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PubMed2002

Interictal spike EEG source analysis in hypothalamic hamartoma epilepsy.

OBJECTIVE: The epilepsy associated with the hypothalamic hamartomas constitutes a syndrome with peculiar seizures, usually refractory to medical therapy, mild cognitive delay, behavioural problems and multifocal spike activity in the scalp electroencephalogram (EEG). The cortical origin of spikes has been widely assumed but not specifically demonstrated. METHODS: We present results of a source analysis of interictal spikes from 4 patients (age 2-25 years) with epilepsy and hypothalamic hamartoma, using EEG scalp recordings (32 electrodes) and realistic boundary element models constructed from volumetric magnetic resonance imaging (MRIs). Multifocal spike activity was the most common finding, distributed mainly over the frontal and temporal lobes. A spike classification based on scalp topography was done and averaging within each class performed to improve the signal to noise ratio. Single moving dipole models were used, as well as the Rap-MUSIC algorithm. RESULTS: All spikes with good signal to noise ratio were best explained by initial deep sources in the neighbourhood of the hamartoma, with late sources located in the cortex. Not a single patient could have his spike activity explained by a combination of cortical sources. CONCLUSIONS: Overall, the results demonstrate a consistent origin of spike activity in the subcortical region in the neighbourhood of the hamartoma, with late spread to cortical areas.

Action Potentials↗
PubMed1993

Recombinations of chromosomal bands 6p21 and 14q24 characterise pulmonary hamartomas.

Cytogenetic analysis of short-term cultures from seven pulmonary hamartomas revealed an abnormal karyotype in six of them. The most characteristic aberration was an exchange of material between 6p21 and 14q24, found in three tumours. Abnormalities of either 6p or 14q were seen in another two hamartomas. Other regions that were rearranged more than once were 12q (three times) and 17p (twice), sometimes in exchange with 6p or 14q and giving rise to complex derivative chromosomes. Only one tumour had aberrations that did not involve 6p, 12q, 14q, or 17p. These results-together with the data on three previously reported pulmonary hamartomas, two of which also had t(6;14)-show that recombinations between 6p21 and 14q24 are common, and hence probably pathogenetically important. The data support the view that these tumours are genuine neoplasms rather than developmental anomalies. The coexistence of a common 14q24 breakpoint in uterine leiomyomas and pulmonary hamartomas indicates that a gene important in the genesis of both tumours exists in this band.

Adult↗
PubMed2002

Multiple basaloid follicular hamartomas associated with acrochordons, seborrhoeic keratoses and chondrosarcoma.

Basaloid follicular hamartoma is an uncommon neoplasm with distinctive histopathological findings. It presents as four distinctive clinical forms: a solitary papule, a localized plaque of alopecia, a localized linear and unilateral type, and generalized papules with associated alopecia and myasthenia gravis. Histologically, basaloid follicular hamartomas are characterized by thin branching strands and thick cords of basaloid or squamoid cells extending from a follicle into a loose, fibrillar, fibrocytic or mucinous connective tissue stroma. We report a case of long-standing, generalized basaloid follicular hamartomas associated with acrochordons, seborrhoeic keratoses, and a history of chondrosarcoma. In general, solitary tumours are sporadic; multiple tumours are inherited and frequently associated with a syndrome. Further surveillance is warranted to determine if the association of multiple basaloid follicular hamartomas and chondrosarcoma constitutes an inherited syndrome.

Acrodermatitis↗
PubMedDate not supplied

Invasive lobular carcinoma in a breast hamartoma.

Hamartomas are uncommon benign breast neoplasms. We report the first case, to our knowledge, of invasive lobular carcinoma arising in a breast hamartoma. This case illustrates the importance of careful interpretation of the clinical and mammographic findings. A more aggressive approach toward the management of breast hamartomas is not justified when clinical and mammographic findings are consistent with classic hamartomas.

Breast Neoplasms↗
PubMed2003

The clinical spectrum of epilepsy in children and adults with hypothalamic hamartoma.

PURPOSE: Hamartomas of the hypothalamus (HH) cause an uncommon and unusual epilepsy syndrome. The condition is recognized to affect children, but the presentation in adults is not well understood. We present 19 children and adult patients with HH, including three patients whose epilepsy began in adult life. The patterns of clinical presentation, evolution of the epilepsy from childhood to adult life, and electroclinical diagnostic features are presented. METHODS: Nineteen patients, both children and adults with HH and epilepsy, were evaluated clinically, with EEG, video-EEG, and magnetic resonance imaging (MRI) scanning. Seven patients underwent surgical resection of the hamartoma. Stereotactic thermocoagulation of the hamartoma was performed in two patients. RESULTS: Gelastic seizures occurred at onset of epilepsy in 15 of 16 early-onset cases. Subsequently, multiple seizures types occurred, which then evolved to mainly partial epilepsy with tonic or complex partial seizures (five of eight adults), or became entrenched symptomatic generalized epilepsy with atypical absences, drop attacks, and secondarily generalized seizures, and cognitive impairment (three of eight adults). In the adult-onset patients, gelastic seizures were not prominent, the epilepsy was milder, and they functioned normally. Stereotactic thermocoagulation of the hamartoma resulted in improvement in seizure control in two patients. CONCLUSIONS: Gelastic seizures are not a prominent feature of epilepsy in adult patients with HH. The epilepsy associated with HH, although severe at onset, can evolve into a milder syndrome in later life. For less severely affected patients, minimally invasive alternatives to the traditionally difficult open surgical treatment should be considered.

Adolescent↗
PubMed2005

Linear accelerator stereotactic radiosurgery for the treatment of gelastic seizures due to hypothalamic hamartoma.

PURPOSE: There are reports of successful gamma-knife stereotactic radiosurgery (SRS) for the treatment of gelastic seizures associated with a hypothalamic hamartoma. The authors reviewed the results of linear accelerator (LINAC) radiosurgery for patients with medically refractory gelastic seizures due to a sessile hypothalamic hamartoma. METHODS: Three patients with gelastic seizures received SRS between 2003 and 2004. All patients had associated partial complex and/or generalized seizures. One patient demonstrated aggressive behavior. Sessile hamartomas varying in diameter from 6 to 14 mm were identified by MRI. SRS was delivered to a single isocenter by a dedicated LINAC equipped with either a circular beam collimator or a micromultileaf collimator. Patients received 1500 to 1800 cGy prescribed at the 90 to 95 % isodose line. Seizure outcome was scored according to Engel's classification. RESULTS: Two patients became free of gelastic and partial complex/generalized seizures seven and nine months after radiosurgery. These patients remain free of seizures at 17 and 15 months, respectively, after treatment (Engle Class IA). One patient experienced a decline in gelastic seizure frequency nine months after treatment (Engle Class II) without significant reduction in aggressive behavior. Follow-up MRI demonstrated no change in the size or signal characteristics of any tumor. No patient developed post-treatment cranial neuropathy or hypothalamic-pituitary suppression. CONCLUSIONS: LINAC SRS represents a safe and effective therapeutic alternative for patients with medically refractory gelastic seizures due to unresectable hypothalamic hamartomas. Radiosurgery is associated with a latency of several months from treatment to reduction in seizure frequency. Further follow-up is required to establish the duration of seizure control following radiosurgery.

Adult↗
PubMed1987

Hamartoma of the tuber cinereum in a six-month-old boy, causing isosexual precocious puberty.

A case of hamartoma of the tuber cinereum causing isosexual precocious puberty in a six-month-old boy, in whom the lesion was successfully extirpated, is presented. Our patient was relatively young, since hamartomas causing sexual precocity most often occur between the ages of one and three years. Hamartomas are discussed from the clinical and pathological points of view. The mechanisms of initiating pubertas praecox in cases of cerebral tumours, particularly hamartomas, are reviewed.

Hamartoma↗
PubMed2003

Chromosomal aberrations, profiles of expression of growth-related markers including galectins and environmental hazards in relation to the incidence of chondroid pulmonary hamartomas.

