Giant Bilateral Adrenal Myelolipomas in a Non-Compliant Patient with Congenital Adrenal Hyperplasia.

BACKGROUND 21-hydroxylase deficiency, an essential enzyme for glucocorticoid and mineralocorticoid synthesis, is the cause of congenital adrenal hyperplasia (CAH) in more than 95% of cases. It is an autosomal recessive disorder encoded by the CYP21A2 gene, categorized into classical forms, which encompass the salt-wasting (SW) and simple virilizing (SV) forms, as well as the nonclassical form (NC). The aim of medical treatment is to replace missing glucocorticoids and, if necessary, mineralocorticoids, while also reducing elevated adrenal androgens. CASE REPORT We present the case of a 42-year-old woman with CAH who discontinued therapy during adolescence and was admitted to hospital with fatigue, nausea, and severe abdominal pain. A CT scan showed an extreme enlargement of the adrenal glands. Laboratory tests revealed elevated levels of 17-hydroxyprogesterone and other adrenal androgens, along with normal plasma metanephrine levels. Decreased morning cortisol levels suggested partial adrenal insufficiency requiring glucocorticoid replacement therapy. Due to the development of several serious complications and clinical deterioration, the multidisciplinary team recommended bilateral removal of masses measuring 300×250×200 mm on the right side and 250×200×200 mm on the left side. Histological and immunochemical examination confirmed the presence of giant myelolipomas with adrenal cortex hyperplasia. CONCLUSIONS Adrenal tumors, particularly myelolipomas, have a higher prevalence in patients with CAH. Our case report provides further evidence of the suspected link between non-compliant CAH therapy and the development of myelolipomas, along with promotion of their pronounced growth.

Dedifferentiated liposarcoma of the spermatic cord.

A man in his 60s presented to an outside hospital with persistent groin pain and a scrotal mass which was thought to be a recurrent hernia. Three months after initial presentation, the patient was found to have dedifferentiated liposarcoma (LPS) of the spermatic cord. LPS of the spermatic cord is a rare entity; however, clinicians should have LPS on the differential diagnosis especially in men with recurrent scrotal pain and mass. If unrecognised, LPS is associated with a high degree of morbidity and mortality. LPS can be subdivided into well-differentiated LPS, dedifferentiated LPS, myxoid LPS and pleomorphic LPS. In patients with advanced or metastatic LPS, chemotherapy consisting of Adriamycin, ifosfamide and mesna is used despite LPS being relatively chemoresistant. Therapies inhibiting mouse double minute 2 homologue, an oncoprotein that is a negative regulator of the tumour suppressor p53, appear to be promising in preclinical trials.

Bilateral hibernomas in the femoral regions of a dog.

A 14-year-old intact male Chihuahua dog was presented with masses located between the biceps femoris and adductor muscles in both hind limbs. Based on histopathological, immunohistochemical, and ultrastructural findings, we diagnosed these masses as bilateral hibernomas in the femoral regions. The dog had no evidence of recurrence or metastasis of the hibernomas through a 4-month postoperative follow-up. This is apparently the first report of bilateral hibernomas in the femoral regions of a dog. Key clinical message: Bilateral hibernomas should be considered as a differential diagnosis for masses occurring in the femoral regions of dogs.

Hibernomes bilatéraux dans les régions fémorales d'un chien. Un chien Chihuahua mâle intact de 14 ans a été présenté avec des masses situées entre le biceps fémoral et les muscles adducteurs des deux membres postérieurs. Sur la base des résultats histopathologiques, immunohistochimiques et ultrastructuraux, nous avons diagnostiqué ces masses comme des hibernomes bilatéraux dans les régions fémorales. Le chien n'avait aucun signe de récidive ou de métastases des hibernomes au cours d'un suivi postopératoire de 4 mois. Il s'agit apparemment du premier rapport d'hibernome bilatéral dans les régions fémorales d'un chien.Message clinique clé:Les hibernomes bilatéraux doivent être considérés comme un diagnostic différentiel pour les masses survenant dans les régions fémorales des chiens.(Traduit par Dr Serge Messier).

Anesthetic Management of a Patient with Madelung's Disease Presenting with a Giant Cervical Lipoma: A Case Report.

Madelung's disease is characterized by the presence of multiple symmetric and nonencapsulated facial, neck, and upper trunk lipomas. Depending on the location and size of lipomas, there may be concerns for difficult airway management and cardiovascular collapse. We present the anesthetic management case of a patient with cervical and mediastinal lipomas who underwent elective cervical lipoma resection.

[Well Differentiated Liposarcoma of a Lung:Report of a Case].

A 61-year-old woman was referred for further evaluation of an intracystic nodule in her left upper lung. Computed tomography( CT) showed a 15 mm nodule in a pulmonary cyst adjacent to aortic arch and mediastinum. Fluorodeoxyglucose-positron emission tomography (FDG-PET)-CT showed little uptake of FDG in the lesion. No abnormality was found in the bronchoscopy findings. On imaging findings, the possibility of pulmonary aspergilloma was considered, but the serological findings were inconsistent, and surgical resection of the lesion was performed for both diagnosis and treatment. The final pathohistological diagnosis was well differentiated liposarcoma. No adjuvant therapy was performed and the patient has been well without recurrence for 2 years after the surgery. We report a rare case of well differentiated liposarcoma of a lung mimicking pulmonary aspergilloma.

Atypical lipoma of the right piriformis muscle: a case report and review of the literature.

BACKGROUND: Piriformis muscle mass is rare, which is particular for intrapiriformis lipoma. Thus far, only 11 cases of piriformis muscle mass have been reported in the English literature. Herein, we encountered one patient with intrapiriformis lipoma who was initially misdiagnosed. CASE PRESENTATION: The patient is a 50-year-old Chinese man. He complained of osphyalgia, right buttock pain, and radiating pain from the right buttock to the back of the right leg. Both ultrasound and magnetic resonance imaging demonstrated a cyst-like mass in the right piriformis muscle. Ultrasonography-guided aspiration was performed on this patient first, but failed. He was then recommended to undergo mass resection and neurolysis of sciatic nerve. Surprisingly, final histology revealed the diagnosis of intrapiriformis lipoma. The patient exhibited significant relief of symptoms 3 days post-surgery. CONCLUSION: Diagnosis and differential diagnosis of radicular pain are potentially challenging but necessary. Atypical lipoma is prone to be misdiagnosed, especially in rare sites. It is notable for clinicians to be aware of the presence of intrapiriformis lipoma to avoid misdiagnosis and inappropriate treatment.

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.

Intraosseous myolipoma of the calcaneus.

A man in his 40s presented with an incidental finding of an osteolytic bone lesion. He sustained an ankle injury while inline skating, fracturing his lateral malleolus. Besides the fracture, radiographic imaging on the day of the injury incidentally revealed a well-defined solitary osteolytic lesion with a sclerotic rim within the right calcaneus. MRI showed an intraosseous, fat-containing lesion with focal contrast enhancement, assessed as an intraosseous lipoma with central necrosis. In the pathological analysis of a sample of the lesion an intraosseous myolipoma of the calcaneus was found-an unexpected and extraordinary finding. To prevent pathological fracturing, curettage and bone grafting were performed using autologous iliac crest bone in combination with allogenous bone chips.

Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective.

PURPOSE: To analyze the relationship between spinal cord and vertebral abnormalities from the point of view of embryology. METHODS: We analyzed the clinical and radiological data of 260 children with different types of spinal cord malformations in combination with vertebral abnormalities. RESULTS: Among 260 individuals, approximately 109 presented with open neural tube defects (ONTDs), 83 with split cord malformations (SCMs), and 83 with different types of spinal lipomas. Pathological spina bifida emerged as the most frequent vertebral anomaly, affecting 232 patients, with a higher prevalence in ONTD. Vertebral segmentation disorders, including unsegmented bars, butterfly vertebrae, and hemivertebrae, were present in 124 cases, with a higher prevalence in SCM. The third most common spinal anomaly group consisted of various forms of sacral agenesis (58 cases), notably associated with blunt conus medullaris, spinal lipomas, and sacral myelomeningocele. Segmental aplasia of the spinal cord had a typical association with segmental spinal absence (N = 17). CONCLUSION: The association between SCM and neuroenteric cyst/canal and vertebral segmentation disorders is strong. High ONTDs often coincide with pathological spina bifida posterior. Type 1 spinal lipomas and focal spinal nondisjunction also correlate with pathologic spina bifida. Segmental spinal absence or dysgenesis involves localized spinal and spinal cord aplasia, sometimes with secondary filar lipoma.

DDIT3-amplified or low-polysomic pleomorphic sarcomas without MDM2 amplification: Clinicopathological review and immunohistochemical profile of nine cases.

