Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene.

Desmoid tumors are slowly growing fibrous tumors highly resistant to therapy and often fatal. Here, we report hereditary desmoid disease (HDD), a novel autosomal dominant trait with 100% penetrance affecting a three-generation kindred. Desmoid tumors are usually a complication of familial adenomatous polyposis, a predisposition to the early development of premalignant adenomatous polyps in the colorectum due to chain-terminating mutations of the APC gene. In general, one or more members in approximately 10% of the FAP families manifest desmoid tumors. Affected individuals from the HDD kindred are characterized by multifocal fibromatosis of the paraspinal muscles, breast, occiput, arms, lower ribs, abdominal wall, and mesentery. Osteomas, epidermal cysts, and other congenital features were also observed. We show that HDD segregates with an unusual germ-line chain-terminating mutation at the 3' end of the APC gene (codon 1924) with somatic loss of the wild-type allele leading to tumor development.     

Repeated loss of frontal sinuses in arctoid carnivorans

Many mammal skulls contain air spaces inside the bones surrounding the nasal chamber including the frontal, maxilla, ethmoid, and sphenoid, all of which are called paranasal sinuses. Within the Carnivora, frontal sinuses are usually present, but vary widely in size and shape. The causes of this variation are unclear, although there are some functional associations, such as a correlation between expanded frontal sinuses and a durophagous diet in some species (e.g., hyenas) or between absent sinuses and semiaquatic lifestyle (e.g., pinnipeds). To better understand disparity in frontal sinus morphology within Carnivora, we quantified frontal sinus size in relationship to skull size and shape in 23 species within Arctoidea, a clade that is ecologically diverse including three independent invasions of aquatic habitats, by bears, otters, and pinnipeds, respectively. Our sampled species range in behavior from terrestrial (rarely or never forage in water), to semiterrestrial (forage in water and on land), to semiaquatic (forage only in water). Results show that sinuses are either lost or reduced in both semiterrestrial and semiaquatic species, and that sinus size is related to skull size and shape. Among terrestrial species, frontal sinus size was positively allometric overall, but several terrestrial species completely lacked sinuses, including two fossorial badgers, the kinkajou (a nocturnal, arboreal frugivore), and several species with small body size, indicating that factors other than aquatic habits, such as space limitations due to constraints on skull size and shape, can limit sinus size and presence. J. Morphol. 276:22–32, 2015. © 2014 Wiley Periodicals, Inc.     

Fibromatoses desmoïdes: étude immunohistochimique de 14 cas sur tissue microarray (TMA)

Background/aim

Desmoid fibromatosis are rare, benign but locally aggressive tumors, characterized by an infiltrative growth and a tendency towards local recurrence, but an inability to metastasise. The morphological diagnosis may be difficult, requiring immunohistochemistry. The aim of our study is to determine the im munohistochemical phenotypes of these tumours to evaluate if they are helpful and to define a diagnostic strategy.

Methods

Immunohistochemistry was used to examine the expression of β-catenin, APC protein, in archival material derived from fourteen cases of extraabdominal desmoid tumors. Desmoids specimens were assembled into a clinical data-linked tissue micro — array. Nuclear β-catenin expression was observed in 100% of the specimens. Positive cytoplasmic staining for APC protein was found in 11 of 14 (78,6%). But all samples were negative for oestrogen and progesterone receptors, c-KIT and WT1.

Results

Our results regarding β-catenin and APC confirm the previous findings that those proteins play a crucial role in the pathogenesis of sporadic aggressive fibromatosis.     

Ontogeny and homology of the paranasal sinuses in Platyrrhini (Mammalia: Primates)

The identity and taxonomic distribution of paranasal sinuses among living platyrrhines has remained a contentious issue (e.g., Cave [1967] Am J Phys Anthropol 26:277-288 vs. Hershkovitz [1977] Chicago: University of Chicago Press) largely because the ontogenetic data required for their detection and identification (e.g., Cave [1967]; Maier [2000] Cambridge, UK: Cambridge University Press, 99-132.) were not attainable without sacrificing valuable juvenile and subadult specimens. Non-invasive computed tomography (CT) scanning of ontogenetic series of skulls for 10 platyrrhine genera demonstrates the presence of maxillary and ethmoid sinuses, as well as homologs of the human sphenoid and frontal sinuses. Differences in the latter two sinuses between platyrrhines and hominoids highlight the need for early developmental data in establishing sinus homology. In particular, the identification of homologous recesses in the cartilaginous nasal capsule, from which sinuses later develop, emerges as the critical step. This developmental approach also reveals that the anterior and posterior ethmoid sinuses are each sets of serial homologs, a point which reconciles previous difficulties in establishing sinus homologies across mammalian orders (e.g., Paulli [1900] Gegenbaurs Morphol Jahrb 28:147-178, 179-251, 483-564).     

Nasal cavities and paranasal sinuses in newborns and children]

The paranasal or accessory nasal sinuses begin their development as evaginations of the mucosa during the 3rd and 4th fetal months, but undergo their major expansion after birth according to the development of the facial cranium and the teeth. While in the newborn the sphenoidal and frontal sinuses are still only predispositioned, the ethmoidal labyrinth and particularly the maxillary sinus are of appreciable size. In the 4-year-old the frontal and sphenoidal sinuses are already developed and in the 12-year-old the paranasal sinuses reach their final form and a size equivalent to the adult.     

Focus: Rare Disease: Sinonasal Glomangiopericytoma: Review of Imaging Appearance and Clinical Management Update for a Rare Sinonasal Neoplasm

Introduction: Glomangiopericytoma (GPC) is a rare tumor in the nasal cavity or paranasal sinuses with low malignant potential. Initially deemed a hemangiopericytoma, in 2005 it was classified as a distinct entity by the World Health Organization (WHO). Case Presentation: A male patient in his early 60s presented with new-onset right arm and leg weakness/numbness, who was incidentally found to have a left ethmoid sinus mass with extension in the olfactory fossa. On CT and MRI, the mass enhanced with well-defined borders and eroded the bone, but without dural enhancement. The mass was surgically excised, and pathology confirmed the diagnosis of glomangiopericytoma by microscopic appearance and staining. Discussion: Glomangiopericytoma has less than 0.5% incidence of all neoplasms of the sinonasal cavity, making it rare. Most diagnosed patients are in their 6th or 7th decade of age, with a slight female predominance. Treatment is complete surgical excision, with excellent prognosis, although there is up to 17% local recurrence. Despite the non-specific appearance on CT and MRI, imaging can help provide differential diagnosis, tumor extent, size, and reassuring non-aggressive characteristics of the tumor prior to surgery. GPC tumors are relatively resistant to radiation and chemotherapy. Conclusion: It is important to recognize glomangiopericytoma in the differential of masses of the nasal cavities or paranasal sinuses, as they rarely warrant aggressive treatment beyond local excision. Each reported case of glomangiopericytoma helps to build guidance for imaging and treatment since GPC is rare and not well-represented in the medical literature.     

The sphenoid sinus, clinical anatomy of approaches to the pituitary region

Sphenoidal sinus, clinical anatomy: mean values of measurements and research. The ostium of the sinus is situated 4.8 mm paramedian, 4 mm behind the sphenoid sinus with a width of 13.8 mm. Conchal types were estimated in 3%, presellar types in 23.8%, sellar types in 28.6% and postsellar sinuses in 47.6%. The ostium of the sphenoid sinus has a distance to the anterior wall of the Sella turcica mean = 14.6 mm. Included are length values of the sinus, the prominences in the side wall, and the recessus. Our results are discussed with the results of earlier researchers.     

Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids

Desmoid tumours (also called deep or aggressive fibromatoses) are potentially life-threatening fibromatous lesions. Hereditary desmoid tumours arise in individuals affected by either familial adenomatous polyposis (FAP) or hereditary desmoid disease (HDD) carrying germline mutations in APC. Most sporadic desmoids carry somatic mutations in CTNNB1. Previous studies identified losses on 5q and 6q, and gains on 8q and 20q as recurrent genetic changes in desmoids. However, virtually all genetic changes were derived from sporadic tumours. To investigate the somatic alterations in FAP-associated desmoids and to compare them with changes occurring in sporadic tumours, we analysed 17 FAP-associated and 38 sporadic desmoids by array comparative genomic hybridisation and multiple ligation-dependent probe amplification. Overall, the desmoids displayed only a limited number of genetic changes, occurring in 44% of cases. Recurrent gains at 8q (7%) and 20q (5%) were almost exclusively found in sporadic tumours. Recurrent losses were observed for a 700 kb region at 5q22.2, comprising the APC gene (11%), a 2 Mb region at 6p21.2-p21.1 (15%), and a relatively large region at 6q15-q23.3 (20%). The FAP-associated desmoids displayed a significantly higher frequency of copy number abnormalities (59%) than the sporadic tumours (37%). As predicted by the APC germline mutations among these patients, a high percentage (29%) of FAP-associated desmoids showed loss of the APC region at 5q22.2, which was infrequently (3%) seen among sporadic tumours. Our data suggest that loss of region 6q15-q16.2 is an important event in FAP-associated as well as sporadic desmoids, most likely of relevance for desmoid tumour progression.     

Effects of paranasal sinus ostia and volume on acoustic rhinometry measurements: a model study.

We used pipe models to investigate the effects of paranasal sinus ostium size and paranasal sinus volume on the area-distance curves derived by acoustic rhinometry (AR). Each model had a Helmholtz resonator or a short neck as a side branch that simulated the paranasal sinus and sinus ostium. The AR-derived cross-sectional areas posterior to the ostium were significantly overestimated. Sinus volume affected the AR measurements only when the sinus was connected via a relatively large ostium. The experimental area-distance curve posterior to the side branch showed pronounced oscillations in association with low-frequency acoustic resonances in this distal part of the pipe. The experimental results are discussed in terms of theoretically calculated "sound-power reflection coefficients" for the pipe models used. The results indicate that the effects of paranasal sinuses and low-frequency acoustic resonances in the posterior part of the nasal cavity are not accounted for in the current AR algorithms. AR does not provide reliable information about sinus ostium size, sinus volume, or cross-sectional area in the distal parts of nasal cavity.     

Acoustic rhinometry in humans: accuracy of nasal passage area estimates, and ability to quantify paranasal sinus volume and ostium size.

A comprehensive study that compared acoustic rhinometry (AR) data to computed tomography (CT) data was performed to evaluate the accuracy of AR measurements in estimating nasal passage area and to assess its ability of quantifying paranasal sinus volume and ostium size in live humans. Twenty nasal passages of 10 healthy adults were examined by using AR and CT. Actual cross-sectional areas of the nasal cavity, sinus ostia sizes, and maxillary and frontal sinus volumes were determined from CT sections perpendicular to the curved acoustic axis of the nasal passage. Nasal cavity volume (from nostril to choana) calculated from the AR-derived area-distance curve was compared with that from the CT-derived area-distance curve. AR measurements were also done on pipe models that featured a side branch (Helmholtz resonator of constant volume but two different neck diameters) simulating a paranasal sinus. In the anterior nasal cavity, there was good agreement between the cross-sectional areas determined by AR and CT. However, posterior to the sinus ostia, AR overestimated cross-sectional area. The difference between AR nasal volume and CT nasal volume was much smaller than the combined volume of the maxillary and frontal sinuses. The results suggest that AR measurements of the healthy adult nasal cavity are reasonably accurate to the level of the paranasal sinus ostia. Beyond this point, AR overestimates cross-sectional area and provides no quantitative data for sinus volume or ostium size. The effects of paranasal sinuses and acoustic resonances in the nasal cavity are not accounted for in the present AR algorithms.     

