RESUMEN
Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation (CDDG) caused by loss of function of an enzyme involved in fOS metabolism, has elicited increased interest in fOS processing. The catabolism of fOSs has been linked to the activity of a specific cytosolic mannosidase, MAN2C1, which cleaves α1,2-, α1,3-, and α1,6-mannose residues. In this study, we report the clinical, biochemical, and molecular features of six individuals, including two fetuses, with bi-allelic pathogenic variants in MAN2C1; the individuals are from four different families. These individuals exhibit dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Complementation experiments with isogenic MAN2C1-KO HAP1 cells confirm the pathogenicity of three of the identified MAN2C1 variants. We further demonstrate that MAN2C1 variants lead to accumulation and delay in the processing of fOSs in proband-derived cells. These results emphasize the involvement of MAN2C1 in human neurodevelopmental disease and the importance of fOS catabolism.
Asunto(s)
Quistes del Sistema Nervioso Central/genética , Trastornos Congénitos de Glicosilación/genética , Hamartoma/genética , Discapacidad Intelectual/genética , Oligosacáridos/metabolismo , Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa/deficiencia , Polimicrogiria/genética , alfa-Manosidasa/genética , Adolescente , Alelos , Tronco Encefálico/metabolismo , Tronco Encefálico/patología , Línea Celular Tumoral , Quistes del Sistema Nervioso Central/metabolismo , Quistes del Sistema Nervioso Central/patología , Vermis Cerebeloso/metabolismo , Vermis Cerebeloso/patología , Niño , Preescolar , Trastornos Congénitos de Glicosilación/metabolismo , Trastornos Congénitos de Glicosilación/patología , Femenino , Feto , Glicosilación , Hamartoma/metabolismo , Hamartoma/patología , Humanos , Hipotálamo/metabolismo , Hipotálamo/patología , Discapacidad Intelectual/metabolismo , Discapacidad Intelectual/patología , Leucocitos/metabolismo , Leucocitos/patología , Masculino , Manosa/metabolismo , Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa/genética , Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa/metabolismo , Polimicrogiria/metabolismo , Polimicrogiria/patología , Lengua/metabolismo , Lengua/patología , alfa-Manosidasa/deficienciaRESUMEN
BACKGROUND: Gastric hamartomatous inverted polyps (GHIPs) are not well characterized and remain diagnostically challenging due to rarity. Therefore, this study aims to investigate the clinicopathologic and endoscopic characteristics of patients with GHIP. METHODS: We retrospectively reviewed clinicopathologic and endoscopic features of ten patients with GHIP who were admitted to Beijing Friendship Hospital from March 2013 to July 2022. All patients were treated successfully by endoscopic resection. RESULTS: GHIPs were usually asymptomatic and found incidentally during gastroscopic examination. They may be sessile or pedunculated, with diffuse or local surface redness or erosion. On endoscopic ultrasonography, the sessile submucosal tumor-type GHIP demonstrated a heterogeneous lesion with cystic areas in the third layer of the gastric wall. Histologically, GHIPs were characterized by a submucosal inverted proliferation of cystically dilated hyperplastic gastric glands accompanied by a branching proliferation of smooth muscle bundles. Inflammatory cells infiltration was observed in the stroma, whereas only one patient was complicated with glandular low-grade dysplasia. Assessment of the surrounding mucosa demonstrated that six patients (60%) had atrophic gastritis or Helicobacter pylori-associated gastritis, and four patients (40%) had non-specific gastritis. Endoscopic resection was safe and effective. CONCLUSIONS: GHIPs often arise from the background of abnormal mucosa, such as atrophic or H.pylori-associated gastritis. We make the hypothesis that acquired inflammation might lead to the development of GHIPs. We recommend to make a full assessment of the background mucosa and H. pylori infection status for evaluation of underlying gastric mucosal abnormalities, which may be the preneoplastic condition of the stomach.
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Pólipos Adenomatosos , Endosonografía , Mucosa Gástrica , Gastroscopía , Hamartoma , Pólipos , Neoplasias Gástricas , Humanos , Masculino , Femenino , Persona de Mediana Edad , Estudios Retrospectivos , Hamartoma/patología , Hamartoma/diagnóstico por imagen , Hamartoma/cirugía , Neoplasias Gástricas/patología , Neoplasias Gástricas/cirugía , Neoplasias Gástricas/diagnóstico por imagen , Mucosa Gástrica/patología , Mucosa Gástrica/diagnóstico por imagen , Mucosa Gástrica/cirugía , Adulto , Anciano , Pólipos/patología , Pólipos/cirugía , Pólipos/diagnóstico por imagen , Gastropatías/patología , Gastropatías/cirugía , Gastropatías/diagnóstico por imagen , Infecciones por Helicobacter/complicaciones , Infecciones por Helicobacter/patología , Helicobacter pylori/aislamiento & purificación , Gastritis/patología , Gastritis/complicaciones , Gastritis/diagnóstico por imagen , Gastritis Atrófica/patología , Gastritis Atrófica/complicaciones , Resección Endoscópica de la MucosaRESUMEN
So far, confusion exists regarding the question of whether hereditary perifollicular fibromas and fibrofolliculomas can be distinguished from each other. Here, histopathological arguments are presented to clarify this terminological problem. In 1977, Birt et al. described a large kindred affected with hereditary multiple "fibrofolliculomas," which they thought were "a hitherto unrecognized pilar hamartoma," but they never claimed the fibrofolliculomas were part of a syndrome. A careful microscopic comparison shows, however, that the tumors are clinically and histopathologically identical to perifollicular fibromas, as first described by Burnier and Rejsek in 1925. Their familial occurrence was discovered in 1971 by Civatte and Le Tréguilly. Before 1977, the term "perifollicular fibroma" was used for these skin tumors. By contrast, Hornstein and Knickenberg described in 1975 perifollicular fibromas as a cutaneous marker of a syndrome characterized by a predisposition to colon cancer and pneumothorax. Later, two French groups erroneously proposed the term "Birt-Hogg-Dubé syndrome" to describe the co-occurrence of fibrofolliculomas, trichodiscomas, and acrochordons, which was contrary to what Birt et al. had in mind. Hence, today, we should discriminate between the hereditary nonsyndromic perifollicular fibromas, as documented by Civatte and Le Tréguilly and later by Birt et al., and the syndromic perifollicular fibromas, as delineated by Hornstein and Knickenberg.
Asunto(s)
Fibroma , Enfermedades del Cabello , Hamartoma , Neoplasias Cutáneas , Humanos , Neoplasias Cutáneas/patología , Fibroma/patología , Hamartoma/patología , SíndromeRESUMEN
Solitary hamartomatous polyps with identical pathological features of the typical hamartomas of the Peutz-Jegher syndrome are extremely rare. These solitary lesions lack the associated intestinal polyposis, classic mucocutaneous pigmentation, and family history typifying the Peutz-Jegher syndrome. We describe the case of a 31-year-old woman with a giant solitary gastric hamartoma endoscopically diagnosed and laparoscopically resected.
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Pólipos Adenomatosos , Hamartoma , Síndrome de Peutz-Jeghers , Neoplasias Gástricas , Femenino , Humanos , Adulto , Síndrome de Peutz-Jeghers/complicaciones , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/cirugía , Neoplasias Gástricas/patología , Pólipos Intestinales/complicaciones , Pólipos Intestinales/cirugía , Pólipos Intestinales/patología , Hamartoma/diagnóstico por imagen , Hamartoma/cirugía , Hamartoma/patologíaRESUMEN
ABSTRACT: Rhabdomyomatous mesenchymal hamartoma (RMH) typically presents as a congenital midline head and neck cutaneous polyp in infants. Perianal and mucocutaneous lesions have been reported, and recently, acquired adult-onset variants have been proposed. This makes the true prevalence, etiopathogenesis, and clinicopathologic distribution and classification of RMHs in children compared with those in adults uncertain. We performed a retrospective review to highlight the salient histopathologic, histochemical, and immunohistochemical features in RMHs and to emphasize their specific clinicopathologic criteria to avoid diagnostic pitfalls. We found 4 (0.3%) infants [2 female infants and 2 male infants, average age: 4 months] with mental, nasal, lingual, and perianal midline RMHs (average size: 1.0 cm) of 1303 patients with cutaneous polypoid lesions. Three were isolated, and 1 was associated with Goldenhar syndrome. The cutaneous polyps demonstrated intermixed skeletal muscle, adipose, and fibrocollagenous core stroma that extended into the dermis and around the dermal appendages. The lingual lesion demonstrated skeletal muscle and fibrocollagenous stroma with prominent nerve bundles and little adipose tissue. All showed interstitial loose mesenchyme. Masson trichome demarcated the triphasic stromal components. Alcian blue demonstrated the loose myxoid mesenchyme. Elastic van Gieson did not show elastic fibers. Desmin demonstrated the skeletal muscle bundles, S100 highlighted the adipose tissue lobules and the nerve bundles, and CD34 displayed the mesenchymal stroma. Ki67 showed a low proliferation index in the loose mesenchyme. Smooth muscle actin did not reveal smooth muscle bundles, but with CD31, they highlighted the thick blood vessels. CD117 revealed prominent mast cells. From our retrospective review series, 4 cases that originally diagnosed as RMHs were excluded. Likewise, we found some examples of the reported cases in the English literature that might have been mistaken for RMHs. This is because they did not fulfill the diagnostic clinicopathologic criteria. RMH constitutes a rare entity with specific clinicopathologic features. Most lesions are isolated. Some are associated with congenital anomalies and syndromes. Strict clinicopathologic diagnostic criteria should be applied to avoid mislabeling look-alike lesions for RMHs.
