IllnessPolyps, hamartomatous [gastrointestinal], differential diagnosis

NGS +

[Sanger]

Hamartomatous polyps of the digestive tract are rare entities. They may be solitary (solitary Peutz-Jeghers polyp or solitary juvenile polyp) or multiple, the latter often associated with a genetic predisposition, such as Peutz-Jeghers syndrome, juvenile polyposis, Cowden and other PTEN hamartoma tumor syndromes (or of unknown origin such as Cronkhite-Canada syndrome). Hamartomatous polyps have also been described in patients with neurofibromatosis 1, multiple endocrine neoplasia 2B, Gorlin or Birt-Hogg-Dubé syndrome. The diagnosis is based on clinical and dermatological findings as well as endoscopy or histology. Main problems with hamartomatous polyps are intestinal complications (hemorrhage, obstruction, infarction, intussusception) and the risk of malignant degeneration, especially in the genetic forms, which are usually inherited in an autosomal dominant manner. The DNA diagnostic yields vary considerably between 30-80%. A negative molecular genetic result does not constitute exclusion of the clinical diagnosis.

References: https://pubmed.ncbi.nlm.nih.gov/31107726/

https://pubmed.ncbi.nlm.nih.gov/25645574/

• Allelic: Basal cell carcinoma, somatic (PTCH1, PITCH2)
• Allelic: Basal cell nevus syndrome [Gorlin syndrome] (PTCH1, PTCH2, SUFU)
• Allelic: Breast cancer, somatic (AKT1)
• Allelic: Central hypoventilation syndrome, congenital (RET)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Hirschsprung disease, protection against (RET)
• Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
• Allelic: Holoprosencephaly 7 (PTCH1)
• Allelic: Joubert syndrome 32 (SUFU)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Lhermitte-Duclos syndrome (PTEN)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Medullary thyroid carcinoma (RET)
• Allelic: Medulloblastoma, desmoplastic (SUFU)
• Allelic: Medulloblastoma, somatic (PTCH2)
• Allelic: Melanoma, malignant, somatic (STK11)
• Allelic: Meningioma (PTEN)
• Allelic: Meningioma, familial, susceptibility to (SUFU)
• Allelic: Multiple endocrine neoplasia IIA + IIB (RET)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Neurofibromatosis-Noonan syndrome (NF1)
• Allelic: Ovarian cancer, somatic (AKT1)
• Allelic: Pancreatic cancer, somatic (SMAD4, STK11)
• Allelic: Pheochromocytoma (RET)
• Allelic: Pneumothorax, primary spontaneous (FLCN)
• Allelic: Prostate cancer, somatic (PTEN)
• Allelic: Proteus syndrome, somatic (AKT1)
• Allelic: Renal carcinoma, chromophobe, somatic (FLCN)
• Allelic: Testicular tumor, somatic (STK11)
• Allelic: Watson syndrome (NF1)
• Birt-Hogg-Dubé syndrome (FLCN)
• Colorectal cancer, somatic (AKT1, FLCN)
• Cowden syndrome 1 [Bannayan-Riley-Ruvalcaba syndrome] (PTEN)
• Cowden syndrome 6 (AKT1)
• Hereditary mixed polyposis syndrome (BMPR1A)
• Juvenile polyposis syndrome, infantile form (BMPR1A)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Multiple endocrine neoplasia of type 2B (RET)
• Neurofibromatosis, type 1 (NF1)
• PTEN-hamartoma tumour syndrome (PTEN)
• PTEN-related Proteus syndrome + Proteus-like-syndrome (PTEN)
• Peutz-Jeghers syndrome [Hamartomatous intestinal polyposis] (STK11)
• Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
• Polyposis, juvenile intestinal (BMPR1A, SMAD4)
• Telangiectasia, hereditary hemorrhagic, type 1 (ENG)