Two benign adenomatous lesions are commonly recognized within the sinonasal tract, namely respiratory epithelial adenomatoid hamartoma (REAH) and seromucinous hamartoma (SH). We present 10 hitherto unrecognized benign polypoid nasal and sinonasal tumoriform lesions having in average 3.6 cm in largest dimension, which are histogenetically related to SH and REAH. In addition to typical structures of REAH and SH, these lesions contained an additional characteristic and slightly atypical adenomatous component, which we termed atypical sinonasal glands arising in SH (ASGSH). ASGSH often produced deep red colored secretion with peripheral clearing similar to that seen in thyroid follicles. In contrast to SH, ASGSH was endowed by both secretory and myoepithelial layers and had mostly angulated shapes with snout-like protrusions into the lumens. Both layers were formed by an irregular, disorganized, and often incomplete cell lining, which had slightly atypical cytological features without mitoses. In 3 cases, ASGSHs revealed sebaceous differentiation, and in 3 cases the stroma produced a well-differentiated cartilage. Neoplastic nature of ASGSH was supported by finding of various mutations as revealed by next generation sequencing in five cases. In two cases each, we found identical mutations in BRAF gene (Val600Glu), and RET gene (Arg912Trp), respectively and in one case FAT1 gene alteration (Pro1665Leu).
- MeSH
- adenom patologie genetika MeSH
- dospělí MeSH
- hamartom * patologie genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- nádory nosu patologie genetika MeSH
- nádory vedlejších dutin nosních patologie genetika MeSH
- respirační sliznice patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Respiračný epiteliálny adenomatoidný hamartóm (REAH) je zriedkavá benígna lézia pochádzajúca z epitelu sliznice nazálnej dutiny a prínosových dutín. V práci opisujeme prípad 51-ročného muža s anamnézou pretrvávajúceho sťaženého dýchania a pocitu upchatého nosa. Diagnostikovanú mal veľkú polypovitú masu v pravom nosovom priechodne so stopkou vyrastajúcou z čuchovej štrbiny. Makroskopicky išlo kompaktný polyp rozmerov 40 × 32 × 10 mm s hladkým povrchom. Histologické vyšetrenie potvrdilo diagnózu REAH s ložiskovo výraznou prevahou žľazových štruktúr s prechodom do seromucinózneho hamartómu. Po operácii klinické ťažkosti ustúpili a pacient je v súčasnosti bez známok recidívy. Napriek zriedkavému výskytu by mal byť REAH zahrnutý v diferenciálnej diagnostike sinonazálnych polypovitých más, najmä ak pochádzajú zo zadnej časti nazálneho septa alebo olfaktoriálnej štrbiny. Včasné rozpoznanie a správna diagnóza predchádzajú zbytočným agresívnym chirurgickým intervenciám a ďalším zaťažujúcim vyšetreniam.
Respiratory epithelial adenomatoid hamartoma (REAH) is a rare benign lesion originating from the mucosal epithelium of the nasal cavity and paranasal sinuses. We describe a 51-year-old man with a history of persistent difficulty breathing and feeling of stuffy nose. He was diagnosed to have a large polypoid mass in the right nasal cavity with a stalk arising from the olfactory cleft. Grossly, it was a compact polyp measuring 40 × 32 × 10 mm with a smooth surface. The histology confirmed the diagnosis of REAH with predominance of glandular structures with a transition to seromucinous hamartoma. After the operation, the clinical problems had disappeared and the patient was free of recurrence. Despite rare occurrence, REAH should be included in the differential diagnosis of sinonasal polypoid masses, especially of those which originate from the posterior part of the nasal septum or olfactory cleft. Early recognition and correct diagnosis prevent unnecessary aggressive surgery and other burdensome examinations.
- Klíčová slova
- respirační epitelový adenomatoidní hamartom,
- MeSH
- adenom chirurgie diagnostické zobrazování patologie MeSH
- diferenciální diagnóza MeSH
- endoskopie MeSH
- hamartom * chirurgie diagnostické zobrazování patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nosní polypy chirurgie diagnostické zobrazování patologie MeSH
- paranazální dutiny * chirurgie diagnostické zobrazování patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
OBJECTIVE: This study was designed to evaluate the possibility of predicting the minimum size of septal resection for safe tumor extraction in transnasal paraseptal pituitary adenoma resection from preoperative computed tomography scans. METHODS: A retrospective CT scan analysis was performed on 20 patients who underwent endoscopic pituitary surgery at the University Hospital in Ostrava. Virtual insertion of the straight instrument into the sphenoid cavity was simulated using a CT scan. The minimum septal resection size was predicted and compared to various diameters in the nasal cavity. The results were then compared with cadaveric dissections, in which septal resections were performed at 1 cm and 2 cm distances from the anterior sphenoid wall. The association between cadaver dissections and CT scan results was studied. RESULTS: A total of 20 patients who underwent endoscopic transnasal surgery for pituitary adenoma between the years 2020 and 2021 were enrolled in the study. The mean virtual posterior septal size resection needed to reach the medial edge of the ICA with the straight instrument, without infracturing the nasal septum, was 13.2 mm. In cadavers with a 1 cm posterior septal resection, the medial edge of the ICA was reached with the straight instrument. In 2 cm resections, it was possible to reach beyond the lateral edge of the ICA. CONCLUSION: There is no significant correlation between the minimum septal size resection and measured diameters in the nasal cavity. According to our study, a 1 cm resection is sufficient for a non-extended pituitary tumor extraction. More extensive septal resections allow for better maneuverability and overview in the surgical field.
- MeSH
- adenom * diagnostické zobrazování chirurgie patologie MeSH
- endoskopie metody MeSH
- lidé MeSH
- nádory hypofýzy * diagnostické zobrazování chirurgie patologie MeSH
- nosní dutina diagnostické zobrazování chirurgie patologie MeSH
- počítačová rentgenová tomografie MeSH
- retrospektivní studie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Prezentujeme případ 42leté ženy s potvrzeným zděděným syndromem von Hippel-Lindau (VHL) a s recidivujícím tumorem endolymfatického vaku (ELST) vlevo, který se prezentoval jako nehomogenní, solidně – cystická expanze pyramidy vlevo. Histologicky byly zastiženy lamely kosti s přilehlým vazivem a s přítomností léze papilárního vzhledu tvořenou centrálně vazivovou a cévnatou tkání, na jejíž papily nasedají poměrně drobné kubické elementy s lehce nepravidelnými hyperchromními jádry. Ojediněle byly zastiženy i drobné cystické formace s obsahem PAS pozitivního eozinofilního materiálu. Imunohistochemicky vykazovaly kubické elementy difuzní expresi vimentinu, epiteliálního membránového antigenu (EMA), cytokeratinu AE1/AE3 a S100 proteinu (pouze slabě). Další vyšetřované markery zahrnující TTF1, PAX8 a CD10 byly negativní. Tumor endolymfatického vaku je vzácný low-grade maligní epiteliální tumor vycházející z endolymfatického vaku v temporální kosti, s incidencí 1:30 000, s popsanými méně než 300 případy. Asi 1/3 z nich je asociována s VHL, autozomálně dominantním familiárním nádorovým syndromem.
We report the case of a 42-year – old female with familiar form von Hippel-Lindau disease (VHL) and recurrent endolymphatic sac tumour (ELST), which was presented like non-homogenous, solid and cystic expansion of the left petrous temporal bone. Histologically, there was found lamellae of bone with adjacent ligament and with papillary projections with fibrovascular core. The papillae were lined by a single layer of cuboidal epithelium with hyperchromatic and lightly pleomorphic nuclei. Sporadically, small cystic formations with eosinophilic, PAS positive secretion were noted. Imunohistochemically, the cuboidal cells showed diffuse positivity for vimentin, epithelial membrane antigen (EMA), cytokeratin AE1/AE3 and S100 protein (weakly). Other markers examined, including TTF1, PAX8 and CD10, were negative. Endolymphatic sac tumour is rare low-grade malignant epithelial tumour arising from the endolymphatic sac in the temporal bone, which occurs in 1 out of 30 000 births, with just fewer than 300 cases reported in the literature. About one third of cases are associated with von Hippel- Lindau disease, an autosomal dominant familial cancer syndrome.
