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PubMed2002

Breast hamartomas: clinicopathological and immunohistochemical studies of 24 cases.

AIMS: The aim of our study was to investigate the clinical, pathological and immunohistochemical features of breast hamartomas, in order to obtain a detailed profile of this somewhat uncommon lesion. METHODS AND RESULTS: This study presents a clinical, pathological and immunohistochemical analysis of 24 breast hamartomas. Four cases of fibrocystic breast changes were used as a control group. The immunohistochemical panel induced oestrogen (ER) and progesterone (PR) receptors, c-erbB-2 protein, p53, Ki67, CK-MNF116, and vimentin. The patients ranged in age from 30 to 78 years (mean 48 years). All patients presented with a palpable unilateral mass. Three patients showed two hamartomas in the same breast. Tumours ranged from 20 to 50 mm in diameter. Typical macroscopic and microscopic features were noted. Immunohistochemical studies showed ER and PR receptor positivity in epithelial cells as well as in the stromal cells in all 24 cases. No c-erbB-2 protein over-expression was noted. p53 expression was not observed. Ki67 showed 2-3% positivity in epithelial cells and not in stromal cells in most cases. CONCLUSIONS: There was no association with side, ethnic origin or dietary habits. The immunohistochemistry of hamartomas is generally similar to normal breast or fibrocystic breast tissue. Ki67 together with receptor positivity may reflect some proliferative activity and explain observed faster growth of hamartoma during pregnancy and lactation.

Adult↗
PubMed2000

Angiomyomatous hamartoma and associated stromal lesions in the right inguinal lymph node: a case report.

Angiomyomatous hamartoma is a rare disease with a predisposition for the inguinal lymph nodes. A 51-year-old male patient visited a local hospital because of a right inguinal mass, measuring 3 x 4 cm in size, which was resected. The resected specimen showed irregularly distributed thick-walled vessels in the hilum, extending into the medulla and focally into the cortex of the node, eventually becoming more dispersed and associated with smooth muscle cells splaying into sclerotic stroma. These findings are compatible with an angiomyomatous hamartoma. Another tumor-like mass appeared shortly after the resection at the same location, but was not an angiomyomatous hamartoma, rather it was composed of edematous stromal tissue with proliferating smooth muscle cells. The stromal component included thick-walled blood vessels and lymphatics. Although it could not be determined whether these associated changes in the surrounding stroma are a cause or an effect of angiomyomatous hamartoma, they indicate the clinical difficulty in determining an appropriate area of resection and may provide clues to the pathogenesis of angiomyomatous hamartoma.

Actins↗
PubMed2003

Different electroclinical manifestations of the epilepsy associated with hamartomas connecting to the middle or posterior hypothalamus.

PURPOSE: The epilepsy associated with hypothalamic hamartomas (HHs) has typical clinical, electrophysiologic, and behavioral manifestations refractory to drug therapy and with unfavorable evolution. It is well known that only sessile lesions produce epilepsy, but no correlation has been established between the different types of sessile hamartomas and the diverse manifestations of the epilepsy. We correlate anatomic details of the hamartoma and the clinical and neurophysiologic manifestations of the associated epilepsy. METHODS: HHs of seven patients with epilepsy (ages 2- 25 years) were classified as to lateralization and connection to the anteroposterior axis of the hypothalamus by using high-resolution brain magnetic resonance imaging. We correlated the anatomic classification with the clinical and neurophysiologic manifestations of the epilepsy as evaluated in long-term (24 h) video-EEG recordings. RESULTS: HHs ranged in size from 0.4 to 2.6 cc, with complete lateralization in six of seven patients. Ictal manifestations showed good correlation with the lobar involvement of ictal/interictal EEGs. These manifestations suggest the existence of two types of cortical involvement, one associated with the temporal lobe, produced by hamartomas connected to the posterior hypothalamus (mamillary bodies), and the other associated with the frontal lobe, seen in lesions connecting to the middle hypothalamus. CONCLUSIONS: A consistent clinical and neurophysiologic pattern of either temporal or frontal lobe cortical secondary involvement was found in the patients of our series. It depends on whether the hamartoma connects to the mamillary bodies (temporal lobe cases) or whether it connects to the medial hypothalamus (frontal lobe cases).

