Fine needle aspiration cytology of breast cylindroma in a woman with familial cylindromatosis: a case report

BACKGROUND: That sweat gland type tumors occur occasionally in the breast is not surprising, as the breast and cutaneous sweat glands are embryologically related. Cylindromas present most commonly as solitary and sporadic dermal nodules on the face and scalp. Cases of multiple cylindromas are dominantly inherited, and the neoplasms are referred to as "turban tumors" when multiple lesions cover the scalp. Primary cylindroma of the breast has been reported once in the past. To the best of our knowledge, the fine needle aspiration cytology of primary breast cylindroma and its occurrence in the setting of familial cylindromatosis have not previously been reported. CASE: A 59-year-old woman presented with an ill-defined left breast mass. She had a personal and family history of dermal cylindromas on the head and face. Fine needle aspiration cytology demonstrated small, uniform cells with oval nuclei and finely granular cytoplasm, with some cells arranged around conspicuous cylinders of dense, acellular material. Excisional biopsy was recommended to exclude adenoid cystic carcinoma. Tissue biopsy revealed a benign cylindroma arising in breast parenchyma. CONCLUSION: Fine needle aspiration cytology of cylindroma very closely mimics that of adenoid cystic carcinoma. Although extremely rare, primary breast cylindroma is another entity to be included in the cytologic differential diagnosis of bland, basaloid cells associated with globular, extracellular material, a finding most commonly associated with adenoid cystic carcinoma.     

Dermal cylindroma. Expression of intermediate filaments, epithelial and neuroectodermal antigens.

We report on immunohistochemical staining patterns in so-called apocrine tumors of skin with special emphasis on the dermal cylindroma. The results were compared with apocrine tubular adenoma, syringocystadenoma papilliferum and the normal eccrine sweat gland. A relationship of dermal cylindroma to the apocrine gland is suggested by expression of lysozyme and alpha 1-antichymotrypsin. The tumor shares keratin, epithelial membrane antigen (EMA) and EGF-receptor expression with eccrine and apocrine glands. The presence of intermingled cells with a coexpression of keratin and vimentin argues for a partial myoepithelia-like differentiation. Neuroectodermal antigens are missing. Therefore, dermal cylindroma is classified as an adnexal tumor of skin with a variable rate of cells of apocrine secretory, myoepithelial and undifferentiated phenotypes.     

A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16

Hereditary cylindromatosis (HC; MIM 132700) is an autosomal dominant condition characterized by benign skin appendage tumors most commonly on the scalp and face. Previously, the HC gene (CYLD1) was linked to chromosome 16q12–13, and tumors showed loss of heterozygosity (LOH), suggesting that CYLD1 is a tumor suppressor gene. Here we report a new multi-generation cylindromatosis family whose condition maps to that region, with 7/13 tumors showing LOH on 16q. Electronic Publication     

Benign dermal eccrine cylindroma. A pitfall in the cytologic diagnosis of adenoid cystic carcinoma

Aspiration cytology from four benign dermal eccrine cylindromas and five adenoid cystic carcinomas were compared. These two lesions were found to have so much in common morphologically that they may be indistinguishable on a purely cytologic basis. Accordingly, we recommend a restricted excision to obtain a histopathologic diagnosis before more extensive surgery is performed whenever a lesion is cytologically consistent with adenoid cystic carcinoma but clinically shows a picture that does not exclude dermal eccrine cylindroma.     

Dermal cylindroma (turban tumor). Case report.

We present an unusual case of massive dermal cylindroma (turban tumor), occupying the entire scalpand forehead. It was treated by a total scalping procedure and skin grafting in two stages. Additional tumors of the face, neck, chest, shoulders, and back were excised and closed. The nose was treated by shoving and dermabrasion, similar to a rhinophyma. The lip was treated by dermabrasion. There has been no evidence of recurrence in the scalp which was treated by excision and grafting. There is now a papular quality of the skin over the nose and on the uppler lip, indicating that regrowth may occur. The etiology, pathology, and a review of the literature are presented.     

Cylindromatosis and the CYLD gene: new lessons on the molecular principles of epithelial growth control

Analysing cylindromatosis and the associated defects in the CYLD gene is providing novel insights into the molecular principles of epithelial growth control and carcinogenesis in, and beyond, the skin. In this review, we summarize the histopathology and histogenesis of cylindromas, and the available genetic information on patients with these skin appendage tumors. Focusing on recent data concerning the normal functions and signaling interactions of the CYLD gene product, we explain how CYLD interferes with TNF-alpha or TLR-mediated signaling as well as with JNK or NF-kappaB-dependent p65/50 signaling to limit inflammation. In addition, we delineate how CYLD interferes with activation of the proto-oncogene Bcl(3) and with cyclin D1 expression to limit tumorigenesis, and chart how tumor growth-promoting agents or UV light and inflammatory mediators can activate CYLD. We argue that these recent insights into CYLD function and cylindroma pathogenesis may lead to the development of novel molecular strategies for cancer prevention and treatment.     

Observation of a wild Japanese macaque mother pacifying her distressed infant with an acorn

This is the first report on an observation of food transfer by a mother to her offspring in wild Japanese macaques (Macaca fuscata yakui). On November 6, 1996, an adult female wild Japanese macaque stopped grooming her 1.5–1.6 yr old daughter in order to be groomed by a young male. Her daughter protested loudly for about 1 min. In response to her daughter's protest, the mother picked up a mature nut ofQuercus phillyraeoides that was lying near her right hand, and placed it in the daughter's mouth. The daughter's cries were immediately muffled and she silently ate the acorn's contents, and spat out the pericarp. We inferred that the daughter wanted to be groomed by her mother, not to receive food. This reported example of treatment resembling tool using behavior in response to an emotional outcry was precipitated by mother-offspring conflict in the natural habitat.     

FNAC in the diagnosis of recurrent dermatofibrosarcoma protuberans of the forehead. A case report

BACKGROUND: Dermatofibrosarcoma protuberans is a rare cutaneous soft tissue tumor of intermediate malignant potential with a characteristic tendency for recurrence. Metastases are unusual. This tumor usually occurs in the trunk and extremities and, infrequently, on the face and scalp. Its cytologic appearance on fine needle aspiration has only been rarely reported. It is characterized by numerous fibroblastlike cells that arrange as single cells or in clusters of spindle cells arrayed in a storiform pattern. CASE: A 42-year-old male presented with a one-year history of an enlarging left forehead mass (lateral brow) that was adjacent to an old surgical scar. Fine needle aspiration revealed a low grade spindle cell neoplasm morphologically identical to a dermatofibrosarcoma protuberans excised 15 years earlier, indicating tumor recurrence. CONCLUSION: Distinguishing dermatofibrosarcoma protuberans from other spindle cell tumors and fibrohistiocytic lesions may pose significant challenges to the pathologist. However, in the appropriate clinical setting and applying strict diagnostic criteria, fine needle aspiration cytology is a reliable tool in establishing the diagnosis of this neoplasm.     

Third-party grooming in a captive chimpanzee group

Social grooming is ubiquitous among the captive chimpanzees at Chester Zoo. Seven individuals were chosen here for a study of third-party social dynamics. The grooming decisions of five adult males were analysed, but only insofar as they directed attention to a mother–daughter pair. Uniquely, the daughter was an unpopular and physically disabled subadult whose congenital motor impairments prevented her from grooming others effectively. The impetus for this study was the observation that some males increased their grooming towards the disabled daughter during days when the mother had a tumescent anogenital swelling (sexually attractive to males) compared to days when the mother was not tumescent (less attractive). Apparently, males were grooming the daughter with no possibility of payback (because the daughter could never “return the favour”). A “grooming rate” (avg. grooming time/hour) was calculated that showed the grooming efforts of all five males towards both mother and daughter. These rates were compared on days when (1) the mother’s anogenital swelling was tumescent, and (2) days when the swelling was not tumescent. Each male showed a different pattern of behaviour. Two males groomed the daughter significantly more when the mother was tumescent. Results for all males were graphed against the quality of the social relationship between each male and the mother. Apparently, only males that had a weaker relationship to the mother groomed the daughter more when the mother was tumescent. This pattern did not exist for males with a stronger relationship to the mother. Possibly, the insecure males were using the disabled daughter as a way to curry favour with the attractive mother. If this is confirmed, then this type of triadic situation is a possible setting for indirect reciprocity to occur.     

A mutation in the ATP2 gene abrogates the age asymmetry between mother and daughter cells of the yeast Saccharomyces cerevisiae

The yeast Saccharomyces cerevisiae reproduces by asymmetric cell division, or budding. In each cell division, the daughter cell is usually smaller and younger than the mother cell, as defined by the number of divisions it can potentially complete before it dies. Although individual yeast cells have a limited life span, this age asymmetry between mother and daughter ensures that the yeast strain remains immortal. To understand the mechanisms underlying age asymmetry, we have isolated temperature-sensitive mutants that have limited growth capacity. One of these clonal-senescence mutants was in ATP2, the gene encoding the beta-subunit of mitochondrial F(1), F(0)-ATPase. A point mutation in this gene caused a valine-to-isoleucine substitution at the ninetieth amino acid of the mature polypeptide. This mutation did not affect the growth rate on a nonfermentable carbon source. Life-span determinations following temperature shift-down showed that the clonal-senescence phenotype results from a loss of age asymmetry at 36 degrees, such that daughters are born old. It was characterized by a loss of mitochondrial membrane potential followed by the lack of proper segregation of active mitochondria to daughter cells. This was associated with a change in mitochondrial morphology and distribution in the mother cell and ultimately resulted in the generation of cells totally lacking mitochondria. The results indicate that segregation of active mitochondria to daughter cells is important for maintenance of age asymmetry and raise the possibility that mitochondrial dysfunction may be a normal cause of aging. The finding that dysfunctional mitochondria accumulated in yeasts as they aged and the propensity for old mother cells to produce daughters depleted of active mitochondria lend support to this notion. We propose, more generally, that age asymmetry depends on partition of active and undamaged cellular components to the progeny and that this "filter" breaks down with age.     

Preferential retrotransposition in aging yeast mother cells is correlated with increased genome instability

Retrotransposon expression or mobility is increased with age in multiple species and could promote genome instability or altered gene expression during aging. However, it is unclear whether activation of retrotransposons during aging is an indirect result of global changes in chromatin and gene regulation or a result of retrotransposon-specific mechanisms. Retromobility of a marked chromosomal Ty1 retrotransposon in Saccharomyces cerevisiae was elevated in mother cells relative to their daughter cells, as determined by magnetic cell sorting of mothers and daughters. Retromobility frequencies in aging mother cells were significantly higher than those predicted by cell age and the rate of mobility in young populations, beginning when mother cells were only several generations old. New Ty1 insertions in aging mothers were more strongly correlated with gross chromosome rearrangements than in young cells and were more often at non-preferred target sites. Mother cells were more likely to have high concentrations and bright foci of Ty1 Gag–GFP than their daughter cells. Levels of extrachromosomal Ty1 cDNA were also significantly higher in aged mother cell populations than their daughter cell populations. These observations are consistent with a retrotransposon-specific mechanism that causes retrotransposition to occur preferentially in yeast mother cells as they begin to age, as opposed to activation by phenotypic changes associated with very old age. These findings will likely be relevant for understanding retrotransposons and aging in many organisms, based on similarities in regulation and consequences of retrotransposition in diverse species.     

Osteodysplasia or the Melnick-Needles syndrome; (apropos of a new case)

Osteodysplasty (Melnick and Needles syndrome) without facial dysmorphy in a 26 1/2 years old woman, mother of a normal 5 months female infant. First male newborn was stillborn at 37 weeks of amenorrhea with Potter syndrome and severe malformations (microcephaly, cleft lip and palate, posterior scalp lesions, bilateral palmar transverse crease) just like 13 trisomy. Spine and limb X-ray anomalies pointed out a week before foetus expulsion are not proved subsequently because examinations deficiency.     

