特异性(未另作规定或 NOS)。这些亚型可能与不同的预后有关,尤其是 MTM,其存活率低于其他亚型。从基因组学来看,大多数 HCC 存在 TERT 启动子突变,而其他突变发生在癌变后期,如 TP53 和 CTNNB1。TP53 突变的 HCC 与预后不良和 MTM 亚型有关。从转录组学的角度来看,有两种分类尤其值得注意,因为它们与预后(增殖性与非增殖性分类)以及临床、形态和基因组肿瘤特征(G1-G6 分类)都有关联。总之,与分子异质性直接相关的 HCC 形态异质性与预后有关。这有力地支持了我们报告中对不同 HCC 亚型的划分。
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引用次数: 0
[Of muscle and bone: Diagnostic challenge of an uncommonly located rhabdomyosarcoma]. [肌肉与骨骼:位置罕见的横纹肌肉瘤的诊断难题]。
IF 0.5 4区 医学 Q4 PATHOLOGY Pub Date : 2024-11-13 DOI: 10.1016/j.annpat.2024.10.003
Simon Phélinas, Marie Karanian, Nadège Corradini, Aude Excoffier, Sara Cabet, Frédérique Dijoud

Rhabdomyosarcomas form a heterogeneous group of malignant soft tissue tumors characterized by immature striated muscle differentiation. Epithelioid and spindle cell rhabdomyosarcoma is a recently described entity, mainly localized intraosseously and predominantly found in young patients. Its late diagnosis and high aggressiveness confer a grim prognosis to this tumor, highlighting the importance of early recognition and appropriate management. We present herein the clinical, histopathological, immunohistochemical, and molecular aspects of this entity through a case of misleading presentation.

横纹肌肉瘤是一类异质性恶性软组织肿瘤,其特点是横纹肌分化不成熟。上皮样和纺锤形细胞横纹肌肉瘤是最近才被描述的一种实体瘤,主要发生在骨内,且主要见于年轻患者。这种肿瘤诊断较晚,且具有高度侵袭性,预后较差,因此强调早期识别和适当治疗的重要性。我们在此通过一例误导性病例,从临床、组织病理学、免疫组化和分子学等方面介绍了这种肿瘤。
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引用次数: 0
[Undifferentiated small round cell sarcomas of bone and soft tissue]. [骨和软组织未分化小圆形细胞肉瘤]。
IF 0.5 4区 医学 Q4 PATHOLOGY Pub Date : 2024-11-06 DOI: 10.1016/j.annpat.2024.09.012
Lukas Marcelis, Rafael Sciot

In the 2020 5th edition of the World Health Organization classification of soft tissue and bone tumours a major reorganization of Undifferentiated Small Round Cell Sarcomas (USRCS) took place based on the underlying molecular features. The classification now recognizes Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusions, CIC-rearranged sarcoma and sarcoma with BCOR alterations. The focus on these genetic alterations highlights the importance of molecular techniques in the diagnosis of these entities. Knowledge of these features can drastically reduce the time to diagnosis and avoid potential misdiagnosis. Molecular diagnostic capabilities should not be limited to an overall small number of centres worldwide as is reflected by the WHO's recognition of 'essential' and 'desirable' diagnostic criteria. A good knowledge of the usual histomorphology, uncommon variants and diagnostic pitfalls remains essential even in centres with access to a full molecular testing arsenal. This review aims to give an overview of the current classification of USRCS not by going over each entity, but instead going over the molecular, morphological, immunophenotypic and clinical features step by step to allow easy comparison of these features between the separate entities.

