Birt-Hogg-Dubé syndrome presenting with bilateral pneumothorax, skin, kidney, liver, and brain lesions.

Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterized by benign cutaneous lesions, lung cysts, and increased risk of spontaneous pneumothorax and renal cancer. We report a case of a young Indian boy with bilateral pneumothorax as the first symptom of BHDS. Detailed history examination and investigation showed multiple facial lesions; his computerized tomography was suggestive of renal angiomyolipoma, hepatic angiomyolipoma, pulmonary cyst with pneumothorax, and small bilateral subependymal soft tissue density lesion with calcification in the brain, all of which were collectively suggestive of BHDS. Identification of the above commonly presented clinical features as a syndrome is important for even a primary care physician so as to ensure the timely management and if required referral to a higher center.

Hepatic Angiomyolipoma in Patients With Inflammatory Breast Cancer: A Case Report.

Hepatic angiomyolipoma (HAML) is a rare tumor comprising adipose tissue, smooth muscle cells, and blood vessels. On the other hand, inflammatory breast cancer (IBC) is a rare and severe form of breast cancer that progresses quickly and presents as breast inflammation. It is incredibly unusual for HAML and IBC to coexist in the same patient. In the present study, we describe a case of a 63-year-old Yemeni female patient diagnosed with locally advanced left breast cancer presented with pain at the left breast and axilla. A computed tomography (CT) scan for staging showed an incidental large hepatic mass, which was eventually discovered to be HAML. The patient underwent a modified radical mastectomy after completing her neoadjuvant treatment and later underwent parenchyma-sparing liver resection of that lesion; follow-up has continued till now. The diagnosis of HAML in the presence of IBC can pose challenges due to overlapping clinical and radiological features. Treatment decisions for patients with coexisting HAML and IBC require a multidisciplinary approach; surgical resection, embolization, targeted therapies, and systemic chemotherapy may be considered based on the extent of the disease and individual patient factors. Lastly, a brief review of the related literature was also carried out.

Hepatic angiomyolipoma masquerading as abdominal pain: A case report.

INTRODUCTION AND IMPORTANCE: Hepatic angiomyolipoma (HAML) is a rare liver tumor composed of blood vessels, smooth muscle, and fat cells. HAML occurs across a wide age range, with symptoms including abdominal discomfort, bloating, and weight loss. Diagnosis is challenging due to varied imaging appearances, but histopathological examination supplemented by immunohistochemical analysis, particularly using HMB-45, is definitive. CASE PRESENTATION: A 33-year-old man presented with a two-year history of right upper quadrant abdominal pain, occasionally relieved with analgesics but worsening over the past month and a half. Examinations revealed a soft, non-distended abdomen with a palpable liver. Laboratory tests, including viral markers and tumor markers were normal. Contrast-enhanced CT revealed a well-defined oval mass in liver segment III with heterogeneous enhancement leading to provisional diagnosis of HAML. The patient underwent a successful en bloc excision with no intraoperative or postoperative complications. CLINICAL DISCUSSION: Surgical resection is recommended for symptomatic cases or inconclusive biopsies, with stringent follow-up necessary due to the potential for recurrence and association with other malignancies. CONCLUSION: HAML may present with prolonged nonspecific abdominal symptoms. CT imaging aids in diagnosing cases with abundant fatty tissue. En bloc tumor excision proves safe and effective in treating symptomatic presentations.

Epithelioid hepatic angiomyolipoma in pregnancy: A case report.

