Buccoliero Anna Maria, Giunti Laura, Ponticelli Abramo, Innocenti Lorenzo, Ricci Franco, Cetica Valentina, Tirinnanzi Bianca, Moscardi Selene, Stagi Stefano, Sardi Iacopo, Mussa Federico, Genitori Lorenzo, Scagnet Mirko
Clin Neuropathol. 2025 Jul-Aug;44(4):143-152. doi: 10.5414/NP301685.
Our purpose was to provide a clinical-pathological overview, evaluate the prognostic value of Ki-67 and p53 in pediatric-juvenile pituitary neuroendocrine tumors (PitNETs) and explore the incidence of somatic variants in SF3B1 in pediatric-juvenile lactotroph PitNET. We present a clinical, morphological, immunohistochemical, and molecular study of 30 patients aged 8 - 20 years (16 females, 53%; 14 males, 47%). Clinical data were available for 21 patients (70%). Nine patients (43%) had mass effect symptoms. Imaging was available for 25 cases (83%). 21 patients (84%) had macro-PitNET or giant PitNET. Most tumors were lactotroph PitNETs (22 cases, 73%). Nine patients out of 22 lactotroph PitNET (41%) were male. Ki-67 and p53 immunostaining were performed in 27 cases. 15 tumors (56%) were p53 positive and exhibited a high Ki-67 index. Of these, 12 tumors (80%) were macro-PitNETs or giant PitNETs. Eight tumors (30%) were p53 negative and had low Ki-67 index, with 5 of these classified as macro-PitNETs (100% of the cases for which this data was available). Genetic analysis of the recurrent c.1874G>A p.Arg625His was negative in all 15 tested tumors. In conclusion, pediatric-juvenile PitNETs are often large lesions causing mass effects in almost half of the cases. In our cohort, lactotroph PitNETs were the most frequent PitNETs and present without sex predilection. mutations, documented in a proportion of adult lactotroph PitNETs, were not observed in our cohort, potentially hinting at a different molecular background. Our results did not reveal any association between Ki-67 and p53 status and tumor size or invasiveness in pediatric-juvenile PitNETs.
我们的目的是提供一份临床病理概述，评估Ki-67和p53在儿童及青少年垂体神经内分泌肿瘤（PitNETs）中的预后价值，并探讨儿童及青少年催乳素细胞型PitNET中SF3B1体细胞变异的发生率。我们对30例年龄在8至20岁的患者（16例女性，占53%；14例男性，占47%）进行了临床、形态学、免疫组织化学和分子研究。21例患者（70%）有临床数据。9例患者（43%）有占位效应症状。25例（83%）有影像学资料。21例患者（84%）有大腺瘤型PitNET或巨大型PitNET。大多数肿瘤为催乳素细胞型PitNET（22例，占73%）。22例催乳素细胞型PitNET中有9例（41%）为男性。对27例进行了Ki-67和p53免疫染色。15例肿瘤（56%）p53呈阳性且Ki-67指数高。其中，12例肿瘤（80%）为大腺瘤型PitNET或巨大型PitNET。8例肿瘤（30%）p53呈阴性且Ki-67指数低，其中5例被归类为大腺瘤型PitNET（在可获得该数据的病例中占100%）。对所有15例检测肿瘤进行的复发性c.1874G>A p.Arg625His基因分析均为阴性。总之，儿童及青少年PitNET通常是大的病变，几乎半数病例有占位效应。在我们的队列中，催乳素细胞型PitNET是最常见的PitNET，且无性别倾向。在一部分成人催乳素细胞型PitNET中记录到的突变，在我们的队列中未观察到，这可能暗示存在不同的分子背景。我们的结果未揭示儿童及青少年PitNET中Ki-67和p53状态与肿瘤大小或侵袭性之间存在任何关联。
