McCune Albright syndrome is a genetic predisposition to intraductal papillary and mucinous neoplasms of the pancreas associated pancreatic cancer in relation with GNAS somatic mutation - a case report.

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.

SUBMITTER: Gaujoux S 

PROVIDER: S-EPMC6922479 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature