a rare cancer subtype of the gastroesophageal junction in...
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ESMO Preceptorship Programme
A rare cancer subtype of the
gastroesophageal junction in a BRCA1 patient
Carolina Martínez Ciarpaglini.Pathologist.
INCLIVA Biomedical Research Institute
Gastric cancer – Valencia (Spain) – 6-7 October 2017.
ESMO PRECEPTORSHIP PROGRAM
Medical history and presentation
Familiar BRCA1 syndrome:mutation c.5154G>A.Diabetes mellitusNo smoker 52yo
Mother: endometrial cancer78yo
Sister: breast cancer52yo
Gastroscopy
Progressive dysphagia and weighloss (7kg) since 3 months.
ESMO PRECEPTORSHIP PROGRAM
Gastroscopy: Ulcerated mass of 45 x 42mm occupying the 2/3 distal
esophagus, the gastroesophageal junction and the subcardial region.
ESMO PRECEPTORSHIP PROGRAM
Diagnosis: Adenocarcinoma of the gastroesophageal junction.Her2-negative (Herceptest 0).
ESMO PRECEPTORSHIP PROGRAM
Familiar BRCA1 syndrome:mutation c.5154G>A.Diabetes mellitusNo smoker 52yo
Mother: endometrial cancer78yo
Sister: breast cancer52yo
Gastroscopy
Blood count, liver and renal function tests: normal
CT scan: no others lesions.
Progressive dysphagia and weighloss (7kg) since 3 months.
Severe vertigo with complete disability.
Cranial CT scan: cerebellum metastasis.
Craniotomy and excisionFOLFOX
Medical history and presentation
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synaptofisin
cytokeratin
?
ESMO PRECEPTORSHIP PROGRAM
synaptofisin
synaptofisin
Diagnosis: Adenoneuroendocrine carcinoma of the gastroesophageal junction with cerebellum metastasis.
ESMO PRECEPTORSHIP PROGRAM
Treatment and evolution
52yoFOLFOX 6 cycles
Supraclavicular lymphadenopathy
CT scan: growing of gastroesophageal mass from 45 x 42mm to 66 x 60mm. Supraclavicular metastasis. RECIST: progression of the disease (tumor growing of 65%).
Olaparib 400mg twice a day and radiotherapy in the supraclavicular
lymphadenopathy.
6m
CT scan: reduction of the gastroesophageal mass from 66 to 40mm. Reduction of the supraclavicular metastasis. RECIST: partial response(tumor reduction of 40%)
Today
ESMO PRECEPTORSHIP PROGRAM
Conclusions
• Personalized medicine can offer new treatment opportunities.
• Clinicopathologic correlation is essential.
ESMO PRECEPTORSHIP PROGRAM
BRCA 1/2 mutations carriers
BRCA 1 and BRCA2 associated cancers:• Ovarian Carcinoma• Breast carcinoma
BRCA2• Melanoma• Prostate carcinoma• Pancreatic carcinoma
The association between BRCA1 and BRCA2 mutations and elevated risk of gastric cancer, colorectal cancer and uterine cancers remains weak.
• Annals of Oncology 27 (Supplement 5): v103–v110, 2016 • Cancer 2015; 121: 2474–2475.