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PubMed1984

Hamartomas of the spleen.

A study of 12 cases of splenic hamartomas, rare benign lesions of the spleen, included one case of spontaneous rupture of a hamartoma that required emergency operation and two cases of hamartomatosis with splenomegaly. An increased incidence of accessory spleens was also noted. Therefore, although rarely symptomatic, hamartomas may occasionally be of clinical importance. Surgeons should be aware of these lesions in the differential diagnosis of splenic tumors that appear as filling defects on scintiscan or as splenic masses on abdominal exploration. Since it may also be a source of spontaneous splenic rupture, it should be considered as one of the rare causes of such an occurrence.

Adult↗
PubMed1990

Mesenchymal hamartoma of the liver. A 35-year review.

Mesenchymal hamartoma of the liver occurs almost exclusively in infancy and childhood, with approximately 140 total cases reported. We report the experience with 18 patients at the Childrens Hospital of Los Angeles (Calif) during the past 35 years. The charts of all patients with mesenchymal hamartoma were retrospectively reviewed. The mean age at presentation was 16 months. Thirteen patients were symptomatic, presenting with increasing abdominal distention. Physical examination revealed an abdominal mass or hepatomegaly. Ultrasonography and computed tomography were the most useful diagnostic tests. Fourteen patients underwent resection; 9 underwent hepatic resection and 5 underwent excision of the tumor only. One patient had marsupialization, 1 underwent a biopsy only, and 2 died of unrelated causes and the hamartoma was found incidentally at autopsy. In all instances, a large cystic mass with well-demarcated margins was found. Three patients were unavailable for follow-up and 13 patients were alive and well 1 month to 24 years (mean, 5 years) after diagnosis. Recurrence or malignant transformation was not noted. A presumptive diagnosis can be made preoperatively by normal laboratory values and a combination of ultrasonography and computed tomography. We recommend excision of the tumor in all patients once the diagnosis is made, with the expectation of complete recovery.

California↗
PubMed1997

Bronchopulmonary-foregut malformations: a continuum of paracrine hamartomas?

The bronchopulmonary-foregut malformations (BPFM) are usually sporadic, solitary cystic hamartomas involving conducting airways, arteries, venous drainage, and lung parenchyma. Transitional, compound hamartomas exist, and only their morphology is well-known. Between 1984-1994 we encountered and studied 10 unrelated patients and a stillborn infant with BPFM (out of 24,000 families). Ten were diagnosed in utero and one at birth as having congenital cystic adenomatoid malformation of the lung (CCAML). Postnatally, two diagnoses (20%) were corrected to bronchogenic cyst (BC) and diaphragmatic hernia, respectively. Bilateral lung involvement was present in 1 patient, and in 2 there was a considerable macroscopic regression of the hamartoma. Histologic studies of the six resected CCAML confirmed the diagnosis and implied dysregulated paracrine growth with its cellular and extracellular growth factors, protooncogenes, oncogenes, cytokines, cell-adhesive molecules, and receptors of these regulatory peptides, and their complex interactions as developmental morphogens in time and space.

Digestive System↗
PubMed1999

Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence.

Patients with Peutz-Jeghers' syndrome (PJS) develop hamartomatous gastrointestinal polyps and characteristic pigmentation, as a result of germline mutations in the LKB1 gene. The hamartomas in PJS were long considered to be without malignant potential. There is, however, accumulating epidemiological evidence to suggest that PJS predisposes to cancers at several different sites (colon, pancreas, breast, ovary, testis, and cervix), although large enough patient samples are rarely available to prove this. Allelic imbalance [allele loss, loss of heterozygosity (LOH)] has previously been reported in a small number of PJS polyps, suggesting that LKB1 acts as a tumour suppressor in these tumours. This study confirms allelic loss at LKB1 in PJS polyps and shows that LOH also occurs in cancers of the colon, breast, and cervix in PJS patients. Allele loss was additionally found in a colonic adenoma from a PJS patient, strongly suggesting the existence of a hamartoma-(adenoma)-carcinoma sequence in tumourigenesis. These results provide molecular evidence that PJS patients are predisposed to cancers at several sites, as a direct result of selection for loss of the 'wild-type' LKB1 allele in tumours. Given the rare involvement of LKB1 in sporadic cancers, these data also suggest that the indirect effect on cancer risk (or 'bystander effect') proposed for hamartomas in juvenile polyposis does not apply to carcinomas in PJS.