- MeSH
- adenom patologie MeSH
- dědičné nádorové syndromy komplikace patologie MeSH
- imunohistochemie metody MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory kostí komplikace MeSH
- nádory ucha chirurgie patologie MeSH
- saccus endolymphaticus * chirurgie patologie MeSH
- spánková kost patologie MeSH
- von Hippelova-Lindauova nemoc komplikace patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
OBJECTIVE: Stereotactic radiosurgery (SRS) provides a safe and effective therapeutic modality for patients with pituitary adenomas. The mechanism of delayed endocrine deficits based on targeted radiation to the hypothalamic-pituitary axis remains unclear. Radiation to normal neuroendocrine structures likely plays a role in delayed hypopituitarism after SRS. In this multicenter study by the International Radiosurgery Research Foundation (IRRF), the authors aimed to evaluate radiation tolerance of structures surrounding pituitary adenomas and identify predictors of delayed hypopituitarism after SRS for these tumors. METHODS: This is a retrospective review of patients with pituitary adenomas who underwent single-fraction SRS from 1997 to 2019 at 16 institutions within the IRRF. Dosimetric point measurements of 14 predefined neuroanatomical structures along the hypothalamus, pituitary stalk, and normal pituitary gland were made. Statistical analyses were performed to determine the impact of doses to critical structures on clinical, radiographic, and endocrine outcomes. RESULTS: The study cohort comprised 521 pituitary adenomas treated with SRS. Tumor control was achieved in 93.9% of patients over a median follow-up period of 60.1 months, and 22.5% of patients developed new loss of pituitary function with a median treatment volume of 3.2 cm3. Median maximal radiosurgical doses to the hypothalamus, pituitary stalk, and normal pituitary gland were 1.4, 7.2, and 11.3 Gy, respectively. Nonfunctioning adenoma status, younger age, higher margin dose, and higher doses to the pituitary stalk and normal pituitary gland were independent predictors of new or worsening hypopituitarism. Neither the dose to the hypothalamus nor the ratio between doses to the pituitary stalk and gland were significant predictors. The threshold of the median dose to the pituitary stalk for new endocrinopathy was 10.7 Gy in a single fraction (OR 1.77, 95% CI 1.17-2.68, p = 0.006). CONCLUSIONS: SRS for the treatment of pituitary adenomas affords a high tumor control rate with an acceptable risk of new or worsening endocrinopathy. This evaluation of point dosimetry to adjacent neuroanatomical structures revealed that doses to the pituitary stalk, with a threshold of 10.7 Gy, and doses to the normal gland significantly increased the risk of post-SRS hypopituitarism. In patients with preserved pre-SRS neuroendocrine function, limiting the dose to the pituitary stalk and gland while still delivering an optimal dose to the tumor appears prudent.
- MeSH
- adenom * patologie radioterapie MeSH
- hypopituitarismus * etiologie MeSH
- lidé MeSH
- nádory hypofýzy * diagnostické zobrazování etiologie radioterapie MeSH
- následné studie MeSH
- radiochirurgie * škodlivé účinky MeSH
- retrospektivní studie MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
BACKGROUND: Transsphenoid meningoencephalocele is a congenital anomaly formed by herniation of an ependyma delimited sac through a bony defect into the sphenoid sinus. The sac contains cerebrospinal fluid and neurovascular structures. The prevalence of transsphenoid meningoencephalocele in the adult population is rare. It usually manifests as nasal liquorrhoea. METHODS AND RESULTS: This case report presents an adult male who underwent surgery due to suspected pituitary macroadenoma. The surgery was performed endoscopically via the transnasal approach with a surprising finding of true transsphenoid meningoencephalocele. Ectopic solid tissue was found in the sphenoid sinus in which pituitary adenoma was histologically confirmed. CONCLUSION: This paper presents a previously unpublished combination of true transsphenoid meningoencephalocele and pituitary adenoma in an adult individual.