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Hamartoma , Inmunohistoquímica , Humanos , Hamartoma/patología , Masculino , Femenino , Lactante , Estudios Retrospectivos , Rabdomioma/patología , Enfermedades de la Piel/patología , Mesodermo/patologíaRESUMEN
ABSTRACT: Nevus sebaceus is a rare congenital hamartoma with clinical and histopathological features that change with puberty. It has been associated with a number of secondary neoplasms, most of which are thought to derive from follicular germ cells. In this article, the authors describe a total of 3 cases of combined melanocytic nevus and nevus sebaceus to highlight this rare finding.
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Nevo Pigmentado , Neoplasias Cutáneas , Humanos , Nevo Pigmentado/patología , Nevo Pigmentado/congénito , Neoplasias Cutáneas/patología , Masculino , Femenino , Adolescente , Niño , Hamartoma/patología , Hamartoma/congénito , AdultoRESUMEN
We report a case of fetal nasal chondromesenchymal hamartoma (NCMH) first noted on prenatal ultrasound at 34 weeks. A solid-cystic mass which predominantly hyperechoicgenic and relatively clear margin, was located on the left nasal cavity and pharynx, with anterior extension and moderate blood flow. Further follow-up ultrasound examination depicted an enlargement of the tumor. Fetal magnetic resonance imaging (MRI) showed an inhomogeneous signal lesion involving the ethmoid sinuses, nasal cavity, and pharynx. The infant, delivered via cesarean section at 37 + 5 weeks, required urgent neonatology intervention due to respiratory difficulties. Neonatal MRI and computer tomography were subsequently performed at 1 day after birth. Surgical excision occurred at 7 days, confirming NCMH via histological examination. Awareness of this entity, is essential to avoid potentially harmful therapies, especially in prenatal period. Considered NCMH in diagnosis when fetal nasal masses presenting with predominantly high-level echo, well-defined margins and moderate vascularity.
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Cesárea , Hamartoma , Embarazo , Lactante , Recién Nacido , Humanos , Femenino , Diagnóstico Diferencial , Hamartoma/diagnóstico por imagen , Hamartoma/patología , Feto/patología , Diagnóstico Prenatal , Imagen por Resonancia MagnéticaRESUMEN
BACKGROUND: Congenital pseudarthrosis of the tibia (CPT) is a rare disease. CPT is often unilateral and occurs between the middle and distal third of the tibia. Concurrent involvement of the fibula is present in more than half of cases. histologic studies indicate the presence of fibrous hamartoma tissue and a sick periosteum, which leads to recalcitrant bone fracture and, eventually, pseudoarthrosis. Although there are various surgical techniques, we intend to compare the 2 methods of external fixation versus internal plating. METHODS: Demographic data were collected from 26 patients with frank pseudoarthrosis. After exclusion criteria, patients were compared in groups A (12 patients) and B (11 patients). Resection of hamartoma and sclerotic bone, intramedullary rodding and autologous bone, and periosteal grafting were performed for all patients. In group A, we used a ring external fixator for compression and rotational stability, but in group B, a locking plate was used for these purposes. RESULTS: Plating takes less time to use during surgery. In group A, the primary bony union was obtained in 67% of patients, while in group B, 82% of patients had a primary union. Meanwhile, the average time till the final union in group A was 6 months, while in group B, this time was 3.5 months. Positive union mass was obtained in 58% of the patients in group A and 82% of group B. In addition, plating prevented ankle valgus deformity in group B. CONCLUSIONS: Permanent intramedullary rodding is a surgical requirement for correction of deformity and refracture prevention, but additional stability can be achieved with the use of a ring external fixator or internal plate. Cross union and positive union mass are 2 important factors in the treatment of pseudoarthrosis; these results are achieved to a greater extent and in a shorter period of time using the plate. LEVEL OF EVIDENCE: level IV - case series.
