未经证实:家族性黑色素瘤中的Spitzoid形态与端粒维持基因(TMG)POT1的种系变异有关,表明端粒生物学和类体分化之间存在联系。
UNASSIGNED:为了评估家族性黑色素瘤病例是否与TMG中的种系变异相关(POT1,ACD,TERF2IP,和TERT)通常表现出类体形态。
UNASSIGNED:在本例系列中,如果4位皮肤病理学家中至少有3位在≥25%的肿瘤细胞中报告了这一发现,则将黑素瘤分类为具有类囊状形态。逻辑回归用于计算与来自美国国家癌症研究所皮肤病理学家先前审查的未匹配非携带者的家族性黑素瘤相比,类螺旋体形态的比值比(OR)。
UNASSIGNED:在77%(30个中的23个)中观察到类Spitzoid形态,75%(4个中的3个),50%(4个中的2个),和50%(2个中的1个)的黑色素瘤来自POT1,TERF2IP,ACD,TERT,分别。与非携带者(n=139黑色素瘤)相比,POT1携带者(OR=225.1,95%置信区间:51.7-980.5;P<.001)和TERF2IP患者,ACD,和TERT变异体(OR=82.4,95%置信区间:21.3-494.6;P<.001)具有增加的梭状体形态的几率。
未经评估:研究结果可能无法推广到非家族性黑色素瘤病例。
未经证实:家族性黑素瘤中的Spitzoid形态可能提示TMG的种系改变。
UNASSIGNED: Spitzoid morphology in familial melanoma has been associated with germline variants in POT1, a telomere maintenance gene (TMG), suggesting a link between telomere biology and spitzoid differentiation.
UNASSIGNED: To assess if familial melanoma cases associated with germline variants in TMG (POT1, ACD, TERF2IP, and TERT) commonly exhibit spitzoid morphology.
UNASSIGNED: In this case series, melanomas were classified as having spitzoid morphology if at least 3 of 4 dermatopathologists reported this finding in ≥25% of tumor cells. Logistic regression was used to calculate odds ratios (OR) of spitzoid morphology compared to familial melanomas from unmatched noncarriers that were previously reviewed by a National Cancer Institute dermatopathologist.
UNASSIGNED: Spitzoid morphology was observed in 77% (23 of 30), 75% (3 of 4), 50% (2 of 4), and 50% (1 of 2) of melanomas from individuals with germline variants in POT1, TERF2IP, ACD, and TERT, respectively. Compared to noncarriers (n = 139 melanomas), POT1 carriers (OR = 225.1, 95% confidence interval: 51.7-980.5; P < .001) and individuals with TERF2IP, ACD, and TERT variants (OR = 82.4, 95% confidence interval: 21.3-494.6; P < .001) had increased odds of spitzoid morphology.
UNASSIGNED: Findings may not be generalizable to nonfamilial melanoma cases.
UNASSIGNED: Spitzoid morphology in familial melanoma could suggest germline alteration of TMG.