This prospective study includes 103 cases of chondroid pulmonary hamartomas, resected over a period of nearly six years. Genes encoding proteins of the high motility group (HMGI-C, (Y), chromosomes 12q15 and 6p21) were analyzed cytogenetically. Furthermore, we examined the expression of growth-regulatory markers, including galectins-1, -3, -8, heparin-binding lectin (HBL), calcyclin (S100A6) and macrophage migration inhibitory factor (MIF), as well as that of Ki-67 (MIB-1). Syntactic structure analysis was applied to automated classification of stained histological slides and for the detection of topological properties in hamartomas and disease-free lung. These data were set in relation to clinical features, including environmental hazards, smoking habit, and the occurrence of heart-lung disease. Men and women contributed to the study in 61 and 42 cases, respectively. Smoking was frequent (75% men and 54% women), with a mean tobacco consumption of 36 pack years. Aberrations affecting exclusively the HMGI-C gene and the HGMI(Y) gene were seen in 46 cases (44.7%) and in 22 cases (21.3%), respectively. Both genes were affected in only one case. Abnormalities most frequently occurred in chromosomal bands 6p12 and 12q14. Genetic aberrations were significantly increased in men exposed to environmental (occupational) risk factors, excluding smoking (p < 0.05), and in tumors larger than average hamartomas. There were significant differences in staining profiles, particularly for calcyclin and MIF. The mean proliferation index was Nv = 9.9 +/- 6.4%; structural entropy was similar in all markers applied. Owing to their remarkably high values (from 142 to 148), these data were in contrast to a low current of entropy seen in most markers applied. The staining profile identified several markers that delimited cell positivity from normal parenchymal cells. These results contribute to the definition of biochemical characteristics in hamartomas and can be useful for distinguishing them from chronic degenerative disorders.

Bacterial Proteins↗
PubMed2005

Solitary bile duct hamartoma of the liver.

Bile duct hamartomas, also known as von Meyenburg complexes, are benign liver malformations which usually present as multiple small nodules scattered in both lobes of the liver. We report a unique case of bile duct hamartoma. An asymptomatic 30-year-old man who had a solitary cystic lesion underwent partial hepatectomy. Macroscopically, the lesion, measuring 3.6 cm in diameter, was composed of a number of small grayish-white cysts measuring 0.1 to 1.2 cm in diameter. Histologically, the constituent cysts were embedded in a fibrous stroma and were lined by low columnar or cuboidal epithelium. By immunohistochemistry, the MIB-1 index was below 1%, and p53 and carcinoembryonic antigen (CEA) were negative. These findings lead us to conjecture that the lesion was a bile duct hamartoma, although its solitary nature and large size differed from those of typical bile duct hamartoma.

Adult↗
PubMed1993

Callosotomy for generalized seizures associated with hypothalamic hamartoma.

A case is reported of intractable epilepsy associated with a hypothalamic hamartoma in an 18 year old man. The patient underwent a two-third anterior callsotomy and, subsequently, removal of the hamartoma. Callosotomy did not affect the generalized seizure pattern. The authors believe this to be the first documented case of hypothalamic hamartoma in which callosotomy for seizure control was attempted. The poor response to callosotomy suggests the extracallosal diffusion of the generalized seizures from hypothalamic hamartomas.

Adolescent↗
PubMed1994

Human eccrine hamartoma of the forearm-antebrachial organ of the ringtailed lemur (Lemur catta). A possible phylogenetic relationship?

A 31-year-old woman presented with a clinically otherwise unsuspicious area of profuse sweating on her right forearm. Without triggering agents, sweating attacks producing a clear, serous fluid were observed daily. Histopathologic examination of a biopsy specimen showed hyperplastic eccrine glands with pale, stippled cytoplasm characteristic of eccrine hamartoma. No explanation, however, has been given for the fact that several authors observed eccrine hamartomas in the same anatomical location. Adolescent lemurs of the species catta (ringtailed lemur) are equipped with a pair of antebrachial cutaneous glands located on the volar surface of the wrist. They exude a clear secretion enabling them to "brachial branch mark" their territories. Histopathologic findings in the ringtailed lemur's antebrachial organ show characteristics of both apocrine and eccrine glands. In contrast to normal apocrine glands, however, the antebrachial organs of ringtailed lemurs reach the epidermis directly and are not connected to hair follicles. According to the "biogenetic law" of Ernst Haeckel, stating that ontogeny has to be seen as a short and incomplete repetition of phylogeny, a human fetus passes all evolutional stages from a single cell via amphibians and mammals to a human being. Thus, the antebrachial organ of the ringtailed lemur may be the "phylogenetic explanation" for eccrine hamartomas of the forearm in humans. The histopathologic findings of the antebrachial organ and of eccrine hamartomas are in accordance with this hypothesis.

