PMC10070983_01
The pedigree diagram of the Chinese family with CAIS and the result of Sanger sequencing. (A) The pedigree diagram of the Chinese family. Black arrow indicates the proband, III-1; shapes in black indicate affected individuals, II-4, II-6, III-1and III-5. (B) Analysis of the DNA sequence. Sanger sequencing show the sequence encompassing the missense mutation (c.2197G>A) in the AR gene in the proband (III-1) and his sister (III-5).
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F1
AR gene on the X chromosome (c.2197G>A, p. Asp733Asn), which Sanger sequencing verified (Figure 1B).
Clinical and pathological manifestations of III-1. (A) Enhanced MRI of groin mass. (B) Photograph of the left gross pathology specimen showed a lobulated fleshy mass. (C) The right specimen showed a brown cross section similar to testis and a muscular mass nearby. (D) Photomicrograph showed a sheetlike arrangement of tumor cells separated by fibrous septa. (E) The tumor cells exhibited cytoplasmic clearing and squared-off large nuclei (H-E stain, 400x). (F) The tumor cells displayed cytoplasmic expression of PLAP (IHC, 400x), and (G) cell membrane-localized expression of CD117 (IHC, 400x).
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F2
Pelvic enhanced MR indicated that the uterus and ovary were absent, and there were mixed signal masses in the bilateral inguinal canal with irregular enhancement (Figure 2A). The general findings of the specimen showed that the left inguinal mass was well circumscribed, fleshy, bulging and hard, with a size of 10 cm x 7 cm x 6 cm, yellowish white in cross section (Figure 2B). The right mass was brown in cross section similar to testis, beside which a muscular tissue with a diameter of approximately 3 cm can be found (Figure 2C). The immunohistochemistry (IHC) staining results of the left inguinal mass were placental alkaline phosphatase (PLAP) ++, CD117 +++, AE1/AE3 -, AFP -, and HCG - (Figures 2D, E, F, G).
PMC10070983_02
Enhanced MRI (A,B) and Orchiectomy specimens (C) of III-5. *Right testicular seminoma, # Left paratesticular leiomyoma.
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F3
Enhanced MR revealed a circular mixed low signal mass in both groins (Figures 3A, B). Her surgical specimen photos are shown in Figure 3C.
PMC10070983_03
The pedigree diagram of the Chinese family with CAIS and the result of Sanger sequencing. (A) The pedigree diagram of the Chinese family. Black arrow indicates the proband, III-1; shapes in black indicate affected individuals, II-4, II-6, III-1and III-5. (B) Analysis of the DNA sequence. Sanger sequencing show the sequence encompassing the missense mutation (c.2197G>A) in the AR gene in the proband (III-1) and his sister (III-5).
fgene-14-1048600-g001.jpg
PMC10070983_03_fgene-14-1048600-g001.jpg
F1
AR gene on the X chromosome (c.2197G>A, p. Asp733Asn), which Sanger sequencing verified (Figure 1B).