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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↗
PubMed2005

Sporadic colonic hamartomas in adults: a retrospective study.

BACKGROUND: Colonic hamartomas are uncommon in adults. The aims of this study were to determine (1) the prevalence of colonic hamartomas in an adult population undergoing colonoscopy and (2) the clinical, endoscopic, and histologic features of colonic hamartomas in adult patients. METHODS: A pathology database identified 19 adult patients of 12,707 patients with colonic hamartomas in the 11-year study period from January 1992 to October 2002. An endoscopic computer database provided information about the number of colonoscopies performed and the presence or the absence of colonic polyp(s) in study patients. Charts of patients with colonic hamartomas were reviewed, and clinical and demographic data were collated. RESULTS: Nineteen patients were found to have colonic hamartomas. The mean age of these patients was 55 years, with an age distribution ranging from 25 to 81 years. The prevalence of colonic hamartomas in this study population was 0.15%. The prevalence of hamartomas in patients with colon polyps at index colonoscopy was 0.073%. Colonic hamartomas were more common in men than in women. The indication for colonoscopy for the majority (68%) of patients was hematochezia or the presence of occult blood in the stool. Three fourths of the polyps were greater than 1 cm in diameter, and 89% were pedunculated. Two thirds of the hamartomatous polyps were localized to the rectosigmoid region. Endoscopic characteristics of hamartomas were indistinguishable from adenomas. CONCLUSIONS: Colonic hamartomas in adults are rare. They tend to be single, pedunculated, and localized predominantly in the rectosigmoid region. Endoscopic resection of colonic hamartomas was successful in all patients.

Adult↗
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↗
PubMed1994

Mesenchymal hamartoma of the liver. DNA flow cytometric analysis of eight cases.

BACKGROUND: Mesenchymal hamartoma of the liver is a rare lesion seen predominantly in childhood, which is believed to be either a developmental anomaly or reactive process. Because of recent reports of specific translocations involving chromosome 19 in mesenchymal hamartomas and certain ultrastructural and histologic features suggesting a relationship between mesenchymal hamartoma and undifferentiated (embryonal) sarcoma of the liver, some have speculated that mesenchymal hamartoma may be a neoplastic lesion with uncertain malignant potential. METHODS: Because DNA aneuploidy can be useful as a marker for neoplasia, the authors decided to assess ploidy in paraffin embedded mesenchymal hamartomas using flow cytometry. The authors retrospectively examined mesenchymal hamartomas from eight children and evaluated the clinicopathologic features and the ploidy of the lesions. RESULTS: Boys and girls were equally affected, and the mean age at presentation was 11 months. Lesions involved predominantly the right lobe of the liver, with a range of greatest dimension of 7-25 cm, and a mean weight of 651 g (though weights for three of the largest lesions were not recorded). Flow cytometric analysis of nuclei extracted from paraffin embedded tissue revealed that six of the eight lesions were DNA diploid, whereas two were DNA aneuploid (with DNA indices of 1.13 and 1.25). All of the lesions had a low S phase fraction. CONCLUSIONS: The authors concluded that although most mesenchymal hamartomas are diploid, a subset of mesenchymal hamartomas is aneuploid. The finding of aneuploidy in mesenchymal hamartoma, in conjunction with the reported cytogenetic abnormalities, suggests that mesenchymal hamartoma may be a true neoplasm and not a developmental anomaly or reactive process.

Aneuploidy↗
PubMed1995

Isolated metastasis to a pulmonary hamartoma.

Intrapulmonary hamartomas are the most common benign pulmonary neoplasm, and malignant degeneration is exceedingly rare. Only a minority produce symptoms, and their major clinical significance is their ability to simulate a malignant pulmonary neoplasm in radiologic studies. Here we report a case of apparently localized prostatic adenocarcinoma with isolated metastasis to an intrapulmonary hamartoma. The pulmonary lesion was identified during staging and was ultimately resected. Prostatic adenocarcinoma involved the hamartoma extensively but did not involve adjacent lung tissue. The hamartoma was otherwise typical with predominantly cartilaginous differentiation. The malignant glands within the hamartoma showed strong reactivity for prostate specific antigen, excluding the possibility of malignant change within the hamartoma. To our knowledge, metastasis to a pulmonary hamartoma has not been previously reported, and this case raises several issues. The pattern of tumor spread suggests an affinity of the tumor cells for the hamartoma. The known propensity of prostatic adenocarcinoma to metastasize to osseous sites might underlie its apparent tropism for the cartilaginous milieu of a pulmonary hamartoma. Accurate pathologic staging of this patient's prostatic adenocarcinoma prevented a needless radical prostatectomy, and complete cancer staging may require histologic examination of clinically typical pulmonary hamartomas.

Adenocarcinoma↗
PubMed2003

Sonographic findings of breast hamartoma: emphasis on compressibility.

The characteristic features of hamartoma in terms of discrepancies in mammographic and sonographic shapes of the mass were evaluated. We reviewed 16 pathologically proven breast hamartomas, which had undergone preoperative mammography and ultrasonography. All masses were analyzed according to ACR-BIRADS on mammography. On sonography, each mass was analyzed for size, shape, margin, internal echogenicity, and posterior acoustic enhancement. We also analyzed the echogenicity of halo, and compared the characteristic changes in the shape of hamartomas attributable to compression in mammograms and sonograms. The most common sites were at 12 o'clock in the right breast and 2 o'clock in the left. The most common mammographic findings of the hamartomas were a round shape (11/16), a circumscribed margin (13/16), internal fat densities (D4)(16/16) and radiolucent halos (14/16). The most common sonographic findings of the hamartomas were an oval shape (16/16), circumscribed margins (10/16), heterogeneous internal echogenicity (14/16), echogenic (7/16) or echolucent halos (5/16), and posterior enhancements (12/16). The characteristic feature of hamartomas was a change of the mammographic round shape mass into an elongated oval shape mass by sonography (11/11), suggesting the compressibility of hamartomas. Three of the hamartomas contained a pathologically proven internal calcification. The presence of a hamartoma was suggested by a change in a mammographic round mass with a radiolucent halo into an oval heterogeneous mass surrounded by an echogenic or echolucent halo on the sonogram. This characteristic difference between the mammographic and sonographic findings was attributed to the hamartoma compressibility, and was associated with the over-proliferation of fat containing mature normal breast tissue.

Adult↗
PubMed1996

Pulmonary hamartomas.

OBJECTIVE: To analyze the clinical and pathologic features of biopsy-proven pulmonary hamartomas at a tertiary referral center. DESIGN: We retrospectively reviewed institutional data on pulmonary hamartomas for a 17-year study period. MATERIAL AND METHODS: The Mayo Clinic computerized medical records database was searched for patients who had biopsy, excision, or autopsy diagnosis of pulmonary hamartomas from 1976 through 1992. Medical records and all available histologic sections were reviewed. RESULTS: Of the 215 patients with histologically confirmed pulmonary hamartoma, 141 were men and 74 were women (approximately a 2:1 ratio). Two hundred eight patients were asymptomatic, 54 of whom were undergoing assessment for a comorbid disease process. Only four patients had new onset of respiratory symptoms. The peak incidence of occurrence was in the seventh decade of life. The mean size of the hamartomas were 1.5 cm (range, 0.2 to 6.0); no lobe was predominantly involved. Most hamartomas were resected by simple or wedge excision. Sixty-three patients (29.3%) had a concurrent neoplasm (most commonly, lung carcinoma). Follow-up ranged from 2 to 192 months (mean, 61). Eight postoperative deaths occurred. No recurrent pulmonary hamartomas developed. In one patient, lung carcinoma developed 33 months after excision of a hamartoma. In a second patient, sputum cytologic findings were abnormal 9 years later. A third patient had biopsy-proven adenocarcinoma metastatic to bone and an indeterminate lung nodule 2 years after resection of a pulmonary hamartoma. CONCLUSIONS: Pulmonary hamartomas are benign lung neoplasms that, in our referral population occurred most commonly in asymptomatic older men. A substantial number of our patients had concurrent neoplasms; however, many had been referred for cancer treatment. We found no evidence of either a malignant transformation or an unexplained association with other lung neoplasms.

Adult↗
PubMed1998

Hypothalamic hamartomas and gelastic epilepsy: a spectroscopic study.

BACKGROUND: Patients with hypothalamic hamartomas present with epileptic attacks of laughter and later experience multiple seizure types and cognitive decline, suggestive of secondary generalized epilepsy. It has been suggested in the past that gelastic seizures originate in the temporal lobes rather than in the hamartoma, but temporal resections have been ineffective. Recent electrophysiologic evidence suggests that the epileptogenic discharges may originate in the hamartoma itself. METHODS: We used proton magnetic resonance spectroscopic imaging to quantify the amount of neuronal damage in the temporal lobes and hamartomas of patients with hypothalamic hamartomas and gelastic seizures. Five patients were studied and the relative intensity of N-acetylaspartate to creatine (NAA/Cr) was determined for both temporal lobes as well as for the hamartoma. These values were compared with signals from the temporal lobes and hypothalami of normal control subjects. RESULTS: NAA/Cr was not significantly different from normal control subjects for either temporal lobe, nor was there a significant asymmetry between the two temporal lobes for any of the patients. NAA resonance signals were present in the hamartomas, and the ratio of NAA to Cr was decreased in the hamartomas compared with the hypothalami of normal control subjects (t = 4.5, p = 0.005). CONCLUSIONS: We found no detectable neuronal damage in the temporal lobes of patients with hypothalamic hamartomas and gelastic epilepsy. This is further evidence that gelastic seizures do not originate in the temporal lobes of these patients.

Adolescent↗
PubMed2004

Pulmonary hamartoma.

BACKGROUND: Pulmonary hamartoma is the most common type of benign lung tumors. We retrospectively reviewed the clinicopathological features of 61 patients with pulmonary hamartomas undergoing surgical resection in our institution. METHODS: From 1971 to 2002, 61 patients with 62 pulmonary hamartomas underwent surgical resection in the Division of Thoracic Surgery, Taipei Veterans General Hospital. 45 were men and 16 were women (approximately in 3:1 ratio). Their mean age was 56.9 years (range 20 to 77 years). The medical records of these patients were reviewed. The information collected using a standardized data-collection form consisted of the age at presentation, gender, initial manifestations or symptoms, history of tobacco consumption, location of hamartoma, size of the lesions, state of calcification in the hamartoma, the results of preoperative bronchoscopic examination, operative procedures and pathological report of intra-operative frozen section. All available histological slides were reviewed by the same pathologist to reconfirm the diagnosis of pulmonary hamartoma. RESULTS: Of the 61 patients with pulmonary hamartoma, 41 patients were clinically asymptomatic, 16 patients had new onset of respiratory symptoms and 4 patients had chronic cough. One patient had synchronous 2 separate lesions. The hamartomas were equally distributed in the pulmonary lobes with the mean transverse diameter of 1.8 cm measured in operation (range 0.2 to 5.0). No tumor recurrence developed after resection in our series. The mean follow-up was 8.9 years. CONCLUSIONS: The vast majority of pulmonary hamartomas represent as solitary pulmonary nodule. Definite diagnosis and the treatment can be achieved by surgical resection with minimal morbidity. No tumor recurrence was encountered in the follow-up period.

Adult↗
PubMed1994

Reappraisal of breast hamartomas. A morphological study of 41 cases.

Mammary hamartomas are breast disorders currently underestimated and not well recognized. Forty-one hamartomas diagnosed among 5,834 breast biopsies, histologically examined during the last 7 years, are reported. Hamartomas accounted for 1.2% of benign lesions and 4.8% of benign breast tumors. Clinically, hamartomas were revealed by breast palpable lump, usually painless. Typically, but inconsistently, mammography showed sharply circumscribed density, separated from adjacent normal breast by a thin radiolucent zone. Macroscopically, hamartomas were slightly larger and softer than common adenofibromas, were well limited, whitish, pinkish and fleshy, with yellow islands of fat tissue. Histologically, hamartomas exhibited pushing borders with a pseudoencapsulation, and consisted of a combination of variable amount of stromal and epithelial components. Stromal components mainly consisted in a prominent fibrohyalin feature usually associated to small islands of adipose tissue and edematous changes. Epithelial structures showed variable features of benign breast disease. The overall architecture was lobulated but not nodular. The histological diagnosis was mainly a diagnosis of exclusion and hamartomas diagnosis relies on clinical, radiological and pathological criteria. Hamartomas result more from breast dysgenesis than from tumorous process.

Adolescent↗
PubMed2006

Accelerated onsets of gastric hamartomas and hepatic adenomas/carcinomas in Lkb1+/-p53-/- compound mutant mice.

Germline mutations in the LKB1 gene are responsible for Peutz-Jeghers syndrome (PJS), which is characterized by gastrointestinal hamartomas and increasing risk of cancer. Mice with Lkb1(+/-) mutation develop gastric hamartomas after >20 weeks of age, and hepatocellular adenomas and carcinomas >30 weeks. It has been reported that, in PJS patients, carcinomas progressed from hamartomas contain p53 mutations, and that LKB1 regulates p53-dependent apoptosis. To investigate the roles of LKB1 and p53 mutations in tumorigenesis, we constructed compound mutant mice of Lkb1 and p53 genes. In the Lkb1(+/-)p53(-/-) mice, formation of gastric hamartomas and hepatic tumors was accelerated. However, histopathology of hamartomas was similar between Lkb1(+/-)p53(-/-) and Lkb1(+/-) mice, and Lkb1 genotype remained heterozygous, suggesting that the p53 mutation affected hamartoma initiation. Contrary to the heterozygous hamartomas in the stomach and duodenum, the hepatic adenomas in Lkb1(+/-)p53(-/-) mice showed loss of Lkb1 heterozygosity (LOH), suggesting that lack of p53 stimulated Lkb1 LOH and tumor initiation in the liver. Taken together, these results indicate that lack of p53 causes earlier onsets of gastric hamartomas and hepatic tumors in Lkb1(+/-)p53(-/-) mice.