- MeSH
- adenom * komplikace patologie chirurgie MeSH
- dospělí MeSH
- encefalokéla etiologie patologie chirurgie MeSH
- endoskopie metody MeSH
- lidé MeSH
- meningokéla * diagnostické zobrazování patologie chirurgie MeSH
- nádory hypofýzy * komplikace patologie chirurgie MeSH
- sinus sphenoidalis patologie chirurgie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
A colorectal adenoma, an aberrantly growing tissue, arises from the intestinal epithelium and is considered as precursor of colorectal cancer (CRC). In this study, we investigated structural and numerical chromosomal aberrations in adenomas, hypothesizing that chromosomal instability (CIN) occurs early in adenomas. We applied array comparative genomic hybridization (aCGH) to fresh frozen colorectal adenomas and their adjacent mucosa from 16 patients who underwent colonoscopy examination. In our study, histologically similar colorectal adenomas showed wide variability in chromosomal instability. Based on the obtained results, we further stratified patients into four distinct groups. The first group showed the gain of MALAT1 and TALAM1, long non-coding RNAs (lncRNAs). The second group involved patients with numerous microdeletions. The third group consisted of patients with a disrupted karyotype. The fourth group of patients did not show any CIN in adenomas. Overall, we identified frequent losses in genes, such as TSC2, COL1A1, NOTCH1, MIR4673, and GNAS, and gene gain containing MALAT1 and TALAM1. Since long non-coding RNA MALAT1 is associated with cancer cell metastasis and migration, its gene amplification represents an important event for adenoma development.
Hormone-secreting adenomas are treated in many neurosurgical centers within Europe. The goal of the survey is to understand variance in practice management of pituitary tumors amongst neurosurgical centers. A list of departments performing pituitary surgery was created. The survey consisted of 58 questions. This study focuses on neurosurgical care of hormone-secreting adenomas. For analysis, the departments were divided into four subgroups: academic/non-academic, high-volume/low-volume, "mainly endoscopic/mainly microscopic practice" and geographical regions. Data from 254 departments from 34 countries were obtained. Most centers surgically treat 1-5 hormone-secreting adenomas per year. In prolactinomas this is the case in 194 centers, (76.4%), in GH-secreting adenomas: 133 centers, (52.4%), ACTH-secreting adenomas: 172 centers, (69.8%). Surgery as a primary treatment of prolactinomas is considered in 64 centers (25.2%). In 47 centers (18.8%), GH-secreting microadenomas are often treated pharmacologically first. Debulking surgery for an invasive GH-secreting adenoma in which hormonal remission is not a realistic goal of the surgery and the patient has no visual deficit surgery is always or mostly indicated in 156 centers (62.9%). Routine postoperative hydrocortisone replacement therapy is administered in 147 centers (58.6%). Our survey shows that in most centers, few hormone-secreting adenomas are treated per year. In about 25% of the centers, prolactinoma surgery may be regarded as first-line treatment; in about 20% of the centers, medical treatment is the first-line treatment for GH-secreting adenomas. Pretreatment for ACTH-secreting adenomas is routinely used in 21% of centers. This survey may serve as plea for neurosurgical care centralization of hormone-secreting adenomas.
