Abstract
The familial atypical multiple mole melanoma (FAMMM) syndrome is caused by a germline mutation of p16. More than 90% of the sporadic pancreatic carcinomas contain genetic alterations that inactivate p16. Patients with the FAMMM syndrome have an increased risk of developing pancreatic cancer. Ductal adenocarcinoma is the most common cancer of the pancreas and the one encountered in patients with FAMMM syndrome. Undifferentiated carcinoma with osteoclastic giant cells, also referred to as UCOCGC of the pancreas, is a rare variant of pancreatic cancer. An UCOCGC of the pancreas associated with FAMMM syndrome is described in this report. Molecular analysis confirmed a germline p16-Leiden deletion in the UCOCGC, accompanied by somatic loss of heterozygosity of the second p16 allele, and absence of p16 protein expression in the neoplastic cells. It is the first case reported and it provides additional evidence that UCOCGC can be considered as a variant of conventional ductal adenocarcinoma of the pancreas.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1905-1909 |
| Number of pages | 5 |
| Journal | American Journal of Surgical Pathology |
| Volume | 32 |
| Issue number | 12 |
| DOIs | |
| State | Published - Dec 2008 |
Fingerprint
Keywords
- Familial atypical multiple mole melanoma syndrome
- KRAS2 codon 12 mutation
- P16-Leiden deletion
- Pancreas
- Undifferentiated carcinoma with osteoclastic giant cells
ASJC Scopus subject areas
- Anatomy
- Pathology and Forensic Medicine
- Surgery
- Medicine(all)
Cite this
Undifferentiated Carcinoma with Osteoclastic Giant Cells (UCOCGC) of the pancreas associated with the Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM). / Koorstra, Jan Bart M; Maitra, Anirban; Morsink, Folkert H M; Drillenburg, Paul; Ten Kate, Fiebo J W; Hruban, Ralph H; Offerhaus, Johan A.
In: American Journal of Surgical Pathology, Vol. 32, No. 12, 12.2008, p. 1905-1909.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Undifferentiated Carcinoma with Osteoclastic Giant Cells (UCOCGC) of the pancreas associated with the Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM)
AU - Koorstra, Jan Bart M
AU - Maitra, Anirban
AU - Morsink, Folkert H M
AU - Drillenburg, Paul
AU - Ten Kate, Fiebo J W
AU - Hruban, Ralph H
AU - Offerhaus, Johan A.
PY - 2008/12
Y1 - 2008/12
N2 - The familial atypical multiple mole melanoma (FAMMM) syndrome is caused by a germline mutation of p16. More than 90% of the sporadic pancreatic carcinomas contain genetic alterations that inactivate p16. Patients with the FAMMM syndrome have an increased risk of developing pancreatic cancer. Ductal adenocarcinoma is the most common cancer of the pancreas and the one encountered in patients with FAMMM syndrome. Undifferentiated carcinoma with osteoclastic giant cells, also referred to as UCOCGC of the pancreas, is a rare variant of pancreatic cancer. An UCOCGC of the pancreas associated with FAMMM syndrome is described in this report. Molecular analysis confirmed a germline p16-Leiden deletion in the UCOCGC, accompanied by somatic loss of heterozygosity of the second p16 allele, and absence of p16 protein expression in the neoplastic cells. It is the first case reported and it provides additional evidence that UCOCGC can be considered as a variant of conventional ductal adenocarcinoma of the pancreas.
AB - The familial atypical multiple mole melanoma (FAMMM) syndrome is caused by a germline mutation of p16. More than 90% of the sporadic pancreatic carcinomas contain genetic alterations that inactivate p16. Patients with the FAMMM syndrome have an increased risk of developing pancreatic cancer. Ductal adenocarcinoma is the most common cancer of the pancreas and the one encountered in patients with FAMMM syndrome. Undifferentiated carcinoma with osteoclastic giant cells, also referred to as UCOCGC of the pancreas, is a rare variant of pancreatic cancer. An UCOCGC of the pancreas associated with FAMMM syndrome is described in this report. Molecular analysis confirmed a germline p16-Leiden deletion in the UCOCGC, accompanied by somatic loss of heterozygosity of the second p16 allele, and absence of p16 protein expression in the neoplastic cells. It is the first case reported and it provides additional evidence that UCOCGC can be considered as a variant of conventional ductal adenocarcinoma of the pancreas.
KW - Familial atypical multiple mole melanoma syndrome
KW - KRAS2 codon 12 mutation
KW - P16-Leiden deletion
KW - Pancreas
KW - Undifferentiated carcinoma with osteoclastic giant cells
UR - http://www.scopus.com/inward/record.url?scp=58749103181&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=58749103181&partnerID=8YFLogxK
U2 - 10.1097/PAS.0b013e31818371cd
DO - 10.1097/PAS.0b013e31818371cd
M3 - Article
C2 - 18813118
AN - SCOPUS:58749103181
VL - 32
SP - 1905
EP - 1909
JO - American Journal of Surgical Pathology
JF - American Journal of Surgical Pathology
SN - 0147-5185
IS - 12
ER -