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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report

Fig. 1

Photograph of the patient skin cafe´-au-lait macules located on (A) the anterior abdominal wall and (B) lower back and (C) a hairy pigmented cutaneous nevi located on the forearm. Pathologic findings showing (E) diffuse tumor cells, abundant focal cells with atypia, and vascular hyperplasia (HE, ×200); (G) diffuse tumor cells with different forms, multinucleated tumor cells, and focal interstitial small vessel hyperplasia (HE, ×200); (H) colon tubular adenomas, atypical tumor cells, deep-dyed big nucleolus and the mitosis were common (HE, ×200); (I) the expression loss of PMS2 proteins in both tumor and non-neoplastic tissue (IHC, ×200). MRI of the patient brain showing (D) a right temporal-occipital ring-enhancing lesion (arrow) of about 3.5 × 4.5 cm in size at the age of 16, (F) vascular enhancement of nodular mass (arrow) at the site of the previous surgery at the age of 16, (J, K) aggressive tumor relapse (arrow) at the age of 18

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