AMP-Activated Protein Kinases↗
PubMedDate not supplied

Hamartoma of the breast in a man: first case report.

Mammary hamartomas were reported in 0.7% of all benign tumors of the female breast. Histologically breast hamartomas contain lobular breast tissue with various degrees of fibrous, fibrocystic, and adipose tissue. Rare types include muscular (myoid) and cartilage (chondroid) hamartomas. We report a case of muscular hamartoma in a man. A 36-year-old man was admitted to the psychiatric unit with the diagnosis of schizophrenia. The patient complained of a slowly growing mass in his left breast. He denied any discharge from the nipple, but he complained of itching. A 2 cm x 3 cm nontender mass was palpable. There was no evidence of axillary lymphadenopathy. A needle aspiration was nondiagnostic. The excisional biopsy specimen revealed fatty tissue which was edematous and hemorrhagic. Microscopically it showed multiple bundles of muscles organized randomly. Myoid hamartoma was the diagnosis. Mammary hamartoma is considered a female tumor exclusively. Myoid hamartoma has been reported previously in 25 women. We report a myoid hamartoma in a man and, to our knowledge, it is the first and only such case to be reported.

Adult↗
PubMedDate not supplied

[Hamartoma of the spleen].

Hamartoma is a rare benign lesion of the spleen. Between 140 and 150 cases seem to have been described so far. Hamartoma of the spleen may appear as a single or multiple lesions which may tend to converge. It appears in all ages, mainly in elderly persons. About 20% of patients were described in paediatric subjects. Half of the patients have no symptoms, so that hamartomas were discovered by chance at autopsy. Other 50% of patients had pain, splenomegaly, haematologic abnormalities (most frequently thrombocytopenia or pancytopenia) and spontaneous rupture with intra-abdominal bleeding. In children, hamartoma of the spleen with haematologic abnormalities may be followed by growth retardation, frequent infections, fever and night sweating. The bigger the hamartoma the greater probability to cause symptoms. The exact preoperative diagnosis is rarely established. Hamartoma has to be taken into account always when tumour of the spleen is diagnosed, particularly in children. Splenectomy is the most frequent treatment of symptomatic hamartoma of the spleen. Partial splenic resection is the preferred surgery whenever it may be carried out, particularly in children. We report a 58 year old woman with a five-year history of left subcostal and lumbar pain in whom in the lower pole of moderately enlarged spleen a tumorous mass, 107 x 75 mm in diameter, was discovered on ultrasonography. She was submitted to splenectomy as well as to cholecystectomy due to gall bladder stones. Histological findings of the spleen showed hamartoma. She had an uneventful recovery. The pain disappeared after surgery. She stayed symptom free so far.

Female↗
PubMed1997

HMB-45 and tuberin in hamartomas associated with tuberous sclerosis.

Tuberous sclerosis (TSC) is an autosomal dominant condition characterized by various hamartomas. To assess whether these hamartomas have common features, we immunohistochemically analyzed an autopsy case of TSC with subependymal giant cell astrocytoma, hamartomatous lymphangioleiomyomatosis in the lungs and uterus, and angiomyolipomas in the liver, bilateral kidneys, parametrium, and a lymph node, using the specific antibodies for tuberin (the gene product of TSC2) and HMB-45 (a monoclonal antibody specific for human melanoma). Tuberin was ubiquitously expressed in the normal organs. It was negative or very weakly expressed in the hamartomas. In contrast, HMB-45 was commonly observed in the hamartomas except for the lesions in the brain. The subependymal giant cell astrocytoma was composed of cells immunoreactive for synaptophysin, neurofilament protein, glial fibrillary acidic protein, and S-100 protein but negative for HMB-45 and tuberin. The suppression of tuberin in the brain tumor and visceral hamartomas and an abnormal expression of HMB-45 in the visceral hamartomas were observed. We conclude that the hamartomas associated with TSC have common phenotypic and etiologic expressions and that the genes responsible for both tuberin and the antigen recognized by HMB-45 have important roles in the pathogenesis of these hamartomas.