在 2020 年世界卫生组织第五版软组织和骨肿瘤分类中,根据基本的分子特征对未分化小圆形细胞肉瘤(USRCS)进行了重大重组。现在,该分类承认尤文肉瘤、EWSR1-non-ETS 融合的圆细胞肉瘤、CIC 重组肉瘤和 BCOR 改变的肉瘤。对这些基因改变的关注凸显了分子技术在这些实体诊断中的重要性。了解这些特征可大大缩短诊断时间,避免潜在误诊。正如世界卫生组织认可的 "基本 "和 "理想 "诊断标准所反映的那样,分子诊断能力不应局限于全球少数几个中心。即使在拥有全套分子检测设备的中心,对常见组织形态学、不常见变异和诊断误区的充分了解仍然至关重要。本综述旨在概述当前的 USRCS 分类,而不是逐一介绍每个实体,而是逐步介绍分子、形态、免疫表型和临床特征,以便于比较不同实体之间的这些特征。
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引用次数: 0
Leçons sur les réactions aux produits de comblement à visée esthétique [关于美容填充剂反应的课程]。
IF 0.5 4区 医学 Q4 PATHOLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.annpat.2024.09.005
Françoise Plantier
Tout produit injecté pour comblement des rides peut se comporter comme un corps étranger et provoquer des réactions granulomateuses inesthétiques. Le sujet est en constante évolution, soumis aux aléas du marché. L’acide hyaluronique est le plus injecté car résorbable et probablement le moins « toxique ». En cas de développement d’une sarcoïdose ou d’un trouble immunitaire, et en cas de vaccination contre la Covid, des granulomes peuvent se développer même en cas d’injections très anciennes.
Any product injected to fill wrinkles can behave like a foreign body and cause unsightly granulomatous reactions. The subject is constantly evolving, subject to the vagaries of the market. Hyaluronic acid is the most injected product because it is resorbable and probably the least “toxic”. In the event of sarcoidosis or an immune disorder, and in the event of vaccination against Covid, granulomas can develop even after very old injections.
任何用于填充皱纹的注射产品都可能像异物一样,引起难看的肉芽肿反应。这个问题一直在变化,受制于变幻莫测的市场。透明质酸是注射最多的产品,因为它可以吸收,而且可能是 "毒性 "最小的。如果出现肉样瘤病或免疫失调,以及接种 Covid 疫苗,即使是很久之前的注射也会出现肉芽肿。
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引用次数: 0
Éditorial [社论].
IF 0.5 4区 医学 Q4 PATHOLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.annpat.2024.10.001
Pr Audrey Rousseau
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引用次数: 0
Angiopathie amyloïde cérébroméningée [脑膜淀粉样血管病]。
IF 0.5 4区 医学 Q4 PATHOLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.annpat.2024.09.008
Thibaut Wolf , Agathe Chammas , Béatrice Lannes , Benoît Lhermitte
L’angiopathie amyloïde représente 20 % des causes d’hématome intra-parenchymateux. L’examen histopathologique doit rechercher attentivement les anomalies vasculaires caractéristiques et l’examen immunohistochimique avec un anticorps anti-peptide βA4 doit être réalisé de façon systématique. En pratique, les produits d’évacuation d’un hématome intracérébral doivent être inclus en totalité, car les lésions peuvent être focales. L’existence d’antécédents neurochirurgicaux peut faire suggérer une étiologie iatrogène chez les patients de moins de 55 ans.
Amyloid angiopathy represents 20% of causes of intraparenchymal hematoma. The histopathological examination must carefully look for characteristic vascular abnormalities and the immunohistochemistry for the βA4 peptide must be carried out systematically. In practice, the evacuation products of an intracerebral hematoma must be fully included, because the lesions may be focal. The existence of a neurosurgical history may suggest an iatrogenic etiology when patients are less than 55 years-old.