Several high-grade pleomorphic sarcoma cases that cannot be classified into any existing established categories have been reported. These cases were provisionally classified into undifferentiated pleomorphic sarcoma (UPS). Some dedifferentiated liposarcoma (DDLS) cases may also have been classified into the UPS category due to the absence of MDM2 amplification or an atypical lipomatous tumor/well-differentiated liposarcoma component. We retrieved and reviewed 77 high-grade pleomorphic sarcoma cases, initially diagnosed as UPS in 66 cases and DDLS in 11 cases. Fluorescence in situ hybridization (FISH) analyses of DDIT3 and MDM2 were performed for available cases. Of the cases successfully subjected to DDIT3 FISH (n = 56), nine (7 UPS and 2 DDLS) showed DDIT3 amplification but no MDM2 amplification. Two UPS cases showed both telomeric (5') and centromeric (3') amplification of DDIT3 or low polysomy of chromosome 12, whereas 5 UPS and 2 DDLS cases showed 5'-predominant DDIT3 amplification. Histopathologically, all cases showed UPS-like proliferation of atypical pleomorphic tumor cells. Immunohistochemically, only one case showed focal nuclear positivity for DDIT3, supporting the previous finding that DDIT3 expression was not correlated with DDIT3 amplification. All three cases with focal MDM2 expression involved 5'-predominant amplification, two of which showed DDLS-like histological features. The majority of cases (7/9) showed decreased expression in p53 staining, suggesting that DDIT3 amplification regulates the expression of TP53 like MDM2. From a clinicopathological perspective, we hypothesize that DDIT3-amplified sarcoma, especially with 5'-predominant amplification, can be reclassified out of the UPS category.

Superficial dedifferentiated liposarcoma: A clinicopathologic study.

INTRODUCTION: Dedifferentiation occurs in approximately 10% of atypical lipomatous tumors/well-differentiated liposarcomas (ALT/WDLPS), primarily in retroperitoneal or deep-seated tumors, conferring metastatic potential. Superficial dedifferentiated liposarcoma (sDDLPS) is rare, and its progression and natural history are poorly documented. METHODS: We performed a 15-year retrospective review of our pathology database to identify cases of DDLPS in the skin or subcutaneous tissue. Diagnosis of primary sDDLPS required evidence of non-lipogenic sarcoma in the skin or subcutis, with concurrent ALT/WDLPS and/or MDM2 amplification. RESULTS: We identified 14 cases of DDLPS involving skin or subcutis: 7 primary sDDLPS and 7 secondary lesions (3 from recurrent deep DDLPS and 4 from metastasis). Primary sDDLPS cases (4 females, 3 males; median age: 74) mainly presented as undifferentiated spindle cell or pleomorphic sarcoma. Tumor grades were grade 2 (5 cases) and grade 3 (2 cases), with three cases also showing grade 1 areas. MDM2 amplification was confirmed in 6 sDDLPSs for which FISH was successfully performed. Follow-up available for 6 sDDLPS patients showed 2 local recurrences, treated with re-excision and radiation therapy, with all disease-free at last follow-up (5-126 months). Of the 7 secondary cases, 2 had ongoing disease after multiple recurrences, 1 was disease-free, and all 4 with cutaneous metastasis died of disease (follow-up range: 24-263 months). CONCLUSION: These findings emphasize the importance of distinguishing between primary sDDLPS and secondary lesions due to their distinct prognoses. Metastasis or superficial extensions from deep DDLP correlate with a considerably worse prognosis than those originating in superficial tissues.

A case of fat-forming solitary fibrous tumor that is prone to be confused with liposarcoma.

Fat-forming solitary fibrous tumor is a rare and specific subtype of solitary fibrous tumor. In this case, a mass of 8.3 cm in diameter was found in a 59-year-old male patient's right retroperitoneum, as revealed by abdominal contrast-enhanced computed tomography (CT) images. The tumor exhibited a well-circumscribed nature and histological features characterized by a combination of hemangiopericytomatous vasculature and mature adipose tissue, comprising around 70% of the total tumor composition. Immunohistochemistry staining revealed diffuse positive expression of STAT6 and CD34 in the tumor cells. Based on these findings, the final diagnosis was determined to be a fat-forming solitary fibrous tumor located in the retroperitoneum. It is important to consider other potential differential diagnoses, including angiomyolipoma, dedifferentiated liposarcoma, spindle cell lipoma, and atypical lipomatous tumor/well-differentiated liposarcoma.

Imaging diagnosis: CT characteristics of a retrobulbar hibernoma in a dog.

A 12-year-old female spayed Beagle was referred for investigation of exophthalmos. CT revealed a well-defined, retrobulbar mass causing rostro-dorsal displacement of the left globe. The mass had a mildly heterogeneous precontrast soft tissue attenuation with mild heterogeneous enhancement following iohexol administration. The mass was surgically removed en bloc with an orbital exenteration. Histopathology confirmed the mass to be a hibernoma, a benign tumor of brown adipose tissue. Hibernomas have CT characteristics consistent with both benign and malignant adipose tumors and may be underrecognized by radiologists.

Complex lumbosacral spinal cord lipomas: A longitudinal study on outcomes from a Singapore children's hospital.