Genetic evolution of nevus of Ota reveals clonal heterogeneity acquiring BAP1 and TP53 mutations

Melanoma presents molecular alterations based on its anatomical location and exposure to environmental factors. Due to its intrinsic genetic heterogeneity, a simple snapshot of a tumor's genetic alterations does not reflect the tumor clonal complexity or specific gene–gene cooperation. Here, we studied the genetic alterations and clonal evolution of a unique patient with a Nevus of Ota that developed into a recurring uveal‐like dermal melanoma. The Nevus of Ota and ulterior lesions contained GNAQ mutations were c‐KIT positive, and tumors showed an increased RAS pathway activity during progression. Whole‐exome sequencing of these lesions revealed the acquisition of BAP1 and TP53 mutations during tumor evolution, thereby unmasking clonal heterogeneity and allowing the identification of cooperating genes within the same tumor. Our results highlight the importance of studying tumor genetic evolution to identify cooperating mechanisms and delineate effective therapies.     

A mother's sacrifice: what is she keeping for herself?

Individual cells of the budding yeast, Saccharomyces cerevisiae, have a limited life span and undergo a form of senescence termed replicative aging. Replicative life span is defined as the number of daughter cells produced by a yeast mother cell before she ceases dividing. Replicative aging is asymmetric: a mother cell ages but the age of her daughter cells is 'reset' to zero. Thus, one or more senescence factors have been proposed to accumulate asymmetrically between mother and daughter yeast cells and lead to mother-specific replicative senescence once a crucial threshold has been reached. Here we evaluate potential candidates for senescence factors and age-associated phenotypes and discuss potential mechanisms underlying the asymmetry of replicative aging in budding yeast.     

Geophagia sideropenica]

The authors describe two cases of geophagia (45 years old mother and her 25 years old daughter). Both suffered from an anaemia of medium degree only (case 1: 3.77 million of erythrocytes, Hb 8.5 g%; case 2: 3.34 million of erythrocytes, Hb 10 g%), there was a serious iron deficiency (46 and 35 microgram % respectively of serum iron). Both were blood donors, the mother 7 times and the daughter 31 times. In both cases the iron deficiency existed before geophagia. The desire for eating argillacecous earth already disappeared after the application of some ampules of Ferrlecit injected intravenously, even before the values of the serum iron and the number of erythrocytes had changed. The number of erythrocytes, the Hb value and that of haematocrit as well as the values of the serum iron normalized completely. EEG changes were observed in both cases, which could be influenced by the ferrotherapy. The authors recommend the serum iron estimation in all blood donors as well as the introduction of their routine treatment with iron preparations.     

Centriole modification in human aortic endothelial cells.

The structure of centrioles in endothelial cells of embryonic (22-24 weeks old) and definitive (2, 14-17, and 30-40 years) human aorta in situ and also in aortic endothelial cells dividing in organ and cell cultures (donor age 30-40 years) was studied. It was found that in the endothelial cells from definitive aorta the lengths of mother centrioles vary from 0.5 to 2 microns, whereas the length of daughter centrioles remains constant (0.4-0.5 microns). The distal part of the cylinder of long mother centrioles consists of microtubule doublets. In aorta of donors 30-40 years old in multinucleated cells and in one of 30 single-nucleated cells analyzed, C-shaped long centrioles were seen. These centrioles exhibit a doublet organization along all their length. Mitotic cells in organ and cell culture had a nonequal structure of spindle poles: at one pole, the long mother centriole was seen, while at the other a mother centriole of standard size was found. In such cells of organ culture long centrioles make contact with the remnant of primary cilia until the end of anaphase. In cell culture mitotic cells are also observed containing C-shaped centrioles. In these cells the number of mother centrioles is odd and their number is not equal to the number of daughter centrioles. The possible mechanism for transformation of endothelial centrioles and its role in the control of cell-cycle progression are discussed.     