淀粉样血管病变占实质内血肿病因的 20%。组织病理学检查必须仔细寻找特征性血管异常,必须系统地进行βA4肽免疫组化。实际上,脑内血肿的排空产物必须完全包括在内,因为病变可能是局灶性的。如果患者年龄小于 55 岁,有神经外科病史可能提示病因是人为的。
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引用次数: 0
Carcinome à cellules hautes et à polarité inversée du sein : à propos d’un cas [反极性乳腺高细胞癌:病例报告]。
IF 0.5 4区 医学 Q4 PATHOLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.annpat.2024.01.001
<div><div>Le carcinome à cellules hautes et à polarité inversée du sein, anciennement dénommé « carcinome papillaire solide à polarité inversée » est une entité rare, récemment introduite dans la dernière édition de la classification OMS des tumeurs du sein. Il s’agit d’une tumeur de phénotype triple négatif et de diagnostic difficile. Bien que peu de cas ont été rapportés dans la littérature, la connaissance de cette tumeur mammaire est essentielle afin de la distinguer des autres carcinomes triples négatifs, de moins bon pronostic. Nous rapportons un cas de carcinome à cellules hautes et à polarité inversée du sein chez une patiente âgée de 43 ans, sans antécédents néoplasiques mammaires ni masse palpable à l’examen clinique. La tumeur a été découverte sur une écho-mammographie de dépistage qui a révélé une lésion classée ACR 4b. Une microbiopsie de cette lésion a conclu à une prolifération papillaire dont l’exérèse était souhaitable. Une tumorectomie a été réalisée. Les études anatomopathologique et immunohistochimique de la pièce opératoire ont confirmé le diagnostic de carcinome à cellules hautes et à polarité inversée exprimant la calrétinine et l’IDH1. Vu la rareté de cette entité, il n’existe pas de standard thérapeutique. Dans notre cas, une mastectomie sans curage ganglionnaire a été réalisée. Le bilan d’extension était négatif et la patiente n’a pas reçu de traitement adjuvant. Après un recul clinique de 12 mois, aucune récidive n’a été notée. À travers cette observation, nous précisons les caractéristiques histopathologiques, immunohistochimiques et moléculaires de cette entité rare.</div></div><div><div>Reverse polarity high-cell carcinoma of the breast, formerly known as reverse polarity solid papillary carcinoma, is a rare entity recently introduced into the latest edition of the WHO classification of breast tumors. Its phenotype is triple-negative, and its diagnosis difficult. Although few cases have been reported in the literature, knowledge of this breast tumor is essential to distinguish it from other triple-negative carcinomas, which have a poorer prognosis. We report a case of high-cell, inverted-polarity carcinoma of the breast in a 43-year-old female patient with no history of breast neoplasia and no palpable mass on clinical examination. The tumour was discovered following a screening echomammogram, which revealed a lesion classified ACR 4b. A microbiopsy of this lesion concluded that it was a papillary proliferation that should be removed. A lumpectomy was performed. Histopathological and immunohistochemical studies of the surgical specimen confirmed the diagnosis of high-cell, reverse-polarity carcinoma expressing calretinin and IDH1. Given the rarity of this entity, there is no standard treatment. In our case, a mastectomy without lymph node curage was performed. The extension work-up was negative and the patient received no adjuvant treatment. After 12 months, the patient is in complete remission. In this case report,
乳腺反极性高细胞癌(以前称为反极性实性乳头状癌)是一种罕见的肿瘤,最近被纳入最新版的世界卫生组织乳腺肿瘤分类。其表型为三阴性,诊断困难。虽然文献中报道的病例很少,但了解这种乳腺肿瘤对将其与预后较差的其他三阴性癌区分开来至关重要。我们报告了一例高细胞、倒极性乳腺癌病例,患者女性,43 岁,无乳腺肿瘤病史,临床检查未触及肿块。肿瘤是在筛查超声造影后发现的,造影显示病变属于 ACR 4b。对该病灶进行微生物检查后得出结论:这是一个乳头状增生,应该切除。于是进行了肿瘤切除术。手术标本的组织病理学和免疫组化研究证实了高细胞、反极性癌的诊断,该癌表达钙黄蛋白和 IDH1。鉴于这种肿瘤的罕见性,目前还没有标准的治疗方法。在我们的病例中,我们进行了乳房切除术,但未切除淋巴结。延伸检查结果为阴性,患者没有接受辅助治疗。12 个月后,患者病情完全缓解。在本病例报告中,我们描述了这一罕见病例的组织病理学、免疫组化和分子特征。
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引用次数: 0
Thésaurismoses adultes et pédiatriques : maladies de surcharge lysosomale, surcharges lipidiques et glycogénoses [成人和小儿胼胝体病:溶酶体、脂质和糖原贮积疾病]。
IF 0.5 4区 医学 Q4 PATHOLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.annpat.2024.09.010
Sophie Collardeau-Frachon
Les thésaurismoses ou maladies de surcharge sont des maladies génétiques rares dues à une accumulation anormale d’un composé organique ou de son métabolite dans les cellules. Ces affections résultent soit d’un défaut de catabolisme dû à une dysfonction enzymatique, soit d’un défaut en protéines de transport. Elles incluent les maladies de surcharge lysosomale, les surcharges lipidiques ou dyslipidémies, et les glycogénoses. Si le diagnostic est le plus souvent clinicobiologique, il peut être posé par le pathologiste lorsque la symptomatologie clinique est atypique ou les examens biochimiques ou génétique d’interprétation difficile. Pour un diagnostic optimal, il est impératif de congeler une partie des prélèvements. Les appositions et les techniques de colorations spéciales peuvent aussi aider au diagnostic. Le diagnostic étant multidisciplinaire, les interactions avec les cliniciens, biochimistes et généticiens sont essentielles.
