ACTH-secreting pituitary carcinoma with TP53, NF1, ATRX and PTEN mutations Case report and review of the literature

Excerpt

Pituitary carcinoma (PC) is a very rare tumor entity of the sella turcica, representing 0.1–0.5% of all PitNETs tumors [1‐5]. Based on the WHO Classification, it is defined as pituitary tumor with confirmed craniospinal and/or systemic metastases [6]. Most of them present CNS only (45,2%) or extra CNS (38,7%) metastases. Synchronous extra- and CNS metastases are less common (16,1%) [7]. It is not known whether the tumors develop predominantly from PitNETs after a longer clinical course or de novo [8]. PCs can be hormonally inactive or active (ACTH-, PRL-, GH-, TSH- FSH-, LH-secreting), but far most of them are ACTH- or PRL-secreting tumors [8, 9]. There is little known about the genetic background of this tumor entity, because most of the information comes from case reports and singular larger case series. ATRX [10, 11], CDKN2A [11], CDKN2B [11], SDHB [12], TP53 [11, 13] mutations have been identified in primary [13] and ATRX [10, 11], CDKN2A [11], CDKN2B [11], H-Ras [14] mutations in metastatic tumors. MSH2 germline mutation was described in one case report [15]. PTEN mutations were reported without localization [16]. The tumors have a poor prognosis with a 66% mortality rate after 1 year and up to 80% after 8 years [1, 17]. …