The salivary gland section in the 5th edition of the World Health Organization Classification of Head and Neck Tumours features a description and inclusion of several new entities, including sclerosing polycystic adenoma, keratocystoma, intercalated duct adenoma, and striated duct adenoma among the benign neoplasms; and microsecretory adenocarcinoma and sclerosing microcystic adenocarcinoma as the new malignant entities. The new entry also includes mucinous adenocarcinoma subdivided into papillary, colloid, signet ring, and mixed subtypes with recurrent AKT1 E17K mutations across patterns suggesting that mucin-producing salivary adenocarcinomas represent a histologically diverse single entity that may be related to salivary intraductal papillary mucinous neoplasm (IPMN). Importantly, the number of entities in the salivary chapter has been reduced by omitting tumors or lesions if they do not occur exclusively or predominantly in salivary glands, including hemangioma, lipoma, nodular fasciitis and hematolymphoid tumors. They are now discussed in detail elsewhere in the book. Cribriform adenocarcinoma of salivary gland origin (CASG) now represents a distinctive subtype of polymorphous adenocarcinoma (PAC). PAC is defined as a clinically, histologically and molecularly heterogeneous disease group. Whether CASG is a different diagnostic category or a variant of PAC is still controversial. Poorly differentiated carcinomas and oncocytic carcinomas are discussed in the category "Salivary carcinoma not otherwise specified (NOS) and emerging entities". New defining genomic alterations have been characterized in many salivary gland tumors. In particular, they include gene fusions, which have shown to be tightly tumor-type specific, and thus valuable for use in diagnostically challenging cases. The recurrent molecular alterations were included in the definition of mucoepidermoid carcinoma, adenoid cystic carcinoma, secretory carcinoma, polymorphous adenocarcinoma, hyalinizing clear cell carcinoma, mucinous adenocarcinoma, and microsecretory adenocarcinoma.
- MeSH
- adenokarcinom * patologie MeSH
- adenom * genetika patologie MeSH
- lidé MeSH
- mucinózní adenokarcinom * MeSH
- nádorové biomarkery genetika MeSH
- nádory slinných žláz * genetika patologie MeSH
- slinné žlázy patologie MeSH
- Světová zdravotnická organizace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
A large proportion of colorectal carcinomas (CRC) evolve from colorectal adenomas. However, not all individuals with colonic adenomas have a risk of CRC substantially higher than those of the general population. The aim of the study was to determine the differences or similarities of mutation profile among low- and high-grade adenomas and in situ carcinoma with detailed follow up. We have investigated the mutation spectrum of well-known genes involved in CRC (such as APC, BRAF, EGFR, NRAS, KRAS, PIK3CA, POLE, POLD1, SMAD4, PTEN, and TP53) in a large, well-defined series of 96 adenomas and in situ carcinomas using a high-throughput genotyping technique. Besides, the microsatellite instability and APC and MLH1 promoter methylation were studied as well. We observed a high frequency of pathogenic variants in the studied genes. The APC, KRAS and TP53 mutation frequencies were slightly lower in adenoma samples than in in situ carcinoma samples. Further, when we stratified mutation frequency based on the grade, the frequency distribution was as follows: low-grade adenoma-high-grade adenomas-in situ carcinoma: APC gene 42.9-56.0-54.5%; KRAS gene 32.7-32.0-45.5%; TP53 gene 8.2-20.0-18.2%. The occurrence of KRAS mutation was associated with the presence of villous histology and methylation of the APC promoter was significantly associated with the presence of POLE genetic variations. However, no association was noticed with the presence of any singular mutation and occurrence of subsequent adenoma or CRC. Our data supports the multistep model of gradual accumulation of mutations, especially in the driver genes, such as APC, TP53 and KRAS.
- MeSH
- adenom genetika patologie MeSH
- karcinom in situ genetika patologie MeSH
- kolorektální nádory genetika patologie MeSH
- lidé MeSH
- metylace DNA MeSH
- mikrosatelitní nestabilita * MeSH
- mutace * MeSH
- nádorové biomarkery genetika MeSH
- následné studie MeSH
- prognóza MeSH
- senioři MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
