https://orcid.org/0000-0001-5019-0699
-
Views
-
Cite
Cite
Julieann C Lee, Amar Gajjar, Melissa R Perrino, Angela Delaney, Christopher L Tinkle, Paul Klimo, Larissa V Furtado, Yen-Chun Liu, Alex Breuer, Soniya N Pinto, Asim K Bag, David W Ellison, Brent A Orr, Concurrent Pit-1 and SALL4 staining in primitive component of pituitary blastoma: A case report with clinicopathologic features including Cushing syndrome presentation, germline DICER1 mutation, and significant therapeutic response to chemoradiation, Journal of Neuropathology & Experimental Neurology, Volume 84, Issue 5, May 2025, Pages 436–440, https://doi.org/10.1093/jnen/nlae126
Close - Share Icon Share
Extract
To the Editor,
Pituitary blastoma is a rare CNS entity of the sellar region, initially described by Scheithauer et al in 2008,1,2 with reported cases in the literature currently approaching 20.3,4 The 3 histologic features of pituitary blastoma are (1) a primitive embryonal component, (2) a neuroendocrine component, and (3) a Rathke-type epithelium. Typically occurring in children less than 2 years of age, with Cushing syndrome being a common clinical presentation,4,5 pituitary blastoma is known to occur in association with germline DICER1 mutation.6–8 Given the rarity of this entity, we report the clinical, histologic, and imaging features of an additional patient with a pituitary blastoma, including the novel immunohistochemical finding of concurrent SALL4 and Pit-1 immunostaining within the primitive component of the tumor.
A 2-year-old male child presented with sudden and significant weight gain, advancing from the 28th percentile by weight to over the 97% percentile within 4 months. He also had pronounced left eye ptosis. During that time, he frequently consumed large meals, often asked for additional food soon after completing a meal, became irritable if food was taken away, and always appeared to be hungry. He was found to have elevated cortisol. MRI showed a heterogeneously enhancing sellar/suprasellar mass with left cavernous sinus invasion that measured 3.9 cm × 3.2 cm (Figure 1A). The tumor demonstrated T2 hypointensity and associated diffusion restriction suggesting hypercellularity. After subtotal resection of the pituitary blastoma, the patient was treated with 2 cycles of induction chemotherapy (cyclophosphamide, carboplatin, etoposide) followed by focal radiation therapy (54 CGE proton therapy). Postoperative residual disease diminished significantly with treatment, showing no evidence of residual disease or recurrence by imaging at 1.2 years after surgery (Figure 2I–M).
