Universidad Autónoma de Guadalajara School of Medicine, Guadalajara, Mexico.
Department of Pathology, Microbiology and Immunology.
Am J Clin Pathol. 2021 Jul 6;156(2):313-319. doi: 10.1093/ajcp/aqaa245.
Mucinous adenocarcinoma arising in unresected congenital pulmonary airway malformation (CPAM) is rare. Underlying driver mutations in addition to KRAS gain-of-function mutations in this setting and the long-term outcomes of these patients are unknown.
We report a case of metastatic mucinous adenocarcinoma harboring both KRAS and GNAS mutations arising in a type 1 CPAM of a 14-year-old male. A literature review was performed.
Next-generation sequencing revealed identical KRAS (G12V) mutations in both the CPAM and metastatic adenocarcinoma and a missense mutation in the GNAS (R201C) gene in the metastatic adenocarcinoma only. Median survival was 23 and 4 years for patients with localized (no or limited spread within the same lobe of CPAM) and distant involvement (spread to any different lobe of CPAM) of mucinous cells, respectively (95% confidence interval, 23-23 and 1.5-22 years, respectively; P = .017).
Mucinous cell proliferation associated with type 1 CPAM has exceptionally good long-term outcomes if confined within the same lobe of CPAM. A second oncogenic mutation in the GNAS gene may be necessary for progression to malignancy and distant spread.
未切除的先天性肺气道畸形（CPAM）中发生的黏液性腺癌很少见。在这种情况下，除了 KRAS 功能获得性突变之外，还有潜在的驱动突变，以及这些患者的长期预后尚不清楚。
我们报告了一例 14 岁男性的 1 型 CPAM 中发生的具有 KRAS 和 GNAS 突变的转移性黏液性腺癌。进行了文献复习。
下一代测序显示 CPAM 和转移性腺癌中均存在相同的 KRAS（G12V）突变，而仅在转移性腺癌中存在 GNAS（R201C）基因突变。黏液细胞局限性（CPAM 同一叶内无或有限扩散）和远处受累（扩散至 CPAM 的任何不同叶）患者的中位生存期分别为 23 年和 4 年（95%置信区间，23-23 和 1.5-22 年；P =.017）。
如果局限于 CPAM 的同一叶内，与 1 型 CPAM 相关的黏液细胞增殖具有极好的长期预后。GNAS 基因中的第二个致癌突变可能是恶性进展和远处扩散所必需的。
