Papillary thyroid carcinoma with desmoid-type fibromatosis: A clinical, pathological, and immunohistochemical study of 14 cases.

Papillary thyroid carcinoma (PTC) with desmoid-type fibromatosis (DTF) is characterized by genetic alterations of the fibroblasts. PTC-DTF is extremely rare, and the reports on such cases have been sporadic. Immunohistochemical staining using the antibody for beta-catenin is useful in diagnosing the variant. This report aims to describe the clinical, pathological, and immunohistochemical findings in 14 cases of PTC-DTF and to clarify the diagnostic significance of the variant. The patients included 9 women and 5 men, with a mean age of 49.3 years. PTCs with focal DTF components and with extensive DTF components included 7 cases each. No significant differences were noted in terms of age, gender, and serum thyroglobulin levels between extensive and focal DTF cases. On aspiration cytology, 12 cases were reported as suspicious for malignancy or malignant, and schwannoma or fibroma was suggested in 1 case each. The DTF components were histologically classified into 4 types, namely, central (4 cases), peripheral (1 case), mixed (7 cases), and diffuse type (2 cases). The stromal components were consistent with those of DTF. Immunohistochemically, fibroblasts in the DTF components showed nuclear and cytoplasmic expression for beta-catenin in 12 cases. The features are observed even in cases in which stromal components focally exist. Neither carcinoma cells nor the fibroblasts with Ki-67 labeling index >5% were found in all cases. We agree that PTC with nodular fasciitis-like stroma should be renamed to PTC-DTF.

Pachydermodactyly: A Case Report Including Histopathology.

Pachydermodactyly (PDD) is a rare form of digital fibromatosis characterized by painless soft tissue swelling, primarily about the proximal interphalangeal joints. The skin at the metacarpophalangeal joints, the palm, and the dorsum of the hand may also be involved. Because swelling can occur over the proximal interphalangeal and metacarpophalangeal joints, PDD may be confused with juvenile inflammatory arthropathy and may even occur concurrently. We present the clinical and histopathologic findings of a case of PDD characterized by bilateral proximal phalangeal involvement of the index through little fingers.

Pachydermodactyly: An Unknown Entity.

Pachydermodactyly is a rare benign disease that usually affects the dorsal skin and subcutaneous tissue of the proximal interphalangeal joints of the index, middle, ring, and little fingers; the thumb is usually spared. Hyperkeratosis on the dorsal side of the affected areas is common. We present a case of a 19-year-old man who was diagnosed with pachydermodactyly after evaluation of a painless, progressive swelling and hyperkeratosis at the proximal interphalangeal and distal interphalangeal joints of all fingers, bilaterally, for 6 years before presentation. Conservative treatment was prescribed and the patient remains asymptomatic. Given the benign and nonprogressive course of the disease, symptomatic treatment alone is all that is usually required.

Fibromatosis of infratemporal space.

Fibromatosis is a rare benign mesenchymal neoplasm which primarily originates in the muscle, connective tissue, fascial sheaths, and musculoaponeurotic structures. It is commonly seen as abdominal tumour but in maxillofacial region, the occurrence of these tumours is very rare and exceedingly rare in infratemporal space. Often misdiagnosed due to its varied clinical behaviour, fibromatosis is benign, slow-growing, infiltrative tumour without any metastatic potential, but is locally aggressive causing organ dysfunction along with high recurrence rate. We report a case of fibromatosis involving the left infratemporal space in a 35-year-old female who presented with chief complaint of limited mouth opening for the preceding 4 years.

[Successful excision of a left ventricular fibroma in an adult patient; report of a case].

A 55-year-old man was referred with a diagnosis of a left ventricular thrombus. Echocardiography revealed that he had a thrombus in the free wall of the left ventricle. Under cardiopulmonary bypass, we removed the intramural tumor. After the removal, the defect was repaired by Dor operation. Pathological examination revealed the tumor was a cardiac fibroma. He is doing well without any troubles 3 years after the operation.

Acquired reactive digital fibroma: a clinicopathologic report of 5 cases of a new entity.

