Aggressive juvenile polyposis in children with chromosome 10q23 deletion.

[cowden syndrome]

Juvenile polyps are relatively common findings in children , while juvenile polyposis syndrome (JPS ) is a rare hereditary syndrome entailing an increased risk of colorectal cancer . Mutations in BMPR 1 A or SMAD 4 are found in roughly half of patients diagnosed with JPS . Mutations in PTEN gene are also found in patients with juvenile polyps and in Bannayan-Riley -Ruvalcaba syndrome and Cowden syndrome . Several previous reports have described microdeletions in chromosome 10 q 23 encompassing both PTEN and BMPR 1 A causing aggressive polyposis and malignancy in childhood . These reports have also described extra -intestinal findings in most cases including cardiac anomalies , developmental delay and macrocephaly . In this report we describe a boy with a 5 .75 Mb deletion of chromosome 10 q 23 and a 1 .03 Mb deletion within chromosome band 1 p 31 .3 who displayed aggressive juvenile polyposis and multiple extra -intestinal anomalies including macrocephaly , developmental delay , short stature , hypothyroidism , atrial septal defect , ventricular septal defect and hypospadias . He required colectomy at six years of age , and early colectomy was a common outcome in other children with similar deletions . Due to the aggressive polyposis and reports of dysplasia and even malignancy at a young age , we propose aggressive gastrointestinal surveillance in children with 10 q 23 microdeletions encompassing the BMPR 1 A and PTEN genes to include both the upper and lower gastrointestinal tracts , and also include a flowchart for an effective genetic testing strategy in children with juvenile polyposis .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated