[Persistent elevation of Ca 19-9 and an unexpected finding. A case report]. / Elevación persistente de Ca 19-9 y un hallazgo inesperado. Reporte de un caso.

BACKGROUND: Tumour markers are substances produced by the tumour itself, or by the host in response to a tumour. These markers could be measured either in the blood or in body secretions. One of the most common tumour markers used in gastrointestinal diseases is Ca 19-9. It is the marker most used for pancreatic cancer, but can be elevated in many benign processes. Thus, it is not a specific marker. CLINICAL CASE: The case is presented of a male patient with 4 years of moderate abdominal pain, weight loss, and persistent elevation of Ca 19-9. After an extensive work-up, renal and hepatic cysts were found, as well as steatosis and, apparently, a gallbladder polyp. With these findings and the persistent elevation of Ca 19-9, it was decided to operate the patient. An exploratory laparoscopy was performed showing multiple, yellowish nodular lesions all over the hepatic surface suggestive of metastases, as well as simple hepatic cysts. Pathology reported biliary hamartomas, steatosis, and chronic cholecystitis. After 2years of follow up, although there is no evidence of malignant neoplasia, there is still an elevation of Ca 19-9. CONCLUSION: The persistent elevation of Ca 19-9 is probably due to the presence of multiple benign diseases such as steatosis, urolithiasis, hepatic and renal cysts, and cholecystitis. An algorithm is needed for healthy patients with elevated levels of Ca 19-9 marker, in order to lower costs, avoid misdiagnoses, and improve management.

Surgical treatment of hypothalamic hamartoma causing central precocious puberty: long-term follow-up.

Hypothalamic hamartoma (HH) is a rare condition that often manifests as central precocious puberty (CPP). There is a lack of information available concerning the long-term effectiveness of surgery for the treatment of CPP due to HH. Here the authors describe 3 cases of CPP due to HH, with a follow-up ranging from 9 to 11 years after surgery. Three girls experienced breast growth and menses at 5-18 months of age and 5-36 months of age, respectively. Serum concentrations of luteinizing hormone, follicle-stimulating hormone, and estradiol concentrations ranged from 2.5 to 6.5 mIU/ml, 4.8-5.9 mIU/ml, and 47.9-133.0 pg/ml, respectively. Magnetic resonance imaging confirmed that CPP was caused by HH. Lesions were resected using a right pterional approach. After surgery, endocrine hormone concentrations were normalized, breasts shrunk, and menses ceased in each patient. Moreover, all of them subsequently developed normally and experienced age-appropriate onset of puberty. Each patient's height and weight were normal at the most recent follow-up (9-11 years after surgery), and none had experienced learning difficulties. Central precocious puberty due to HH can be successfully treated with resection. In the 3 cases presented, this approach was associated with both short- and long-term efficacy.

Successful treatment of hyperphagia by resection of a hypothalamic hamartoma.

Hypothalamic hamartomas (HHs) are benign lesions that are often associated with central precocious puberty and may present with gelastic seizures. Treatment modalities for HH include medical therapy with long-term gonadotropin-releasing hormone analogs or resection. The authors report the case of a 7-year-old girl who was diagnosed with an HH due to precocious puberty and was treated medically with a gonadotropin-releasing hormone analog for 3 years. Despite normalization of her plasma levels of luteinizing hormone, follicle-stimulating hormone, and estradiol and arrest of her precocious puberty, the patient developed progressive weight gain associated with extreme hyperphagia and morbid obesity by the age of 10 years. Her compulsive eating patterns were refractory to counseling and other interventions attempted by her parents and physicians. After resection of the HH, her hyperphagia resolved and her weight stabilized. To the authors' knowledge, this is the first report describing resection of an HH for the purpose of treating hyperphagia and obesity.

[Left lobe mesenchymal hamartoma of liver. Uncommon location]. / Hamartoma mesenquimatoso del hígado en el lóbulo izquierdo. Localización poco común.

BACKGROUND: Mesenchymal hamartoma of the liver is a rare benign liver tumor in children, usually arising from the right liver lobe and represents about 5 to 6% of all primary hepatic tumors. Complete surgical resection of the tumor is curative. CLINICAL CASE: A 30 months old male presented with epigastrium abdominal pain and a palpable mass over a period of two days with no other symptom. The mass was excised completely. Postoperatively the patient recovered with an uneventful course and was discharge 13 days following surgery. All microscopic findings were consistent with the diagnosis of mesenchymal hamartoma of the liver. CONCLUSIONS: Approximately 75% of mesenchymal hamartoma of the liver occur in the right lobe of the liver. Several diagnostic considerations should be elucidated to differentiate these type of tumors in the left lobe from other benign liver tumors. Sometimes a multidisciplinary approach is necessary to complete a successful complete surgical excision. Our case exemplifies a rare entity in a rare location, an adequate treatment in a third level reference hospital setting.

Long-term follow-up of a multifocal hepatic mesenchymal hamartoma producing a-fetoprotein.

We here present a 6-month-old girl with cystic hepatic mesenchymal hamartoma and elevated a-fetoprotein (aFP). Following hepatectomy of the left lobe and partial right lobectomy, decline of the serum aFP was observed. The child has been well for 20 years and it is one among a few cases with such a long observational period.

Stromal-predominant mesenchymal hamartoma of the liver with elevated serum alpha-fetoprotein level.

Mesenchymal hamartoma of the liver (MHL) is an uncommon, benign, tumor-like lesion and is usually diagnosed in the first 2 years of life. Its pathogenesis remains unclear. Treatment of choice is radical excision. The authors report a case of solid stromal predominant MHL in a 12-month-old male infant who also had an elevated serum alpha-fetoprotein level. He also had hypospadias, which might represent a spectrum of developmental anomalies. It usually presents as an asymptomatic mass, however, as in the reported case, it may cause several complications due to the compression of surrounding structures. He was successfully treated with total excision of the pedunculated large tumor without any complication.

Mesenchymal hamartoma of the liver mimicking hepatoblastoma.

Mesenchymal hamartoma of the liver is a cystic benign liver mass occurring in children. Diagnostic confusion with hepatoblastoma may arise when alpha-feto-protein (AFP) level is elevated. We report an extremely rare case of mesenchymal hamartoma in an 11-month-old boy. Serum AFP was elevated and fine-needle aspiration biopsy suggested the lesion as hepatoblastoma, so he received preoperative chemotherapy. At the end of the preoperative chemotherapy, the tumor size and AFP level decreased. A right hepatectomy was performed. The pathologic examination of the specimen revealed mesenchymal hamartoma. Mesenchymal hamartoma of the liver with increased serum AFP levels may mimic hepatoblastoma if a cytological examination samples only the hepatocellular component of mesenchymal hamartoma. According to our knowledge, this is the first case of the mesenchymal hamartoma of the liver, which showed reduction in serum levels of AFP and involution of the tumor size by preoperative chemotherapy.

Mesenchymal hamartoma of the liver associated with features of Beckwith-Wiedemann syndrome and high serum alpha-fetoprotein levels.

A 5-month-old girl with clinical features of Beckwith-Wiedemann syndrome (BWS), including a repaired omphalocele, an earlobe crease, enlarged adrenal glands, renal size discrepancy, and hyperinsulinemic hyperglycemia, presented with a 1.9-cm liver nodule. Markedly increased serum alpha-fetoprotein (AFP) levels (1,060,000 mg/L), highly suspicious for hepatoblastoma, were detected, and resection of the liver mass was performed. Histologic sections showed features characteristic of a mesenchymal hamartoma of the liver (MHL). No features of embryonal or fetal hepatocellular proliferation or heterologous stromal components were noted. By immunohistochemistry, the hepatocytes expressed AFP, but no nuclear accumulation of beta-catenin was present. Electron microscopy revealed normal, mature hepatocytes. Here we address the diagnostic challenge of the uncommon association of MHL and BWS in the setting of markedly elevated serum AFP levels. In addition, we analyze the unusual pancreatic lesion (focal endocrine adenomatosis) leading to severe hyperinsulinemic hypoglycemia in a patient with possible BWS. We emphasize that MHLs may present with markedly increased serum AFP levels, mimicking hepatoblastomas, and may also be part of the expanding spectrum of findings of BWS.

Presentation and evolution of organic central precocious puberty according to the type of CNS lesion.

OBJECTIVE: To evaluate the influence of the type and treatment of CNS lesion causing central precocious puberty (CPP) on the presentation, hypothalamic-pituitary function and final height. PATIENTS: One hundred patients with CPP caused by central nervous system (CNS) lesion. RESULTS: The CPP was the presenting symptom of the lesion in 25 (10 boys) and occurred in 75 patients (23 boys) previously treated for lesions. These were optic glioma or astrocytoma (n = 45), hydrocephalus (n = 22), hypothalamic hamartoma (n = 15), suprasellar arachnoid cyst (n = 10) and others (n = 8). The percentages of patients with increased height, bone age advance, testicular volume, LH/FSH peaks ratio after gonadotrophin-releasing hormone (GnRH) test and plasma testosterone concentration in boys and oestradiol in girls varied from one aetiology to another. The boys with hamartoma were significantly taller and had greater bone age advance, LH peak and testosterone than boys with optic glioma. The girls with hamartoma and suprasellar arachnoid cyst were significantly younger and had greater LH peak than girls in the other groups. All patients treated for optic glioma had hypothalamic-pituitary deficiencies, including GH (100%), thyrotrophin (71.4%), corticotrophin (12.5%) and pubertal (34.3%) deficiencies. Sixty percent of those with suprasellar cysts lacked GH. Final height was below -2 SD in 15/59 (25%) patients, including 5/11 not treated with GnRH analogue, 3/5 not treated with GH despite GH deficiency, and 2 with hydrocephalus as a result of meningomyelocele. CONCLUSIONS: The type of CNS lesion influences the presentation of CPP. This is probably caused by differences in the mechanisms inducing puberty and to the hypothalamic-pituitary deficiencies associated with the CPP as a result of a lesion and/or its treatment.

A carcinoembryonic antigen-secreting adenocarcinoma arising in tailgut cyst: clinical implications of carcinoembryonic antigen.

Tailgut cysts (TGCs) are rare congenital cysts that occur in the retrorectal or presacral spaces. Although most tailgut cysts have been reported as benign, there have been at least 9 cases associated with malignant change. We report herein on an unusual case of a 40-year-old woman with a carcinoembryonic antigen (CEA)-producing adenocarcinoma arising within a TGC who underwent surgical resection and local radiation therapy. Despite the complete resection, metastatic adenocarcinoma developed five months after surgery. CEA-producing adenocarcinoma from a TGC is extremely rare and only two cases, including this case, have been reported in the English medical literature. Besides CEA, the serum levels of CA 19-9 became markedly elevated in this patient. Given that the serum CEA level decreased to the normal range after complete resection of tumor and that the tumor recurrence was associated with a rebound of the CEA serum level, our case shows that serial measurements of serum CEA can be used for treatment planning and for assessing the patient's treatment response for this rare disease.

A Carcinoembryonic Antigen-Secreting Adenocarcinoma Arising in Tailgut Cyst : Clinical Implications of Carcinoembryonic Antigen

Tailgut cysts (TGCs) are rare congenital cysts that occur in the retrorectal or presacral spaces. Although most tailgut cysts have been reported as benign, there have been at least 9 cases associated with malignant change. We report herein on an unusual case of a 40-year-old woman with a carcinoembryonic antigen (CEA) -producing adenocarcinoma arising within a TGC who underwent surgical resection and local radiation therapy. Despite the complete resection, metastatic adenocarcinoma developed five months after surgery. CEA-producing adenocarcinoma from a TGC is extremely rare and only two cases, including this case, have been reported in the English medical literature. Besides CEA, the serum levels of CA 19-9 became markedly elevated in this patient. Given that the serum CEA level decreased to the normal range after complete resection of tumor and that the tumor recurrence was associated with a rebound of the CEA serum level, our case shows that serial measurements of serum CEA can be used for treatment planning and for assessing the patient's treatment response for this rare disease.

Mesenchymal hamartomas of the liver may be associated with increased serum alpha foetoprotein concentrations and mimic hepatoblastomas.

