INTERESTING CASES IN GI

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INTERESTING CASES IN GI

• LAURA E. MICHAEL, DO
• ORLANDO, FLORIDA

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Case No. 1

• 74 year old female with previous history of
  perforated jejunal diverticulum presents with
  abdominal pain and perforation

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Gross exam

• Loop of small bowel 132 cm in length with cystic
  dilation of the submucosa /serosa with possibly
  trapped air

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Histology cystic spaces in submucosa

• due to trapped air
• usually elicts a foreign body giant cell
  reaction

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Diagnosis pneumatosis cystoides intestinalis

• More common in the colon
• Associated with pulmonary disease, duodenal ulcer
  or necrotizing enteritis-especially in neonate
  patient

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Case No. 2

• 56 year old male with weight loss greater than 50
  lbs, and rheumatoid arthritis. Slightly raised
  yellowish-white nodule in the duodenum biopsied.

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Histology

• Villi expanded by foamy histocytes
• Vacuole/ spaces also characteristic
• PAS-positive diastase-resistance material due to
  bacilli-form organisms
• Tropheryma whippelli

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Diagnosis

• Whipples disease (intestinal lipodystrophy)
• Important differential diagnosis AIDS
  enteropathy by Mycobacterium avium-intracellulare
  ( do an AFB stain also)

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Case No. 3

• 55 year old female with lung mass. History of
  colon and breast cancer
• Sectioning the lung shows a peribronchial mass
• Histology glandular formation with dirty
  necrosis and mucin

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Immunohistochemical stains

• CK 7 negative
• Ck 20 positive
• 90 of colon tumors staining pattern plus the
  histology with dirty necrosis

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CYTOKERATIN 7
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CYTOKERATIN 20
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Diagnosis

• Metastatic Colon adenocarcinoma to the lung

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Case No. 4

• 34 year old female with Crohns disease and
  stricture formation near the ileiocecal valve
• Gross examination fibrosis, no gross mass
  identified
• Histology Relatively bland glands invading
  through the bowel wall

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Diagnosis Adenocarcinoma arising in Crohns
Disease

• Less frequent than ulcerative colitis
• Arise in segments of active disease
• Carcinoma may be deceptively low grade

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Case No. 5

• 69 year old with lipoma as a clinical diagnosis
  in the rectum
• Histology Submucosal well- demarcated tumor
  cells in nests, cords and trabeculae. The nuclei
  are uniform, with inconspicous nucleoli.
• Synaptophysin immunoperoxidase stain is positive
• Clinically the submucosal nodule will appear
  yellow on endoscopy

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Diagnosis Carcinoid tumor/low grade
neuroendocrine tumor

• Uncommon in the colon, but relatively frequent in
  the rectum
• In male patient the differential diagnosis is
  metastatic prostate carcinoma, Immunostain for
  PSA is negative for GI carcinoids

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Case No. 6

• 77 year old with gastric outlet obstruction
• Histology tumor in nests, cords with bland
  nuclei involving the mucosa, submucosa and
  infiltrating the bowel wall
• Large tumors can kink the mesentery and cause
  obstructive symptoms
• Greater than 2 cm tumors potentially metastasize
• Liver mets cause carcinoid syndrome

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SMALL BOWEL CARCINOID
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Case No. 7

• 4 year old with polyp
• Clinically found in children and young adults
• Can cause GI bleeding and iron deficency anemia
• Histology polypoid mass with expanded lamina
  propria, cystic glandular dilatation and erosion
  of the surface.

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Diagnosis Juvenile polyp

• Differential diagnosis
• Inflammatory polyp
• hyperplastic polyp,
• Peutz-Jeghers polyp
• adenoma

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Case No. 8

• 28 year old Cruise ship worker with appendicitis
• Histology shows parasitic eggs in the lumen of
  the appendix

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Diagnosis Schistosomiasis, probably Schistosoma
mansoni

• Adults live in the mesenteric venous plexes of
  the large intestine and release eggs into the
  stool
• S. mansoni occurs in Africa, especially the Nile
  delta, South Africa, Madagascar and in the
  Western hemisphere Brazil, Venezula, West Indies
  and Puerto Rico.

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Case No. 9

• 83 year old with recurrent gastric tumor
• Gross 8 centimeter in diameter mass in the wall
  of the stomach. Previous tumor one year ago, 6
  cm in diameter and appeared totally excised.
• Both tumors had identical histologically
  epitheloid tumor cells, many mitoses, focal
  necrosis in a myxoid stroma.
• Immunostains for C-Kit (CD117), CD 34 and
  Vimentin are positive, muscle specific Actin,
  desmin and S-100 are negative.