AMP-Activated Protein Kinase Kinases↗
PubMed1984

Pulmonary hamartoma. An ultrastructural study.

Three so-called pulmonary hamartomas were studied by electron microscopy. Histologically, the hamartomas included one case with mainly mature cartilage (chondroma), one with loose myxoid fibrous tissue and rare areas of mature cartilage, and one with only loose myxoid fibrous tissue. Ultrastructurally, a common feature in all three cases was the presence of stellate, undifferentiated mesenchymal cells. These cells were sparse in the chondroma, and abundant in the other two cases. Areas of transition between undifferentiated mesenchyme and cartilage were present in two cases (the chondroma and the myxoid fibrous tumor with areas of mature cartilage). Unusual stellate smooth muscle cells were present in areas of loose myxoid tissue. The epithelial components revealed continuity and morphologic identity to terminal bronchiolar and alveolar epithelium. A distinct basement membrane was always present. These observations support the concept that pulmonary hamartomas represent a histologic spectrum of benign mesenchymal neoplasms, which originate in peribronchial connective tissue and incorporate respiratory epithelium as they expand.

Aged↗
PubMed1992

Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form.

We report on congenital hypothalamic hamartomas, discovered at autopsy in 3 unrelated fetuses. In the first 2 patients, the tumor was associated with skeletal dysplasia only. In the third patient, it was part of a non-random congenital malformation association, suggestive of Meckel syndrome. In one family, a previous boy died soon after birth with similar craniofacial and skeletal abnormalities. As far as we know, the association between isolated skeletal dysplasia and congenital hypothalamic hamartomas has not yet been documented in the literature. Nevertheless, a spectrum of skeletal abnormalities has been described in association with congenital hypothalamic "hamartoblastoma" and a constellation of variable visceral malformations under the eponym of "Pallister-Hall syndrome" (PHS). A detailed analysis of the PHS reported cases shows that only skeletal dysplasia and oro-facial abnormalities are present constantly. They show similarities with those found in our first 2 cases. These findings prompt us to consider skeletal dysplasia and oro-facial abnormalities as common denominator and minimum criteria required to define a nosologically distinct, possibly familial entity, which we suggest calling "congenital hypothalamic hamartoma syndrome" (CHHS).

Bone Diseases, Developmental↗
PubMed2006

Can hamartoma of the breast be distinguished from fibroadenoma using fine-needle aspiration cytology?

In an attempt to determine if it is possible to distinguish hamartoma of the breast from fibroadenoma using fine-needle aspiration cytology, we reviewed the cytological slides of 13 histopathologically confirmed cases of hamartoma of the breast and compared them with the cytological features of 13 histologically confirmed fibroadenomas. In each case, we studied the epithelial and stromal features. Cytologic characteristics were retrospectively evaluated in a semiquantitative manner. In conclusion, the finding of intact lobular units and a relative paucity of stroma may suggest the diagnosis of hamartoma.

Adolescent↗
PubMedDate not supplied

Testicular hamartomas in Cowden disease.

We report a case of testicular hamartomas in association with Cowden disease. Clinical examination of the patient, a 39-year-old man, revealed a palpable mass in the right side of the scrotum. Sonographic examination showed that the mass was either a spermatocele or an epididymal cyst and that multiple hyperechoic lesions were present in both testes. On subsequent MRI, the appearance of these lesions was consistent with that of fat-containing hamartomas. Testicular biopsy was not performed, but follow-up serial sonographic examination was recommended. To our knowledge, this report is the first to describe testicular hamartomas as a probable manifestation of Cowden disease.

