Adrenocortical carcinoma in a pediatric patient with li-fraumeni-like Syndrome: an endemic condition in southern Brazil

A 12-year-old boy with germline TP53-R337H mutation and family history of early adrenocortical carcinoma (ACC) was admitted to hospital with abdominal pain and distention. During the physical examination he presented cushingoid facies, high blood pressure and pulse rate.  The endocrine examination showed elevated serum cortisol, suppressed plasma adrenocorticotropic hormone and loss of circadian rhythm.   Abdominal ultrasound and computed tomography (CT) revealed a heterogeneous mass in the right adrenal gland with 13.5 x 10.4 x 9.4 cm sized and calcifications (Fig. 1 and 2). The tumor extended via an intrahepatic segment of inferior vein cava directly into the right atrium (Fig. 2).  Histological examination of the specimen revealed an adrenocortical tumor with high mitotic rate, atypical mitotic figures, necrosis and a diffuse proliferation of large polygonal and eosinophilic neoplastic cells, related to adrenocortical carcinoma (fig. 3). The patient deteriorate despite chemotherapy and died in a few months. Adrenal lesions are common and seen in 3–10% of the population, frequently an incidental finding and benign prognosis. In contrast, adrenocortical malignancies are very rare, with a maximum incidence between 40 and 50 years of age. It is even rarer in children and it is typically associated with two genetic syndromes: Beckwith-Wiedemann and Li-Fraumeni (LFS). (1)The incidence of ACC in children in southern Brazil is 2.9 - 4.2 cases/ million/year, while the worldwide is approximately 0.2 - 0.3 cases/million/year.  The difference of prevalence in that geographical region is related to a specific germline TP53 mutation (R337H), a low penetrance mutation that shown distinct phenotypes in different families, has been reported to be associated with ACC in children and other forms of cancer in the LFS spectrum. The incidence of this mutation in southern Brazil is 1:300 individuals in the general population, while in Europe and North America it is 1:2000 - 1:5000 people. (2) The LFS and similar phenotypes are characterized by an autosomal dominant inheritance pattern linked to a mutation in the TP53 tumor suppressor gene, associated with the diagnosis of various tumor types at a young age, such as ACC, breast cancer, central nervous system tumors, osteosarcomas and soft-tissue sarcomas. (3) The diagnosis of cancer has a bimodal age distribution, with the highest peak before the age of 10 and a second peak between 30-50 years old. In a study conducted in Southern Brazil were observed that 25% of pediatric patients with tumors related to LFS spectrum, fulfill clinical criteria for these syndromes.(4)Genetic tests are now more advanced and available, it becomes more common to diagnose genetic syndromes that increase the predisposition of neoplasms. Imaging tests can be useful in their screening and early diagnosis, with an impact on treatment and prognosis. The screening protocol proposed for patients with the germline TP53 mutation involves abdominal ultrasound, urinalysis, and blood test every 3-4 months and whole-body and brain MRIs once a year. (4)Highlighting that every children with ACC, especially in the endemic area of Brazil, should be investigated for the LFS for proper genetic counseling and management of families.

Adrenocortical carcinoma in a pediatric patient with Li-Fraumeni-like syndrome : an endemic condition in southern Brazil

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Aorto-enteric fistula: a case report