Asunto(s)
Fijación Intramedular de Fracturas , Hamartoma , Seudoartrosis , Seudoartrosis/congénito , Fracturas de la Tibia , Humanos , Tibia/cirugía , Tibia/patología , Seudoartrosis/cirugía , Fracturas de la Tibia/cirugía , Fracturas de la Tibia/patología , Fijación Intramedular de Fracturas/métodos , Fijadores Externos , Peroné , Placas Óseas , Estudios Retrospectivos , Hamartoma/patología , Resultado del TratamientoRESUMEN
BACKGROUND: Respiratory epithelial adenomatoid hamartoma (REAH) is a benign lesion commonly occurring in the nasal cavity and sinuses. It is often accompanied by nasal polyps (NP). While the histological features of these two conditions have been studied, there is limited knowledge about their differences in the underlying immunopathology. METHODS: Nasal tissue specimens were collected from 8 patients with concurrent REAH and NP and 10 controls. The expression levels of inflammatory cytokines, tight junctions (TJ), and epithelial-mesenchymal transition (EMT)-related factors in the tissues were analyzed. The mRNA expression of the aforementioned factors was measured using qRT-PCR, while the expression of TJ and EMT-related proteins was analyzed through Western blotting and immunohistochemistry. RESULTS: Compared to the control group, levels of inflammatory cytokines (IFN-α, IL-5, IL-17A, IL-31, IL-33, and TNF-α) and EMT-related factors (α-SMA, COL1A1, MMP9, TGF-ß1, and Vimentin) were significantly increased in both REAH and NP tissues. Conversely, E-Cadherin and TJ-related factors (Claudin-4 and Occludin) significantly decreased. When comparing REAH with NP, it was observed that the expression of IL-4, IL-5, and IL-33 was lower in REAH, while TNF-É; was higher. Regarding TJ-related factors, the expression of Occludin was lower in REAH. Furthermore, in terms of EMT-related factors, except for E-Cadherin, the expressions of É-SMA, COL1A1, CTGF, MMP9, TGF-ß11, and Vimentin were higher in REAH. CONCLUSION: REAH and NP exhibit different immunopathological mechanisms. NP demonstrates a more severe inflammatory response, whereas REAH is characterized by a more pronounced TJ and EMT breakdown than NP.