Adolescent↗
PubMed1993

[Combined hamartoma of the retina and retinal pigment epithelium. CLinical Aspects and differential diagnosis to other melanocytic processes of the fundus].

BACKGROUND: The combined hamartoma of the retina and the retinal pigment epithelium is a rare but important differential diagnosis of the melanocytic lesions of the fundus. PATIENTS AND METHODS: We present a patient with the typical clinical picture and characteristic fluorescein angiography findings. The case report is followed by the discussion of the differential diagnoses and their specific signs. RESULTS: The combined hamartoma of the retina and the retinal pigment epithelium is a congenital malformation without growth potential, which may lead to a slow reduction of visual acuity due to secondary changes in the vitreoretinal interface followed by retinal traction. The hamartoma shows a typical clinical picture: unnoticed reduction of visual acuity, grayish tumor on the level of the retina with feathery margins, secondary epiretinal proliferation and traction of the neurosensory retina. The fluorescein angiography findings are pathognomonical for the hamartoma: early blockage of the choroidal hyperfluorescence due to the pigmentation of the tumor, a fine network of abnormal retinal capillaries with leakage, epiretinal traction, tortuositas of the larger retinal vessels without leakage. CONCLUSION: The retinal and pigmentepithelial hamartoma can be diagnosed in most of the cases by mere visual inspection. The diagnosis can be confirmed by fluorescein angiography and always has to be included to evaluate the differential diagnoses of all pigmented fundus lesions.

Adult↗
PubMed2001

Aggression and psychiatric comorbidity in children with hypothalamic hamartomas and their unaffected siblings.

OBJECTIVE: To assess aggression and psychiatric comorbidity in a sample of children with hypothalamic hamartomas and gelastic seizures and to assess psychiatric diagnoses in siblings of study subjects. METHOD: Children with a clinical history of gelastic seizures and hypothalamic hamartomas (n = 12; age range 3-14 years) had diagnoses confirmed by video-EEG and head magnetic resonance imaging. Structured interviews were administered, including the Diagnostic Interview for Children and Adolescents-Revised Parent Form (DICA-R-P), the Test of Broad Cognitive Abilities, and the Vitiello Aggression Scale. Parents were interviewed with the DICA-R-P about each subject and a sibling closest in age without seizures and hypothalamic hamartomas. Patients were seen from 1998 to 2000. RESULTS: Children with gelastic seizures and hypothalamic hamartomas displayed a statistically significant increase in comorbid psychiatric conditions, including oppositional defiant disorder (83.3%) and attention-deficit/hyperactivity disorder (75%). They also exhibited high rates of conduct disorder (33.3%), speech retardation/learning impairment (33.3%), and anxiety and mood disorders (16.7%). Significant rates of aggression were noted, with 58% of the seizure patients meeting criteria for the affective subtype of aggression and 30.5% having the predatory aggression subtype. Affective aggression was significantly more common (p < .05). Unaffected siblings demonstrated low rates of psychiatric pathology on semistructured parental interview and no aggression as measured by the Vitiello Aggression Scale. CONCLUSIONS: Children with hypothalamic hamartomas and gelastic seizures had high rates of psychiatric comorbidity and aggression. Parents reported that healthy siblings had very low rates of psychiatric pathology and aggression.

Adolescent↗
PubMed1994

Hamartomas of the breast: six novel diagnostic features in three-dimensional thick sections.