BACKGROUND: Fibroblastic proliferations in the dermis comprise a heterogeneous group of disorders that can pose diagnostic challenges. OBJECTIVE: We sought to study the clinicopathologic features of this tumor. METHODS: We reviewed the clinicopathologic features of 5 unusual mesenchymal tumors of the digits that, to our knowledge, correspond to an entity not previously described. RESULTS: The patients were 5 men. All cases were located in the digits and were associated with history of trauma. Histopathologically, the neoplasms were located mainly in the reticular dermis. The tumors consisted of solitary nodules composed of fascicles of benign-appearing spindle cells devoid of cytologic atypia. The spindle cells formed short fascicles arranged in a haphazard manner. On immunohistochemistry, the tumor cells expressed vimentin and in 2 cases, CD34. The tumor cells were negative for smooth muscle actin (SMA), desmin, h-caldesmon, epithelial membrane antigen (EMA), S100, CD68, CD99, and beta-catenin. LIMITATIONS: Only 5 cases were studied. CONCLUSIONS: Awareness of this entity is of importance to avoid misdiagnosis with other conditions. Based on the immunohistochemical pattern, we believe that these tumors are fibroblastic in origin. The peculiar gross appearance and location of the lesions is clinically quite distinctive and may lead to confusion with other neoplastic and reactive processes.

Painful nodules and cords in Dupuytren disease.

PURPOSE: The etiology of Dupuytren disease is unclear. Pain is seldom described in the literature. Patients are more often disturbed by impaired extension of the fingers. We recently treated a series of patients who had had painful nodules for more than 1 year, and we therefore decided to investigate them for a possible anatomical correlate. METHODS: Biopsies were taken during surgery from patients with Dupuytren disease and stained to enable detection of neuronal tissue. RESULTS: We treated 17 fingers in 10 patients. Intraoperatively, 10 showed tiny nerve branches passing into or crossing the fibrous bands or nodules. Of 13 biopsies, 6 showed nerve fibers embedded in fibrous tissue, 3 showed perineural or intraneural fibrosis or both, and 3 showed true neuromas. Enlarged Pacinian corpuscles were isolated from 1 sample. All patients were pain free after surgery. CONCLUSIONS: Although Dupuytren disease is generally considered painless, we treated a series of early stage patients with painful disease. Intraoperative inspection and histological examination of tissue samples showed that nerve tissue was involved in all cases. The pain might have been due to local nerve compression by the fibromatosis or the Dupuytren disease itself. We, therefore, suggest that the indication for surgery in Dupuytren disease be extended to painful nodules for more than 1 year, even in the early stages of the disease in the absence of functional deficits, with assessment of tissue samples for histological changes in nerves.

Cardiac tumours in infancy.

Cardiac tumours in infancy are rare and are mostly benign with rhabdomyomas, fibromas and teratomas accounting for the majority. The presentation depends on size and location of the mass as they tend to cause cavity obstruction or arrhythmias. Most rhabdomyomas tend to regress spontaneously but fibromas and teratomas generally require surgical intervention for severe haemodynamic or arrhythmic complications. Other relatively rare cardiac tumours too are discussed along with an Indian perspective.

Surgical considerations for large asymptomatic cardiac fibromas in the context of fatal ventricular arrhythmias.

Cardiac fibromas are rare intracardiac neoplasms but represent the most common resectable tumours of childhood. They can remain asymptomatic for extended periods of time but a pertinent and unpredictable risk of sudden cardiac death and fatal ventricular arrhythmia always exists even in asymptomatic patients. We report a case of an asymptomatic two month-old with cardiac fibroma who presented with a ventricular tachycardia (VT) arrest. Here, we discuss management of cardiac fibroma in the context of occurrence of sudden VT.

Proliferative fasciitis: A rare cause of disturbances in an adolescent hand.