Bipolaris australiensis in a Spanish patient with allergic chronic sinusitis

Allergic fungal sinusitis is a disease that results from hypersensitivity reaction of the host against fungi colonizing the paranasal sinuses. A 36 years old Spanish man with no history of travel abroad had a history of asthma, nasal polyps, allergic rhinitis and a chronic sinusitis with nasal congestion and headaches. Computed tomography showed pansinusitis and opacification of the paranasal sinuses. A pure culture of Bipolaris australiensis was grown from sinus tissues. Infections caused by Bipolaris spp. and treatment regimes are discussed.     

Extensive enlargement of the maxillary sinus in Alouatta caraya (mammalia, primates, cebidae): an allometric approach to skull pneumatization in Atelinae

In contrast to the paranasal sinuses of Old World monkeys and hominoids, little information is available about the paranasal sinuses of New World monkeys. Because this information is crucial in order to draw further conclusions about the evolution and biological role of skull pneumatization, this study investigates the morphology of the paranasal sinuses in adult black-and-gold howler monkeys (Alouatta caraya). Volumes of the paranasal sinuses were calculated using computer software (SURFdriver or Allegro) from serial coronal CT scans of 20 skulls of both sexes. Skull pneumatization in A. caraya is more complex than in other higher primates. In both sexes, the maxillary sinus (MS) is the only pneumatic cavity and enlarges regularly into neighboring bones such as the frontal bone and the basisphenoid. The resulting pansinus is often partitioned by several vertical septa. As in most external cranial dimensions, mean MS volume of A. caraya (male 4.08 cm(3); female 2.00 cm(3)) shows significant sexual dimorphism. Reduced major axis regression analysis between MS volume and different cranial dimensions for A. caraya (and for available data from other platyrrhines) suggests a distinct association for this group, with Alouatta having one of the largest pneumatic cavities. The combination of this unusual expansion of the MS of Alouatta and the occurrence of distinct septa within the sinus may be a consequence of the distinct skull architecture of Alouatta.     

Anatomy of the nasal cavity and paranasal sinuses in Aegyptopithecus and early Miocene African catarrhines

Neontological comparisons suggest that paranasal sinus anatomy is diagnostic of several catarrhine clades such as Cercopithecoidea, Hominoidea, Homininae, and Ponginae. However, while the loss of sinuses in cercopithecoids is generally recognized as a derived condition, determining the polarity of character-state changes within noncercopithecoid catarrhines requires knowledge of the primitive catarrhine condition. To address this problem, the paranasal sinus anatomy of Aegyptopithecus and several early Miocene catarrhines was investigated. Two partial facial skeletons of Aegyptopithecus were subjected to computed tomography in order to reveal their internal anatomy. These data were compared with facial and palatal specimens of Proconsul, Limnopithecus, Dendropithecus, Rangwapithecus, and Kalepithecus in the National Museums of Kenya in Nairobi, and to wet and dry specimens of living taxa. Results confirm that cercopithecoid paranasal anatomy is derived, and reveal that the sinus anatomy of stem catarrhines included a hominoid-like maxillary sinus as well as an ethmofrontal system like that of hominines. Accordingly, these two features do not constitute evidence for the hominoid, hominid, or hominine status of any fossil species. Conversely, the absence of the ethmofrontal sinus system in Sivapithecus and Pongo is synapomorphic. In addition, features of the nasal cavity of Limnopithecus and Kalepithecus support previous suggestions that these taxa are stem catarrhines rather than hominoids.     

