Mesenchymal Hamartoma Research Articles

Pediatric Mesenchymal Hamartomas of the Liver can Show Both Foregut and Hindgut Phenotype.

Cystic epithelium in mesenchymal hamartoma (MH) is typically biliary type. Mucinous differentiation of the epithelium and increased hepatocellular component may pose a diagnostic challenge. We studied MH in 7 children (6 M, 1 F; age 4 months to 8 years, median 1 year). Resected tumors varied from 3.0 to 17.0 cm. All tumors showed biliary epithelium in the cystic component with strong and diffuse reactivity for CK7 and CK19. Expression of CK20 and CDX2 was additionally seen in 2 tumors, rare/focal in 1, and diffuse with mucinous differentiation in the other. Strong and continuous nuclear reactivity for Sox9 was seen in the cyst epithelium in all 7 tumors including focal staining in mucinous areas. It was also positive in the hepatocellular component. CD56 and vimentin were variably positive in the cystic epithelium of all cases. Alpha-fetoprotein showed patchy weak staining in the hepatocellular component and was negative in the cystic epithelium. Hepar-1 showed focal staining in the cystic epithelium in 4/7 cases and diffuse in the hepatocellular component. Both patients showing CK20 and CDX2 expression had abnormal chromosomal analysis: one with balanced translocation between chromosomes 2 and 19 and other with loss of chromosome Y. Among others, one showed 46,XY,inv(9)(p11q12), one did not grow cells, and the remaining 3 had normal karyotype. Six patients underwent resection and one had liver transplantation. All were alive and well with a median follow-up of 1.5 years. In conclusion, mucinous epithelium can be seen in MH. Expression of Sox9 in the cyst epithelium and hepatocytes suggests a common origin for these components. Expression of vimentin indicates an overlapping epithelial-mesenchymal phenotype. Hepatic MH can show divergent epithelial differentiation including both foregut and hindgut phenotype, which may provide insights into the pathogenesis of this rare neoplasm but does not seem to affect the outcome in this limited series.

Giant mesenchymal hamartoma in pediatric patients: A new indication for liver transplantation

Abstract Mesenchymal hamartoma is the second most frequent benign liver tumor in young children and usually occurs in the first two years of life. Currently, the gold standard for treatment is a complete surgical resection. We report a 17-month old patient with a giant mesenchymal hamartoma who, due to the impossibility of resection and the risk of malignant transformation, received liver transplantation from a living donor with a satisfactory outcome in the first year post-transplant. In this report, we show that liver transplantation is a viable therapeutic alternative for this pathology, in patients who have no possibility of receiving another type of treatment due to their clinical characteristics.

Hepatoblastoma with solid and multicystic aspect mimicking a mesenchymal hamartoma: imaging and anatomopathologic findings

Hepatoblastoma with solid and multicystic aspect mimicking a mesenchymal hamartoma: imaging and anatomopathologic findings

Mesenchymal cystic hamartoma of the lung associated with diffuse alveolar damage

Introduction: Mesenchymal cystic hamartoma (MCH) of the lung is a clinicopathological and a rare entity with typical pathological features. Mesenchymal cystic hamartoma is characterized by cystic pulmonary lesions that tend to increase in size slowly. The pulmonary hamartomas usually are asymptomatic more especially when they are small in size. The treatment is conservative in asymptomatic patients. The ultimate treatment is surgical for the large and symptomatic lung mesenchymal hamartomas. Case Report: A six-month-old male neonate was referred from a regional hospital with a history of progressive shortness of breath and fever. The chest X-ray was performed and it showed a thin walled left lung cystic mass with mediastinal deviation to the right side. Computed tomography scan followed the chest X-ray and it confirmed large and smaller cysts with thin walls. Biopsy was performed and it confirmed the diagnosis of mesenchymal cystic hamartoma of the lung. Thoracotomy and the excision of the left lung cysts were done and later the neonate was discharged from the hospital without complications. Conclusion: It is of utmost importance to consider a cystic mesenchymal lung hamartoma in our differential diagnosis when dealing with cystic lung masses in children.

Spectrum of hepatobiliary cystic lesions: A 7-year experience at a tertiary care referral center in North India and review of literature.

Cysts arising from the hepatobiliary tree are a group of heterogeneous lesions with regard to pathogenesis, clinical presentation, and radiological finding. They can be intrahepatic or extrahepatic, developmental, secondary to infective/inflammatory etiologies, as well as neoplastic. This study was conducted to determine the spectrum of hepatobiliary cysts in surgically intervened cases, with regard to their prevalence, histological spectrum, and clinicoradiological correlation, wherever possible. In this retrospective observational study, hematoxylin and eosin stained slides of all cases of hepatobiliary cystic lesions, operated between 2009 and 2016 were reviewed. Special stains as reticulin, Masson's trichrome, and periodic acid Schiff were done wherever necessary. Overall prevalence, age-sex distribution, clinical presentation and histopathological patterns were studied. Relevant imaging findings were correlated wherever possible. A total of 312 cases of hepatobiliary cysts were identified, the majority in females. Choledochal cysts (CCs) were the most common type (n = 198,63.5%), followed by hydatid cysts (n = 73,23.3%), simple hepatic cysts (n = 10,3.2%), congenital hepatic fibrosis (n = 10,3.2%), biliary cystadenomas (n = 4,1.2%) hepatic mesenchymal hamartomas (n = 7,2.2%), and cavernous hemangiomas (n = 3,0.9%). Fibropolycystic liver disease (n = 2,0.6%), Caroli's disease (n = 1, 0.3%), liver abscess (n = 2, 0.6%), infantile hemangioendothelioma (n = 1,0.3%), and biliary cystadenocarcinomas (n = 1,0.3%) were rare. Lesions noted mostly in 1st decade of life were: CCs, fibrocystic liver disease, Caroli's syndrome, cystic mesenchymal hamartoma, and infantile hemangioendotheliomas. In our cohort of surgically intervened cases of hepatobiliary cystic lesions from a tertiary care hospital in North India, the CCs, followed by hydatid cyst were the most common lesions. Histology can play vital role in characterization, as often clinical findings and radiology can overlap.

Mesenchymal hepatic hamartoma associated with elevated alpha fetoprotein mimicking a hepatoblastoma: A rare case and a literature review

Introduction: A mesenchymal hepatic hamartoma is a heterogeneous and a rare congenital benign neoplasm whose presentation may be cystic, solid or mixed and the mass may demonstrate varying degrees of vascularity. Treating mesenchymal hepatic hamartomas conservatively is not encouraged because these lesions have the potential to grow rapidly and may degenerate to a malignant undifferentiated embryonal sarcoma. The standard treatment of mesenchymal hepatic hamartoma is surgical resection. However, marsupialization is also indicated in surgically unresectable cases. Case Report: We report a case of one-year-old girl who presented with a one-month history of abdominal distention. The patient was born through a normal vaginal delivery at term. Apgar score 9/10-10/10, birth weight 2.8 kg. Head circumference 36 cm. The patient is retro-viral disease negative. She has normal developmental milestones and the immunizations are up to date. Ultrasound of the abdomen was performed and it showed right liver lobe large masses. Computed tomography (CT) scan was subsequently performed to further characterize the liver lesions. Ultrasound guided biopsy was performed and it confirmed the diagnosis of mesenchymal hepatic hamartoma. The alpha-fetoprotein was markedly elevated. Conclusion: It is of utmost importance to note that as much as the mesenchymal hepatic hamartoma typically shows a normal alpha-fetoprotein, a rare presentation of this benign tumor may be associated with markedly elevated alpha fetoprotein.

Multifocal Chest Wall Hamartoma: A Rare Congenital Anomaly

Chest wall hamartoma is a very rare tumour with benign course and distinct clinical, radiological, and histopathological characteristics. The lesion develops during foetal life and is present at or shortly after birth. It should be kept in differential diagnosis of complex chest wall masses diagnosed during antenatal ultrasound. CT thorax is useful for appreciation of detailed anatomy, characterization of the congenital abnormality and for surgical planning. Histopathology is used for the confirmation. Accurate diagnosis of mesenchymal hamartoma is important since many chest wall masses in children are malignant. We report a rare case of multifocal chest wall hamartoma in an infant who presented with multiple bilateral complex chest wall masses in which characteristic radiological and histopathological features led to the diagnosis of hamartoma, which was successfully treated with surgery.

3D simulation assisted resection of giant hepatic mesenchymal hamartoma in children

Objective: To evaluate the usefulness of Hisense Computer Assisted Surgery System (Hisense CAS) in pre-operative surgical planning and intra-operative navigation for resection of pediatric giant hepatic mesenchymal hamartoma (HMH).Methods: Five children with HMH underwent hepatectomy in our hospital. Pre-operative abdominal enhanced CT was performed for diagnosis and treatment planning. Using CT DICOM files, three-dimensional reconstruction was performed in three cases for operation planning and intra-operative navigation, with SID carrying out precise liver resection during the operation with Hisense CAS.Result: Two patients underwent right and left lobe hepatectomy, respectively, based only on enhanced CT. In 3 patients, by using the Hisense CAS system, three-dimensional reconstruction of the liver and tumors was successfully completed, and virtual hepatectomy performed successfully according to surgical plans. Hisense CAS could clearly and directly indicate the HMH location and shape, as well as its relationship with the intra-hepatic Glisson system, assisting safe hepatectomy. All five patients recovered well from surgery without any complications, and pathological examinations confirmed that all cases were HMH. No recurrence was observed during the follow-up period of 3 months to 5 years.Conclusion: Hisense CAS system is useful for preoperative planning and intra-operative navigation, assisting safer hepatectomy.

Atypical Presentation of Mesenchymal Hamartoma of the Chest Wall in a One-Month-Old Infant

Atypical Presentation of Mesenchymal Hamartoma of the Chest Wall in a One-Month-Old Infant

MRI of paediatric liver tumours: How we review and report.

Liver tumours are fortunately rare in children. Benign tumours such as haemangiomas and cystic mesenchymal hamartomas are typically seen in infancy, often before 6 months of age. After that age, malignant hepatic tumours increase in frequency. The differentiation of a malignant from benign lesion on imaging can often negate the need for biopsy. Ultrasound is currently the main screening tool for suspected liver pathology, and is ideally suited for evaluation of hepatic lesions in children due to their generally small size. With increasing research, public awareness and parental anxiety regarding radiation dosage from CT imaging, MRI is now unquestionably the modality of choice for further characterisation of hepatic mass lesions.Nevertheless the cost, length of imaging time and perceived complexity of a paediatric liver MR study can be intimidating to the general radiologist and referring clinician. This article outlines standard MR sequences utilised, reasons for their utilisation, types of mixed hepatocyte specific/extracellular contrast agents employed and imaging features that aid the interpretation of paediatric liver lesions. The two commonest paediatric liver malignancies, namely hepatoblastoma and hepatocellular carcinoma are described. Differentiation of primary hepatic malignancies with metastatic disease and mimickers of malignancy such as focal nodular hyperplasia (FNH) and hepatic adenomas are also featured in this review..Imaging should aim to clarify the presence of a lesion, the likelihood of malignancy and potential for complete surgical resection. Reviewing and reporting the studies should address these issues in a systematic fashion whilst also commenting upon background liver parenchymal appearances. Clinical information and adequate patient preparation prior to MR imaging studies help enhance the diagnostic yield.

Prolonged Air Leakage Caused by Mesenchymal Cystic Hamartoma of the Lung

A 16-year-old girl was transferred to the department of thoracic and cardiovascular surgery because of a spontaneous pneumothorax with prolonged air leakage. Chest computed tomography demonstrated a cystic lesion measuring 2×3 cm and involving the left upper lobe. Left upper lobectomy was performed via video-assisted thoracoscopic surgery. A pathologic examination of the specimen revealed a mesenchymal cystic hamartoma. Despite the rarity of pulmonary mesenchymal cystic hamartoma, it should be considered a potential cause of pneumothorax for patients with a large pulmonary cyst. Further, surgical resection must be considered because serious complications such as hemothorax, hemoptysis, and malignant transformation have been reported.

