GI polyps Flashcards

1
Q

Polyp types: Hamartomas versus Adenomas

A

Hamartomas: disorganized growth of normal tissue (tissue indigenous to the site).
Adenomas: all have dysplasia, precancerous, crowded, enlarged disorganized nuclei, mucin depletion, increased mitosis. Tubular versus villous

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2
Q

Hamartomas

A

Hamartomas: disorganized growth of normal tissue (tissue indigenous to the site). dilated cysts filled with mucin, abundant lamina propria and prominent inflammatory infiltrate, haphazard arrangement.
- ulcerative surface prone to auto-infarction, highly vascular.
Types of hamartomas:
- Juvenile polyps
-Peutz-Jeghers hamartoma
-Ganglioneuromas.

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3
Q

Hamartoma types

A

-Juvenile polyps: pedunculated, round to multilobulated, 1-3 cm.
- Peutz-Jeghers: sessile or pedunculated with lobulated surface, has arborizing strands of smooth muscle extending to polyp surface
- Ganglioneuromas: composed of ganglion and Schwan cells with fibrous tissue. These are fully differentiated neuronal tumors that do not contain immature elements, associated with NF1 and PHTS

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4
Q

Juvenile polyp

A

-Hamartoma, pedunculated, round to multilobulated, 1-3cm

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5
Q

Peutz-Jeghers polyp

A

-Hamartoma, sessile or pedunculated with lobulated surface.
-arborizing strands of smooth muscle extending to polyp surface

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6
Q

Ganglioneuromas

A

-composed of ganglion and Schwann cells with fibrous tissue
-Fully differentiated neuronal tumors that do not contain immature elements.
-Associated with NF1 and PHTS

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7
Q

Adenomas

A

Adenomas: all have dysplasia, precancerous, crowded, enlarged disorganized nuclei, mucin depletion, increased mitosis.
Tubular versus villous

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8
Q

FAP syndrome

A
  • Most common in kids
    -Gene: APC, Autosomal dominant, 30% de novo
  • Adenomas in colon (also SI and stomach). Adenoma to carcinoma sequence.
  • Hepatoblastoma under 5 years.
    -Extraintestinal: bone abnormalities, supernumerary teeth, congenital hypertrophy of retinal pigment epithelium. Desmoid development s/p surgery. Thyroid and adrenal cancer. CNS glioblastoa (Turcot’s)
  • Surveillance: colonoscopy at age 11 years (or at first symptoms). US/AFP in kids <5 years.
  • Management: colectomy based on polyp burden, advancing dysplasia.
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9
Q

MutYH Associated Polyposis

A
  • Gene: MutYH (gene repair), Autosomal recessive, leads to muted APC gene.
  • Adenomas in Colon, stomach and SI, Adenoma to Carcinoma, other tumors.
    -Extraintestinal manifestations are rare.
    Surveillance: similar to FAP.
    -Management based on polyp location and amenability to polypectomy
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10
Q

Lynch Syndrome

A
  • MCC of hereditary colorectal cancer.
  • Gene: MMR Gene(s). Also ECAM1. Autosomal dominant, variable expression, de novo is rare.
  • Polyp: Adenoma. Accelerated Adenoma to Carcinoma sequence, Endometrial cancer, Synchronous and Metachronous cancers.
  • Extraintestinal: CNS (turcot syndrome), Skin (Murre Torre Syndrome). Cancer risk in multiple other organs.
  • Surveillance: colonoscopy Q1-2 years once adenomas found.
  • Management: colectomy, prophylactic salpingophrenectomy/hysterectomy.
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11
Q

Juvenile Polyposis Syndrome (5 or more juvenile polyps)

A

Gene: SMAD4, BMPR1A. ~50% AD, variable expression,
-multiple phenotypes:
- Infantile: PLE. anemia. early colectomy
- Juvenile polyposis coli:
- Generalized JPS: pan-GI.
- JPS/hereditary hemorrhagic telangiectasia (HHT): SMAD4.
Polyp: Hamartomas in colon (BMPR1A), or throughout GI tract (SMAD4).
Extraintestinal manifestations: clubbing, polydactyly, macrocephaly, heart disease, double renal pelvis and ureter, bifid uterus and vagina, undescended testes, supernumerary teeth, mental retardation, thyroid cancer, gastric cancer, pancreatic cancer.
Surveillance: colonoscopy Q2 years, cerebral and pulm AVM screening.
Management: colectomy when polyp burden is unmanageable.

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12
Q

Peurz-Jeghers Syndrome: PJS

A

Gene: STK11 (LKB1). Autosomal dominant. lots of de novo mutations.
- PJS hamartomas: SI > stomach > colon. Increased lifetime cancer risk: GI tract, pancreas, lungs, testes, breast, uterus, ovary.
Extra-intestinal: peri-oral mucocutanous pigmentation, bleeding, anemia, intussusception, recurrent surgery with intestinal resection. sertoli cell tumors of ovary and testicles.
Surveillance: labs for anemia, SI surveillance by video capsule or MRE. Testicle US.
Management: intraoperative enteroscopy with all laparotomies for removal of SI polyps.

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13
Q

PTEN Hamartoma syndrome

A

Unique findings: multiple polyps of multiple histologies.

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14
Q
A
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