A case report of an unusual non-mucinous papillary variant of CPAM type 1 with KRAS mutations
A case report of an unusual non-mucinous papillary variant of CPAM type 1 with KRAS mutations
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DOI：
10.1186/s12890-020-1088-z
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发表时间：
2020-02-24
影响因子：
3.1
通讯作者：
Timens, Wim
中科院分区：
文献类型：
--
作者：
Koopman, Timco;Rottier, Bart L.;Timens, Wim
背景先天性肺气道畸形（CPAM）是最常见的先天性肺疾病。CPAM 1型是最常见的亚型，典型的放射学和组织学表现为囊性。CPAM 1型的粘液团簇已被确定为粘液腺癌的癌前前兆。这些黏液性腺癌和CPAM中的黏液团簇通常含有特定的KRAS突变。我们报告一例6周大的CPAM 1型女孩，在肺叶切除术后的评估显示，所有囊性部分都有非常不寻常的复杂的非粘液乳头状结构，其中粘液团和非粘液乳头状区域都含有已知的KRAS突变。结论：我们发现一种KRAS突变被认为仅在黏液簇中发生癌前病变，但在这种罕见的CPAM 1型非黏液乳头状变异体的其他囊肿内膜上皮细胞中也存在这种突变，由于不确定其恶性潜能，因此需要进行临床随访。
Background congenital pulmonary airway malformation (CPAM) is the most frequent congenital lung disorder. CPAM type 1 is the most common subtype, typically having a cystic radiological and histological appearance. Mucinous clusters in CPAM type 1 have been identified as premalignant precursors for mucinous adenocarcinoma. These mucinous adenocarcinomas and the mucinous clusters in CPAM commonly harbor a specific KRAS mutation. Case presentation we present a case of a 6-weeks-old girl with CPAM type 1 where evaluation after lobectomy revealed a highly unusual complex non-mucinous papillary architecture in all cystic parts, in which both mucinous clusters and non-mucinous papillary areas harbored the known KRAS mutation. Conclusions we found that a KRAS mutation thought to be premalignant in mucinous clusters only, was also present in the other cyst lining epithelial cells of this unusual non-mucinous papillary variant of CPAM type 1, warranting clinical follow-up because of uncertain malignant potential.