A mesenchymal hamartoma (MH) of the liver in a seven-month-old girl was associated with slightly elevated alpha fetoprotein (AFP) concentrations (320 microg/L, normal < 25 after six months of age). Hepatocytes were abundant at the periphery of the tumour at histopathological examination. These were slightly atypical and expressed AFP immunohistochemically. In two other girls, aged 14 months and two months respectively, with MH and increased serum AFP concentrations (320 microg/L and 7500 microg/L, respectively), hepatoblastomas were misdiagnosed preoperatively. MH of the liver with increased serum AFP concentrations may thus mimic hepatoblastoma radiologically if cysts are lacking, and foetal hepatoblastoma pathologically if a biopsy samples only the peripheral hepatocellular component of the MH.

Hypothalamic hamartoma secreting corticotropin-releasing hormone. Case report.

The authors describe a unique case of a 2-year-old boy with a hypothalamic hamartoma secreting corticotropin-releasing hormone (CRH). The patient presented with a history of behavioral disturbances progressing over 12 months. His neurological status was intact. Magnetic resonance imaging demonstrated a 1.8 x 1.6 x 1.2-cm isointense, nonenhancing hypothalamic lesion. Endocrinological workup revealed elevated serum CRH and adrenocorticotropic hormone levels, nonsuppression with low-dose dexamethasone, and partial suppression with high-dose dexamethasone. He underwent tumor resection via a right frontotemporal craniotomy. Pathological examination of the tissue confirmed a hypothalamic hamartoma with CRH immunostaining. Postoperatively, his hormone levels normalized and his behavioral disturbances abated. The radiographic and clinical characteristics of hypothalamic hamartomas are reviewed and therapeutic considerations discussed.

Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome.

Pallister-Hall syndrome (PHS) is characterized by hypothalamic hamartoma, bifid epiglottis, and central or postaxial polydactyly. Familial transmission is autosomal dominant; isolated cases also occur. To screen for hypothalamic-pituitary dysfunction in PHS, we studied a 12 year-old boy (patient #1), and 14 additional patients (patients #2-14: 7M, 7F; ages 4-72 yr). We performed serial sampling of GH, LH/FSH, TSH, and cortisol from 20.00-08 00 h. At 08.00 h, we measured IGF-I, peak responses of LH and FSH after GnRH, and cortisol after ACTH. We found that 6/7 children, including patient #1, and 6/8 adults had low or absent spontaneous GH secretion and/or low levels of IGF-I. Patient #1 also had accelerated pubertal development, but no other patient had abnormalities of the pituitary-gonadal axis, and none of the 14 patients had an abnormal thyroid or adrenal axis. We conclude that decreased pituitary GH secretion is common in PHS, and may exist in the absence of other forms of endocrine dysfunction.

Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot.

The gonadotropin releasing hormone (GnRH) secreting hypothalamic hamartoma (HH) is a congenital malformation consisting of a heterotopic mass of nervous tissue that contains GnRH neurosecretory neurons attached to the tuber cinereum or the floor of the third ventricle. HH is a well recognised cause of gonadotropin dependent precocious puberty (GDPP). Long term data are presented on eight children (five boys and three girls) with GDPP due to HH. Physical signs of puberty were observed before 2 years of age in all patients. At presentation with sexual precocity, the mean height standard deviation (SD) for chronological age was +1.60 (1.27) and the mean height SD for bone age was -0.92 (1.77). Neurological symptoms were absent at presentation and follow up. The hamartoma diameter ranged from 5 to 18 mm and did not change in six patients who had magnetic resonance imaging follow up. All patients were treated clinically with GnRH agonists (GnRH-a). The duration of treatment varied from 2.66 to 8.41 years. Seven of the eight children had satisfactory responses to treatment, shown by regression of pubertal signs, suppression of hormonal levels, and improvement of height SD for bone age and predicted height. One patient had a severe local reaction to GnRH-a with failure of hormonal suppression and progression of pubertal signs. It seems that HH is benign and that GnRH-a treatment provides satisfactory and safe control for most children with GDPP due to HH.