INTRODUCTION AND IMPORTANCE: Epithelioid hepatic angiomyolipoma (HAML) is a rare benign tumor predominantly found in women. Its occurrence during pregnancy is extremely rare. Accurate diagnosis of HAML is challenging due to its radiological resemblance to other hepatic neoplasms. We present a case of epithelioid HAML in a pregnant patient, highlighting the diagnostic and management challenges encountered. CASE PRESENTATION: A 24-year-old pregnant female, in her fifth month of pregnancy, presented with right hypochondrium pain and nausea. Radiological imaging suggested the possibility of a hepatic adenoma. The patient opted to continue the pregnancy with regular monitoring of the mass as well as fetal health. After delivering a healthy baby, the patient underwent successful mass excision and cholecystectomy. Histopathology of the liver mass confirmed the diagnosis of epithelioid HAML. CLINICAL DISCUSSION: Epithelioid HAML is a rare tumor often misdiagnosed. It is more aggressive and frequently associated with tuberous sclerosis complex (TSC) compared to other subtypes. The diagnosis of HAML can be challenging due to its resemblance to Hepatocellular Carcinoma and other hepatic neoplasms on radiological imaging. Immunohistochemistry plays a crucial role in confirming the diagnosis. Surgical excision is the recommended treatment, with complete removal to minimize the risk of recurrence. CONCLUSION: This case report highlights the rarity of epithelioid HAML during pregnancy and emphasizes the importance of a multidisciplinary approach in managing hepatic neoplasms. Close monitoring is crucial, considering the potential risks to the mother and fetus. Accurate diagnosis through histopathological evaluation, immunohistochemistry and a multidisciplinary approach are essential for appropriate management.

A rare case of giant hepatic angiomyolipoma with subcapsular rupture.

Hepatic angiomyolipoma (HAML) is a rare mesenchymal neoplasm that predominantly affects middle-aged women. In this study, we present a case of a 49-year-old woman with a giant HAML accompanied by spontaneous subcapsular rupture. The patient initially experienced nausea and abdominal distention, followed by an enlargement of the upper abdominal circumference. Laboratory examination revealed decreased serum hemoglobin, while tumor biomarkers were within normal ranges. Imaging studies, such as abdominal ultrasound and contrast-enhanced computed tomography (CT), demonstrated a large upper abdominal mass with heterogeneous density and hypervascularity. The tumor appeared to have invaded the left liver, raising concerns about possible malignancy. Subsequent positron-emission tomography/CT confirmed increased fluorodeoxyglucose uptake in the mass. Laparoscopic exploration revealed a protruding, well-encapsulated tumor from the left liver, exhibiting subcapsular hemorrhage. Surgical resection of the tumor and the left liver was performed, leading to a successful outcome.

A complementary comment on primary hepatic angiosarcoma: A case report.

BACKGROUND: This article examines primary hepatic angiosarcoma (PHA) and fat-poor angiomyolipoma (AML), two uncommon vascular cancers. Clinical decisions in these situations are frequently aided by pathology reports and imaging techniques. Uncommon malignant tumors of the vascular endothelium include PHA. Another diagnosis that should not be overlooked when employing contrast-enhanced MR and contrast-enhanced computed tomography (CT) imaging techniques is fat-poor AML, one of the uncommon vascular tumors of the liver. In both conditions, biopsy is the primary means of diagnosis. CASE SUMMARY: In our article, besides the diagnosis of PHA, fat-poor AML, one of the other rare vascular tumors of the liver, is mentioned. In the case, a 50-year-old female patient with VHL Syndrome was admitted to our hospital with nonspecific lesions such as right upper quadrant pain, weight loss, and nausea. Abdominal ultrasonography (US) revealed a hypoechoic heterogeneous lesion with occasional faint contours. In computed tomography, it was observed as a hyperdense nodular lesion in segment 4. Magnetic resonance imaging (MRI) revealed that the lesion did not contain fat. In connection with the known history of VHL Syndrome, we first evaluated the possibility of AML. Thereupon, a histopathological sample was taken and the diagnosis was made as fat-poor AML with 5% fat content. CONCLUSION: In conclusion, PHA in our case report and fat-poor AML in our clinic are two uncommon liver vascular malignancies with comparable incidences. Important imaging techniques like contrast-enhanced US (CEUS), CECT, and CEMRI give us substantial advantages in both cases. However, a biopsy is used to provide the final diagnosis.

Laparoscopic Resection of a Hepatic Epithelioid Angiomyolipoma Revealed by Indocyanine Green Fluorescence Imaging.