CASE PRESENTATION A 39-year-old patient that had a recent diagnosis of classic Hodgkin Lymphoma with  multiple enlarged retroperitoneal lymph nodes, yet to be staged, was admitted to the hospital with intense back pain and  large volume hematemesis. At first assessment, the patient was medicated, stabilized and submitted to esophagogastroduodenoscopy (EGD), which did not  show active bleeding. After a few hours, the patient had another episode of large volume hematemesis with subsequent hemorrhagic shock. Due to the absence of active bleeding at the  EGD  and to the presence of enlarged and suspicious lymph nodes near the second and third portions of the duodenum, as shown in prior abdominal computed tomography (CT) scan (figure 1a), the gastroenterology staff recommended a CT angiography to investigate the bleeding site. The exam showed retroperitoneal heterogeneous collection with gas bubbles around the aorta and contrast leakage from infrarenal aorta into the third duodenum portion (figures 1b and 1c), findings diagnostic for aorto-duodenal fistula. Then, the patient was sent to the hemodynamics department for endovascular repair, which confirmed active bleeding originated from the infrarenal aorta and was successfully corrected with stent insertion and angioplasty (figures 2a, 2b and 2c). DISCUSSION Aorto-enteric fistula (AEF) consists of a pathologic communication between the aortic lumen and any portion of the gastrointestinal tract². Without prompt intervention, the associated mortality approaches 100%¹. The main clinical signs are abdominal pain and an intermittent herald hemorrhage, resulting from repeated tamponation of the fistula by thrombus formation5. Aorto-enteric fistula may be primary or secondary: primary aorto-enteric fistula (PAEF) occurs in patients with no previous aortic surgery or trauma², as in our case; secondary AEF occurs as a complication of aortic reconstructive surgery, being far more common than primary ones. Both categories, however, are relatively rare, with an incidence of 0.02–0.07% for primary and of 1% for secondary fistulas1,2. PAEF are almost always related to a pre-existing aortic aneurysm². Nevertheless, other less common causes can be encountered, like inflammatory or infectious aortitis, actinic lesions, foreign bodies, and abdominal tumors³. The duodenum, especially its third and fourth portions, is the most common site of fistula, representing 80% of the AEF, involving the third portion in two-thirds of cases 3,4. Early clinical suspicion is essential for a successful outcome5. As our patient had no prior history of surgical intervention nor aortic aneurysm, the bleeding was initially investigated by an EGD, to rule out other causes of upper GI bleeding. However, the absence of active bleeding at the EGD does not rule out an aorto-duodenal fistula 5. Moreover, the length of the endoscope does not allow the visualization of the distal duodenum, where the fistula was located. Owing to its widespread availability, short acquisition time, and high resolution, CT with intravenous contrast has become the first-line modality for imaging evaluation of suspected aortoenteric fistula¹. The signs that strongly suggest a PAEF are the loss of continuity and air bubbles in the aortic wall, which are pathognomonic, and the visualization of the contrast within the GI lumen².

Aorto-enteric fistula: a case report

CASE PRESENTATION A 39-year-old patient that had a recent diagnosis of classic Hodgkin Lymphoma with  multiple enlarged retroperitoneal lymph nodes, yet to be staged, was admitted to the hospital with intense back pain and  large volume hematemesis. At first assessment, the patient was medicated, stabilized and submitted to esophagogastroduodenoscopy (EGD), which did not  show active bleeding. After a few hours, the patient had another episode of large volume hematemesis with subsequent hemorrhagic shock. Due to the absence of active bleeding at the  EGD  and to the presence of enlarged and suspicious lymph nodes near the second and third portions of the duodenum, as shown in prior abdominal computed tomography (CT) scan (figure 1a), the gastroenterology staff recommended a CT angiography to investigate the bleeding site. The exam showed retroperitoneal heterogeneous collection with gas bubbles around the aorta and contrast leakage from infrarenal aorta into the third duodenum portion (figures 1b and 1c), findings diagnostic for aorto-duodenal fistula. Then, the patient was sent to the hemodynamics department for endovascular repair, which confirmed active bleeding originated from the infrarenal aorta and was successfully corrected with stent insertion and angioplasty (figures 2a, 2b and 2c). DISCUSSION Aorto-enteric fistula (AEF) consists of a pathologic communication between the aortic lumen and any portion of the gastrointestinal tract². Without prompt intervention, the associated mortality approaches 100%¹. The main clinical signs are abdominal pain and an intermittent herald hemorrhage, resulting from repeated tamponation of the fistula by thrombus formation5. Aorto-enteric fistula may be primary or secondary: primary aorto-enteric fistula (PAEF) occurs in patients with no previous aortic surgery or trauma², as in our case; secondary AEF occurs as a complication of aortic reconstructive surgery, being far more common than primary ones. Both categories, however, are relatively rare, with an incidence of 0.02–0.07% for primary and of 1% for secondary fistulas1,2. PAEF are almost always related to a pre-existing aortic aneurysm². Nevertheless, other less common causes can be encountered, like inflammatory or infectious aortitis, actinic lesions, foreign bodies, and abdominal tumors³. The duodenum, especially its third and fourth portions, is the most common site of fistula, representing 80% of the AEF, involving the third portion in two-thirds of cases 3,4. Early clinical suspicion is essential for a successful outcome5. As our patient had no prior history of surgical intervention nor aortic aneurysm, the bleeding was initially investigated by an EGD, to rule out other causes of upper GI bleeding. However, the absence of active bleeding at the EGD does not rule out an aorto-duodenal fistula 5. Moreover, the length of the endoscope does not allow the visualization of the distal duodenum, where the fistula was located. Owing to its widespread availability, short acquisition time, and high resolution, CT with intravenous contrast has become the first-line modality for imaging evaluation of suspected aortoenteric fistula¹. The signs that strongly suggest a PAEF are the loss of continuity and air bubbles in the aortic wall, which are pathognomonic, and the visualization of the contrast within the GI lumen².  A case report focused on imaging aspects of an aortic-enteric fistula (AEF) in a 39-year-old patient with a recent diagnosis of classic Hodgkin Lymphoma with multiple enlarged retroperitoneal lymph nodes. AEF is a pathologic communication between the aortic lumen and any portion of the gastrointestinal tract. Without prompt intervention, the associated mortality approaches 100%. Early clinical suspicion is essential for a successful outcome and the role of imaging is fundamental to diagnose it. Owing to its widespread availability, short acquisition time, and high resolution, CT with intravenous contrast has become the first-line modality for imaging evaluation of suspected aortic-enteric fistula

