Familial Adenomatous Polyposis (FAP) is a multi-tumoral syndrome that includes neoplasms in the duodenum, brain, pancreas and thyroid. The Cribriform Morular Variant (CMV) is a rare form of Papillary Thyroid Cancer seen in patients with FAP. Presented here is a 32 year old female who initially presented with an anterior neck mass followed years later by a rectal mass. She was diagnosed with FAP and colorectal adenocarcinoma and underwent total proctocolectomy with end ileostomy. She subsequently underwent a total thyroidectomy which revealed CMV Papillary Thyroid Carcinoma (CMV-PTC). Since FAP can have diverse presentations, a high index of suspicion is needed in order to make an earlier diagnosis to reduce potential morbidity and mortality. Papillary thyroid carcinoma can predate colonic polyposis. Identifying CMV-PTC early on can serve as an opportunity diagnose FAP early.

Humans ; Intestinal Polyps ; Colonic Polyps/surgery* ; Intestinal Polyposis ; Colorectal Neoplasms

Child ; Humans ; Adenomatous Polyposis Coli/therapy*

Hereditary colorectal cancer accounts for approximately 5% of all colorectal cancer cases, mainly including familial adenomatous polyposis and Lynch syndrome. Total proctocolectomy plus ileal pouch-anal anastomosis and total colectomy plus ileorectal anastomosis are two major procedures for familial adenomatous polyposis, however, the exact impact of these two procedures on surgical efficacy, oncologic efficacy as well as functional results still remains uncertain. Segmental colectomy and total colectomy are two major procedures for Lynch syndrome, each of them both has advantages and disadvantages, and there still lacks a consensus about the optimal strategy because of the nature of retrospective study with a relatively insufficient evidence support. As a result, we would make a review about the current surgical treatment status and future perspectives of hereditary colorectal cancer.
Adenomatous Polyposis Coli/surgery* ; Anastomosis, Surgical/methods* ; Colectomy ; Colorectal Neoplasms, Hereditary Nonpolyposis/surgery* ; Humans ; Proctocolectomy, Restorative/methods* ; Retrospective Studies

OBJECTIVE: To analyze the clinical features and genetic basis for a Chinese pedigree affected with familial adenomatous polyposis (FAP). METHODS: Clinical information of the patient was collected. Genomic DNA was extracted from peripheral blood sample of the patient and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RESULTS: The proband, a 33-year-old female, was found to have multiple adenomatous polyps in the intestine. WES revealed that she has harbored a heterozygous variant of the APC gene, namely c.1922dupA (p.N641fs*10), which was unreported previously. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic. CONCLUSION The c.1922dupA (p.N641fs*10) variant of the APC gene probably underlay the FAP in this pedigree. Above finding has enabled genetic counseling for this family.
Female ; Humans ; Adult ; Pedigree ; Adenomatous Polyposis Coli Protein/genetics* ; Germ-Line Mutation ; Adenomatous Polyposis Coli/genetics* ; China ; Mutation

Colonic Polyps/surgery* ; Colonoscopy ; Colorectal Neoplasms/surgery* ; Humans ; Intestinal Polyposis ; Microsurgery ; Treatment Outcome

OBJECTIVE: To explore the genetic basis for a pedigree affected with familial adenomatous polyposis (FAP). METHODS: The proband, with recurrence of blood in the stool, was diagnosed with FAP by endoscopy, pathological examination and a family history. She was subjected to next generation sequencing to detect genetic variant. Suspected variant was verified by Sanger sequencing of members from her pedigree. RESULTS: The proband, her mother and brother were found to carry a heterozygous c.532-1G>A variant of the APC gene, which may lead to aberrant splicing of mRNA resulting in a truncated protein, which may lose its normal function and promote the tumorigenesis. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.532-1G>A variant of APC gene was predicted to be pathogenic(PVS1+PP1+PP4+PP5). CONCLUSION The c.532-1G>A variant of the APC gene probably underlay the pathogenesis of FAP in this pedigree.
Adenomatous Polyposis Coli/genetics* ; Adenomatous Polyposis Coli Protein/genetics* ; Female ; Genes, APC ; Humans ; Male ; Neoplasm Recurrence, Local ; Pedigree

Although hair loss in Cronkhite-Canada syndrome (CCS) developed frequently, its exact mechanism has not been elucidated. Thus, we attempted to investigate the histopathologic features of hair loss with scalp biopsy in one case of CSS. The patient complained of persistent diarrhea and diffuse hair loss of the scalp 1 month prior to the hospital visit. CCS has been already diagnosed through colonoscopy and medical examination. Scalp biopsy was performed to evaluate hair loss of the patient, and pathologic examination showed increased telogen hairs (anagen to telogen is 7:8) without specific dermal inflammation and miniaturization of hair follicles. The patient was treated with topical and systemic steroids, and hair loss has almost completely recovered in 5 months. In this case, we investigated the clinical and pathological features of hair loss through scalp biopsy in one case of CCS and reported them with a review of the literature.
Alopecia ; Biopsy ; Colonoscopy ; Diarrhea ; Hair ; Hair Follicle ; Humans ; Inflammation ; Intestinal Polyposis ; Miniaturization ; Scalp ; Steroids

Cribriform-morular variant papillary thyroid carcinoma (CMV-PTC) is a rare cancer that may arise in patients with familial adenomatous polyposis (FAP). Adenomatous polyposis coli (APC) gene mutation is associated with FAP, which is known as a premalignant lesion of colon cancer. In this report, we report a 16 years old patient of CMV-PTC comorbid with FAP, which was related with a new type of APC gene mutation.
Adenomatous Polyposis Coli ; Colonic Neoplasms ; Genes, APC ; Humans ; Thyroid Gland ; Thyroid Neoplasms

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.
Anemia, Sickle Cell ; Arthritis, Infectious ; Cleidocranial Dysplasia ; Diagnosis ; Gardner Syndrome ; Hyperparathyroidism ; Klippel-Feil Syndrome ; Marfan Syndrome ; Neurofibromatosis 1 ; Osteopetrosis ; Pentalogy of Cantrell ; Poland Syndrome ; Polychondritis, Relapsing ; Retrospective Studies ; Rickets ; Scleroderma, Systemic ; Spondylitis, Ankylosing ; Sternoclavicular Joint ; Thalassemia ; Thoracic Wall ; Tuberculosis