Pancreatic panniculitis as a paraneoplastic phenomenon of a pancreatic acinar cell carcinoma

Abstract

We present the case of a 59-year-old patient admitted with extreme painful erythematous subcutaneous nodules of the lower extremities in association with arthritis and peripheral eosinophilia. Upon skin biopsy, the diagnosis of pancreatic panniculitis was made. On further investigation, an underlying acinar cell type pancreas carcinoma was revealed. This clinical case does illustrate how a seemingly innocuous skin condition may herald an underlying malignant disease. The presence of pancreatic panniculitis should trigger clinicians to undertake further thorough diagnostic investigation of the pancreas.

Pancreatic acinar cell carcinoma is associated with BRCA2 germline mutations: a case report and literature review

“…Including the current case, a total of 10 ACC patients with germline BRCA2 mutations have now been reported (Table 2). 7,[17][18][19][20][21] Loss of the wild-type BRCA2 allele, observed in all cases with known zygosity, 7,17 supports the causal relation between BRCA2 germline mutation and the onset of ACC. Moreover, literature review showed that somatic BRCA2 alterations occur in about 12% of ACCs.…”

“…Literature review of ACC in patients with a germline BRCA2 mutation identified nine additional cases (Table 2). 7,[17][18][19][20][21] The mean age at diagnosis was 62 years (SD: 8.7; range: 50-78), which is similar to sporadic cases. 4 Including the current patient, seven males (67%) and three females (33%) were identified, resulting in male-to-female ratio of 2.3:1, corresponding to the male predominance in sporadic ACC.…”

“…Of note, the actual prevalence of both germline and somatic BRCA1/2 mutations in pancreatic ACC can be under-or overestimated mainly due to the rarity of this tumor type, lack of large-scale genomic analyses and possible underrepresentation in literature. Patients with ACC and germline BRCA1/2 alterations were often described in case reports 7,[17][18][19][20]22,23 hindering the possibility to estimate real portion of ACCs emerged due to BRCA1/2 germline mutations. The heterogeneity observed between sequencing studies is also remarkable: only one out of four studies detected somatic BRCA1 mutations, and one WES study did not identify any BRCA1/2 mutation in 22 ACCs.…”

“…17,18,20 In addition, three patients, including the current, had a family history of BRCA2associated malignancies and/or family member(s) harboring germline BRCA2 mutations. 18,19 Two patients presented with PP as the initial manifestation of ACC. 19,20 In addition, literature search identified two ACC patients with BRCA1 germline mutation.…”

“…18,19 Two patients presented with PP as the initial manifestation of ACC. 19,20 In addition, literature search identified two ACC patients with BRCA1 germline mutation. [22][23][24] Among 46 ACCs tested by germline sequencing (Furukawa et al 7 (n = 7), Jakel et al 3 (n = 22), Lowery et al 24 (n = 17)), one patient (2.2%) with BRCA1 24 and two patients (4.3%) with BRCA2 7 mutations were detected.…”