Evaluation of temporal bone computed tomography and paranasal sinuses magnetic resonance images in acromegalic patients

OBJECTIVE: Acromegaly is a rare disease, which symptoms are caused by excess secretion of a growth hormone (GH) from the anterior pituitary benign tumor - adenoma. Authors present an evaluation of computed tomography (CT) and magnetic resonance (MR) images of temporal bone and paranasal sinuses of patients with acromegaly. CONCLUSIONS: 1. In all patients with acromegaly, morphological changes in paranasal sinuses were shown. They were mostly pronounced within the maxillary sinuses including the mucosa thickening up to 6 mm and encysted fluid occurrence. 2. CT of temporal bone did not reveal structural changes of internal and median ear. 3. There is a need for further studies on hearing impairment in patients with acromegaly.     

Enigmatic Diversity of the Maxillary Sinus in Macaques and Its Possible Role as a Spatial Compromise in Craniofacial Modifications

Understanding the evolutionary significance of morphological diversity is a major goal of evolutionary biology. Paranasal sinuses, which are pneumatized hollow spaces in the face, have attracted attention from researchers as one of the most intriguing traits that show unexpected variations. Macaques are one genus of primates that have accomplished adaptive radiation and therefore present an excellent opportunity to investigate the phenotypic diversification process. Using the large data set of computed tomography images of macaques (172 specimens from 17 species), we applied geometric morphometrics and multivariate analyses to quantitatively evaluate the maxillary sinus (one of the largest paranasal sinuses), the outer craniofacial shape, and nasal cavity. We then applied phylogenetic comparative methods to test their morphological interactions, phylogenetic, and ecogeographical significances. The results showed that the relative maxillary sinus size was significantly associated with the relative nasal cavity size and with the zygomaxillary surface shape. The relative nasal cavity size had ecogeographical correlations and high phylogenetic signal, whereas the zygomaxillary surface shapes were ecogeographically and phylogenetically irrelevant. The significant interactions with multiple surrounding traits that have experienced different evolutionary processes probably enable the maxillary sinus to show enigmatic diversity, which is independent of phylogeny and ecology. The pliable nature of the maxillary sinus, which is positioned between the nasal airways and the outer face, may play a role as a spatial compromise in craniofacial modifications.     

Digital volume tomography in the diagnosis of the surgical anatomy of the frontal recess area

Frontal recess anatomy can be very complex, with accessory cells, such as frontal bulla, agger nasi, suprabulla, and frontal ethmoidal (Kuhn) cells, which may lead to obstruction of the frontal sinus. Digital volume tomography of paranasal sinuses used in this investigation revealed the rate of types of development of various anatomic structures and their correlation with frontal sinusitis in patients with (a study) and without the latter (a control group).     

Postpartum Granulomatous Hypophysitis With Sphenoid Sinus Involvement: A Case Study

ObjectiveTo report an unusual case of granulomatous hypophysitis with sphenoid sinus involvement in a woman presenting with headaches and visual field deficits approximately 2 weeks after a normal delivery.MethodsWe present the history, physical findings, hormonal assay resuxlts, pituitary imaging, surgical findings, and pathology findings at presentation and then followup data at several times encompassing 1 year of observation. We also performed a literature review on granulomatous hypophysitis.ResultsA 29year old woman presented with headache and visual disturbances 11 days after childbirth. Magnetic resonance imaging revealed a sellar mass with suprasellar extension, compression of the optic chiasm, possible invasion of the cavernous sinuses, and sinus mucosal thickening. A subtotal resection was performed through the transsphenoidal route. Histologic examination demonstrated extensive nonvasculitic granulomatous tissue in pituitary and sphenoid mucosal samples. Investigation for known causes of granulomatous hypophysitis was negative. She required desmopressin and levothyroxine replacement postoperatively. Sequential followup revealed spontaneous resolution of the residual mass in 5 months.ConclusionUnique features of this case include the concomitant presence of granulomatous lesions in the pituitary gland and the sphenoid sinus, its manifestation 264 ENDOCRINE PRACTICE Vol 16 No. 2 March/April 2010 in the early postpartum period, and the spontaneous resolution of the residual granulomatous lesions in both the sphenoid sinus and the sella turcica. (Endocr Pract. 2010;16:264-269)