Thesaurismosis or storage diseases are rare genetic disorders due to an abnormal accumulation of an organic compound or its metabolite within cells. These conditions are either secondary to a defect in catabolism caused by enzymatic dysfunction or to a deficiency in transport proteins. They encompass lysosomal storage diseases, lipid storage diseases or dyslipidemias, and glycogen storage disorders or glycogenoses. Diagnosis is typically based on clinical and biological anomalies but may be made or suggested by the pathologist when symptoms are atypical or when biochemical or genetic tests are challenging to interpret. For accurate diagnosis, it is crucial to freeze a portion of the samples. Special staining and electronic microscopy can also aid in the diagnostic process. As the diagnosis is multidisciplinary, collaboration with clinicians, biochemists and geneticists is essential.
贮积症或贮积病是一种罕见的遗传疾病,是由于有机化合物或其代谢物在细胞内异常贮积造成的。这些疾病要么是继发于酶功能障碍导致的分解代谢缺陷,要么是继发于转运蛋白缺乏。它们包括溶酶体贮积症、脂质贮积症或血脂异常,以及糖原贮积症或糖原病。诊断通常以临床和生物学异常为基础,但当症状不典型或生化或基因检测难以解释时,病理学家可能会做出或建议做出诊断。为了准确诊断,冷冻部分样本至关重要。特殊染色和电子显微镜也有助于诊断过程。由于诊断涉及多个学科,因此与临床医生、生化学家和遗传学家的合作至关重要。
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引用次数: 0
Calcifications et métabolisme phosphocalcique [钙化和磷代谢]。
IF 0.5 4区 医学 Q4 PATHOLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.annpat.2024.09.004
Marie-Françoise Heymann
Les calcifications extra-osseuses correspondent à des dépôts ubiquitaires de sels calciques intra tissulaires entraînant une dysfonction du tissu ou de l’organe atteint. Il en existe deux types : les calcifications métastatiques et les calcifications dystrophiques. Leur mécanisme de formation se fait par mimétisme du processus de minéralisation physiologique avec une cellule « osteoblast-like ». La cause des calcifications extra-osseuses est variable et dépend des facteurs de risque. Si le sujet est jeune, il faudra penser à un syndrome génétique !
Extraosseous calcifications correspond to ubiquitous deposits of intra-tissue calcium salts leading to dysfunction of the affected tissue or organ. There are two types: metastatic calcifications and dystrophic calcifications. Their formation mechanism is by mimicking the physiological mineralization process with an “osteoblast-like” cell. The cause of extra-osseous calcification is variable and depends on risk factors. If the subject is young, you will have to think about a genetic syndrome!
骨外钙化是组织内钙盐的普遍沉积,会导致受影响组织或器官的功能障碍。钙化有两种类型:转移性钙化和萎缩性钙化。其形成机制是通过 "类成骨细胞 "模仿生理矿化过程。骨外钙化的原因多种多样,取决于风险因素。如果患者年轻,就必须考虑遗传综合征!