Adult↗
PubMed2001

Endosonographic appearances of Brunner's gland hamartomas.

Brunner's gland hamartoma is an uncommon intestinal tumor, most frequently located in the duodenal bulb. We report the endoscopic sonographic (EUS) appearances in 2 cases of Brunner's gland hamartoma. In 1 case, EUS revealed a heterogeneous hypoechoic pedunculated mass, 1.7 cm in diameter, arising from the mucosal and submucosal layers of the wall of the duodenal bulb. Multiple anechoic large and small cystic areas were demonstrated in the tumor. In the other case, EUS revealed a 1.4- x 0.9-cm pedunculated mass with an echogenicity higher than that of the muscular layer and lower than that of the mucosa, arising from the submucosal layer of the duodenal bulb wall. Multiple small anechoic areas were demonstrated in the tumor. We believe that both EUS patterns are typical for Brunner's gland hamartomas.

Brunner Glands↗
PubMed2004

Splenic hamartoma: presentation on contrast-enhanced sonography.

Splenic hamartoma is a rare benign tumor of the spleen. It is usually found incidentally at autopsy or splenectomy. We report a case of splenic hamartoma that was discovered during medical workup for vague upper abdominal pain. Abdominal sonography demonstrated a well-demarcated, slightly hypoechoic splenic solid mass; the mass was markedly enhanced on color Doppler sonography after injection of microbubble contrast agent. This finding may help to distinguish splenic hamartomas from other relatively common splenic tumors, such as hemangiomas or metastases.

Contrast Media↗
PubMed1983

Nasopharyngeal hamartoma: report of a case and review of the literature.

The uncommon benign developmental malformation, nasopharyngeal hamartoma, is reported with a review of the literature. Nasopharyngeal hamartoma can be divided into two types based on the histologic presentation. A more common type is composed predominantly of mesodermal tissues while a less common type, as reported in this study, is composed of a spectrum of mucosal epithelial, serous/mucinous gland, and stromal elements. Four additional cases of this less common type of nasopharyngeal hamartoma were found in the literature and are discussed with reference to age, sex, presenting symptoms, location, size, and histology.

Adult↗
PubMed1993

Mesenchymal hamartoma of the chest wall in infants and children: a clinicopathological study of five patients.

Mesenchymal hamartoma of chest-wall is a rare benign lesion that has varied histological characteristics and usually occurs during early infancy. We report the histological characteristics of mesenchymal hamartoma found in five patients aged respectively 25 days, 5 months, 8 months, and 4 and 8 years at presentation. Two patients presented with respiratory distress, two with an asymptomatic chest-wall mass, and one with a deformity of the left chest wall. Surgical resection was performed on four patients and a biopsy only in one patient. Overall, the tumors were well delineated, lobulated, tan to reddish in color, and on section showed blood-filled cystic spaces with interspersed small islands of cartilage and fibrous tissue. Histological analyses demonstrated mixtures of bone trabeculae with spindle-cell stroma, chondroblast-like proliferation, mature and immature hyaline cartilage, and aneurysmal bone cyst formation. All patients are alive and well without evidence of disease. Despite the alarming clinical and histologic presentation, mesenchymal hamartoma of the chest wall is a non-neoplastic benign lesion.

Child↗
PubMed1996

Liver hamartoma in an adult: report of a rare case.

Liver hamartoma is a rare type of benign tumor which usually occurs in the first few years of life. Although it is the second most common benign tumor in childhood, only about 100 cases have been reported in the English literature. Thus, it is extremely rare to encounter liver hamartoma in adults. This report details the clinical presentation and surgical management of a 24-year-old woman with a rapidly growing liver hamartoma. A right hepatic lobectomy was successfully performed and the patient was discharged in good health on the 10th postoperative day.

Adult↗
PubMed1985

Atypical lipomatous hamartoma of the lung.