Indocyanine green fluorescence imaging (ICG-FI)-a sensitive tool for detecting tumor localization in laparoscopic surgery-produces false positive results for benign liver tumors. This report is the first case of hepatic angiomyolipoma (HAML) treated laparoscopically with ICG-FI. We present the case of a 31-year-old woman with a liver tumor that was a 13-mm mass in the anterior superior segment. Though a benign tumor was suspected, malignant potential could not be ruled out. Therefore, minimally invasive laparoscopic resection using ICG-FI was planned. ICG, intravenously injected preoperatively, revealed the tumor's existence. Pure laparoscopic hepatectomy with ICG-FI was performed for excisional biopsy, during which the tumor was resected with adequate surgical margins, followed by histological confirmation of HAML. In conclusion, it is suggested that laparoscopic resection with ICG-FI is an effective minimal invasive surgery for tumors that are difficult to detect, such as HAML, leading to a safe surgical margin.

Transcatheter arterial embolization followed by laparoscopic anatomic hepatectomy for spontaneous rupture of a giant hepatic angiomyolipoma: a case report.

Hepatic angiomyolipoma is a rare and possibly cancerous mesenchymal tumor that consists of three components: blood vessels, smooth muscle cells, and adipose tissue. In this paper, we reported a case of a 36-year-old man who had a giant hepatic angiomyolipoma with spontaneous rupture and hemorrhage. The patient was admitted to our hospital with sudden upper abdominal pain for 3 h. A giant tumor was found in the left and caudate lobes of the liver, as well as significant blood collection around the liver and in the pelvis. Hemoglobin, liver function test results, and serum tumor maker levels were all within normal ranges. To prevent bleeding, emergency angiography and embolization were performed. During angiography, it was discovered that the tumor was supplied by the left hepatic artery and had a very rich internal blood supply. A massive left hepatic mass of about 11 cm in diameter was found bulging from the surface of the liver and rupturing there during laparoscopic exploration a week later. The rupture was strongly adhered to the smaller curvature of the stomach. The patient underwent laparoscopic left hemihepatectomy and caudate lobectomy, and the tumor specimen was brown, with clear boundaries with the surrounding normal liver parenchyma, and there were a large number of necrotic lesions inside the tumor. Histopathological results confirmed the mass as hepatic angiomyolipoma with negative resection margins. Immunohistochemical staining indicated that the tumor had positive homatropine methylbromide-45. After 13 months of follow-up, no tumor recurrence or metastasis occurred in the patient.

Hepatic Follicular Dendritic Cell Sarcoma with Epithelioid Morphology: Histopathologist's Perspective.

Follicular dendritic cell (FDC) sarcoma is an uncommon tumor of the liver with only 30 previous cases reported in the English literature. Histopathological examination is the gold standard for the diagnosis of FDC sarcoma although the diagnosis is often missed because of its rarity. It usually presents with spindle-cell morphology although epithelioid/biphasic morphology is also well-known. This morphological variation can also pose a diagnostic challenge. We discuss a case of unresectable hepatic FDC sarcoma in an adult male who was diagnosed in core biopsy. We highlight the relevant histomorphological differentials and diagnostic approaches to FDC sarcoma in this anecdote.

Fine needle aspiration of hepatic angiomyolipoma with extramedullary hematopoiesis: A case report.

Angiomyolipoma, a perivascular epithelioid cell tumour, is easily identifiable as a benign tumour in the kidneys. However, when occurring in extrarenal sites it can mimic malignancy (Cancer Cytopathol. 2017;125:257). Pathologists must be aware of the classical morphological features of this lesion, its pitfalls in extrarenal sites, and the need for immunohistochemistry in order to establish the correct diagnosis (World J Gastroenterol. 2000;6:608). We report a case of angiomyolipoma with extramedullary hematopoiesis presenting as a large hepatic mass, diagnosed by cytology through endoscopic ultrasound guided fine needle aspiration. Our case exemplifies the classic cytological findings that are important in the differentiation between hepatic angiomyolipoma (HAML) and differentials in this organ such as hepatocellular carcinoma (HCC) and focal nodular hyperplasia. A brief literature review and comparison of significant features between HAML and HCC are presented.

Laparoscopic hepatectomy for hepatic angiomyolipoma with preoperative diagnosis of other malignancy: a report of 2 cases.

BACKGROUND: Hepatic angiomyolipoma (HAML) is a rare liver tumor, and hepatectomy is the only effective treatment. Due to the difficulty of correct diagnosis of HAML before surgery by image studies, more than 36.6% of reported HAMLs are misdiagnosed as other malignant liver tumors before surgery. As there are only few reported cases in which HAMLs were removed using laparoscopic hepatectomy, the effectiveness of laparoscopic hepatectomy for such HAMLs in which are diagnosed as other malignant liver tumor before surgery has not been reported. Case presentation Case 1: a 58-year-old female with a history of treatment for autoimmune hepatitis was preoperatively diagnosed with hepatocellular carcinoma (size: 20 mm) in segment 7 (S7) of the liver. The tumor was removed by laparoscopic partial resection and was diagnosed as a HAML through a pathological examination. The patient's postoperative course was good, and she was recurrence-free at 37 months after the hepatectomy. Case 2: a 29-year-old female with a history of surgery for a right mature cystic teratoma was referred to our department to receive treatment for a growing 20-mm liver tumor with some calcification, which arose in S3 of the liver. A metastatic liver tumor derived from the mature cystic teratoma was suspected, and laparoscopic left lateral sectionectomy was performed. The liver tumor was diagnosed as a HAML after a pathological examination. The patient's postoperative course was unremarkable, and more than 54 months have passed since the hepatectomy without any recurrence. CONCLUSIONS: Two cases in which HAMLs were preoperatively diagnosed as other malignant liver tumor were successfully removed by laparoscopic hepatectomy with a correct postoperative diagnosis. Laparoscopic hepatectomy for the present 2 cases of HAML seemed to be effective for providing a correct diagnosis after the curative removement of liver tumor with a smaller invasion compared to open hepatectomy, and for denying risk of dissemination of the malignant tumor by needle biopsy that had to be considered before ruling out malignant tumor.

Huge Hepatic Angiomyolipoma Mimicking Low Grade Hepatocellular Carcinoma.

A 41-year-old man was diagnosed with a huge symptomatic liver mass and was referred to our hospital for liver biopsy and further evaluation. He presented with right upper quadrant tenderness. Enhanced abdominal computed tomography and magnetic resonance imaging revealed a 12.5-cm relatively well-defined heterogeneous enhancing mass in the right inferior liver with a large exophytic component containing a fat component and progressive delayed enhancement. The patient underwent right inferior sectionectomy. The pathological diagnosis was confirmed as angiomyolipoma, 12.3×9.2×5.0 cm in size, with tumor necrosis in 20% of the tissue. Hepatic angiomyolipoma is known as a benign tumor, but in our case, because of the large tumor size and coagulative necrosis, this tumor had malignant potential; surgical resection was deemed to be appropriate, and close follow-up monitoring was essential postoperatively.

Hepatic angiomyolipoma with predominant epithelioid component: Diagnostic clues on aspiration and core needle biopsies.

Hepatic angiomyolipoma (HAML) is a rare mesenchymal neoplasm that belongs to the perivascular epithelioid tumor family. Though it is characteristically, a triphasic tumor composed of smooth muscle, blood vessels, and adipocytes, the smooth muscle cells are often epithelioid and can represent the near-entirety of the tumor. A HAML composed predominantly of epithelioid smooth muscle cells occurring in the liver presents significant diagnostic challenges as many liver tumors are composed of large epithelioid cells. Furthermore, even if the tumor is not composed predominantly of epithelioid smooth muscle cells, this may be the only component present in a fine-needle aspiration (FNA) or core needle biopsy. A 38-year-old female with a 3 month history of abdominal pain, nausea, and diarrhea was found to have a 12 cm right hepatic lobe mass. FNA biopsy revealed a moderately cellular specimen composed of plump epithelioid cells with indistinct cell borders, low N:C ratio, round to oval nuclei, fine chromatin, occasional nucleoli, and abundant vacuolated to fibrillary cytoplasm. Rare intranuclear inclusions and occasional foamy macrophages were noted. Concurrent core biopsy revealed large polygonal cells with eccentric nuclei and clear, vacuolated to granular, eosinophilic cytoplasm that stained strongly for HMB45, confirming the diagnosis of HAML. Because HAML is a rare tumor, this diagnosis can be easily overlooked; cognizance of the typical cytologic, histologic, and immunophenotypic findings is crucial to establishing a diagnosis.

Clinical and Contrast-enhanced Ultrasound Characteristics of Epithelioid and Classic Hepatic Angiomyolipoma: Comparison With Alpha-fetoprotein-negative Hepatocellular Carcinoma.

Hepatic angiomyolipoma (HAML) comprises epithelioid angiomyolipoma (EAML) and classic hepatic angiomyolipoma (CAML). The imaging appearance of HAML varies widely, and EAML is more easily misdiagnosed as hepatocellular carcinoma (HCC) than as CAML. The clinical and contrast-enhanced ultrasound (CEUS) features of CAML, EAML and HCC with negative alpha-fetoprotein protein expression (HCC[AFP-]) were retrospectively reviewed. The hyper-vascular type was more commonly found in CAML and EAML lesions than in HCC lesions. Most lesions were hyper-enhanced in the arterial phase. CAMLs showed prolonged hyper-enhancement or iso-enhancement during the portal and late phases on CEUS, making them easily distinguishable from HCC(AFP-). Some EAML lesions (41.7%) were hypo-echoic, similar to HCC(AFP-). However, the hypo-enhancement of EAML lesions occurred later than that of HCC(AFP-) lesions. Thus, our findings may be useful in distinguishing among these lesions to improve diagnostic accuracy.

Hepatic angiomyolipoma: A case report and literature review.

INTRODUCTION: Hepatic angiomyolipoma (HAML) is a rare mesenchymal liver tumour which belongs to the family of perivascular epithelioid cell tumours (PEComas). It is typically composed of blood vessels, smooth muscle, and adipose cells, and shows strong immunoreactivity for HMB-45. PRESENTATION OF THE CASE: A 57-year-old woman was referred to our hospital with an unclear liver lesion. A fine needle biopsy revealed a suspicion of hepatic angiomyolipoma with extramedullary haematopoiesis. Preoperative imaging revealed a tumour 17 cm in diameter in the left liver lobe segments II and III. A lobectomy of the left lobe segments II and III was performed. The pathological diagnosis of hepatic angiomyolipoma was obtained. DISCUSSION: Variations in the predominance of the tissue components in HAML impedes diagnosis based on imaging alone. The most promising evidence of HAML is the histological identification of lipomatous, myomatous, and angiomatous tissue combined with immunohistochemical positivity for HMB-45. Although the tumour is considered benign, some cases have been described with malignant behaviour. Surgical resection should be considered in case of symptoms, inconclusive biopsy, or growth in follow-up. Other surgical indications may include aggressive patterns such as vascular invasion, p53 immunoreactivity, or rapidly proliferating tumour cells. CONCLUSION: HAML is a rare liver tumour. In patients with symptoms, uncertain diagnosis, or tumour growth, surgical resection should be performed according to oncological criteria.

Hepatic angiomyolipoma resected by eft hepatectomy: Case report.

El angiomiolipoma hepático es un tumor mesenquimatoso infrecuente perteneciente al grupo de los PEComas (Perivascular Epithelioid Cells), que cuenta con un potencial maligno indeterminado. Los síntomas clínicos son inespecíficos, siendo las características radiológicas principales la alta vascularización de la lesión y la presencia de tejido adiposo macroscópico. Presentamos un caso clínico de un angiomiolipoma hepático izquierdo diagnosticado por tomografía computada de manera incidental y asintomático en una paciente sin antecedentes de importancia que se sometió a hepatectomía lateral izquierda con resección completa del tumor, el cual fue negativo para malignidad y sin complicaciones.Hepatic angiomyolipoma is a mesenchymal tumor known as PEComas (Perivascular Epithelioid Cells) with unknown malignancy pattern. We present a case report of left hepatic angiomyolipoma diagnoses by computed tomography in an asymptomatic patient with no previous medical diseases. The tumor was complete resected during a left lateral hepatectomy with no complications and final histologic report was negative to cancer.