BACKGROUND: Total/near-total resection (TR/NTR) of complex lumbosacral lipomas (CSL) is reported to be associated with better long-term functional outcomes and lower symptomatic re-tethering rates. We report our institutional experience for CSL resection in affected children. METHODS: This is a single-institution, retrospective study. Inclusion criteria consist of patients with CSL with dorsal, transitional and chaotic lipomas based on Pang et al's classification. The study population is divided into 2 groups: asymptomatic patients with a normal preoperative workup referred to as 'prophylactic intent' and 'therapeutic intent' for those with pre-existing neuro-urological symptoms. Primary aims are to review factors that affect post-operative clean intermittent catheterization (CIC), functional outcomes based on Necker functional score (NFS), and re-tethering rates. RESULTS: 122 patients were included from 2000 to 2021. There were 32 dorsal lipomas (26.2 %), 74 transitional lipomas (60.7 %), and 16 chaotic lipomas (13.1 %). 82 % patients achieved TR/NTR. Favourable NFS at 1-year was 48.2 %. The re-tethering rate was 6.6 %. After multivariable analysis, post-operative CIC was associated with median age at surgery (p = 0.026), lipoma type (p = 0.029), conus height (p = 0.048) and prophylactic intent (p < 0.001). Next, extent of lipoma resection (p = 0.012) and the post-operative CSF leak (p = 0.004) were associated with re-tethering. Favourable NFS was associated with lipoma type (p = 0.047) and prophylactic intent surgery (p < 0.001). CONCLUSIONS: Our experience shows that TR/NTR for CSL is a feasible option to prevent functional deterioration and re-tethering. Efforts are needed to work on factors associated with post-operative CIC.

Intestinal "Piggybacking Lipoma", A Unique Lipoma Composed of Lipoma and Overlying Epithelial Lesions: A Case-control Study and Review of Literature.

BACKGROUND/AIM: Lipomas are rare but the most common benign mesenchymal lesions of the gastrointestinal (GI) tract, composed of mature adipose cells. The "piggybacking lipoma" is formed by lipomas with overlying polypoid epithelial lesions, such as sessile serrated lesion, tubular adenoma, or hyperplastic polyp, and the literature on these lesions is limited. In this study, we systematically investigated the clinical, endoscopic, and pathologic characteristics of these unique lipomas. PATIENTS AND METHODS: This is a single-institution retrospective study of gastrointestinal tract lipomas diagnosed from 2016-2021. Those with concurrent polypoid epithelial or mesenchymal lesions during the same endoscopic episode were included and reviewed in this study, and the lipomas were classified as "piggybacking lipoma" or "non-piggybacking lipoma" depending on whether the concurrent lesion was overlying the lipoma or was at a different location in the intestine. Demographic, clinical, and endoscopic data were obtained from electronic medical records. RESULTS: A total of 100 lipomas with concurrent epithelial or mesenchymal lesions were included in this study. Among them, 21 cases were classified as "piggybacking lipoma" and 79 were classified as "non-piggybacking lipoma". Patients with piggybacking lipomas showed a female predilection, and were more likely to be symptomatic and less likely to exhibit classic endoscopic features of lipoma. Histologically, the piggybacking polyps showed overlying sessile serrated lesions (SSL) (76.2%) and tubular adenoma (TA) (19%), whereas the non-piggybacking group had differing characteristic lesions with TA (57.5%) and SSL (6.0%). CONCLUSION: Piggybacking lipomas are rare lipomas with overlying polypoid epithelial lesions, most commonly SSL. They present different clinical, endoscopic, and pathologic features compared to non-piggybacking lipomas.

Rapidly growing intramuscular lipoma: a unique entity of benign lipomas in children.

This report presents a case of an intramuscular lipoma observed in the left back of a healthy female toddler. It was resected after 3 months of observation because of rapid enlargement, raising suspicion of malignancy. Histopathological examination confirmed a diagnosis of intramuscular lipoma without malignant and blastemal components. Intramuscular lipomas are benign neoplasms that mostly appear as a rapidly growing tumour. Several hypotheses regarding the pathogenesis of this characteristic growth pattern have been proposed, including atrophy of the surrounding muscle, reactive adipocytic neoformation and multiple contractive interactions between the lipoma and the surrounding muscle.

Elbow calcific tendinosis initially detected by ultrasonography: a case report.

INTRODUCTION: Calcific tendinosis is a common condition caused by the deposition of hydroxyapatite crystals within the tendons that can impact any tendinous insertion. In this situation, ultrasound (US) may be a viable imaging modality in addition to radiography. CASE PRESENTATION: A 56-year-old Iranian male presented with left elbow pain. US evaluation at the lump site revealed a subcutaneous lipoma. Ultrasonography showed a thickened and diffusely heterogeneously hypoechoic pronator teres tendon. These characteristics were consistent with the diagnosis of calcific tendinosis. DISCUSSION AND CONCLUSION: Radiography is the most common and practical imaging modality for calcific tendinosis diagnosis. Despite this, the real-time nature of ultrasonography makes it both diagnostic and therapeutic in this condition. Other conditions, such as lipoma, may interfere with the proper diagnosis of calcific tendinosis.