Adult↗
PubMed1999

Neurofollicular hamartoma with strong diffuse S-100 positivity: a case report.

Neurofollicular hamartoma is a recently described lesion with a distinct pilosebaceous and spindle cell proliferation. Neurofollicular hamartoma is composed of spindle cells haphazardly arranged in a fibromyxoid stroma closely associated with an abnormal hyperplasia of folliculosebaceous units. Although this histologic pattern has been classified as "neurofollicular," all cases reported thus far have had only scattered spindle cells with S-100 positivity. We present a case of neurofollicular hamartoma with strong and diffusely positive staining of spindled cells for S-100 protein. This lesion also shows scattered positivity of spindle cells for monoclonal neuron specific enolase and synaptophysin. We interpret the results of immunostains of this lesion as evidence for neural differentiation. This case validates the concept of "neurofollicular" hamartoma.

Adult↗
PubMed1999

Spinal cord hamartoma: case report.

OBJECTIVE AND IMPORTANCE: Spinal cord hamartomas are infrequently mentioned in the literature. The authors present a unique report detailing the clinical presentation of a spinal cord hamartoma, with supporting radiographic and pathological data. CLINICAL PRESENTATION: A 26-year-old man presented with progressive right upper extremity weakness. Imaging studies revealed an exophytic cervical spinal cord mass. INTERVENTION: Open biopsy was undertaken and revealed tethering of the lesion to the dura. A pathological examination revealed a spinal cord hamartoma. CONCLUSION: The patient's symptoms improved postoperatively, suggesting that tethering of the spinal cord was responsible for the symptoms. Although unusual, hamartoma should be included in the differential diagnosis of an exophytic spinal cord lesion.

Adult↗
PubMed2006

Salivary gland-type tumors with myoepithelial differentiation arising in pulmonary hamartoma: report of 2 cases of a hitherto unrecognized association.

Reported is a hitherto unrecognized association of pulmonary hamartomas with salivary gland-type tumors showing myoepithelial differentiation, namely, a case of myoepithelioma arising in a otherwise classic hamartoma with cartilage predominance, and a case of malignant mixed tumor arising in a predominantly fibrous hamartoma resembling müllerian adenofibroma. The tumors occurred in middle-aged female patients of 35 and 44 years, respectively, and presented as 7 cm (treated with lobectomy) and 13 cm (treated with pneumonectomy) masses of the right upper lobe showing a short clinical history of cough, dyspnea, and wheezing. Both lesions did not present regional lymph node metastases after mediastinal lymphadenectomy. The myoepithelioma patient was well with no signs of recurrent disease at 6-month clinical control, but she was then lost to follow-up; the malignant mixed tumor patient is alive and well after 6 months since operation. Both tumors presented with morphologic and immunohistochemical features of myoepithelial cells, and we interpret them as being derived from a myoepithelial-like stromal cell population found within the hamartomatous areas, which is also consistently detected in classic pulmonary hamartoma. The lack of individual cell necrosis, mitotic activity, cell atypia, and pulmonary parenchyma infiltration supported a diagnosis of benign or unproven malignant potential tumor for the myoepithelioma, whereas the reverse held true for the other tumor in which the diagnosis of malignant mixed tumor of the lung was rendered. Their main importance of recognizing this association lies in separating these tumors histologically from other monophasic or biphasic tumors, either primary or secondary, such as pulmonary sarcomatoid carcinomas or true sarcomas, and metastatic salivary gland tumors, spindle cell carcinomas, melanomas, and soft tissue and visceral sarcomas.

Adult↗
PubMed2006

Immunoreactivity for sex steroid hormone receptors in pulmonary hamartomas.