Aorto-enteric fistula: a case report

CASE PRESENTATION A 39-year-old patient that had a recent diagnosis of classic Hodgkin Lymphoma with  multiple enlarged retroperitoneal lymph nodes, yet to be staged, was admitted to the hospital with intense back pain and  large volume hematemesis. At first assessment, the patient was medicated, stabilized and submitted to esophagogastroduodenoscopy (EGD), which did not  show active bleeding. After a few hours, the patient had another episode of large volume hematemesis with subsequent hemorrhagic shock. Due to the absence of active bleeding at the  EGD  and to the presence of enlarged and suspicious lymph nodes near the second and third portions of the duodenum, as shown in prior abdominal computed tomography (CT) scan (figure 1a), the gastroenterology staff recommended a CT angiography to investigate the bleeding site. The exam showed retroperitoneal heterogeneous collection with gas bubbles around the aorta and contrast leakage from infrarenal aorta into the third duodenum portion (figures 1b and 1c), findings diagnostic for aorto-duodenal fistula. Then, the patient was sent to the hemodynamics department for endovascular repair, which confirmed active bleeding originated from the infrarenal aorta and was successfully corrected with stent insertion and angioplasty (figures 2a, 2b and 2c). DISCUSSION Aorto-enteric fistula (AEF) consists of a pathologic communication between the aortic lumen and any portion of the gastrointestinal tract². Without prompt intervention, the associated mortality approaches 100%¹. The main clinical signs are abdominal pain and an intermittent herald hemorrhage, resulting from repeated tamponation of the fistula by thrombus formation5. Aorto-enteric fistula may be primary or secondary: primary aorto-enteric fistula (PAEF) occurs in patients with no previous aortic surgery or trauma², as in our case; secondary AEF occurs as a complication of aortic reconstructive surgery, being far more common than primary ones. Both categories, however, are relatively rare, with an incidence of 0.02–0.07% for primary and of 1% for secondary fistulas1,2. PAEF are almost always related to a pre-existing aortic aneurysm². Nevertheless, other less common causes can be encountered, like inflammatory or infectious aortitis, actinic lesions, foreign bodies, and abdominal tumors³. The duodenum, especially its third and fourth portions, is the most common site of fistula, representing 80% of the AEF, involving the third portion in two-thirds of cases 3,4. Early clinical suspicion is essential for a successful outcome5. As our patient had no prior history of surgical intervention nor aortic aneurysm, the bleeding was initially investigated by an EGD, to rule out other causes of upper GI bleeding. However, the absence of active bleeding at the EGD does not rule out an aorto-duodenal fistula 5. Moreover, the length of the endoscope does not allow the visualization of the distal duodenum, where the fistula was located. Owing to its widespread availability, short acquisition time, and high resolution, CT with intravenous contrast has become the first-line modality for imaging evaluation of suspected aortoenteric fistula¹. The signs that strongly suggest a PAEF are the loss of continuity and air bubbles in the aortic wall, which are pathognomonic, and the visualization of the contrast within the GI lumen².