Identification of a specific ultrasonographic finding for differentiating hepatic angiomyolipoma from hepatocellular carcinoma.

OBJECTIVE: To identify specific ultrasonographic features that differentiate hepatic angiomyolipoma (HAML) from hepatocellular carcinoma (HCC). METHODS: Twelve patients with HAML and 73 patients with HCC, whose diagnosis were pathologically confirmed at a single center in Japan between 2006 and 2016, were included in this study. The HAML and HCC cases were histologically evaluated and their histological growth patterns were compared. Using ultrasonographic data, we evaluated the imaging features representing the distinct histological differences. Ultrasonographic findings, reviewed by two examiners, were compared via interobserver variability analysis. This retrospective study was approved by the institutional ethics committee at our institute (No. 2017-1004). RESULTS: The enrolled patients were carefully divided into two case sets: discovery case set (6 HAML patients and 37 HCC patients) and validation case set (6 HAML patients and 36 HCC patients). In the discovery case set, half of the HAML cases had intratumoral regions showing a reticular growth pattern. None of the HCC cases appeared as a region with the reticular growth pattern. The regions with the reticular growth pattern present as an intratumoral hyper echoic foci on ultrasound images. The presence of the intratumoral hyper echoic foci was significantly associated with HAML (P < .01). In the validation case set, the intratumoral hyper echoic foci predicted HAML at a specificity of 100% and a sensitivity of 50%. CONCLUSIONS: Intratumoral hyper echoic foci, representing reticular growth pattern, can be a promising ultrasonographic finding to help differentiate HAML from HCC.

Hepatic angiomyolipoma with early drainage veins into the hepatic and portal vein.

Hepatic angiomyolipoma (AML) is a rare stromal tumor composed of variable admixtures of thick-walled vessels, smooth muscles and adipose tissue. One of the specific radiological findings of hepatic AML is an early drainage vein noted via enhanced computed tomography (CT). We report a case of hepatic AML showing early drainage veins into both the hepatic and portal vein. The case involved a 46-year-old woman who was referred to our hospital because of a giant hepatic tumor. CT revealed well-enhanced 14 cm and 1 cm tumors in the left and right lobes, respectively. Magnetic resonance imaging demonstrated the existence of adipose tissues in the larger tumor. Hepatic arteriography revealed early drainage veins draining into both the hepatic and portal vein. Based on a diagnosis of hepatic AML, left hepatectomy and partial hepatectomy were performed. Pathology revealed both tumors as hepatic AML based on human melanoma black-45 immuno-positivity. Hepatic AML with early drainage veins into both the hepatic and portal vein is rare. The dilated and retrogressive vein drains the abundant arterial blood flow of the tumor. The finding of early drainage veins into not only the hepatic vein but also the portal vein should be helpful for diagnosing hepatic AMLs.

The differential enhancement pattern of contrast enhanced ultrasound and magnetic resonance imaging characteristics in hepatic angiomyolipoma: 7 case reports.

OBJECTIVE: To compare the enhancement pattern of hepatic angiomyolipoma (HAML) on contrast enhanced ultrasound (CEUS) and magnetic resonance (MR). METHODS: The data of seven patients (females; age 28-52 years; mean, 42 years) with histologically proven HAMLs were retrospectively reviewed. All patients underwent CEUS and MR examination. The images were analyzed by two experienced doctors who blinded to the clinical and pathological information of cases. RESULTS: The mean diameter of the nodule was 5.7 cm (range: 3.2-10 cm). Histopathologic results revealed 4 nodules to be myomatous type and 3 nodules to be mixed type. All nodules showed hyperenhanced during arterial phase on both CEUS and MRI. During portal and delayed phase, washout was more showed on MRI (5/7, 71.4%) than on CEUS (2/7, 28.6%). CONCLUSIONS: There is discrepancy of enhancement pattern between CEUS and MRI. The quick wash-in and sustained hyperenhancement on CEUS may be helpful for the diagnosis of HAML.