Sex steroid hormone [ie, estrogen (ER), progesterone (PgR), and androgen (AR)] receptors have been identified previously in normal salivary glands and, more variably, in salivary gland and salivary gland-type tumors. No data are available, however, on their expression in pulmonary hamartoma, a benign biphasic tumor consisting of reactive epithelial cells and neoplastic fibromyxoid stroma, cartilage and fat, which shares some morphologic, immunophenotypic, and genotypic features to pleomorphic adenoma of major salivary glands. Thirty pulmonary hamartomas (15 in male patients and 15 in age-matched female patients), were evaluated for ER, PgR, and AR immunoreactivity, and also for mesenchymal, epithelial, and myoepithelial markers, in the fibromyxoid, epithelial, and chondroid components. ER immunoreactivity was encountered in 90% of hamartomas, PgRs in 90%, and ARs in 53% (P<0.001), but not in normal lung tissues. ARs were confined to males (P<0.001), with a marginal prevalence in the fibromyxoid component (P=0.067). PgRs and ERs were instead present in both sex, with the former being restricted to the fibromyxoid stromal component (P<0.001) and the latter preferentially located in epithelial cells (P=0.107). In most cases, fibromyxoid stroma and spindle cells surrounding the chondroid foci displayed simultaneous immunoreactivity for ERs, PgRs, and ARs, along with immunoreactivity for vimentin, S-100 protein, glial fibrillary acid protein, smooth muscle actin, and calponin but lack of staining for cytokeratins. This profile is consistent with an incomplete myoepithelial differentiation of the receptor-expressing mesenchymal cells. In conclusion, sex steroid hormone receptor expression is a nonrandom event in pulmonary hamartoma, and may be related to the development and growth of this tumor.

Adult↗
PubMed1977

Malignant change in a solitary hamartoma of the lung. A case report.

A case report of a malignant hamartoma of the lung observed in a 36-year-old housewife was presented. The hamartoma was non-chondromatous (fibromyomatous), located beneath the pleura of the left upper lobe. The malignant lesion corresponded to anaplastic carcinoma of the lung. A review of the literatures on the malignant hamartoma of the lung revealed rare incidences of the tumor, but hamartoma and hamartomatous lesions of the lung should be regarded as one of the histopathological backgrounds where pulmonary carcinoma may arise.

Adult↗
PubMed1986

Splenic hamartoma.

A 73-year-old female with a calcified splenic mass received exploratory laparotomy and subsequent splenectomy. The histologic diagnosis of the splenic tumor was hamartoma associated with secondary cystic degeneration and calcification of the cyst wall. The tumor was composed of red pulp-like and white pulp-like areas. The former contained many plasma cells and hyalinized trabecular vessels, while the main component in the latter was lymphocytes. Splenic hamartoma was first described by ROKITANSKY in 1861 under the name of "splenoma". Usually, this rare tumor is asymptomatic and represents an incidental finding at autopsy. To the best of our knowledge, this is the second case report of splenic hamartoma in Japan. The clinicopathological features of splenic hamartoma are briefly reviewed.

Aged↗
PubMed1996

Mammary hamartoma: immunohistochemical study of two adenolipomas and one variant with cartilage, smooth muscle and myoepithelial proliferation.

Three cases of mammary hamartoma were investigated immunohistochemically and are described. Case 1 was a 42 year old woman with an elastic hard tumor, 1.5 cm in diameter, in her left breast. Case 2 was a 49 year old woman with a semisoft tumor, 5 x 2 cm, in her right breast. Case 3 was a 47 year old woman with a hard tumor, 5 cm in diameter, in her left breast. In each case, mammography and ultrasonography revealed a benign-looking, well-circumscribed mass without calcification. Histologically, the tumors were composed of adipose tissue, mammary glands, and fibrous and/or fibromuscular tissue. The tumor in case 3 also contained small islands of hyaline cartilage. Immunohistochemical analysis was performed, and epithelial and mesenchymal components were discretely and differentially immunostained except that the smooth muscle component seemed to be derived from myoepithelial cells. Cartilage formation might be the result of metaplasia, and 'metaplastic variant of the mammary hamartoma' or 'choristoma' may be an appropriate term for cartilage-containing mammary hamartoma. Using proliferating cell nuclear antigen (PCNA)-immunostaining, we observed that each component of the tumors had an individual growth rate. This finding may reflect one aspect of the biological characteristics of hamartoma.

Adenoma↗