Evidence of the Role of Inflammation and the Hormonal Environment in the Pathogenesis of Adrenal Myelolipomas in Congenital Adrenal Hyperplasia.

Adrenal myelolipomas (AML) are composed of mature adipose and hematopoietic components. They represent approximately 3 percent of adrenal tumors and are commonly found in patients with congenital adrenal hyperplasia (CAH). CAH provides a unique environment to explore AML pathogenesis. We aimed to evaluate the role of the immune system and hormones that accumulate in poorly controlled CAH in the development of AML. When compared to normal adrenal tissue, CAH-affected adrenal tissue and myelolipomas showed an increased expression of inflammatory cells (CD68, IL2Rbeta), stem cells (CD117) B cells (IRF4), and adipogenic markers (aP2/FABP4, AdipoQ, PPARγ, Leptin, CideA), and immunostaining showed nodular lymphocytic accumulation. Immunohistochemistry staining revealed a higher density of inflammatory cells (CD20, CD3, CD68) in CAH compared to non-CAH myelolipomas. In vitro RNA-sequencing studies using NCI-H295R adrenocortical cells with exogenous exposure to ACTH, testosterone, and 17-hydroxyprogesterone hormones, showed the differential expression of genes involved in cell cycle progression, phosphorylation, and tumorigenesis. Migration of B-lymphocytes was initiated after the hormonal treatment of adrenocortical cells using the Boyden chamber chemotaxis assay, indicating a possible hormonal influence on triggering inflammation and the development of myelolipomas. These findings demonstrate the important role of inflammation and the hormonal milieu in the development of AML in CAH.

Prevalence, Anatomical Distribution, and Risk Factors of Adipocytic Tumors and Xanthomas in Psittaciformes: 1096 Cases (1998-2018).

Adipocytic tumors are mesenchymal tumors that are commonly reported in psittacine birds; however, large-scale studies evaluating their prevalence and associated risk factors are lacking. A retrospective study of adipocytic tumors in psittacine birds was performed by reviewing pathology submissions from the University of California, Davis-Drury Reavill Pathology Database, containing 26 013 submissions from psittacine birds (1998-2018). Age, sex, genus, anatomic distribution, and pathological diagnosis were collected for each case when available. The prevalence, risk factors, and association with other lipid-accumulation disorders were reported. A total of 450 cases of lipoma, 129 cases of myelolipoma, 35 cases of hemangiolipoma, 31 cases of liposarcoma, and 451 cases of xanthoma were identified. The prevalence of adipocytic tumors and xanthomas on necropsy was 1.3% (158/11 737, 95% confidence interval [CI]: 1.1-1.6). Adipocytic tumors were identified in 27 genera. Amazona (odds ratio [OR] = 1.93, 95% CI: 1.24-2.99, p = 0.004), Myiopsitta (OR = 2.3, 95% CI: 1.0-5.2, p = 0.041), Melopsittacus (OR = 3.4, 95% CI: 2.1-5.5, p < 0.001), and Agapornis (OR = 3.5, 95% CI: 2.0-6.1, p < 0.001) had significantly higher odds of developing adipocytic tumors compared with other genera, whereas Ara had significantly lower odds (OR = 0.5, 95% CI: 0.3-0.9, p = 0.030). Age was also a significant risk factor for many types of adipocytic tumors. There was no significant association between general adipocytic tumor formation and atherosclerosis or hepatic lipidosis. Xanthomas were associated with atherosclerosis (OR = 1.88, 95% CI: 1.01-3.51, p = 0.048), but not hepatic lipidosis (p = 0.503). On necropsy, the trunk and air sacs were the most common sites of xanthoma formation, whereas the trunk and liver were the most common sites of lipoma and myelolipoma formation, respectively.

Simultaneous adrenal and retroperitoneal myelolipoma resected by laparoscopic surgery: a challenging case.

BACKGROUND: Myelolipoma is a benign neoplasm of the adrenal cortex, composed of fat and hematopoietic cells. Although myelolipoma is benign, differentiation from adrenocortical cancer may be difficult. The presence of adrenal and extra-adrenal myelolipomas simultaneously is sporadic, making it a challenging case, especially when the preoperative diagnosis is ambiguous. CASE PRESENTATION: A 65-year-old man was referred to our clinic due to a mass in the adrenal fossa. In the abdominopelvic computed tomography (CT), a well-circumscribed fat-containing 78 × 61 × 65 mm bi-lobulated mass was reported in the left adrenal fossa. The first differential diagnosis was myelolipoma. The patient was then referred to our clinic for a mass excision. He was asymptomatic and was scheduled to undergo laparoscopic-assisted adrenalectomy. After adrenalectomy and mass dissection, surprisingly, another mass was detected in the retroperitoneal area. The second mass was also dissected. The final diagnosis was myelolipoma for both masses. The patient has been symptom-free for nine months after the operation. CONCLUSION: Simultaneous adrenal and extra-adrenal myelolipoma should be considered as one of the differential diagnoses. However, because this situation is extremely rare, the probability of malignancy should be highly regarded, and we suggest an obsessive approach when approaching this condition. It is essential to manage these cases on a case-by-case basis and tailor the management concerning intraoperative biopsy, the intraoperative appearance of tumors, and the location of extra-adrenal masses.

Bronchoscopic treatment of multiple bronchial myelolipomas: a case report and literature review.

BACKGROUND: Extra-adrenal myelolipoma is an unusual entity, and endobronchial myelolipoma is rarer, which is often ignored by clinicians, delaying the disease and affecting the prognosis. CASE PRESENTATION: A 71-year-old man with a history of chronic obstructive pulmonary disease (COPD) and type 2 diabetes mellitus, with recurrent fever, cough, and expectoration for more than 2 weeks experienced relief in cough, phlegm reduction, and glycemic control with anti-inflammatory treatment. Further examination revealed that new growths obstructing all lobar bronchi impaired flexible bronchoscope entry. In order to relieve the patient's symptoms, under general anesthesia, we performed liquid nitrogen cryobiopsy at multiple bronchial openings, and then used argon plasma coagulation (APC) to achieve hemostasis. The pathological diagnosis was bronchial myelolipoma. The largest volume of the resected tissue was a mass measuring 0.6 cm × 0.4 cm × 0.3 cm at the bronchial opening of the upper lobe of the left lung. The patient's condition was stable and the symptoms were partially relieved after surgery. No recurrence was observed during the 12-month follow-up, although the long-term treatment efficacy is unknown. CONCLUSION: Pathological biopsy is key to the diagnosis of endobronchial myelolipoma, and the development of the endobronchial myelolipomas may have been associated with long-term poor control of steroid levels in this patient.

Spinal myelolipoma - an extremely rare pathology within the lumbar spine: a case report and literature review.

Myelolipoma is a benign tumor containing mature adipose cells and a combination of myeloid and erythroid elements. This tumor is typically found in the adrenal glands; however, it has been detected outside the adrenal glands in rare cases. We report an extremely rare case of myelolipoma in the lumbar spine causing significant neural compression due to the involvement of the posterior spinal elements. Given the significant neurological deficit, the patient was surgically managed as soon as possible. Extra-adrenal myelolipomas are rare lesions, and only one case has been reported in the spine so far. However, this diagnosis should be considered in cases with its characteristic imaging features.

A Two-in-One Tumor in the Adrenal: A Functional Adrenocortical Adenoma with Myelolipomatous Differentiation.

BACKGROUND: Adrenocortical adenoma (ADA) and myelolipoma are two common benign neoplasms of the adrenal cortex that have been reported to occur together. CASE REPORT: A 14-year-old girl presented with the features of ACTH-independent endogenous Cushing syndrome. Abdominal CECT revealed a left adrenal 2.3 × 1.8 × 1.5 cm arterially enhancing nodular lesion with central hypodensity. Histologically, this was an ADA with oncocytic change and myelolipomatous differentiation/metaplasia. DISCUSSION/CONCLUSION: ADA with myelolipomatous differentiation/metaplasia can occur in the pediatric age group.

The clinical conundrum of a catecholamine secreting giant adrenal myelolipoma.

Adrenal myelolipomas are uncommon tumours of unknown aetiology. They arise from the adrenal cortex and comprise lipomatous and myeloid elements. They are considered to be functionally inert, and metabolic evaluation is not mandatory for them. Adrenal myelolipomas can rarely be functionally active, and patients may present with hypertension, electrolyte imbalance or features of Cushing's syndrome. The association of these tumours with catecholamine secretion is exceptionally rare. We describe a case of a functional adrenal myelolipoma associated with catecholamine secretion in a 55-year-old female patient with a history of hypertension. The surgical excision of the mass resulted in normalisation of the urinary catecholamine levels and resolution of the hypertension.

Removal of a Tracheal Myelolipoma in a Cockatiel (Nymphicus hollandicus) by Surgical Resection and Anastomosis.

A 17-year-old, female cockatiel (Nymphicus hollandicus) was presented for a 1-week history of respiratory distress. The clinical signs were consistent with tracheal obstruction; therefore, an air sac cannula was placed to reduce respiratory compromise. Radiographic images of the patient revealed a round, intraluminal, soft tissue opacity in the trachea. The obstruction could be visualized via transtracheal illumination, but tracheoscopy was not feasible because of the size of the patient. Attempts to manually extirpate the obstruction were unsuccessful, and the trachea subsequently avulsed in the midcervical region. Tracheal resection and anastomosis was performed, and the obstruction was removed with the associated tracheal ring. The patient recovered uneventfully and was doing well at follow-up evaluations at 9 days, 24 days, and 10 months after the surgical procedure. The histologic diagnosis was ossifying myelolipoma arising from bone marrow within the tracheal ring.

Giant Retroperitoneal Myelolipoma: An Unusual Diagnostic GI Challenge-Case Report and Review of the Literature.

INTRODUCTION: Myelolipomas are rare, benign neoplasms usually arising from the retroperitoneum. They represent an unusual diagnostic challenge due to their vague GI symptoms. We present a case of an 81-year-old patient complaining of severe dyspepsia. An abdominal CT scan and a fine needle biopsy lead to a diagnosis of giant retroperitoneal myelolipoma. A complete surgical resection was performed; no evidence of recurrent tumor was noted after 10 months. AREAS COVERED: Giant myelolipomas are very rare lesions. Clinical diagnosis of myelolipomas can be problematic due to their indefinite symptoms. CT scan and fine needle biopsy can be useful to reach a diagnosis, although they cannot be used to exclude malignancy in giant lesions. Surgery is the principal treatment if the tumor is symptomatic or > 7 cm. Follow-up is not mandatory due to the lack of any example of recurrence described in literature. EXPERT COMMENTARY: Despite the size of the neoplasms, since most of the complaints are vague, patients with this diagnosis should be considered among patients with unexplained gastrointestinal symptoms. Since malignancy cannot be excluded based on preoperative and intraoperative biopsy, an aggressive surgical approach is essential.

A new compound heterozygous mutation in a female with 17α-hydroxylase/17,20-lyase deficiency, slipped capital femoral epiphysis, and adrenal myelolipoma.

17α-Hydroxylase/17,20-lyase deficiency (17-OHD) is a rare disease caused by mutations of the CYP17A1 gene. Slipped capital femoral epiphysis (SCFE) rarely occurs in adults. There are occasional reports of adrenal myelolipoma (AML) in 17-OHD. A 27-year-old Chinese female (46, XX) visited the hospital for SCFE and presented with continuous hypokalemia, absent spontaneous puberty, and hypertension. Hypergonadotropic hypogonadism was detected. The laboratory tests were consistent with 17-OHD. AML was considered based on the imaging examinations. A mutation analysis of the CYP17A1 gene identified the following compound heterozygous mutation: a frame-shift mutation, i.e. c.985_987delTACinsAA (p.Tyr329fs), that had been reported to be a common mutation in the Chinese population was found in exon 6. Another new nonsense mutation, i.e. c.1270C > T (p.Gln424*), that causes a premature termination codon was found in exon 8. Treatment with prednisone had poor efficacy. The administration of 0.75 mg dexamethasone and estradiol/dydrogesterone cyclic treatment significantly improved the patient's symptoms. For the first time, we report a 17-OHD case accompanied by SCFE, AML, and a novel mutation site in the CYP17A1 gene. We provide insight into the clinical manifestations, genetic analysis, and treatment options of 17-OHD.

Bronchoscopic management of solitary bronchial myelolipoma: a case report.

BACKGROUND: Myelolipoma is a rare benign tumor composed of mature adipose and hematopoietic tissues. Most myelolipomas are found in the adrenal glands, whereas intrathoracic myelolipoma is extremely rare. In particular, bronchial myelolipoma without the involvement of lung parenchyma has never been reported. CASE PRESENTATION: A previously healthy 38-year-old male developed dyspnea and a productive cough. Computed tomography revealed an endobronchial mass at the right bronchus intermedius and subsequent atelectasis of the right middle and lower lobes. Flexible bronchoscopy found a total obstruction of the right bronchus intermedius due to an endobronchial tumor. Using a rigid bronchoscope, the endobronchial tumor was resected and the base of the tumor was additionally ablated with a diode laser to prevent recurrence. The removed endobronchial tumor was a 13 mm × 20 mm-sized oval-shaped mass and was pathologically diagnosed as bronchial myelolipoma. Chest radiographs, obtained on the day following the procedure, showed an improvement of atelectasis, and accompanying symptoms were immediately improved. Follow-up bronchoscopy performed after 12 months evidenced no recurrence of the bronchial myelolipoma. CONCLUSIONS: We used bronchoscopic intervention in patients with solitary bronchial myelolipoma and there was no evidence of recurrence.

BILATERAL ADRENAL AND TESTICULAR MASS IN A PATIENT WITH CONGENITAL ADRENAL HYPERPLASIA.

INTRODUCTION: Congenital adrenal hyperplasia (CAH) autosomal recessive disorders characterized by impaired adrenal steroid hormone synthesis. The most common form is 21-hydroxylase deficiency (21OHD). Testicular adrenal rest tumors (TARTs) are benign intratesticular masses that occur in male patients with CAH. TARTs are quite common in patients with 21OHD who were diagnosed late. CASE REPORT: A 41-year-old male patient with CAH secondary to 21OHD. The patient was referred to our endocrinology department from the andrology clinic for bilateral adrenal masses. Bilateral orchiectomy had been performed due to bilateral testicular masses and azoospermia two years ago. The pathology was reported as Leydig cell tumor. In hormonal assessment, baseline cortisol levels were low, 17-hydroxyprogesterone levels with baseline and after cosyntropin stimulation test were high. As a result of clinic and laboratory assessment, the patient was diagnosed with simple virilising CAH due to 21OHD and adrenal insufficiency. Then, prednisolone replacement was initiated. Bilateral orchiectomy tissue blocks of the patient were re-assessed and were considered TART. Magnetic resonance imaging revealed bilateral adrenal masses with 88x55 mm on the right and 41x22 mm on the left. Laparoscopic right adrenalectomy was applied and pathology was reported as myelolipoma. Follow-up of the mass on the left adrenal gland is ongoing. The patient is monitored under prednisolone and testosterone replacement therapy. Early diagnosis of CAH is very important because of the complications it causes. It should be considered especially for bilateral testicular and/or adrenal masses. Both fertility and adrenal glands can be protected with an early diagnosis and an early glucocorticoid replacement.

[Benign mesenchymal tumors of the abdomen]. / Benigne mesenchymale Tumoren des Abdomens.

