Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania.
Medical student at Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania.
JAMA Dermatol. 2018 Jan 1;154(1):77-81. doi: 10.1001/jamadermatol.2017.4700.
Balloon cell melanoma is a rare subtype of melanoma that is underrecognized clinically and is challenging to diagnose on histologic studies.
To further characterize the clinical, dermoscopic, and histopathologic features of balloon cell melanomas and their correlation to gene expression.
DESIGN, SETTING, AND PARTICIPANTS: Case series of 2 patients with balloon cell melanoma whose medical records were retrieved from the database of Thomas Jefferson University Dermatopathology Center in Philadelphia, Pennsylvania. Both cases had been referred to the institution's dermatopathology laboratory and provided complete data on clinical, dermoscopic, and histopathologic findings and gene-expression profiles.
Dermoscopic findings, histopathologic findings, and results of gene expression tests.
In the 2 patients included, translucent hypopigmented areas on gross examination and a translucent white-gray veil and dull yellow globules on dermoscopic examination correlated with the balloon cell melanocytic region demonstrated on histologic studies with hematoxylin-eosin stain. Specifically, dull yellow globules corresponded to the balloon cell melanocytic nests. Both lesions presented with a second, morphologically distinct population of melanocytes, common in balloon cell melanocytic neoplasms. In both cases, a prominent junctional component that consisted of cells demonstrating ample clear-to-granular cytoplasm and a central nucleus were present. Cytologic atypia was minimal to lacking in both cases, and architectural disorder served as a better clue to the diagnosis. Findings of a gene expression profiling test corroborated the diagnosis in both cases.
Balloon cell melanomas may present with characteristic clinical and dermoscopic findings, and a gene expression profiling test may provide additional useful diagnostic information in cases that are difficult to interpret.
气球细胞黑素瘤是一种罕见的黑素瘤亚型，临床上认识不足，组织学研究诊断具有挑战性。
进一步描述气球细胞黑素瘤的临床、皮肤镜和组织病理学特征及其与基因表达的相关性。
设计、地点和参与者：来自宾夕法尼亚州费城托马斯杰斐逊大学皮肤病学中心数据库的 2 例气球细胞黑素瘤患者的病例系列，对其病历进行了检索。这两个病例均被转诊至该机构的皮肤病理实验室，并提供了有关临床、皮肤镜和组织病理学发现以及基因表达谱的完整数据。
皮肤镜表现、组织病理学发现和基因表达测试结果。
在纳入的 2 例患者中，大体检查时的半透明性色素减退区和皮肤镜检查时的半透明灰白色面纱和暗黄色小球与苏木精-伊红染色的组织学研究中显示的气球细胞黑素细胞区域相对应。具体来说，暗黄色小球对应于气球细胞黑素细胞巢。这两种病变都表现出第二种形态上不同的黑素细胞群，这在气球细胞黑素细胞肿瘤中很常见。在这两种情况下，均存在一个突出的交界性成分，该成分由表现出丰富的透明至颗粒状细胞质和中央核的细胞组成。在这两种情况下，细胞学异型性均最小或缺乏，而结构紊乱则是更好的诊断线索。基因表达谱测试的结果在两种情况下均证实了诊断。
气球细胞黑素瘤可能具有特征性的临床和皮肤镜表现，基因表达谱测试可能为难以解释的病例提供额外的有用诊断信息。