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引用次数: 0
Surcharges cutanées endogènes [内源性皮肤超负荷]。
IF 0.5 4区 医学 Q4 PATHOLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.annpat.2024.09.006
Nicolas Ortonne
<div><div>Comme dans les autres organes, le diagnostic des maladies de surcharge endogènes cutanées repose sur l’analyse histopathologique des lésions aidée de colorations spéciales, même si l’aspect clinique est parfois très évocateur. Les lésions sont parfois très discrètes pouvant s’intégrer dans le groupe des dermatoses « invisibles », comme pour l’amylose cutanée primitive maculeuse ou la calciphylaxie. La mélanose dermique superficielle ou incontinence pigmentaire traduit généralement le stade post-inflammatoire d’une dermatose lichénoïde dont l’évolution est chronique ou récidivante. Il convient d’effectuer systématiquement des niveaux de coupe pour rechercher des lésions actives d’intérêt diagnostique, une coloration par le bleu Alcian pour identifier une mucinose dermique (connectivites) et des marqueurs pan-T (érythème pigmenté fixe, mycosis fongoïde lichenoïde et vitiligo). Certaines dermatoses ont un impact pronostique, soit parce qu’elles témoignent d’une pathologie sous-jacente, les gammapathies monoclonales, notamment le myélome, étant une des affections les plus représentées dans ce contexte (amylose AL, xanthome et xanthogranulome, scléromyxœdème), soit parce qu’elles peuvent s’accompagner d’une atteinte viscérale (amylose AL, scléromyxœdème). La confrontation anatomoclinique est importante pour éliminer certains diagnostics différentiels, surtout pour les maladies engageant le pronostic vital : amylose nodulaire et amyloses cutanées primitives <em>versus</em> amylose AL systémique, mucinose papuleuse <em>versus</em> scléromyxœdème et panniculite calcifiante <em>versus</em> calciphylacie.</div></div><div><div>As in other organs, the diagnosis of endogenous cutaneous overload diseases is based on histopathological analysis of the lesions using special stainings, even if the clinical appearance is sometimes very suggestive. The lesions are sometimes very subtle and can be included in the group of “invisible” dermatoses, such as primary macular cutaneous amyloidosis or calciphylaxis. Superficial dermal melanosis or pigmentary incontinence generally reflects the post-inflammatory stage of a chronic or recurrent interface dermatitis. Section levels should be systematically performed to look for active lesions of diagnostic interest: Alcian blue staining to identify dermal mucinosis (connectivitis) and pan-T markers (fixed pigmented erythema, lichenoid mycosis fungoides, and vitiligo). Some pathologies have a prognostic impact, either because they reflect an underlying disease, monoclonal gammopathies, in particular myeloma, being one of the most common conditions in this context (AL amyloidosis, xanthoma and xanthogranuloma, scleromyxedema), or because they can be associated with visceral damage (AL amyloidosis, scleromyxedema). The clinical-pathological comparison is mandatory to rule out differential diagnoses, especially for life-threatening diseases: nodular amyloidosis and primary cutaneous amyloidosis <em>versus</em> systemic AL
与其他器官一样,内源性皮肤负荷过重症的诊断也是基于使用特殊染色对病变进行的组织病理学分析,即使临床表现有时具有很强的提示性。病变有时非常隐蔽,可归入 "隐形 "皮肤病,如原发性斑状皮肤淀粉样变性或钙化病。表皮黑色素沉着或色素失禁通常反映了慢性或复发性界面皮炎的炎症后阶段。应系统地进行切片检查,寻找有诊断意义的活动性病变:阿尔新蓝染色可鉴别真皮粘蛋白病(结缔组织炎)和泛T标记(固定色素性红斑、苔癣样真菌病和白癜风)。有些病理变化对预后有影响,因为它们反映了潜在的疾病,单克隆丙种球蛋白病,尤其是骨髓瘤,是这种情况下最常见的疾病之一(AL 淀粉样变性、黄疽和黄原细胞瘤、硬肌水肿),或者因为它们可能与内脏损害有关(AL 淀粉样变性、硬肌水肿)。临床病理对比是排除鉴别诊断的必备条件,尤其是对于危及生命的疾病:结节性淀粉样变性和原发性皮肤淀粉样变性与全身性AL淀粉样变性、丘疹性粘液变性与硬肌水肿、钙化性泛发炎与钙化性贫血。
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引用次数: 0
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Annales De Pathologie
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