PMC9815498_01
(A-C) all showed symptoms of NF1: multiple flat, light-brown patches of skin pigment, skin fold wrecking, visible neurofibromas under the skin. (A) is the mother of (B, C).
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On admission, a physical examination was performed, with neurofibroma, cafe au lait macules, skin fold freckling detected all over the patient's body ( Figure 1 ), which were diagnosed as gastrointestinal neoplasms and neurofibromatosis type 1. Multiple subcutaneous nodules were observed on the chest, neck, abdomen and back. ( Supplementary Figure 1 ) MRI of head showed no abnormality. Postoperative pathology ( Supplementary Figure 1 ) confirmed the mass on the ileocecal area of the small intestine as moderate-differentiated adenocarcinoma, invading the subserosal connective tissues, without metastasis to the mesenteric lymph nodes (0/15).
Pedigree of family. The black symbols indicate neurofibromatosis type 1. Numbers on right-top gives the current age. The blue arrow means the proband.
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A detailed family history survey revealed that the patient's sons and granddaughter also had neurofibromatosis ( Figure 2 ). Treitz ligament ( Supplementary Figure 2 ). The ileocecal tumor was resected, accompanied with its corresponding mesentery, and the mass on the lateral wall of the small intestine.
The Integrative Genome Viewer (IGV) snapshot of NF1.
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The proband's grandson detected with wild-type NF1 ( Figure 3 ).
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The Integrative Genome Viewer (IGV) snapshot of NF1.
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The proband's grandson detected with wild-type NF1 ( Figure 3 ).