BACKGROUND: Benign mesenchymal tumors of the abdomen are-except for hemangiomas-rare neoplasms that are associated with potentially life-threatening complications. Thus, awareness of the most important entities and knowledge of their imaging characteristics is fundamental for the radiologist. OBJECTIVES: An overview of the most frequent benign abdominal soft tissue tumors and their common imaging features is given. Furthermore, other facts concerning the individual entities that are relevant to radiologic practice are outlined. MATERIALS AND METHODS: A literature search and evaluation of the institutional image database were performed. RESULTS: Hemangiomas, desmoid tumors, lipomas and lipoma variants are presented. Typical characteristics and radiological signs (e. g., iris diaphragm sign, band sign, India ink artifact) are elucidated and illustrated by image examples. CONCLUSION: Despite the lack of distinctive imaging features, there are a few radiological characteristics suggestive for each of the entities that in many cases allow for correct diagnosis. In cases of doubt, biopsy or surgery is necessary to distinguish them from malignancies.

Review of primary extra-adrenal myelolipoma of the thorax.

Extra-adrenal myelolipoma happens in adrenal glands, and the thoracic location is extremely unusual. This is the first study involving 36 of patients with thoracic myelolipoma of English literature by investigating the clinical data, pathologic findings, radiological manifestation, and treatment strategy of all patients. Imageologic diagnosis including computed tomography, magnetic resonance imaging, and positron emission tomography/computed tomography scans is useful to identify the feature of extra-adrenal myelolipoma. Pathologic analysis is an effective method to clarify the diagnosis. In view of the potential progressive enlargement of the lesion, most myelolipomas are removed by surgery, and this operation has frequently been accomplished by using video-assisted thoracic surgery.

Hepatic lipomas and myelolipomas in subsistence-harvested bowhead whales Balaena mysticetus, Alaska (USA): a case review 1980-2016.

We describe a case series of benign hepatic fatty tumors in 10 subsistence-harvested bowhead whales. Microscopic features included lipomatous and myelolipomatous masses. Extensive atrophy and/or destruction of hepatic parenchyma was not observed. No other significant disease was present except in an animal with unrelated chronic pleuritis. Based on our longitudinal case series (1980-2016) which identified 1-2 hepatic lipomas and myelolipomas in landed whales annually at Barrow, Alaska (USA), since 2012, hepatic lipomas and myelolipomas are occasionally seen in hunter-harvested bowhead whales. A conservative estimate for the percentage of bowhead whales with hepatic fatty tumors in landed whales in Barrow from 2012 to 2016 was 6% (7/111). The pathogenesis and exact cell origin of these benign fatty tumors in bowhead whales is undetermined. Assessment of further cases is warranted to better define the tissue distribution and pathogenesis of these tumors in bowhead whale liver.

Intra-abdominal bleeding with hemorrhagic shock: a case of adrenal myelolipoma and review of literature.

Background: Adrenal myelolipoma is an uncommon, benign, and hormonally non-functioning tumor that is composed of mature adipose tissue and normal hematopoietic tissue. Most cases to date are asymptomatic or have epigastric pain. Acute hemorrhage is the most dramatic manifestation of adrenal myelolipoma; though, it is a rare entity. Hemorrhagic shock due to adrenal myelolipoma, to our knowledge, was much less mentioned so far. Persistent bleeding and uncontrollable hypotension are considered to be absolute indications for immediate surgical operation. Case presentation: Herein we presented a 32-year-old male patient with initial symptoms of nausea, vomiting, and epigastric pain progressing to altered consciousness and hypotension during ER course. Hemorrhagic shock due to a giant adrenal myelolipoma, R't was diagnosed. Emergent exploratory laparotomy was executed, and en bloc excision of tumor was done. Conclusion: Adrenal myelolipoma might be diagnosed as a adjunction to other main causes of illness; furthermore, adrenal myelolipoma could be asymptomatic in lifetime. In our case, however, manifesting as hemorrhage shock was challenging to diagnose step by step; instead, maintaining vital organs perfusion and identifying bleeding sources were to be done. Management of myelolipoma should be done on a case-to-case basis.

