PMID- 33960322
OWN - NLM
STAT- Publisher
LR  - 20240222
IS  - 2052-0573 (Print)
IS  - 2052-0573 (Electronic)
IS  - 2052-0573 (Linking)
VI  - 2021
DP  - 2021 Apr 1
TI  - Breast cancer in multiple endocrine neoplasia type 1 (MEN1).
LID - EDM200196 [pii]
LID - 10.1530/EDM-20-0196 [doi]
LID - 20-0196
AB  - SUMMARY: A 38-year-old female was identified as carrying a heterozygous 
      pathogenic MEN1 variant (c.1304delG) through predictive genetic testing, 
      following a diagnosis of familial hyperparathyroidism. Routine screening for 
      parathyroid and pituitary disease was negative. However, cross-sectional imaging 
      by CT revealed a 41 mm pancreatic tail mass. Biopsy via endoscopic ultrasound 
      confirmed the lesion to be a well-differentiated (grade 1) pancreatic 
      neuroendocrine tumour (pNET) with MIB1<1%. Biochemically, hyperinsulinaemic 
      hypoglycaemia was confirmed following an overnight fast, which was subsequently 
      managed by diet alone prior to definitive surgery. Pre-operative work-up with 
      octreotide SPECT CT demonstrated avid tracer uptake in the pancreatic lesion and, 
      unexpectedly, a focal area of uptake in the left breast. Further investigation, 
      and subsequent mastectomy, confirmed ductal carcinoma in situ pT2 (23 mm) grade 
      1, N0 (ER positive; HER2 negative). Following mastectomy, our patient underwent a 
      successful distal pancreatectomy to resect the pNET. Loss of heterozygosity (LOH) 
      at the MEN1 locus was found in both the breast tumour and pNET, thereby in 
      keeping with a 'two-hit' hypothesis of oncogenesis, a suggestive but 
      non-definitive clue for causation. To obtain further support for a causative 
      relationship between MEN1 and breast cancer, we undertook a detailed review of 
      the published literature which overall supports the notion that breast cancer is 
      a MEN1-related malignancy that presents at a younger age and histologically, is 
      typically of ductal subtype. Currently, clinical guidance regarding breast cancer 
      surveillance in MEN1 does not exist and further research is required to establish 
      a clinical and cost-effective surveillance strategy). LEARNING POINTS: We 
      describe a case of pNET and breast cancer diagnosed at a young age of 38 years in 
      a patient who is heterozygous for a pathogenic MEN1 variant. Loss of the 
      wild-type allele was seen in both breast tissue and pNET specimen. Breast cancer 
      may be an under-recognised MEN1-associated malignancy that presents at a younger 
      age than in the general population with a relative risk of 2-3. Further research 
      is required to determine the cost-effectiveness of breast cancer surveillance 
      approach at a younger age in MEN1 patients relative to the general population .
FAU - Cheah, Seong Keat
AU  - Cheah SK
AD  - Endocrinology, Addenbrookes Hospital, Cambridge University Hospitals NHS 
      Foundation Trust, Cambridge, Cambridgeshire, UK.
FAU - Bisambar, Chad Ramese
AU  - Bisambar CR
AD  - Endocrinology, Addenbrookes Hospital, Cambridge University Hospitals NHS 
      Foundation Trust, Cambridge, Cambridgeshire, UK.
FAU - Pitfield, Deborah
AU  - Pitfield D
AD  - Endocrinology, Addenbrookes Hospital, Cambridge University Hospitals NHS 
      Foundation Trust, Cambridge, Cambridgeshire, UK.
FAU - Giger, Olivier
AU  - Giger O
AD  - Pathology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation 
      Trust, Cambridge, Cambridgeshire, UK.
FAU - Hoopen, Rogier Ten
AU  - Hoopen RT
AD  - Pathology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation 
      Trust, Cambridge, Cambridgeshire, UK.
FAU - Martin, Jose-Ezequiel
AU  - Martin JE
AD  - Medical Genetics, Addenbrookes Hospital, Cambridge University Hospitals NHS 
      Foundation Trust, Cambridge, Cambridgeshire, UK.
FAU - Clark, Graeme R
AU  - Clark GR
AD  - Medical Genetics, Addenbrookes Hospital, Cambridge University Hospitals NHS 
      Foundation Trust, Cambridge, Cambridgeshire, UK.
FAU - Park, Soo-Mi
AU  - Park SM
AD  - Medical Genetics, Addenbrookes Hospital, Cambridge University Hospitals NHS 
      Foundation Trust, Cambridge, Cambridgeshire, UK.
FAU - Parkinson, Craig
AU  - Parkinson C
AD  - Endocrinology, East Suffolk and North Essex NHS Foundation Trust, Colchester, 
      Essex, UK.
FAU - Challis, Benjamin G
AU  - Challis BG
AD  - Endocrinology, Addenbrookes Hospital, Cambridge University Hospitals NHS 
      Foundation Trust, Cambridge, Cambridgeshire, UK.
FAU - Casey, Ruth T
AU  - Casey RT
AD  - Endocrinology, Addenbrookes Hospital, Cambridge University Hospitals NHS 
      Foundation Trust, Cambridge, Cambridgeshire, UK.
AD  - Medical Genetics, Addenbrookes Hospital, Cambridge University Hospitals NHS 
      Foundation Trust, Cambridge, Cambridgeshire, UK.
LA  - eng
PT  - Journal Article
DEP - 20210401
PL  - England
TA  - Endocrinol Diabetes Metab Case Rep
JT  - Endocrinology, diabetes & metabolism case reports
JID - 101618943
PMC - PMC8115436
EDAT- 2021/05/08 06:00
MHDA- 2021/05/08 06:00
PMCR- 2021/05/05
CRDT- 2021/05/07 09:02
PHST- 2021/03/22 00:00 [received]
PHST- 2021/04/13 00:00 [accepted]
PHST- 2021/05/08 06:00 [pubmed]
PHST- 2021/05/08 06:00 [medline]
PHST- 2021/05/07 09:02 [entrez]
PHST- 2021/05/05 00:00 [pmc-release]
AID - EDM200196 [pii]
AID - 10.1530/EDM-20-0196 [doi]
PST - aheadofprint
SO  - Endocrinol Diabetes Metab Case Rep. 2021 Apr 1;2021:20-0196. doi: 
      10.1530/EDM-20-0196.