Fifteen hamartomas of the breast have been studied by dissecting microscopy of thick sections at a depth of 1.0 to 2.5 mm, and by conventional 5 microns deep sections. This combined approach has revealed six distinctive features, three in the parenchymal structure and three in the connective tissue components. Ducts (invariably of penetrating or arcuate configuration) and discrete lobules, neither of which are seen in lesions accepted as fibroadenomas, were invariably found. In one-third of hamartomas, up to 10% of the surface area was occupied by Herãti-style nodules composed of concentric rings of epithelium. In the hyaline interlobular connective tissue characteristic drifts of caraway seed-like fibrocytes, encasement of adipocytes by hyaline collagen, or spider-naevus vascular abnormalities were found in approximately half of the mammary hamartomas when examined in thick sections. Hitherto the positive diagnosis of hamartomas of the breast has relied on a combined clinical, radiological and pathological assessment. We suggest that the additional features described here, taken in conjunction with those already known, may facilitate the recognition of mammary hamartomas by histopathological examination alone.

Adult↗
PubMed1996

Ultrasonography of breast hamartomas.

The authors present the breast ultrasound findings of nine women with mammographic abnormalities typical of breast hamartomas. Two of the mammographically detected hamartomas could not be identified at breast ultrasound. Six hamartomas were well-circumscribed masses of heterogeneous echogenicity with no posterior acoustic shadowing. One lesion was a well-defined hypo-echoic mass with no posterior shadowing. We conclude that many mammographically and clinically detected hamartomas can be clearly identified at breast ultrasound. The breast sonographer should be aware of the spectrum of appearances that may occur. When a breast abnormality has the characteristic mammographic appearances of a hamartoma, it may be counterproductive to perform an additional breast ultrasound.

Adult↗
PubMed1978

Biliary hamartomas (von Meyenburg complexes) in liver needle biopsies.

2000 consecutive liver needle biopsies were examined for the occurrence of biliary hamartomas (von Meyenburg complexes, microhamartomas). In 12 biopsies (corresponding to 0.6 per cent) a total of 15 hamartomas were found as 2 biopsies contained 2 and 3 hamartomas, respectively. The incidence, morphology, location and differential diagnosis are discussed. In serial sections a communication between all the lumina in each hamartoma was found. In no case the diagnosis of biliary adenoma, congenital hepatic fibrosis or polycystic liver could be made. The hamartomas are of no clinical importance.

Aged↗
PubMed2002

Microinvasive lobular carcinoma associated with intraductal spread arising in a mammary hamartoma.

A 53 year old woman presented with a lump in the inner lower quadrant of the left breast. Histological examination of the breast tumour confirmed that the lesion was a mammary hamartoma. Carcinoma with foci of microinvasion was observed in the lobules of the hamartoma concomitant with the intraductal spread of lobular carcinoma. Immunohistochemically, the cancer cells were negative for beta-catenin, which generally stained normal breast ducts and ductal carcinomas. This is only the sixth case of breast carcinoma arising in a mammary hamartoma to be reported and, moreover, the fourth case of lobular carcinoma occurring within a hamartoma. Despite the apparent rarity of this case, pathologists should be aware of the possibility of carcinomas arising within mammary hamartomas.

Breast Diseases↗
PubMed2002

Hamartoma of the breast: a clinicopathological review.

AIMS: To review 25 cases of breast hamartoma and discuss the pathological criteria, and the usefulness of imaging modalities, fine needle aspiration cytology (FNAC), and needle core biopsy in the diagnosis. METHODS: The hamartomas were assessed for interlobular fibrotic stroma, stromal adipose tissue content, pseudo-angiomatous stromal hyperplasia, and epithelial changes (hyperplasia, adenosis or apocrine metaplasia, and cyst formation). All imagings, previous FNACs, and biopsies were also reviewed. RESULTS: Imaging (mammography, ultrasound, and magnetic resonance imaging) was performed in 18 cases, and mostly showed encapsulated masses with a heterogeneous appearance. Microscopically, all hamartomas demonstrated good demarcation with fibrous tissue condensation. Adipose tissue was noted in all cases (5-90%; mean, 31%), and interlobular fibrosis in 21 cases. Benign epithelial hyperplasia occurred in 10 cases, and pseudo-angiomatous stromal hyperplasia or cystic ducts in eight cases each. Apocrine metaplasia, calcification, stromal giant cells, and adenosis occurred in four cases or less. Two cases showed coexisting ductal carcinoma in situ limited to within the hamartoma. Needle core biopsies (four cases) and FNAC (14 cases) were largely insufficient, inconclusive, or non-specific. CONCLUSIONS: Hamartomas do not possess specific diagnostic histological features. The role of FNAC and needle core biopsy in making the diagnosis is limited, and requires clinical and radiological correlation to avoid underdiagnosis.