We report a case of hand soft tissue tumor-proliferative fasciitis (PF)-in a 12-year-old patient that presented as a painful lump causing trigger finger. After meticulous diagnostic workup, a surgical excision led to immediate amelioration of symptoms. PF is a rare benign pseudosarcomatous lesion arising typically in the subcutaneous tissue and fascia in adults. It is very uncommon in the hand. To the best of our knowledge, this is the first report of a trigger finger being caused due to this pathology. In this report, the authors review PF lesions on hands, advice careful evaluation of magnetic resonance imaging features, and recommend surgical management.

Microinjection of Ca++-calmodulin causes a localized depolymerization of microtubules.

The microinjection of calcium-saturated calmodulin into living fibroblasts causes the rapid disruption of microtubules and stress fibers in a sharply delimited region concentric with the injection site. This effect is specific to the calcium-bearing form of calmodulin; neither calcium-free calmodulin nor calcium ion at similar levels affects the cytoskeleton. If cells have previously been microinjected with calcium-free calmodulin, elevation of their intracellular calcium levels to 25 mM potentiates the disruption of microtubules throughout the cytoplasm. Approximately 400 mM free calcium is required to cause an equivalent disruption in uninjected cells. The level of calmodulin necessary to disrupt the full complement of cellular microtubules is found to be approximately in 2:1 molar ratio to tubulin dimer. These results indicate that calmodulin can be localized within the cytoplasm in a calcium-dependent manner and that it can act to regulate the calcium lability of microtubules at molar ratios that could be achieved locally within the cell. Our results are consistent with the hypothesis that calmodulin may be controlling microtubule polymerization equilibria in areas of high local concentration such as the mitotic spindle.

GNAS haploinsufficiency leads to subcutaneous tumor formation with collagen and elastin deposition and calcification.

INTRODUCTION: The heterotrimeric G protein alpha-subunit G(s)alpha links receptors to stimulation of cAMP/protein kinase A signaling, which inhibits skin fibroblast proliferation and collagen synthesis. We now describe the development of fibrous tumors in mice with heterozygous disruption of the Gnas gene, which encodes G(s)alpha and other gene products. METHODS AND RESULTS: Disruption of Gnas exon 2 on either the maternal or paternal allele (Gnas(E2-/+)) results in fibromas or angiofibromas on the ears, paws and tail beginning at 4 months of age. The tumors were composed of fibroblastic cell proliferation with collagen and elastin deposition and calcification, and seemed to be associated with mechanical skin damage. The presence of calcification was associated with greater amounts of matrix metalloproteinase-2, suggesting an association between calcium deposition and extracellular matrix degradation. Osteoblast-specific markers were absent, consistent with the calcification not being secondary to ossification. Molecular studies showed that the tumors were not associated with deletion of the wild-type allele, making it unlikely that these tumors resulted from homozygous loss of G(s)alpha. CONCLUSIONS: These findings provide in vivo evidence that G(s)alpha pathways inhibit fibroblast and endothelial proliferation and matrix deposition.

Hormone-dependent gynaecological disorders: a pathophysiological perspective for appropriate treatment.

Hormonal changes are involved in several gynaecological disorders. Correct functioning of the hypothalamus-pituitary-ovarian (HPO) axis is critical for ovulatory function, as well as the growth and differentiation of uterine tissue (myometrium and endometrium). However, the correct functioning of other endocrine glands (thyroid, adrenal cortex, pancreas) is also crucial for correct reproductive function. Genes and environmental factors have an influence on women's fertility through their effect on hormonal function. Consequently, dysfunction of the HPO axis and/or other endocrine systems may cause infertility and gynaecological disorders. The pathogenetic basis can be used to help make the correct clinical decision for treating these diseases. Disturbances related to the menstrual cycle, i.e. amenorrhoea, polycystic ovary syndrome (PCOS) and premenstrual syndrome (PMS), have a close correlation with hypo- or hypersecretion of hormones of the HPO axis. The roles of hypothalamic neurohormones and neurotransmitters in the various forms of amenorrhoea and PMS are well established. PCOS has a complex endocrine/metabolic origin, so a variety of hormonal treatments have been proposed. Hormone derangement has also been proposed as the cause of endometriosis and uterine fibroids. These disorders do not have hyper- or hyposecretion of reproductive hormones, but hyperactivity of oestrogen receptors coupled with a genetic predisposition. The relevance of the endocrine changes is confirmed by the clinical effectiveness of hormonal treatments. In order to establish the correct treatment approach in gynaecological disorders, it is important to understand the endocrine pathophysiology.