Total Excision of Congenital Mesenchymal Hamartoma of the Chest Wall in Newborn

Mesenchymal hamartomas of the thoracic wall are benign lesions presented in neonatal period. May cause respiratory distress but are non life treating. Total excision is a challenging operation and must be performed after the radiographic studies are complete by CT scan. Is reported a case of enormous lesion presented at birth and treated by total excision. Scoliosis of the thoracic vertebral column is presented on the follow up and treated with appropriate bandage. Paradoxical respiration is a transitory sign that disappears by the time.

Thoracoschisis secondary to a mesenchymal hamartoma associated with diaphragmatic eventration

Abstract Thoracoschisis is an extremely rare congenital anomaly associated with limb body wall defect and diaphragmatic hernia. We describe a case of a female infant who was noted at birth to have tissue coming through a left sided thoracic defect next to an accessory nipple. The stomach bubble was displaced superiorly on radiographs. At surgery the tissue was attached to the left lateral lobe of the liver and was protruding through the chest wall via an intercostal defect below an eventrated diaphragm. The tissue was resected and the defect closed. Pathological examination was consistent with a mesenchymal hamartoma. The diaphragm may have formed abnormally in this case due to the presence of the mesenchymal hamartoma in this location.

Mesenchymal Hamartoma of Liver in a Neonate

Introduction: Mesenchymal hamartoma of liver (MHL) is the second most common benign liver tumor in children. This tumor typically presents as a large benign cystic mass, solid or mix in children less than three years. Prenatally, it may grow quickly to an abnormal size that may lead to death or hydrops. Prenatal suspicion arises by increasing maternal serum α-FP or HCG and polyhydroamnious and can usually identify the case in the last trimester of pregnancy by ultrasound. Case presentation: The patient was a sick 19 day old baby boy. The patient was admitted to the hospital due to the poor feeding, restlessness and nausea. On physical examination, a mass was found on the left side of the abdomen. In the MRI of the abdomen, the heterogeneous multi-lobulated mass was reported in the upper quadrant of the abdomen. Incision and drainage was done and purulent material was drained from a large abscess located in the left lobe of the liver. Finally, the pathology report showed that the infected mesengymal hamartoma of the liver. Conclusion: In neonatal period MHL can lead to emergency surgery due to fluid or puss accumulation in the cysts. Complete surgical removal is the preferred treatment and histopathological diagnosis helps.

Mesenchymal hamartoma of the larynx: A rare case report and review of literature

Conclusion: We are reporting an extremely rare case of primary adenocarcinoma arising probably from the left seminal vesicle associated with ipsilateral renal agenesis. The lesion was detected on ultrasound and contrast enhanced CT and confirmed histologically with ultrasound guided biopsy. Serum markers i.e., CA19-9 and CA125 were elevated, while PSA and CEA were within normal limits. Such a constellation of markers strengthened the diagnosis. Our patient unfortunately presented very late in the course of the disease, we decided to initiate anti-androgen therapy and best supportive care in a hospice setting. Only early detection seems to be the key factor which may result in improved cure rates for cancer of the seminal vesicles. We also perform a literature search for current concepts related to the diagnosis and clinical management of primary adenocarcinoma of seminal vesicles.

History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis

We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis. Despite the benign nature of IHHs, some of these lesions may demand medical and/or surgical intervention, especially for multiple and diffuse IHH. Complications can include hepatomegaly, hypothyroidism and cardiac failure. Therefore, a close follow-up is required until complete involution of the lesions. We propose an algorithm to guide the physicians towards the proper management of hepatic lesions.

Mesenchymal Hamartoma of the Liver in Older Children

Mesenchymal hamartoma of the liver (MHL) is an uncommon benign hepatic tumor typically affecting children under 2 years of age. Only 5% of MHL occur after 5 years and are very rarely observed in adults. According to age, MHL may differ in their morphologic features. We report a case of an 11-year-old boy with MHL, resembling a malignant lesion from a clinical point of view, characterized by unusual histologic features: a prominent myxoid stroma, with a minimal ductular component, and absent cystic spaces. The present case and others reported in older children or adults demonstrate that these lesions may represent a potential diagnostic pitfall when occurring outside their classic clinical context especially because of their peculiar histologic findings. Moreover, it may be hypothesized that variation in morphology might be related to different evolutive stages of the cell of origin. To support this hypothesis, we therefore studied the presence of components of the Notch pathway inside and outside the lesion. Their absence inside the tumor and, in contrast, the expression of Notch2 and HES1 evident in overrepresented bile ducts present at the periphery might explain not only the lack of bile ducts, but also indicate a more adult phenotype compared with classic pediatric MHL, which show more bile ducts and liver trabeculae embedded in the mesenchymal matrix.

Benign liver tumors in children: outcomes after resection.

Benign liver tumors in children are rare and data regarding the surgical outcomes are deficient. We reviewed our experience in the management of these tumors particularly the extent, safety, and effectiveness of surgical resection. Between March 2005 and March 2014, 10/90 liver resections were performed for benign liver tumors. Three other patients received conservative treatment. Demographic characteristics, operative management, morbidity, and mortality were analyzed. The median age of the patients was 12 months. The distribution of pathology was infantile hepatic hemangioendothelioma/hemangioma (n = 7), mesenchymal hamartoma (n = 4), adenoma (n = 1) and focal nodular hyperplasia (n = 1). Median tumor size was 12.25 cm (range 3.5-21 cm) with a median tumor volume of 576.64 cm(3) (range 13.9-1822.64 cm(3)). Non-anatomic resection was performed in 6/10 patients and the median blood loss was 100 ml (range 10-850 ml). Median length of hospital stay was 7 days (range 5-9 days). There were no mortality, none of the patients had a local recurrence, and all are alive at a median follow-up of 33 months. Two-third patients with benign liver tumors were managed with surgical excision, which comprised 11% of our resectional practice. Non-anatomical resection whenever feasible can be performed safely and does not compromise the oncological outcomes.

Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1

Abstract Pleuropulmonary blastoma (PPB) is a childhood mesenchymal pleural-based tumor that is associated with a germline mutation in DICER1 gene in familial PPB. It occurs most commonly in children between the ages of 2 and 5. Approximately 25% of patients have familial cancer syndrome which can include different combinations of PPB, lung cysts, thyroid tumors, cystic nephroma, Wilms tumor, embryonal rhabdomyosarcoma, ovarian Sertoli-Leydig cell tumors, juvenile granulosa cell tumor, gynandroblastoma, medulloblastoma, other childhood central nervous system tumors, nasal chondral mesenchymal hamartoma, and small bowel polyps. Our case report presents a child diagnosed with PPB with maternal history of bilateral ovarian Sertoli-Leydig cell tumors and papillary carcinoma of the thyroid. Molecular analysis performed on the patient and mother showed a specific gene change (c. 2830) in the DICER1 gene. The patient underwent surgical resection of the tumor and five cycles of chemotherapy. Despite this aggressive treatment, she eventually succumbed to brain metastases and was made comfort care after suffering a massive brain hemorrhage several months after the initial diagnosis of her disease.

Conduite à tenir devant une tumeur hépatique de l’enfant

Two-thirds of pediatric liver tumors are malignant, but pseudotumors such as abscesses or hematoma can simulate a tumor. The pediatrician is often the first to discover a hepatic mass in a child. The diagnostic gamut varies depending on the child's age. Before the age of three years, the main diagnoses are hepatoblastoma and hemangioma, while after the age of three, hepatocarcinoma, sarcoma, focal nodular hyperplasia, and adenoma are more frequent. The laboratory findings to search for are alpha-fetoprotein whatever the age (increased in hepatoblastoma and hepatocarcinoma), beta-hCG, and urinary catecholamines in infants. Liver function is usually normal. Ultrasonography is the first-line examination to request. It confirms the hepatic location of the mass, differentiates solid from cystic tumors (cystic mesenchymal hamartoma and undifferentiated sarcoma), hypervascular findings (hemangioma in the infant, focal nodular hyperplasia in the older child), portal or hepatic thrombosis suggesting a malignant tumor, and findings of portacaval fistula predisposing to focal nodular hyperplasia and adenoma. At the end of this clinical, biological, and ultrasound examination, the pediatrician will refer the patient to a specialized center for further investigation and management, which are at best performed by pediatric oncologists, surgeons, and radiologists. Diagnostic confirmation and extension work-up will require CT or MRI depending on the patient's age and clinical state and the availability of equipment.