Adult↗
PubMed2001

Hamartoma and lentiginosis syndromes: clinical and molecular aspects.

The classic hamartoma syndromes and the related conditions discussed in this chapter show varying degrees of phenotypic and genetic overlap. Knowledge of the susceptibility genes underlying their phenotypes has provided additional information for the classification of these syndromes. Germline PTEN mutations appear to cause both CS and BRR. These two syndromes are therefore likely to be different manifestations of a single disease with variable expression. It has been suggested that PTEN mutation-positive CS and BRR should be grouped as a single entity for clinical purposes and classified as the 'PTEN hamartoma-tumour syndrome' [111]. Germline PTEN mutations are unlikely to cause JPS. However, germline SMAD4 mutation, especially a well-described 4-bp deletion, can be used to confirm a clinical diagnosis of JPS. Like the hamartoma syndromes, the lentiginoses also show substantial clinical overlap; it remains to be seen whether this is reflected in the molecular pathways that are involved in the pathogenesis of these syndromes. Given that the degree and type of cancer susceptibility between the hamartoma and lentiginosis syndromes is different, clarification of these syndromes at the molecular level is predicted to allow directed cancer surveillance. The molecular story is still evolving with regards to aspects of genetic heterogeneity, signalling pathways and the manner in which these hamartoma genes function in the development of their respective syndromes. It is likely that in all of these syndromes, tumours develop against a background created by loss of the growth-suppressive function of their susceptibility gene via mechanisms including disruption of the cell cycle and the activation of anti-apoptotic pathways.

Chromosome Mapping↗
PubMed1993

The luteinizing hormone-releasing hormone-secreting hypothalamic hamartoma is a congenital malformation: natural history.

The LHRH-secreting hypothalamic hamartoma (HH), a congenital malformation consisting of a heterotopic mass of nervous tissue that contains LHRH neurosecretory neurons attached to the tuber cinereum or the floor of the third ventricle, can cause true or central precocious puberty (TPP). We have suggested that it functions as an ectopic LHRH pulse generator independent of the central nervous system inhibitory mechanism that normally restrains the hypothalamic LHRH pulse generator. TPP associated with a hamartoma has all of the hormonal hallmarks of puberty, including a pubertal pattern of pulsatile LH and a pubertal plasma LH response to LHRH administration. Little is known about the natural history of HH. We present long term data on 10 children (5 females and 5 males) with TPP due to HH. Physical signs of puberty were observed at a mean age of 2.2 +/- 1.6 yr (range, 0.5-5.1). Two of 10 had a pedunculated mass, and 8 of 10 had a sessile mass. The hamartoma varied in diameter from 4-25 mm and did not change with time (3.5-8.7 yr). Four patients have a seizure disorder, 3 with gelastic seizures (1 with mental retardation) and 1 with tonic-clonic seizures. The shape of the hamartoma, sessile or pedunculated, did not correlate with the occurrence of seizures. At presentation with sexual precocity, the mean height SD for chronological age was +3.5 +/- 0.4, the mean height SD for bone age was -1.9 +/- 0.4, and the mean bone age SD for chronological age was +6.8 +/- 0.7. Baseline data were comparable to those of 10 females with idiopathic TPP. Nine of 10 HH patients and all idiopathic TPP patients were treated with a LHRH agonist. The response to therapy was excellent in both groups and indistinguishable. Nine of 10 HH children attend school regularly and, aside from those with seizures, have no neurological handicap. While surgical resection of the hamartoma has been recommended, it carries an increased risk of morbidity and mortality and, if removal is incomplete, does not arrest the sexual precocity. In our experience, LHRH agonist therapy for TPP due to HH is the preferable approach.