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Transición Epitelial-Mesenquimal , Hamartoma , Pólipos Nasales , Humanos , Pólipos Nasales/patología , Pólipos Nasales/metabolismo , Pólipos Nasales/inmunología , Hamartoma/patología , Hamartoma/metabolismo , Hamartoma/genética , Masculino , Femenino , Persona de Mediana Edad , Adulto , Citocinas/metabolismo , Mucosa Respiratoria/patología , Mucosa Respiratoria/metabolismo , InmunohistoquímicaRESUMEN
Dear editor, 50 years-old female with personal history of mutation of the gene BRCA1 and previous prophylactic double anexectomy consulted for rectal bleeding without pain since two weeks. A blood test was performed, with hemoglobin levels of 13.1g/dl and without iron deficiency. In the anal inspection there were neither external hemorrhoids nor anal fistulas, so a colonoscopy was requested. In the colonoscopy, all the colon mucosa was normal but, in the rectal retroflexion, apart from internal engorged hemorrhoids, surrounding the 50% of the anal opening an erythematous and indurated mucosa was found (figure 1). Biopsies were taken. The pathology report informed of proliferation of spindle-shaped cells exclusively in the lamina propria with eosinophilic cytoplasm and unclear cell borders (figure 2). Not nuclear atypia or mitotic activity were observed. On immunohistochemistry, S-100 protein was strongly positive (figure 3) and CD34, SMA, EMA and c-kit were negative. These results are concordant with the diagnosis of Schwann cells in the context of a mucosal Schwann cell hamartoma (MSCH). Given that these lesions seem to not have malignant potential, the patient was discharged without control colonoscopies. The episodes of rectorrhagia were attributed to the presence of internal hemorrhoids. Discussion: MSCH are benign and intramucosal tumors with a mesenchymal origin. They are most commonly located in the distal colon, but they were also found in the gallbladder, the esophagogastric union and in the antrum. They are observed most frequently in middle aged women (around 60 years-old) and they are generally asymptomatic. They are presented as polyps between 1 and 6mm, but in other cases they appeared as small whitish nodules, protruding lesions with normal superficial mucosa or even they were found in random biopsies of the colon. The MSCH are a rare entity with an unknown prevalence. Less than 100 cases are described in the literature. It is essential the differentiation between this entity and the Schwanomas or the gastrointestinal stromal tumors (GIST). Schwanomas are rare in the colon, they are well circumscribed (in contrast with the MSCH) and they are not limited to the lamina propria. GIST are more frequently located in the stomach and they are positive for c-kit. MSCH are not associated with hereditary syndromes such as neurofibromatosis and, in contrast with Schwanomas or GIST, they do not require surveillance because they are benign.
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Tumores del Estroma Gastrointestinal , Hamartoma , Hemorroides , Persona de Mediana Edad , Humanos , Femenino , Tumores del Estroma Gastrointestinal/patología , Hemorroides/metabolismo , Hemorroides/patología , Hamartoma/patología , Mucosa Intestinal/patología , Células de Schwann/patologíaRESUMEN
Objective: To explore the clinicopathological and molecular genetic features of adult hepatic mesenchymal hamartoma (MHL). Methods: A total of five confirmed adult MHL cases diagnosed at the Pathology Department of the First Medical Center of the People's Liberation Army General Hospital between 2009 and 2022 were collected. Histomorphological observation and immunohistochemical staining were conducted. Gene detection was performed by next-generation sequencing. Results: Among the five cases, four were male and one was female, aged 46-67 years, with an average age of 56.2 years. The maximum diameter was 5.3-13.5cm, and the average diameter was 9.2cm. Tumors were generally cystic, solid, or mixed cystic-solid. Histopathologically, in four out of five cases of MHL, malignant transformation occurred, of which three cases were malignantly transformed into undifferentiated embryonal sarcoma and one case was malignantly transformed into a malignant solitary fibrous tumor. NAB2-STAT6 gene rearrangements were identified. Conclusion: Adult MHL is a rare kind of tumor with malignant potential, and it is difficult to diagnose with preoperative imaging examinations. A fine-needle biopsy is rarely used for diagnosis, but surgical resection of symptomatic or enlarged lesions is recommended to rule out the possibility of malignancy and further diagnosis. Genetic testing results revealed the complex genetic alterations in MHL, and it was found that adult MHL can malignantly transform into malignant solitary fibrous tumors. We believe that genome-wide analysis is necessary to determine the unique molecular characteristics of MHL and identify potential targets for therapeutic intervention.
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Hamartoma , Neoplasias Hepáticas , Sarcoma , Adulto , Humanos , Masculino , Femenino , Persona de Mediana Edad , Neoplasias Hepáticas/patología , Sarcoma/genética , Sarcoma/patología , Hamartoma/diagnóstico , Hamartoma/patología , Hamartoma/cirugía , Mutación , Biomarcadores de TumorRESUMEN
Two children are presented who have a distinct syndrome of multiple buccolingual frenula, a stiff and short fifth finger with small nails, a hypothalamic hamartoma, mild to moderate neurological impairment, and mild endocrinological symptoms. No variant assessed to be pathogenic or likely pathogenic was detected in the GLI3 gene in either child. This syndrome appears to be distinct from the inherited Pallister-Hall syndrome associated with GLI3 variants, which is characterized by hypothalamic hamartoma, mesoaxial polydactyly, and other anomalies. In the individuals described here, manifestations outside of the central nervous system were milder and the mesoaxial polydactyly, which is common in individuals with Pallister-Hall syndrome, was absent. Instead, these children had multiple buccolingual frenula together with the unusual appearance of the fifth digit. It remains unclear whether these two individuals represent a separate nosologic entity or if they represent a milder manifestation of one of the more severe syndromes associated with a hypothalamic hamartoma.
