PMC8053604_01
DCE-MRI of the maxillofacial region showed the mass located at the right side of tongue dorsum. (A) DCE-MRI before the treatment with concurrent cisplatin/radiation, the tumor size measured 1.6 X 1.4 X 1.7 cm. (B) DCE-MRI during the 8 months of bone marrow recovery therapy with cessation of concurrent cisplatin/radiation, the tumor size had increased to 3.7 X 3.0 X 3.1 cm. (C) DCE-MRI after completion of 21 fractions of reduced-dose radiotherapy, the tumor size had decreased to 3.2 X 2.3 X 2.8 cm. The white arrows indicated the location of the tumor. DCE-MRI, dynamic contrast-enhanced magnetic resonance imaging.
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Dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) of the maxillofacial region revealed a 1.6 X 1.4 X 1.7 cm mass located at the right side of tongue dorsum, with significant cervical lymphadenopathy (Figure 1A).
A pathological biopsy demonstrated highly differentiated squamous cell carcinoma. (A) Hematoxylin-eosin, original magnification 40X. (B) Hematoxylin-eosin, original magnification 200X.
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A pathological biopsy performed under local anesthesia demonstrated highly differentiated squamous cell carcinoma (Figure 2A and B).
(A and B) Physical examination showed generalized hyperpigmentation of the skin and a thumb malformation of the right hand, accompanied by a few cafe au lait spots, particularly of the upper extremities.
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In addition, he also exhibited generalized hyperpigmentation of the skin and a thumb malformation of the right hand, accompanied by a few cafe au lait spots, particularly of the upper extremities (Figure 3A and B).
Fanconi anemia complementation group A gene sequence diagram of the patient. (A) c.367C>T was detected in the patient and his father. (B) c.3971_3972delCGinsTT was detected in the patient and his mother. Variants were indicated with arrows; wt, wild type.
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Another one was a novel heterozygous mutation, c.3971_3972delCGinsTT, caused by a combination of c.3971C>T and c.3972G>T linkage mutations (Figure 4A and B).
Pedigree of the family. Filled and open symbols denoted affected and healthy individuals, respectively. An arrow indicated the index patient; diagonal line indicated deceased status. The mutation status was shown next to each symbol; wt, wild type.
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The two heterozygous mutations were inherited from his father and mother, respectively (Figure 5).