Recurrent solitary fibrous tumor of the falx cerebri with intraventricular extension: case report.

A 61-year-old male presented with a recurrent solitary fibrous tumor (SFT) arising from the falx cerebri with intraventricular extension manifesting as nausea and vomiting. Magnetic resonance imaging showed the heterogeneously enhanced tumor in the falx, which extended to the bilateral lateral ventricles and the third ventricle. Total tumor removal was performed via the bifrontal interhemispheric approach. Histological examination showed mostly spindle cells with rich intercellular fibers. Immunohistochemical examination showed strong staining for CD34 in the cytoplasm but no staining for epithelial membrane antigen. Reexamination of the two previous tumor specimens, previously identified as fibrous meningioma, found SFT. The differential diagnosis of SFT in the central nervous system from fibrous meningioma and hemangiopericytoma requires immunohistochemistry and electron microscopy.

[Clinical diagnostics of papillary fibroelastoma].

Papillary fibroelastoma (PFE) is a benign heart tumor, the diagnosis of which is difficult. Clinical manifestations of PFE are non-specific and scarce, and for this reason the tumor is often revealed during a heart surgery of an autopsy. PFE affects patients of all ages from neonates to 96-year-old ones and is often localized on valvular cusps, although vegetations may appear on other intracardiac structures. The histogenesis of the tumor is unclear; there are several theories of PFE origin (hemodynamic effects on the myocardium, viral theory, iatrogenic theory etc.) Macroscopically the tumor is small size, villous, whitish-grey, consists of a pedicle and villi of gely-like soft or dense-elastic consistence. The mobility of the tumor and the fragmentation of its tissue lead to its main complications such as obstruction of cardiac cameras (in-flow and out-flow disorders) and embolic syndrome in various basins (the brain, coronary arteries, the eye, the kidneys, and the lungs). The diagnosis of PFE is made using EchoCG, preferably transesophageal one. Treatment of PFE is surgical and consists of tumor or cusp removal. PFE should be differentiated from other benign and malignant heart tumors, infective endocarditis, heart echinococcosis, coronary artery disease, and cerebrovascular diseases.

Biology and Treatment of Aggressive Fibromatosis or Desmoid Tumor.

Aggressive fibromatosis, also known as desmoid-type fibromatosis (DTF) or desmoid tumor, is an uncommon locally invasive tumor. Because of its low incidence and variable behavior, DTF is often first seen by physicians who are not familiar with it, and recent advances in understanding this disease have led to changes in treatment approaches. The Wnt (ß-catenin) pathway appears to play a key role in DTF pathogenesis, and recent studies of DTF biology suggest a possible model of DTF pathogenesis. Histologically, DTF shows a poorly circumscribed proliferation of myofibroblast-like cells with variable collagen deposition, similar to the proliferative phase of wound healing, and DTF has been associated with trauma and pregnancy. Desmoid-type fibromatosis may be a useful model of the tumor stroma in carcinomas as well as other fibrosing diseases such as progressive pulmonary fibrosis. The clinical course of DTF can vary greatly among patients, complicating the determination of the optimal treatment approach. Treatment options include surgery, nonsteroidal anti-inflammatory drugs with or without hormonal manipulation, chemotherapy, radiation therapy, and other forms of local therapy. Many treatments have been used, but these are not without toxicities. Because of the variable nature of the disease and the potential morbidity of treatment, some cases of DTF may do better without treatment; simple observation is often the best initial treatment. This review used a PubMed search from January 1, 1980, through October 31, 2016, using the terms fibromatosis and desmoid and discusses DTF disease characteristics, pathophysiology, and treatment options as well as examines several cases illustrating key points in the biology and treatment of this heterogeneous disease.