Angiofibroma↗
PubMed2001

Symptomatic splenic hamartoma with renal, cutaneous, and hematological abnormalities.

BACKGROUND: There is a rare association between splenic hamartomas and hematological abnormalities with, to our knowledge, only 24 reported cases in the English literature. PATIENTS AND METHODS: We report a case of a splenic hamartoma in a 14-year-old boy associated with membranoproliferative glomerulonephritis, multiple lobular capillary hemangiomas of the skin, hypertension, and anemia. Following imaging with ultrasonography, MRI, and nuclear scans, a hamartoma was suspected, but malignancy could not be excluded. The lesion was removed by partial splenectomy, and pathological examination confirmed the presence of a red pulp splenic hamartoma. RESULTS: The renal, hematological, and dermatological abnormalities resolved following removal of the splenic hamartoma. This is the first reported case of a splenic hamartoma associated with renal, cutaneous, and hematological abnormalities and only the second reported case of a symptomatic splenic hamartoma treated by partial splenectomy.

Adolescent↗
PubMed1997

Hamartomas in the setting of chronic epilepsy: a clinicopathologic study of 13 cases.

Hamartomas are a poorly defined group of lesions and a rare cause of chronic epilepsy. We studied 13 patients, nine males and four females, whose cause of seizures was attributed to a hamartoma. The patients ranged in age from 6 to 33 years (mean, 21 years). Seizure duration before surgery ranged from 1.5 to 22 years (mean, 10 years). Seven hamartomas were located on the right side and six on the left. Six were located in the frontal lobe, five in the temporal lobe, and two in the occipital lobe. Twelve patients underwent gross total resection of the lesion and one a partial resection. All consisted of a circumscribed, disorganized collection of glial cells, primarily astrocytes. Rarely a neuronal component was admixed. One lesion contained an increased number of small blood vessels. Eight (62%) hamartomas contained eosinophilic granular bodies, and focal microcalcification was observed in three lesions (23%). Adjacent cortical architectural abnormalities (cortical dysplasia) were identified in eight (62%) resection specimens. Necrosis, mitoses, and prominent cytological atypia were absent in all lesions. Differential diagnostic considerations include low grade astrocytoma, ganglioglioma, dysembryoplastic neuroepithelial tumor, and cortical dysplasia. Postoperatively, 10 patients (77%) had complete resolution or greater than 90% reduction of seizure frequency. Two patients (16%) developed recurrent seizures 8 and 13 months postoperatively. One patient who underwent a partial resection showed no decrease in seizure frequency. No lesion recurrence on imaging studies has been observed in the 12 patients who underwent gross total resection of their hamartoma during 1 to 51 months (mean, 14 months) follow-up. We conclude that hamartomas seen in the setting of chronic epilepsy are generally low-grade lesions that respond well to gross total resection. Circumscription and lack of significant cytological atypia help distinguish these lesions from other neoplastic causes of epilepsy. Hamartomas that arise in the setting of chronic epilepsy appear to be associated with increased incidence of cortical architectural abnormalities (cortical dysplasia) and represent maldevelopmental lesions.

Adolescent↗
PubMed1996

Breast hamartoma with invasive ductal carcinoma. Report of two cases and review of the literature.

Two cases of well-defined masses also containing clinical and radiographical abnormalities suggestive of malignancy, subsequently found to be invasive ductal carcinomas in breast hamartomas are described. The patients were 53 and 78 years old. Both presented with a generally soft palpable breast lump, containing a firm area which in one case invaded and ulcerated the skin. Mammography demonstrated two typical hamartomas: one containing a spiculated opacity, the other irregular opacities with suspicious calcifications, suggesting the presence of carcinomas in these benign lesions. The cut surface of these well-circumscribed masses measured 5 cm and 7 cm. The microscopic appearance was characteristic of breast hamartoma (sharp circumscribed "pseudocapsule" surrounding breast fibrocystic changes with variable amounts of adipose tissue) with the firm area in each case corresponding to invasive ductal carcinoma. In one case the invasive ductal carcinoma was confined to the hamartoma, whereas in the other malignant tumor, cells extended beyond the surrounding breast tissue and infiltrated the skin. These findings raise the question of secondary involvement of a hamartoma by invasive carcinoma. Breast hamartomas are probably underrecognized lesions. In our view, these findings do not justify a more aggressive approach towards the management of breast hamartomas.

Adult↗