An unusual lipomatous tumour discovered accidentally in the right middle lobe of a 34-year old woman is described. The tumour was associated with an intrapulmonary typical chondromatous hamartoma in the same lobe but separate from the first lesion. The lipomatous tumour was primarily an intrapulmonary lipoma but in a few of the numerous sections made minute islands of cartilage and bone were discovered along with a few epithelial-lined clefts. These justify the diagnosis of a lipomatous hamartoma. Dispersed among the mature fat cells were a few immature cells with atypical nuclei. Cellular atypia in predominantly lipomatous hamartomas has not previously been reported. As the occurrence of atypical lipoblast-like cells might lead to an erroneous diagnosis of liposarcoma, this case is thought worthy of reporting.

Adult↗
PubMed1989

Hamartoma of the spleen with haematological symptoms.

We report the case of a 29 year old male patient with a splenic hamartoma suffering from infections, anaemia and thrombocytopenia. Shortly after surgical removal of the tumour the blood cell count was within normal range. Hamartomas of the spleen are rare benign tumour-like lesions composed mainly of vascular elements. Most of them remain small in size and asymptomatic and are therefore incidental findings at laparotomy or autopsy. However, occasionally they present with symptoms, among which haematological disturbances appear in very few cases; only 16 cases of splenic hamartomas with haematological symptoms are described in the literature. The major symptoms were anaemia and/or thrombocytopenia as well as frequent infections. After removal of these lesions the symptoms disappeared.

Adult↗
PubMed1994

Multiple pulmonary hamartomas: report of a case.

Among lung tumors, multiple hamartomas are uncommon while multiple chondromatous hamartomas are extremely rare, with only 12 cases having been previously reported. A case of multiple pulmonary chondromatous hamartomas in a 58-year-old Japanese man who has been followed up for 28 years is herein presented.

Follow-Up Studies↗
PubMed1995

A super long-acting LH-RH analogue induces regression of hypothalamic hamartoma associated with precocious puberty.

We treated a 1-year-old female with a hypothalamic hamartoma and precocious puberty with leuprolide acetate depot, a super long-acting hormone-releasing hormone analogue (Tap-144-SR; [D-Leu6-[des-Gly10-NH2] LH-RH ethylamide acetate). The infant's major symptoms were genital bleeding and gynaecomastia. The LH-RH analogue (30 micrograms/kg) was injected subcutaneously once every 4 weeks. Clinical and laboratory manifestations of precocious puberty showed marked improvement. A follow-up after 16 months of treatment, the size of the tumour decreased significantly and remained unchanged for 2 years of further follow-up. To the best of our knowledge, this is the first hypothalamic hamartoma case in whom a decrease of tumour size under treatment with LH-RH analogue has been documented. But, because diagnosis of hamartoma is only based on neuroradiological and not on histological examinations, the possibility of a gangliocytoma cannot be excluded with certainty.

Delayed-Action Preparations↗
PubMed1989

Splenic hamartoma: report of a case and review of the literature.

A 39-year-old Japanese man with a splenic hamartoma who underwent surgery, is reported herein. The patient had a volvulus of the transverse colon and acute Type A hepatitis. His symptoms included fever, abdominal pain and icterus and the serum chemistry showed liver dysfunction and an elevation of hepatitis A antibody levels. Barium enema revealed a volvulus of the transverse colon. Ultrasonogram showed a hypoechoic mass and angiogram showed evidence of stretching of the intrasplenic vessels in the arterial phase and a hypovascular mass lesion in the venous phase. Macroscopically, the tumor was a well-defined, whitish-yellow, hard nodule. Microscopically, the tumor was composed of fibrous scar tissue containing scattered red pulp tissues and the histologic diagnosis was a splenic hamartoma of the fibrous type. The patient's postoperative recovery was uneventful. The clinical features of splenic hamartoma are reviewed in this report and the differential diagnosis is also discussed.

Adult↗