Diagnosis and Treatment > Signs and Symptoms
Search for other papers by Impana Shetty in
Google Scholar
PubMed
Search for other papers by Sarah Fuller in
Google Scholar
PubMed
Search for other papers by Margarita Raygada in
Google Scholar
PubMed
Search for other papers by Maria J Merino in
Google Scholar
PubMed
Search for other papers by B J Thomas in
Google Scholar
PubMed
Search for other papers by Brigitte C Widemann in
Google Scholar
PubMed
Search for other papers by Karlyne M Reilly in
Google Scholar
PubMed
Search for other papers by Karel Pacak in
Google Scholar
PubMed
Search for other papers by Jaydira Del Rivero in
Google Scholar
PubMed
Summary
Adrenocortical carcinoma (ACC) is an aggressive cancer that originates in the cortex of the adrenal gland and generally has a poor prognosis. ACC is rare but can be more commonly seen in those with cancer predisposition syndromes (e.g. Li-Fraumeni and Lynch Syndrome). The diagnosis of ACC is sometimes uncertain and it requires the use of precise molecular pathology; the differential diagnosis includes pheochromocytoma, adrenal adenoma, renal carcinoma, or hepatocellular carcinoma. We describe a case of a 57-year-old woman with Lynch Syndrome and metastatic ACC who was initially diagnosed as having pheochromocytoma. The tumor was first identified at 51 years of age by ultrasound followed by a CT scan. She underwent a left adrenalectomy, and the histopathology identified pheochromocytoma. Two years later, she had tumor recurrence with imaging studies showing multiple lung nodules. Following a wedge resection by video-assisted thoracoscopic surgery (VATS), histopathology was read as metastatic pheochromocytoma at one institution and metastatic ACC at another institution. She later presented to the National Institutes of Health (NIH) where the diagnosis of ACC was confirmed. Following her ACC diagnosis, she was treated with mitotane and pembrolizumab which were stopped due to side effects and progression of disease. She is currently receiving etoposide, doxorubicin, and cisplatin (EDP). This case highlights the importance of using a multi-disciplinary approach in patient care. Thorough evaluation of the tumor’s pathology and analysis of the patient’s genetic profile are necessary to obtain the correct diagnosis for the patient and can significantly influence the course of treatment.
Learning points:
-
Making the diagnosis of ACC can be difficult as the differential diagnosis includes pheochromocytoma, adrenal adenoma, renal carcinoma, or hepatocellular carcinoma.
-
Patients with Lynch Syndrome should undergo surveillance for ACC as there is evidence of an association between Lynch Syndrome and ACC.
-
Conducting a complete tumor immunoprofile and obtaining a second opinion is very important in cases of suspected ACC in order to confirm the proper diagnosis.
-
A multi-disciplinary approach including genetic testing and a thorough evaluation of the tumor’s pathology is imperative to ensuring that the patient receives an accurate diagnosis and the appropriate treatment.
Search for other papers by Alessandro Rossini in
Google Scholar
PubMed
Search for other papers by Francesca Perticone in
Google Scholar
PubMed
Search for other papers by Laura Frosio in
Google Scholar
PubMed
Search for other papers by Marco Schiavo Lena in
Google Scholar
PubMed
Search for other papers by Roberto Lanzi in
Google Scholar
PubMed
Summary
ACTH-secreting pheochromocytoma is a very rare cause of Cushing’s syndrome, with a high morbidity and mortality risk due to both cortisol and catecholamines excess. We report the case of a 45-year-old female patient with a 3 cm, high-density, left adrenal mass, diagnosed as an ACTH-secreting pheochromocytoma. The biochemical sensitivity of the tumor to somatostatin analogues was tested by a 100 μg s.c. octreotide administration, which led to an ACTH and cortisol reduction of 50 and 25% respectively. In addition to alpha and beta blockers, preoperative approach to laparoscopic adrenalectomy included octreotide, a somatostatin analogue, together with ketoconazole, in order to achieve an adequate pre-surgical control of cortisol release. Histopathological assessment confirmed an ACTH-secreting pheochromocytoma expressing type 2 and 5 somatostatin receptors (SSTR-2 and -5).
Learning points:
-
ACTH-secreting pheochromocytomas represent a rare and severe condition, characterized by high morbidity and mortality risk.
-
Surgical removal of the adrenal mass is the gold standard treatment, but adequate medical therapy is required preoperatively to improve the surgical outcome and to avoid major complications.
-
Somatostatin analogs, in addition to other medications, may represent a useful therapeutic option for the presurgical management of selected patients.
-
In this sense, the octreotide challenge test is a useful tool to predict favorable therapeutic response to the treatment.
Search for other papers by Diana Oliveira in
Google Scholar
PubMed
Search for other papers by Mara Ventura in
Google Scholar
PubMed
Search for other papers by Miguel Melo in
Google Scholar
PubMed
Search for other papers by Sandra Paiva in
Google Scholar
PubMed
Search for other papers by Francisco Carrilho in
Google Scholar
PubMed
Summary
Addison’s disease (AD) is the most common endocrine manifestation of antiphospholipid syndrome (APS), but it remains a very rare complication of the syndrome. It is caused by adrenal venous thrombosis and consequent hemorrhagic infarction or by spontaneous (without thrombosis) adrenal hemorrhage, usually occurring after surgery or anticoagulant therapy. We present a clinical case of a 36-year-old female patient with a previous diagnosis of APS. She presented with multiple thrombotic events, including spontaneous abortions. During evaluation by the third episode of abortion, a CT imaging revealed an adrenal hematoma, but the patient was discharged without further investigation. A few weeks later, she presented in the emergency department with manifestations suggestive of adrenal insufficiency. Based on that assumption, she started therapy with glucocorticoids, with significant clinical improvement. After stabilization, additional investigation confirmed AD and excluded other etiologies; she also started mineralocorticoid replacement. This case illustrates a rare complication of APS that, if misdiagnosed, may be life threatening. A high index of suspicion is necessary for its diagnosis, and prompt treatment is crucial to reduce the morbidity and mortality potentially associated.
Learning points:
-
AD is a rare but life-threatening complication of APS.
-
It is important to look for AD in patients with APS and a suggestive clinical scenario.
-
APS must be excluded in patients with primary adrenal insufficiency and adrenal imaging revealing thrombosis/hemorrhage.
-
Glucocorticoid therapy should be promptly initiated when AD is suspected.
-
Mineralocorticoid replacement must be started when there is confirmed aldosterone deficiency.
-
Hypertension is a common feature of APS; in patients with APS and AD, replacement therapy with glucocorticoids and mineralocorticoids may jeopardize hypertension management.
