Abstract：
To prospectively assess the impact of expert pathological review of skin adnexal carcinoma diagnosis in France.
From 2014 to 2019, 2573 samples from patients with newly diagnosed or suspected skin adnexal carcinomas were reviewed prospectively by expert pathologists through the national CARADERM (CAncers RAres DERMatologiques) network. Changes in diagnosis between referral and expert review were analysed regarding their potential impact on patient care or prognosis.
The samples comprised 2205 newly diagnosed adnexal carcinomas, 129 benign adnexal tumours, 136 basal cell carcinomas, 74 squamous cell carcinomas, six cutaneous metastases and 13 other malignancies. There were 930 (42%) sweat gland carcinomas, of which porocarcinoma (261; 11.8%), microcystic adnexal carcinoma (125; 5.7%) and hidradenocarcinoma (109; 4.9%) were the most frequent subtypes; 778 (35%) hair follicle carcinomas, 238 (11%) sebaceous carcinomas and 212 (10%) extramammary Paget diseases/mammary-like anogenital gland adenocarcinomas. A diagnostic change between referral and expert review occurred in 503 (21.3%) patients, significantly higher for cases sent with a provisional diagnosis seeking an expert second opinion (45.7%) than for cases sent with a formal diagnosis (2.8%) (p < .0001). Sweat gland carcinomas were more prone to diagnostic discrepancies than other tumours (p < .0001), including 1.8% of patients with sweat gland carcinoma subtype misclassification with predicted clinical impact. Changes between benign and malignant conditions occurred in 117 samples (5% of patients).
The study provides a unique description of the distribution of skin adnexal carcinomas and highlights the importance of expert review for these rare cancers. Optimal clinical management was impacted in a significant proportion of patients.
From 2014 to 2019, 2573 samples from patients with newly diagnosed or suspected skin adnexal carcinomas were reviewed prospectively by expert pathologists through the national CARADERM (CAncers RAres DERMatologiques) network. Changes in diagnosis between referral and expert review were analysed regarding their potential impact on patient care or prognosis.
The samples comprised 2205 newly diagnosed adnexal carcinomas, 129 benign adnexal tumours, 136 basal cell carcinomas, 74 squamous cell carcinomas, six cutaneous metastases and 13 other malignancies. There were 930 (42%) sweat gland carcinomas, of which porocarcinoma (261; 11.8%), microcystic adnexal carcinoma (125; 5.7%) and hidradenocarcinoma (109; 4.9%) were the most frequent subtypes; 778 (35%) hair follicle carcinomas, 238 (11%) sebaceous carcinomas and 212 (10%) extramammary Paget diseases/mammary-like anogenital gland adenocarcinomas. A diagnostic change between referral and expert review occurred in 503 (21.3%) patients, significantly higher for cases sent with a provisional diagnosis seeking an expert second opinion (45.7%) than for cases sent with a formal diagnosis (2.8%) (p < .0001). Sweat gland carcinomas were more prone to diagnostic discrepancies than other tumours (p < .0001), including 1.8% of patients with sweat gland carcinoma subtype misclassification with predicted clinical impact. Changes between benign and malignant conditions occurred in 117 samples (5% of patients).
The study provides a unique description of the distribution of skin adnexal carcinomas and highlights the importance of expert review for these rare cancers. Optimal clinical management was impacted in a significant proportion of patients.
摘要：
前瞻性评估专家病理学审查对法国皮肤附件癌诊断的影响。
从2014年到2019年，专家病理学家通过国家CARADERM（CAncersRAresDERMatologiques）网络对来自新诊断或疑似皮肤附件癌患者的2573份样本进行了前瞻性审查。分析了转诊和专家审查之间的诊断变化对患者护理或预后的潜在影响。
样本包括2205个新诊断的附件癌，129个良性附件肿瘤，136例基底细胞癌，74鳞状细胞癌，6例皮肤转移瘤和13例其他恶性肿瘤.有930例（42%）汗腺癌，其中骨癌（261；11.8%），最常见的亚型为微囊型附件癌（125;5.7％）和上皮型腺癌（109;4.9％）；778（35％）毛囊癌，238（11％）皮脂腺癌和212（10％）乳腺外Paget病/乳腺样肛门生殖器腺癌。503例（21.3%）患者发生转诊和专家审查之间的诊断变化，经临时诊断并寻求专家第二意见的病例(45.7%)明显高于经正式诊断的病例(2.8%)(p<.0001)。汗腺癌比其他肿瘤更容易出现诊断差异（p<0.0001），包括1.8%的患者与预期的临床影响的汗腺癌亚型错误分类。良性和恶性状况之间的变化发生在117个样本（5％的患者）中。
该研究提供了皮肤附件癌分布的独特描述，并强调了专家审查这些罕见癌症的重要性。最佳临床管理在很大一部分患者中受到影响。
从2014年到2019年，专家病理学家通过国家CARADERM（CAncersRAresDERMatologiques）网络对来自新诊断或疑似皮肤附件癌患者的2573份样本进行了前瞻性审查。分析了转诊和专家审查之间的诊断变化对患者护理或预后的潜在影响。
样本包括2205个新诊断的附件癌，129个良性附件肿瘤，136例基底细胞癌，74鳞状细胞癌，6例皮肤转移瘤和13例其他恶性肿瘤.有930例（42%）汗腺癌，其中骨癌（261；11.8%），最常见的亚型为微囊型附件癌（125;5.7％）和上皮型腺癌（109;4.9％）；778（35％）毛囊癌，238（11％）皮脂腺癌和212（10％）乳腺外Paget病/乳腺样肛门生殖器腺癌。503例（21.3%）患者发生转诊和专家审查之间的诊断变化，经临时诊断并寻求专家第二意见的病例(45.7%)明显高于经正式诊断的病例(2.8%)(p<.0001)。汗腺癌比其他肿瘤更容易出现诊断差异（p<0.0001），包括1.8%的患者与预期的临床影响的汗腺癌亚型错误分类。良性和恶性状况之间的变化发生在117个样本（5％的患者）中。
该研究提供了皮肤附件癌分布的独特描述，并强调了专家审查这些罕见癌症的重要性。最佳临床管理在很大一部分患者中受到影响。
