Abstract:
RATIONALE:Intraductal papillary and mucinous neoplasms of the pancreas (IPMN) are preneoplastic lesions diagnosed with an increasing incidence. Recently, several groups have described, in up to 70% of IPMN, activating mutations of the G-protein alpha stimulatory sub-unit (Gsα subunit) gene (GNAS). GNAS-activating somatic, post-zygotic, mutations are also associated with McCune-Albright syndrome (MCAS) characterized by fibrous dysplasia, precocious puberty, and café-au-lait spots. PATIENT CONCERNS:We herein report a patient with McCune Albright Syndrome that presented with malignant IPMN and underwent pancreatic resection. DIAGNOSES AND INTERVENTIONS:Leucocyte and duodenum juice DNA analysis, endoscopically collected from secretin-stimulated pancreatic juice revealed the same (GNAS) activating mutation also found in the invasive pancreatic colloid adenocarcinoma arising from intestinal subtype IPMN. OUTCOMES:Thirty months after surgery, the patient was alive with recurrence (bone only metastasis). LESSONS:In this observation, we show that MCAS should be view as a new genetic predisposition to IPMN associated pancreatic cancer, and consequently a targeted screening in this high-risk population might be proposed.
journal_name
Medicine (Baltimore)journal_title
Medicineauthors
Gaujoux S,Pasmant E,Silve C,Mehsen-Cetre N,Coriat R,Rouquette A,Douset B,Prat F,Leroy Kdoi
10.1097/MD.0000000000018102subject
Has Abstractpub_date
2019-12-01 00:00:00pages
e18102issue
50eissn
0025-7974issn
1536-5964pii
00005792-201912130-00010journal_volume
98pub_type
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