Young daughter cladodes affect CO2 uptake by mother cladodes of Opuntia ficus-indica

BACKGROUND AND AIMS: Drought damages cultivated C3, C4 and CAM plants in the semi-arid lands of central Mexico. Drought damage to Opuntia is common when mother cladodes, planted during the dry spring season, develop young daughter cladodes that behave like C3 plants, with daytime stomatal opening and water loss. In contrast, wild Opuntia are less affected because daughter cladodes do not develop on them under extreme drought conditions. The main objective of this work is to evaluate the effects of the number of daughter cladodes on gas exchange parameters of mother cladodes of Opuntia ficus-indica exposed to varying soil water contents. METHODS: Rates of net CO2 uptake, stomatal conductance, intercellular CO2 concentration, chlorophyll content and relative water content were measured in mature mother cladodes with a variable number of daughter cladodes growing in spring under dry and wet conditions. KEY RESULTS: Daily carbon gain by mother cladodes was reduced as the number of daughter cladodes increased to eight, especially during drought. This was accompanied by decreased mother cladode relative water content, suggesting movement of water from mother to daughter cladodes. CO2 assimilation was most affected in phase IV of CAM (late afternoon net CO2 uptake) by the combined effects of daughter cladodes and drought. Rainfall raised the soil water content, decreasing the effects of daughter cladodes on net CO2 uptake by mother cladodes. CONCLUSIONS: Daughter cladodes significantly hasten the effects of drought on mother cladodes by competition for the water supply and thus decrease daily carbon gain by mother cladodes, mainly by inhibiting phase IV of CAM.     

A human case of tick bite by Ixodes nipponensis on the scalp

A human case of tick bite on the scalp was found at a local hospital on June, 1984. The patient, 63-year old female, was attacked by a tick while working in a farm forest which located in the suburbs of Seoul. The clinical complaint was a (worm) mass on the scalp which she thought as a tumor. On admission the patient complained of facial edema and general malaise. After removal of the mass (tick), small bleeding and discoloration were observed around the biting site. The tick was morphologically examined and identified as Ixodes nipponensis. This is the 4th human case of tick bite reported in the literature of Korea.     

Sir2-dependent daughter-to-mother transport of the damaged proteins in yeast is required to prevent high stress sensitivity of the daughters

The budding yeast Saccharomyces cerevisiae actively transports adverse factors (e.g. oxidized proteins) from the daughter to mother cells. The transport is believed to ensure that the daughters are born "young", thus preventing clonal senescence. Is this the only reason for the existence of such transport? We subjected yeast cells to various stress conditions and compared survival of mother and daughter cells. It was found that replicative age-dependent mortality under our experimental stress conditions was U-shaped: the resistance of both virgin daughters and old mother cells (more than three bud scars) was lower compared to the young mothers. SIR2 mutants were shown to fail to maintain the mother-daughter asymmetry. We showed that sir2 knockout affects the relative stress resistance in favor of the mothers. Thus, daughter cells are more vulnerable to a variety of stresses than the young mothers, and Sir2-dependent transport of the adverse factors acts to equalize the resistance.     

Aspiration cytology in the diagnosis of primary tumors of skin adnexa

OBJECTIVE: To evaluate the cytologic features and pitfalls in the cytodiagnosis of certain tumors of skin adnexa. STUDY DESIGN: Smears from five nodular basal cell carcinomas, two chondroid syringomas and one case each of primary mucinous carcinoma, Merkel cell tumor, trichoepithelioma, pilomatrixoma and eccrine spiradenocarcinoma, all histologically confirmed, were evaluated with special attention to cytologic features that may aid the diagnoses. RESULTS: Ten of 12 (83.3%) adnexal tumors were correctly recognized on aspiration cytology. The five basal cell carcinomas were atypical in presentation and clinically unsuspected but were diagnosed on cytology. The chondroid syringomas and Merkel cell tumor could also be diagnosed due to awareness of the cytologic features and sound clinical correlation. The eccrine spiradenocarcinoma was diagnosed as spiradenoma because of improper assessment of local invasion and incorrect mitotic count in the aspirates. The diagnosis was inaccurate in primary mucinous carcinoma as the aspirate yielded mainly mucin. CONCLUSION: Although exact subtyping of tumors of skin adnexa may not always be essential, certain benign adnexal tumors have aggressive counterparts (e.g., eccrine spiradenomas), while others clinically mimic metastases or small round cell carcinomas (e.g., Merkel cell tumors). Thus, correct cytodiagnoses and awareness of the limitations of cytology (such as in the assessment of local invasion) in these instances help to outline surgical management.