PMC8350335_01
The pituitary images in different period of Case 1. (A, B) Pituitary magnetic resonance imaging (MRI) 10 and 5 months ago both demonstrated suspected "pituitary microadenoma" on the right side. (C) Three months ago, enhanced MRI showed the mass in sella turcica enlarged to 1.3 x 0.9 cm, involving the right cavernous sinus and internal carotid artery. (D) One months ago, the pituitary MRI showed the mass might be "pituitary macroadenoma" (12.7 x 6.7 x 11.1 mm, demonstrating equal T1 and equal T2 signal with slightly homogeneous enhancement) in the sellar region with the right cavernous sinus invasion (Knosp IV). (E) Pituitary MRI reexamination half months after biopsy surgery showed the mass enlarged compared with before, involving bilateral cavernous sinus. (F, G) Enhanced head MRI + DWI and Pituitary gland plain scan + enhanced MRI showed the mass was significantly smaller than before after three months' chemotherapy.
fendo-12-673908-g001.jpg
PMC8350335_01_fendo-12-673908-g001.jpg
f1
P <0.159 nmol/L, testosterone <0.087 nmol/L, DHEA 0.1 mumol/L, prolactin of 792 mIU/L (NR: 166-507 nmol/L); GH 1.2 ng/ml. Pituitary magnetic resonance imaging (MRI) 10 and 5 months ago both demonstrated suspected "pituitary microadenoma" on the right side ( Figures 1A, B ). The MRI three months ago showed the mass in sella turcica enlarged to 1.3 x 0.9 cm, involving the right cavernous sinus and internal carotid artery ( Figure 1C ). The pituitary MRI showed the mass might be "pituitary macroadenoma" (12.7 x 6.7 x 11.1 mm, demonstrating equal T1 and equal T2 signal with slightly homogeneous enhancement) in the sellar region with the right cavernous sinus invasion (Knosp IV) ( Figure 1D ). Pituitary MRI reexamination half months after biopsy surgery showed the mass enlarged compared with before, involving bilateral cavernous sinus ( Figure 1E ). MRI scan showed marked reduction of the tumor size ( Figures 1F, G ).
PMC8350335_02
PET-CT one month ago showed the mass (2.3 x 2.0 cm) in pituitary gland with increased FDG uptake and SUVmax of 75.7 in Case 2.
fendo-12-673908-g002.jpg
PMC8350335_02_fendo-12-673908-g002.jpg
f2
PET-CT showed the mass (2.3 x 2.0 cm) in pituitary gland with increased FDG uptake and SUVmax of 75.7 ( Figure 2 ).
Diagram of TP53 c.401T>G (p.F134C) alteration in Case 2. (A) The base of c.401 mutated from T to G and amino acid changed from phenylalanine to cysteine. (B) The 3-dimentional model structure of TP53 wild-type analyzed by SWISSMODEL. (C) The Phe134 of TP53. (D) The Cys134 of mutated TP53.
fendo-12-673908-g003.jpg
PMC8350335_02_fendo-12-673908-g003.jpg
f3
NGS testing for lymphoma-related genes of CSF sample showed the patient contained point mutations of MYD88 (c.794T>C), TP53 (c.401T>G), CD79B (c.68-1G>C), PCLO (c.6632C>T) and JAK2 (c.678G>T), amplification of gene JAK2, CD274, PDCD1LG2 and fusion of gene BCL6-LPP ( Table 1 ).  Figures 3  and  4  schematically display two mutations closely related to poor prognosis of lymphoma, TP53 (c.401T>G) mutation and BCL6-LPP fusion, which existed in patient 2 but not in patient 1.
Schematic representation of the BCL6-LPP fusion in Case 2. An 838 kb-sized deletion of chromosome 3q27.3-3q28 (base 187461439 on chromosome 3q27 to base 188299507 on chromosome 3q28), resulting in a fusion of the BCL6 with the LPP gene.
fendo-12-673908-g004.jpg
PMC8350335_02_fendo-12-673908-g004.jpg
f4
NGS testing for lymphoma-related genes of CSF sample showed the patient contained point mutations of MYD88 (c.794T>C), TP53 (c.401T>G), CD79B (c.68-1G>C), PCLO (c.6632C>T) and JAK2 (c.678G>T), amplification of gene JAK2, CD274, PDCD1LG2 and fusion of gene BCL6-LPP ( Table 1 ).  Figures 3  and  4  schematically display two mutations closely related to poor prognosis of lymphoma, TP53 (c.401T>G) mutation and BCL6-LPP fusion, which existed in patient 2 but not in patient 1.
Pituitary MRI at two months from the beginning of chemotherapy demonstrated the tumor (size of about 2 x 1.5 x 3.2 cm) was larger than before without cavernous sinus involving in Case 2.
fendo-12-673908-g005.jpg
PMC8350335_02_fendo-12-673908-g005.jpg
f5
A pituitary MRI at two months from the beginning of chemotherapy demonstrated the tumor (size of about 2 x 1.5 x 3.2 cm) was larger than before without cavernous sinus involving ( Figure 5 ).