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At least 19 recordsLinked to original sources
PubMed1998

Nasal chondromesenchymal hamartoma: an upper respiratory tract analogue of the chest wall mesenchymal hamartoma.

Nasal chondromesenchymal hamartoma is the suggested appellation for a tumefactive process of the nasal passages and contiguous paranasal sinuses in seven children with a detectable mass in the nose. With the exception of one patient who was 7 years of age at diagnosis, the others were 3 months of age or less upon recognition of the mass. Two children were diagnosed in the first 2 weeks of life. Imaging studies showed a complex solid and cystic mass or masses filling the nasal cavity and extending into the ethmoid sinuses in most cases. Erosion of the surrounding bone, including the cribriform plate, resulted in an intracranial component in the four cases. Surgical resection was the treatment of choice despite its technical difficulties that often necessitated a combined intranasal and intracranial approach. Residual disease with continued growth in one case was the clinical outcome in two children, and the remaining five patients have not experienced any further difficulties. The piecemeal fragments of tissue disclosed a collage of histologic features, but the basic morphologic elements were well-demarcated nodules of cartilage with some variation in the cellular density and maturation of the chondrocytes, a myxoid to spindle cell stroma, focal osteoclastlike giant cells in the stroma, and erythrocyte-filled spaces resembling those of the aneurysmal bone cyst. Two of the tumors were less polymorphous or complex in their spectrum of histologic features. These nasal masses have similarities to the so-called chest wall hamartoma or mesenchymal hamartoma of the chest wall in terms of the clinical presentation in infancy and the basic cartilaginous character of both entities. There is a degree of presumption in the designation of these nasal and chest wall tumors as hamartomas because the pathogenesis has not been established for either entity.

Actins↗
PubMed2004

Myoid hamartoma of the liver--a novel variant of hamartoma developing in the hilar region and imitating a malignant liver tumor.

BACKGROUND: We report here an unusual variant of hepatic mesenchymal hamartoma exhibiting a marked myoid differentiation and clinically imitating hilar malignancy. CASE REPORT: A 17-year-old patient was admitted to the hospital with the suspicion of Klatskin's tumor. Three months before he had presented with jaundice and light stools. Imaging techniques demonstrated a solid lesion (3 cm) situated in liver segment IV. Biochemical tests detected an increased level of bilirubin, alkaline phosphatase, AspAt, ALAT, and slightly increased CA19-9. Diagnosed with perihilar malignancy, the patient underwent left-sided hemihepatectomy with hepaticojejunostomy. The liver resection specimen showed an unencapsulated solid hilar tumor (5x3x3.5 cm), consisting of eosinophilic spindle-like cells with blunt-ended nuclei. Within the lesion we found numerous biliary ductules. Focally, numerous plasma cells and eosinophils were found, but no cystic spaces. There was no cellular atypia. Apart from the lesion the liver revealed intensified fibrosis of portal areas. Immunohistochemical studies demonstrated positivity of most spindle-like cells for SMActin, whereas only a few cells were CD34- and desmin-positive. Ki67 was positive in less than 5% cells. CONCLUSIONS: Given the indistinct border and heterogeneous morphology, with spindle-like myoid cells constituting most of the tissue, interspersed with biliary ductules, we suggest that this tumor is an unusual variant of mesenchymal hamartoma. As the mesenchymal component in this lesion was mainly represented by cells of muscular origin, we suggest classifying this lesion as an previously undescribed form of mesenchymal hamartoma, and propose the term, myoid hamartoma of the liver.

Adolescent↗
PubMed1985

Congenital arrector pili hamartoma. A case report and review of the spectrum of Becker's melanosis and pilar smooth-muscle hamartoma.

Congenital pigmented arrector pili hamartomas are unique malformations of epidermis and pilar apparatus usually appearing as localized, lightly pigmented, hairy plaques. Characteristic microscopic features include smooth-muscle proliferation similar to irregularly disposed arrectores pilorum, and slight elongation of epidermal rete with hypermelanosis of the basal unit. An otherwise normally developed child who had this hamartoma at birth is described in an attempt to clarify the relationship between pilar smooth-muscle hamartomas and Becker's melanosis. We propose that these two entities belong at different poles of the same developmental spectrum of hamartomatous change.

Diagnosis, Differential↗
PubMed1995

Dermal dendrocyte hamartoma with stubby white hair: a novel connective tissue hamartoma of infancy.

A previously undescribed hamartoma with stubby white hair was observed in a 1-week-old girl. A deep red, soft nodule with fine wrinkles was present on the back. White bizarre short thick hairs with irregular exterior cuticular squamae were noted. The main cells proliferating in the nodule were fibroblast-like spindle cells that had dendrites and showed positive staining for CD34 antigen. These cells surrounded vessels and nerves. In addition, there were immature hair follicles, relatively thick-walled small vessels, and small adipose cells with fine connective tissue. This hamartoma was considered to be a dermal dendritic cell hamartoma originating from CD34-positive cells.

Adipose Tissue↗
PubMed1993

Cutaneous hamartoma of adnexa and mesenchyme. A variant of folliculosebaceous cystic hamartoma with vascular-mesenchymal overgrowth.

We describe a hamartoma with folliculosebaceous and mesenchymal components. Striking vascular-mesenchymal elements distinguish this entity from previously described hamartomas and other adnexal proliferations. It is also distinct from the recently described folliculosebaceous cystic hamartoma but likely represents a variant with mesenchymal overgrowth.

Cysts↗
PubMed1996

Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas.

Hereditary hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disease (OMIM 145001) that has recently been mapped to chromosomal region 1q21-q32 (HRPT2). Here we report two families with HPT-JT syndrome in which adult renal hamartomas or cystic kidney disease were prominent associated features, possibly representing a new phenotypic variant of the HPT-JT syndrome. In the first family, renal lesions were present in five out of six affected individuals, whereas HPT and JT were seen in four and two cases, respectively. In the second family, JT was found in three of the five affected individuals and two affected members also exhibited polycystic kidney disease. The possibility of the latter cosegregating as a separate autosomal dominant gene can not be ruled out. A sex-dependent penetrance of primary HPT, resulting in predominantly male-affected cases was evident in the two families. Twenty microsatellite markers in the HRPT2 region were typed, in addition to markers in the multiple endocrine neoplasia (MEN) types 1 and 2 regions at 11q13 and 10q11. The disease in these two kindreds was linked to five markers in the 1q21-q32 region (logarithm-of-odds scores: 3.2-4.2), whereas linkage to the MEN1 and MEN2 regions was excluded. Meiotic recombinations detected in affected individuals placed the locus telomeric of D1S215, thus narrowing the HRPT2 region from > 60 to approximately 34 centimorgans. Loss of heterozygosity was studied in seven renal hamartomas from two affected individuals in the first family, as well as in a jaw tumor and a parathyroid tumor from the second family. All renal hamartomas showed loss of heterozygosity at the 1q21-q32 region. The losses invariably involved the wild type allele derived from the unaffected parent, suggesting the inactivation of a tumor suppressor gene in this region.

Adult↗
PubMed1979

Pleomorphic pulmonary hamartoma: an apparently unique variant of pulmonary hamartoma.

Pulmonary hamartomas of limited variety have been described. Most present as asymptomatic coin lesions in adults and consist of mesenchymal tissue, usually cartilage, in combination with irregular spaces lined by epithelium. Another form is found in the neonate and involves large portions or all of a lung. This is associated with a developmental aberration and is best described as a "congenital adenomatoid malformation". An apparently unique noninvasive tumor mass was resected from the lung of a middle aged man where it was associated with anomalous lung segmentation and the bronchial and blood supply to the lung. The tumor appeared to be undifferentiated by light microscopic criteria. Neurilemoma, leiomyoma, chordoid tumor, mixed tumor, and neurogenic sarcoma all entered the differential diagnosis. Ultrastructural examination demonstrated a highly complex and unique organization. Such a lesion, apparently developmental in this case, should be recognized and carefully distinguished from the malignant mesenchymal, neurogenic, and teratomatous lesions with which it may be confused. Electron microscopy may be helpful in this regard.

Adult↗
PubMed2003

Cyclooxygenase 2 expression and molecular alterations in Peutz-Jeghers hamartomas and carcinomas.

PURPOSE: Peutz-Jeghers syndrome (PJS) is a hamartomatous polyposis disorder with a high cancer risk. Debate exists about the premalignant potential of hamartomas. Also, treatment options other than surveillance are not available. Therefore, molecular alterations in hamartomas and PJS carcinomas were studied. The objective was (a) to evaluate expression of cyclooxygenase (COX)-2 as target for chemopreventive treatment and (b) to define the neoplastic potential of hamartomas at the molecular level. EXPERIMENTAL DESIGN: Paraffin-embedded samples of 24 PJS hamartomas, including 2 hamartomas with dysplastic changes, and 11 PJS carcinomas were available. Slides were stained with antibodies against COX-2, beta-catenin, cyclin D1, p21(waf1/cip1), Ki-67, and p53. DNA was studied for loss of heterozygosity (LOH) at 19p (STK11), 5q (APC), and 17p (TP53); mutations in beta-catenin, APC, and K-RAS; and microsatellite instability. RESULTS: Moderate or strong epithelial COX-2 was present in 25% of hamartomas, including two hamartomas with dysplastic changes, and 64% of carcinomas. Several hamartomas showed focal nuclear beta-catenin (18%) and cyclin D1 overexpression (29%), both unrelated to dysplasia at histological examination. Disturbed topographical expression of Ki-67 in relation to p21(waf1/cip1) was focally present in 27% of hamartomas, including those with dysplastic changes. Most carcinomas showed nuclear beta-catenin (71%), cyclin D1 overexpression (71%), and aberrant Ki-67 staining (100%). There was LOH at 19p in 32% of hamartomas and 82% of carcinomas. p53 staining was present in four (36%) carcinomas, one of which showed LOH at 17p. No beta-catenin mutations were found. APC mutations were present in two carcinomas, but LOH at 5q was not found. Two carcinomas had K-RAS mutations, and one carcinoma had microsatellite instability. CONCLUSIONS: The presence of COX-2 expression in PJS carcinomas and dysplastic hamartomas provides a rationale for chemoprevention with nonsteroidal anti-inflammatory drugs or COX-2 inhibitors. Focal immunohistochemical changes, which may indicate a premalignant potential, were present in some nondysplastic PJS hamartomas. Molecular changes in carcinomas and dysplastic hamartomas in PJS are distinct from the usual adenoma-carcinoma sequence.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMed2004

The mammary hamartoma: appreciation of additional imaging characteristics.

OBJECTIVE: To determine the mammographic and sonographic findings of hamartomas that were not classic on imaging, how pathologists distinguish the hamartoma from benign breast tissue on core samples, and reasons for discrepancies between core and surgical biopsy. METHODS: A retrospective review of all image-recommended core biopsies between 1993 and 2001 was performed. There were 41 cases of hamartomas found on either core or surgical biopsy. The mammographic, sonographic, and pathologic findings were reviewed. RESULTS: Of 41 hamartomas in 38 patients, 18 went on to surgical biopsy. Of these 18 cases, 4 cases of hamartoma on core biopsy were fibroadenoma after excision; 2 cases of hamartoma on core biopsy were confirmed by surgery; and 12 cases of fibrocystic change after core biopsy were hamartoma after surgical biopsy. The 4 cases of fibroadenoma shown at final pathologic examination were excluded from imaging review, leaving 37 cases. In the 20 patients who underwent only core sampling, 23 hamartomas were diagnosed. Seventeen masses were visible on mammography, and 82% were homogeneously dense. Of 36 masses shown on sonography, 86% were uniformly hypoechoic. At histologic examination, only 16% contained fat within the mass. CONCLUSIONS: Hamartomas may appear as homogeneously dense, well-circumscribed masses, varying in appearance from the classically described encapsulated mixed fatty-fibroglandular mass. Pathologists can make the diagnosis of hamartoma without the presence of adipose tissue but may have difficulty in distinguishing the hamartoma from fibrocystic change. However, if there is radiologic-pathologic concordance, further surgical excision is not warranted.

Adolescent↗
PubMed2004

MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases.

BACKGROUND AND PURPOSE: Reports of MR imaging in hypothalamic hamartomas associated with epilepsy are few, and the number of patients studied is small. We aimed to detail the relationship of hypothalamic hamartomas to surrounding structures, to determine the frequency and nature of associated abnormalities, and to gain insight into mechanisms of epileptogenesis. METHODS: We systematically examined MR imaging studies of 72 patients with hypothalamic hamartoma and refractory epilepsy (patient age, 22 months to 31 years). A dedicated imaging protocol was used in 38 cases. Proton MR spectroscopy of the hypothalamic hamartoma was performed for 19 patients and compared with the metabolite profile of the thalamus in 10 normal children and the frontal lobe in 10 normal adults. RESULTS: Compared with normal gray matter, hypothalamic hamartomas were hyperintense on T2-weighted images (93%), hypointense on T1-weighted images (74%), and had reduced N-acetylaspartate and increased myoinositol content shown by MR spectroscopy. Hypothalamic hamartomas always involved the mammillary region of the hypothalamus, with attachment to one or both mammillary bodies. Intrahypothalamic extension (noted in 97%) tended to displace the postcommissural fornix and hypothalamic gray matter anterolaterally, such that the hypothalamic hamartomas nestled between the fornix, the mammillary body, and the mammillothalamic tract. Larger hamartoma size was associated with central precocious puberty. Associated findings of questionable epileptic significance included anterior temporal white matter signal intensity abnormalities (16%) and arachnoid cysts (6%). Malformations of cortical development were observed in only two patients, and hippocampal sclerosis was not observed. CONCLUSIONS: Hypothalamic hamartomas can be readily distinguished from normal hypothalamic gray and adjacent myelinated fiber tracts, best appreciated on thin T2-weighted images. MR imaging and spectroscopy suggest reduced neuronal density and relative gliosis compared with normal gray matter. Associated epileptogenic lesions are rare, supporting the view that the hypothalamic hamartoma alone is responsible for the typical clinical features of the syndrome. The intimate relationship to the mammillary body, fornix, and mammillothalamic tract suggests a role for these structures in epileptogenesis associated with hypothalamic hamartomas.

Adolescent↗