Objective: Liposarcoma is the most common histotype of retroperitoneal sarcomas, representing up to 45% of all cases. We report a rare combination of acromegaly and liposarcoma in the same individual. Methods: Laboratory and imaging studies including an oral glucose tolerance test, measurements of growth hormone (GH) and insulin-like growth factor-1 (IGF-1), and a computed tomography scan were performed. Results: The patient was a 60-year-old male with a history of acromegaly diagnosed on the basis of elevated IGF-1 at 1,373 ng/mL (age-appropriate reference range is 87 to 225 ng/mL) and macroadenoma treated with transsphenoidal surgery. He presented 8 years later with a history of abdominal distension and weight loss. Physical examination was notable for a right-sided abdominal mass that was tense and non-fluctuant. Two years earlier, he had a post oral glucose tolerance test GH level <0.25 ng/mL and IGF-1 level of 256 ng/mL (age-appropriate reference range is 55 to 206 ng/mL). Pituitary magnetic resonance imaging reported a 3.7 × 2.0-mm left-sided parasagittal lesion. Computed tomography scan showed a 25.0 × 22.0 × 32.3-cm heterogeneous giant mass in the right abdomen corresponding to a liposarcoma causing displacement of kidney, liver, and bowel loops. The patient was treated with a complete en bloc resection of the liposarcoma with the right kidney (45 × 33 × 17 cm) and tumor (9,400 g). Immunohistochemical examination revealed positive IGF-1 and GH staining. The patient suffered postoperative gastrointestinal bleeding that resulted in hemorrhagic shock and died on the 29th postoperative day after a cardiorespiratory arrest. Conclusion: Acromegalic patients are at increased risk of developing various types of neoplasms. This is the first documented coexistence of liposarcoma and history of acromegaly.

Objective Inherited MAX gene pathogenic variants (PVs) increase risk for pheochromocytomas (PCCs) and/or paragangliomas (PGLs) in adults and children. There is little clinical experience with such mutations. This report highlights an important approach. Methods Clinical assessment, including blood chemistry, imaging studies, and genetic testing were performed. Results A 38-year-old Hispanic woman was diagnosed with PCC in 2015, treated with adrenalectomy and referred to endocrinology clinic. Notably, she presented to her primary care physician three years earlier complaining of left flank pain, intermittent diaphoresis and holocranial severe headache. We confirmed severe hypertension (180/100 mmHg) over multiple antihypertensive regimens. Biochemical and radiological studies work-up revealed high plasma metanephrine of 255 pg/mL (normal range &lt; 65), and plasma normetanephrine of 240 pg/mL (normal range &lt; 196). A non-contrast computed tomography scan of the abdomen revealed a 4.2 x 4.3 x 4.9 cm, round-shaped and heterogenous contrast enhancement of the left adrenal gland, and a 2-mm nonobstructive left kidney stone. A presumptive diagnosis of secondary hypertension was made. After pharmacological therapy, laparoscopic left adrenalectomy was performed and confirmed the diagnosis of pheochromocytoma. Based on both her age, family history and a high suspicion for genetic etiology, genetic testing was performed which revealed the presence of a novel likely pathogenic variant involving a splice consensus sequence in the MAX gene, designated c.64-2A&gt; G). Conclusion The phenotype of MAX PV-related disease and paraganglioma are highlighted. The novel c.64-2A&gt; G mutation is reported here and should be considered on the diagnostic work-up of similar cases.

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