defending diagnoses

Defending Diagnoses• Carcinoid Tumor (11): Jack Mbabuike• Colon Adenocarcinoma (3): Joshua Gordon• Basal Cell Carcinoma (1): Owen Dubowy• Hepatocellular Carcinoma (1): Amer Assal

• Other Diagnoses: Pheochromocytoma VIPoma Gastric Cancer Gastrinoma

Liver Biopsy

Liver BiopsyChromogranin

Colon Biopsy

Colon Biopsy

Chromogranin

Colon Biopsy

Synatophysin

Final Diagnosis

Carcinoid syndrome secondary to poorly differentiated

neuroendocrine carcinoma of the colon with liver metastasis

Neuroendocrine Cancer

• Neuroendocrine cells are widely distributed throughout the body

• GI tract and pancreas have the largest component of neuroendocrine cells than any other organ system

• Nomenclature of GI neuroendocrine tumors is confusing – WHO standardized in 2005

Classification of NE Cancers of the Colon

Classification of Neuroendocrine Cancers of the

ColonI. Well-Differentiated Tumors – Carcinoid

II. Well-Differentiated Endocrine Carcinoma – Malignant Carcinoid

III. Poorly Differentiated Endocrine Carcinoma – our patient

IV. Mixed Exocrine-Endocrine Carcinoma

Definition of Carcinoid Syndrome

• Constellation of symptoms produced by the actions of neuroendocrine tumor secretory products

Prevalence of Colon Neuroendocrine Tumors

• Likely underestimated due to need for special additional staining

• Large retrospective series of resected colorectal tumors found:

- 4% of tumors had partial neuroendocrine differentiation

- 1% complete neuroendocrine differentiation

Pathophysiology of Colon Neuroendocrine Tumors

• Poorly understood, risk factors are not known

• Some suggestion of hereditary component

• Some overlap with the genetic model of tumorigenesis of colonic adenocarcinoma

Pathogenesis of Mr. L’s Disease

Environmental Factors

Sequential Genetic Mutations

Colonic Neuroendocrine Cell Malignant Transformation

Tissue Invasion with Metastasis

Systemic Release of Neurohormonal

Products

Appetite, Weight Loss, and Fatigue

Hypovolemia

Hypokalemia and Alkalosis Diarrhea

Near Syncope Bronchospasm and

Cough Palpitations and Flushing

Clinical Presentation of Colon Neuroendocrine Cancer

• abdominal pain• change in bowel habits• melena/hematochezia• anemia, weakness, weight loss• symptoms of carcinoid syndrome rare

Diagnosis of Neuroendocrine Colon Cancer

• Colonoscopy with biopsy

• Immunohistochemical stains for chromogranin and synaptophysin

Treatment of Neuroendocrine Colon Carcinoma

• Surgery if local disease – curative

• Prognosis is poor for metastatic disease

• Chemo is similar to small cell lung cancer

- Cisplatin and Etoposide

- Irenotecan

• Treatment of symptoms - Sandostatin

Follow-up

• Patient had progression of disease after 4 cycles of cisplatin and etoposide, bone mets developed

• Irenotectan initiated with continued progression• Sandostatin initiated for worsening diarrhea and

flushing• Patient transferred to Bronx VA for palliative

radiation therapy• He passed away last week