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Diagnosis Gastrointestinal Stromal Tumor (GIST)
high grade

• Rare but are the most common mesenchymal tumor to
  arise in the GI tract-60 stomach, 15 small
  bowel
• Previously the tumors were classified as
  leiomyoma, leiomyosarcoma or schwannoma , or
  malig. Schwannoma, depending on the histology and
  staining pattern.
• Origin of the tumor is unknown, but may be linked
  to the interstitial cells of Cajal ( gastric
  pacemaker cells) since both express CD 117 (C-Kit)

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Characteristics of GIST

• CD 34 positive
• C-KIT (CD117) positive-express the receptor
  KIT-pathognomonic for the disease
• KIT receptor is a tyrosine kinase receptor-acts
  by phosphorylating down-stream DNA targets, leads
  to activation of PI3-kinase and MAP kinase
  signaling pathways. ( persistent growth signals
  and tumor genesis)

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Pathology of GIST

• Grading (low versus intermediate to high grade)
  based on
• Size of tumor
• cellularity
• Number of mitoses
• Necrosis
• Invasion into mucosa
• Metastasis-common to liver

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Treatment

• Surgery if localized
• Imatinib (Gleevec) for C-Kit positive tumors
  that are advanced or non-resectable.

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Case No. 10

• 64 year old male with history of reflux
  esophagitis and Barretts esophagus with focal
  high grade dysplasia three year prior to the
  biopsy.

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Low grade dysplasia
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High grade dysplasia
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High grade dysplasia/ intramucosal carcinoma
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Adenocarcinoma arising in Barretts esophagus
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Barretts esophagus

• Usually cardia type gastric mucosa
• With goblet cell type intestinal metaplasia
• May also see paneth-cell metaplasia

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Alcian Blue stain for goblet metaplasia
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Progression of Barretts esophagus
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Barretts Esophagus

• 10-15 of people with long term reflux
• 30-150x increase risk of carcinoma than the
  general population
• Most common in white males
• 30 of esophageal carcinoma treated with pre-op
  chemotherapy and/ or radiation have no residual
  tumor at surgery

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Case Number 11

• 62 year old with sigmoid polyp removed
  endoscopically.

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Histology of polyp
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Cluster of ganglion cells
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HIGH POWER VIEW
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Diagnosis Ganglioneuroma

• Composed of bundles of schwann cells and ganglion
  cells
• Can be sporadic or syndromic
• More common in large intestine than neurofibromas
  or schwannomas
• Solitary- benign
• Multiple- Men type 2b, Von Recklinghausens
  disease and neurogenic sarcoma

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Case 12 38 year old female with rectal bleeding

• 1.5 x 1.5 x 1.0 cm rectal polypectomy .
• Histology invasive moderately differentiated
  adenocarcinoma extending to the cautery margin.
• Resection showed no residual tumor. Nodes were
  negative.

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HISTOLOGY- TYPICAL COLON CARCINOMA
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Invasive adenocarcinoma in a patient less than 50
years of age

• RECOMMENDATION FOR TESTING FOR HEREDITARY
  NON-POLYPOSIS COLORECTAL CANCER SYNDROME
• ( HNPCC).
• Account for 5 of all new colorectal cancers
• Have a greater 70 lifetime risk of malignancy

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Revised Bethesda Guidelines- criteria for
microsatellite instability testing

• Colorectal or uterine cancer- before 50 yo
• Presence of synchronous, metasynchronous
  colorectal or other HNPCC associated cancers (
  endometrial, ovarian, gastric, hepatobiliary,
  upper uroepithelial tract and brain malignancy.
• Colon ca diagnosed in one or more first degree
  relatives with HNPCC tumor , less than 50 years
  old.
• Colorectal cancer in two or more first degree
  relatives with related tumors, regardless of age.

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MICROSATELITE STABILITY TESTING

• Genes related to HNPCC
• MSH2
• MLH1
• MSH6
• PMS2
• PCR preferred test

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Case 13 35 year old male with dysphagia- mid
esophageal biopsy
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Diagnosis Eosinophilic esophagitis

• Minimum number of eosinophils for diagnosis
• 15 per high power field in two fields
• 25 in any hpf
• Extension to the surface and microabscess
• Typical patient male 3-4th decade
• Family history of allergic disorders

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• Reflux esophagitis- 5 eosinophils per high power
  field
• Treatment different than reflux esophagitis-
  Steroids or anti-inflammatory drugs instead of
  PPIs.

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Case 14 52 year old male with large rectal mass
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High power of tumor cells
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Immunostains performed

• Cytokeratin 7- Negative
• Cytokeratin 20- Negative
• Pancytokeratin-positive
• P 53- Positive
• Prostate specific antigen- Positive

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Diagnosis Adenocarcinoma of the prostate with
rectal extension

• Occurs in 1.5 to 11 of prostate cancers
• Direct extension of the bladder and invasion of
  the seminal vesicles can also be noted
• Additional studies intravenous urography,
• Bone scans, acid phosphatase and or alkaline
  phosphatase.

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Case 15 92 year old with ulcer in gastric cardia
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Immunostains performed

• Cytokeratin AE 1/ 3- Negative
• LCA ( leukocyte common antigen)- negative
• S-100 and HMB 45 Positive
• Ki-67( MIB-1) High activity

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High power of HMB-45
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Diagnosis Metastatic Melanoma

• Most common tumor that metastasizes to the GI
  tract ( 10 of all mets)
• Small bowel 71
• Stomach 27
• Large bowel- 22
• Esophagus-5

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Last case 47 year old with gastric ulcer
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High power of tumor cells
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Signet ring adenocarcinoma of stomach

• Resection showed tumor extended through the wall
  of the stomach to the adipose tissue
• 19 of 20 lymph nodes positive for tumor
• Need at least 50 of the tumor signet ring cells
  to classify it as such.

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The end
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