[Hepatic myelolipoma: A rare entity, case report and review of the literature]. / Myélolipome hépatique : une entité rare, à propos d'un cas et revue de la littérature.

Hepatic myelolipoma is a rare entity with only 17 cases described in the literature. A 73mm right liver mass was fortuitously discovered in a 55-year-old man. The biopsy showed normal hepatic tissue adjacent to a normal medular like hematopoïetic tissue, showing trilieage hematopoieses, including myeloid cells, erythroid cells and megakaryocytic cells. The diagnosis of hepatic myelolipoma was proposed. This benign tumor was initially described in adrenal gland, which is the most common topography. No malignancy or bleeding complication has been described in its hepatical location. The diagnosis is histological due to non-specific radiological presentation; it allows to avoid a surgical treatment in relation to its excellent prognosis. The etiology is not well established; but some hypotheses are discussed: adrenal or medullar heterotopia, bone marrow embolism, myeloïd metaplasia.

[Tumor of posterior mediastinum - rare case of extramedullar myelolipoma]. / Tumor a hátulsó gátorban ­ az extramedullaris myelolipoma ritka esete.

CASE REPORT: A 71-year-old male with acute exacerbation of chronic bronchitis was treated in summer of 2015. The CT scan has revealed a mass on the right side of 11th thoracic vertebra in the adipose tissue with a sharp edge towards the lung and containing a small amount of contrast agent. The radiologist recommended histological sampling of the mass. The tumor was removed by Video-Assisted Thoracic Surgery (VATS) in August of 2015. The patient was discharged on the fifth postoperative day without complication. Myelolipoma was diagnosed by histological examination. Recurrence was not detected during the one-year-follow-up period. DISCUSSION: Myelolipoma is a benign tumor consisting of mature lobulated adipose tissue and hemopoetic bone marrow. It arises mainly from the adrenal gland. Surgical resection is recommended due to the potential of progressive enlargement. Although the extraadrenal myelolipoma is an uncommon entity, in case of mediastinal, encapsulated, slow-growing tumor, myelolipoma should be considered as a differential diagnosis.

A CASE OF ADRENAL MYELOLIPOMA A PATIENT WITH BREAST CANCER.

BACKGROUND: Adrenal myelolipoma is a rare benign tumor composed of adipose tissue and hematopoetic elements resembling bone marrow. The majority of myelolipoma do not produce adrenal hormones and are only found as a result of evaluation for another disorder. With the widespread use of non-invasive abdominal imaging for various reason, its incidental detection has become more common. There are a few cases of breast cancer with concomitant adrenal myelolipoma in the literature. CASE: A 43-year-old woman presented to endocrine clinic due to presurgical assessment of adrenal mass prior breast cancer surgery. Abdominal CT showed a 9 x 8 cm sized, lobulated contour heterogeneous fatty density mass with peripheral calcification in right adrenal gland. Hormonal studies for adrenal incidentaloma revealed: Aldosterone/Renin ratio, 0.70 ([normal range < 30]; normal DHEA-S, 85.0 µg/dL ([normal range, 80 -560 µg/dL]), ACTH 25 pg/mL ([normal range, 10 - 60 pg/mL]), morning serum cortisol 8.9 µg/dL ([normal range, 5 - 12 µg/dL]). In 24-hour urine, there revealed free cortisol 21.6 µg/day ([normal range, 10 - 50 µg/day); metanephrine 0.19 mg/day ([normal range < 0.8 mg/day]); 17-ketosteroid 14.06 mg/day ([normal range, 7 - 20 mg/day]). The hormonal results of adrenal mass revealed as nonfunctioning. The adrenal mass was surgically resected in order to rule out malignancy. Pathology report showed myelolipoma. CONCLUSION: We reported a case of adrenal myelolipoma coexisting with breast cancer where the diagnosis was made incidentally based on radiological features, treated with surgical resection.