Child, Preschool↗
PubMed1993

Neurosurgical treatment of hypothalamic hamartomas causing precocious puberty.

Five children, three girls and two boys, were treated for precocious puberty secondary to hypothalamic hamartoma by resection of the hamartoma. The patients' ages at onset of pubertal development ranged from 6 to 19 months. The hamartomas ranged in size from 6 to 10 mm; four were pedunculated, one was sessile, and all were located below the tuber cinereum. The hamartomas were excised via a right subtemporal approach, with transection at the inferior surface of the hypothalamus; two were adherent posteriorly to the basilar artery and brain stem, and the adhesions were divided. Postoperatively, three children exhibited a transient oculomotor paresis and one other child required eye-muscle surgery. The symptoms and signs of precocious puberty completely regressed postoperatively in all patients. Preoperative hormone assays of testosterone, luteinizing hormone, and follicle-stimulating hormone were within the pubertal range in all five children; postoperative assays fell to prepubertal levels. The children have been followed for 0.5 to 10.5 years (mean 5.0 years) postoperatively, without evidence of recurrence of precocious puberty. One child has begun spontaneous puberty at a normal age. It is concluded that complete resection of hypothalamic hamartomas causing precocious puberty is curative.

Female↗
PubMed1999

Stereotactic radiofrequency ablation for the treatment of gelastic seizures associated with hypothalamic hamartoma. Case report.

The author presents the case of a patient with gelastic seizures associated with a hypothalamic hamartoma, in whom partial resection of the hamartoma followed by temporal lobectomy and orbitofrontal corticectomy failed to reduce the seizures. Subsequent stereotactic radiofrequency ablation of the hamartoma resulted in progressive improvement in the seizure disorder during a 28-month follow-up period. There is support in the literature for the concept that gelastic seizures originate directly from the hamartoma; however, direct surgical approaches to these lesions pose significant risks. It is proposed that the technique of radiofrequency ablation provides a minimally invasive, low-risk approach for the treatment of hypothalamic hamartomas.

Catheter Ablation↗
PubMed2000

Mesenchymal hamartomas of the chest wall in infancy: radiologic and pathologic correlation.

Mesenchymal hamartoma of the chest wall is a rare tumor with about 53 reported cases in the English literature. We reviewed six chest wall mesenchymal hamartomas in four patients, including two cases with multiple lesions, with specific focus on the radiologic and pathologic correlation. All cases occurred in neonates or infants with ages ranging from seven hours to seven months. They were diagnosed with plain chest radiographs (n=6), ultrasonography (n=2), chest CT scan (n=6), whole body bone scan (n=2) and MRI (n=3). All cases except a small one without cystic change showed the typical features of mesenchymal hamartoma radiographically and pathologically. Radiologically they were well-circumscribed masses with solid and cystic components with multiple fluid-fluid levels in association with single or multiple rib destruction or change. The CT scan showed the typical findings of chest wall hamartoma, and the MR showed heterogeneous signal intensities of the mass on T1- and T2-weighted images. The MR also revealed more concisely a secondary aneurysmal bone cyst formation with multiple fluid-fluid levels on the T2-weighted image. Microscopically, they showed alternating areas of cartilaginous islands and primitive appearing mesenchymal proliferation, which corresponded well with the solid component on the radiologic findings. The areas of bone formation and blood-filled cystic spaces matched the calcified or ossified densities and the cystic components, respectively. A small case without cystic change showed peculiar radiological and pathological findings resembling an osteochondroma. In conclusion, mesenchymal hamartoma of the chest wall in infancy is quite rare and sometimes can be misdiagnosed as malignancy due to the bone-destroying radiographic appearance and the highly cellular and mitotically active microscopic features, unless the radiologists and pathologists are aware of the characteristic clinical, radiological, and pathological findings. Imaging studies can usually make a correct diagnosis with good correlation to the pathologic findings.

