PMC10185818_01
Histopathological findings of NUT carcinoma. (A) The tumor cells were distributed in nests (x40). (B) The structure was similar to that of lymphoepitheliomatoid carcinoma (x100). (C) The tumor cells had large nuclei, abnormal karyotypes, some nucleoli and occasional mitotic figures (x400). (D) NUT(+) (x200). (E) AE1/AE3 (partial+) (x200). (F) Squamous tumor cells EMA (partial+) (x200). (G) F1i-1 (individual+) (x200).
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People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine showed NUT carcinoma. Pathological results: Hematoxylin and eosin (HE) staining showed that the tumor cells were distributed in nests ( Figure 1A ). Lymphocytes in the stroma infiltrated in strips, similar to the structure of lymphoepitheliomatoid carcinoma ( Figure 1B ). Some nucleoli were seen, and mitotic figures were occasionally seen ( Figure 1C ).
NUT gene rearrangement detection(FISH- Right parotid gland tissue). The green signal(G) was GSP NUT(Telomere); The red signal  was GSP NUT(Centromere). (A) Negative control. (B) Positive control. (C). FISH NUT (+) (red and green signal separation was seen in tumor cells, indicating that the gene was disrupted, Each signal mode is as follows: 1G1R1F 64.0%,IG1F 8.0%,1R1F 5.0%,1GIR 10.0%,2G1R 3.0%,IF 5.0%,2F 5.0%.).
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NUT (+); AE1/AE3 (partial+); EMA (partial+); p63 (focal+); CK7, CK9, and MUC-1 slightly expressed; F1i-1 individual cells (+);CD56 and Syn (-). NUT gene rearrangement detection(FISH- Right parotid gland tissue): NUT gene break rearrangement detected, ( Figure 2 ).
Photomicrograph of PD-L1 immunohistochemistry (right parotid gland). (A) Sample HE photomicrograph (x200). (B) Sample PD-L1 IHC photomicrograph (x200).
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On April 15, 2021, the PD-L1 immunohistochemistry test results showed a tumor cell positive score (TPS) <1% and a combined positive score (CPS) <1 ( Figure 3 ).
Comparison of CT results before and after treatment. On October 19, 2021, CT showed the following: (A) There was a right anterior abdominal wall mass approximately 45.15 mm in size. (B) Multiple intrahepatic masses were significantly enlarged and fused into a mass, with the maximum diameter of about 102.89mm.(C) The T5 soft tissue mass on the right side of the vertebral body approximately 19.45 mm in size. (D) The size of the T4-6 vertebrae metastasis on the left was approximately 10.66mm. On November 19, 2021, CT showed the following: (E) the right anterior abdominal wall mass had grown to 63.15 mm. (F) The size of the liver metastasis increased to 116.63 mm. (G) The T5 soft tissue mass on the right side of the vertebral body had increased to 33.81mm. (H) The mass on the left side of the T4-6 vertebrae was approximately 17.59mm. On December 21, 2021, CT showed the following: (I) The right anterior abdominal wall mass had decreased in size to 42.60 mm. (J) The sizes of the multiple masses in the liver were reduced to 87.69 mm. (K) The soft tissue mass surrounding the T5 vertebrae was 19.94 mm. (L) The mass on the left side of the T4-6 vertebrae was approximately 11.47 mm.
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The curative effect was evaluated as PR ( Figure 4 ).
Timeline. The bold black text above the time axis indicates the time point of each examination; the bold blue text below the time axis indicates the time point of each treatment.
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On June 24, 2022, the patient died of multiple organ failure caused by extensive metastasis of the NUT carcinoma ( Figure 5 ).