Department of Pathology, Trousseau Hospital - CHRU Tours, Tours, France.
Department of Pathology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
Virchows Arch. 2019 Jan;474(1):111-115. doi: 10.1007/s00428-018-2415-0. Epub 2018 Sep 6.
Cutaneous spindle-cell neoplasms in adults as well as children represent a frequent dilemma for pathologists. Along this neoplasm spectrum, the differential diagnosis with CD34-positive proliferations can be challenging, particularly concerning neoplasms of fibrohistiocytic and fibroblastic lineages. In children, cutaneous and superficial soft-tissue neoplasms with CD34-positive spindle cells are associated with benign to intermediate malignancy potential and include lipofibromatosis, plaque-like CD34-positive dermal fibroma, fibroblastic connective tissue nevus, and congenital dermatofibrosarcoma protuberans. Molecular biology has been valuable in showing dermatofibrosarcoma protuberans and infantile fibrosarcoma that are characterized by COL1A1-PDGFB and ETV6-NTRK3 rearrangements respectively. We report a case of congenital CD34-positive dermohypodermal spindle-cell neoplasm occurring in a female infant and harboring a novel KHDRBS1-NTRK3 fusion. This tumor could belong to a new subgroup of pediatric cutaneous spindle-cell neoplasms, be an atypical presentation of a plaque-like CD34-positive dermal fibroma, of a fibroblastic connective tissue nevus, or represent a dermatofibrosarcoma protuberans with an alternative gene rearrangement.
成人和儿童的皮肤梭形细胞肿瘤对病理学家来说是一个常见的难题。在这个肿瘤谱中，与 CD34 阳性增殖的鉴别诊断具有挑战性，特别是涉及纤维组织细胞和纤维母细胞谱系的肿瘤。在儿童中，伴 CD34 阳性梭形细胞的皮肤和浅表软组织肿瘤具有良性至中度恶性潜能，包括脂肪瘤样纤维组织细胞瘤、斑块样 CD34 阳性真皮纤维瘤、纤维母细胞结缔组织神经纤维瘤和先天性隆突性皮肤纤维肉瘤。分子生物学在显示隆突性皮肤纤维肉瘤和婴儿纤维肉瘤方面具有重要价值，这两种肿瘤分别表现为 COL1A1-PDGFB 和 ETV6-NTRK3 重排。我们报告了一例发生在女性婴儿中的先天性 CD34 阳性真皮皮下梭形细胞肿瘤，其携带一种新型 KHDRBS1-NTRK3 融合。该肿瘤可能属于儿童皮肤梭形细胞肿瘤的一个新亚组，是斑块样 CD34 阳性真皮纤维瘤、纤维母细胞结缔组织神经纤维瘤的不典型表现，或者代表一种具有替代基因重排的隆突性皮肤纤维肉瘤。