Female↗
PubMed2005

Basket pattern blood flow signals discovered in a case of splenic hamartoma by power Doppler ultrasonography.

We present the gray-scale ultrasonography (GSUS), power Doppler ultrasonography (PDUS), abdominal computed tomography (CT), and magnetic resonance imaging (MRI) findings for a case of splenic hamartoma in a 27-year-old man, showing a phi 50 mm homogeneous, iso- and hypo-echoic splenic mass with evidence of a small plural cystic lesion. This splenic hamartoma showed increased vascularity on power Doppler sonograms. PDUS showed multiple circular blood flow signals inside the mass (i.e. a basket pattern), which was consistent with the small plural cystic lesion shown by GSUS. Spectral analysis also confirmed arterial and venous flow. CT scans showed that the mass had low-density relative to the normal spleen and MRI showed that the mass was isodense, relative to the normal spleen. Therefore, CT and MRI are not useful for the diagnosis of splenic hamartoma. Ultrasonography can be used to diagnose splenic hamartoma without administration of a contrast material and therefore is an indispensable method for the diagnosis of splenic hamartoma.

Adult↗
PubMed2006

Myoid hamartoma of the breast: case report and review of the literature.

Hamartoma is a mass of disorganized but mature specialized cells or tissue indigenous to the particular site. They can occur anywhere in the body, and their common sites of occurrence include lungs, skin, hypothalamus, spleen, and kidneys, of which lungs are the most common. We report a rather unusual, largely unrecognized case of myoid hamartoma of the breast. They constitute approximately 3.9%-4.8% of breast tumors. Myoid hamartomas belong to a spectrum of benign breast lesion of dual origin, containing myoepithelial and myofibroblastic components in varying proportions. They are usually asymptomatic but can present as well-circumscribed masses that do not possess specific diagnostic histologic features, and diagnosis is, therefore, difficult. In contrast to many other benign or malignant breast lesions, the diagnosis of hamartoma can easily be missed. Herein, we discuss the importance of radiologic, immunohistochemical studies and histopathologic findings in the diagnosis of a myoid hamartoma. Extensive review of the literature has been done for this purpose, and we highlight the clinical presentation and therapeutic aspects of this breast lesion.

Breast Diseases↗
PubMed2005

Nasal chondromesenchymal hamartoma in older children and adults: series and immunohistochemical analysis.

CONTEXT: Nasal chondromesenchymal hamartoma is a benign mass lesion of the nasal cavity predominantly described in young infants. These unusual lesions are composed of a proliferation of mesenchymal and cartilaginous elements. Their pathogenesis is unknown, but they may be derived from embryologic rests. To our knowledge, only 1 case in an older child has been reported, and no cases have been reported in adults. OBJECTIVE: To report 4 cases of nasal chondromesenchymal hamartoma occurring in older children and adults, including immunohistochemical analysis of these unusual lesions. DESIGN: Cases identified from our archives were examined to confirm the diagnosis of nasal chondromesenchymal hamartoma. Immunohistochemical analysis was performed using a panel of antibodies (epithelial membrane antigen, smooth muscle actin, all muscle actin, cytokeratin, S100, and KP1) to evaluate for epithelial, smooth muscle, neural, chondroid, and histiocytic differentiation. RESULTS: Four cases of nasal chondromesenchymal hamartoma in patients of 11, 69, 17, and 25 years of age demonstrated histologic evidence of mesenchymal and cartilaginous elements underlying a chronically inflamed respiratory mucosa. Bony and adipose elements and rare glandular elements were interspersed. Cartilaginous elements stained strongly with S100, whereas mesenchymal regions showed variable and weaker staining. Smooth muscle differentiation was seen primarily in the mesenchymal areas. Epithelial membrane antigen was focally positive in all cases. CONCLUSIONS: Nasal chondromesenchymal hamartomas can rarely occur in the older child and adult. Mesenchymal areas show both myofibroblastic and cartilaginous differentiation. We speculate that inflammation or a recapitulation of developmental signals may be components in the pathogenesis of these lesions.

Adolescent↗