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Hamartoma , Enfermedades Hipotalámicas , Síndrome de Pallister-Hall , Polidactilia , Niño , Humanos , Síndrome de Pallister-Hall/diagnóstico , Síndrome de Pallister-Hall/genética , Hamartoma/diagnóstico , Hamartoma/genética , Hamartoma/patología , Enfermedades Hipotalámicas/diagnóstico , Enfermedades Hipotalámicas/genética , Enfermedades Hipotalámicas/patología , Polidactilia/genéticaRESUMEN
BACKGROUND AND AIMS: In familial adenomatous polyposis (FAP), neoplastic lesions outside the colon have become increasingly important. The genotype-phenotype correlation has been established for duodenal polyps, and regular screening is recommended. However, this correlation remains unclear for small-intestinal lesions, except for reports on the relationship between their occurrence and Spigelman stage. Here, we used small-bowel capsule endoscopy (SBCE) to investigate the genotype-phenotype correlation of small-intestinal polyps in FAP. METHODS: The genotype-phenotype correlation of small-intestinal polyps was investigated in patients with FAP who underwent SBCE, Esophagogastroduodenoscopy (EGD), and adenomatous polyposis coli (APC) gene analysis. Of 64 patients with FAP who underwent SBCE, 41 were included in the final analysis, 4 did not undergo a complete small intestine examination, and 19 did not undergo genetic analysis. RESULTS: The prevalence (median number) of small-intestinal polyps by Spigelman stage was 26% (1.5), 0% (0), 44% (5), 60% (4), and 73% (25.5) for stages 0 to IV, respectively. Significantly more small-intestinal polyps were found in Spigelman stage III and IV groups than in the stage 0 group (P < .05). The APC variant was negative for 6 patients (15%), and the sites associated with more than 5 small-intestinal polyps were codons 278, 1062, 1114, 1281, 1307, 1314, and 1504. CONCLUSIONS: In FAP patients, SBCE surveillance is potentially recommended for patients with pathogenic variants in the APC gene at codons 278 and 1062 to 1504 or with Spigelman stage III or higher.
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Poliposis Adenomatosa del Colon , Endoscopía Capsular , Hamartoma , Humanos , Poliposis Adenomatosa del Colon/diagnóstico , Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/patología , Pólipos Intestinales/diagnóstico , Pólipos Intestinales/genética , Pólipos Intestinales/patología , Intestino Delgado/patología , Codón , Hamartoma/patología , Estudios de Asociación GenéticaRESUMEN
BACKGROUND: Respiratory epithelial adenomatoid hamartoma (REAH) is a sinonasal glandular overgrowth arising from the surface respiratory epithelium and invaginating into the stroma. Clinically, it appears as a polypoid mass that may cause nasal obstruction, anosmia, and epistaxis. The presence of cartilaginous and/or osseous areas move the lesion to a chondro-osseous respiratory epithelial (CORE) hamartoma subtype. Scattered small seromucinous glands may be observed between typical REAH glands and when it is the only feature, it represents seromucinous hamartoma (SH). The molecular pathogenesis of REAH has been poorly explored and remains unclear. Given that KRAS, BRAF, and EGFR mutations have been detected in a variety of sinonasal tumors, we aimed to assess these mutations in REAH and SH. METHODS: Ten REAH (including one CORE subtype), in addition to two SH cases, were Sanger sequenced by standard techniques. The targeted regions included KRAS exons 2-4 (encompassing hotspots codons 12, 13, 61, and 146), BRAF exons 11 and 15 (spanning the V600 codon), and EGFR exons 19 and 20. RESULTS: All REAH and SH samples showed wild-type sequences for KRAS, BRAF, and EGFR genes. CONCLUSION: Our results demonstrate a lack of KRAS, BRAF, or EGFR pathogenic variants with further evaluation of REAH and SH needed to elucidate driver genetic events.
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Adenoma , Hamartoma , Humanos , Proteínas Proto-Oncogénicas B-raf/genética , Proteínas Proto-Oncogénicas p21(ras)/genética , Mucosa Respiratoria/patología , Adenoma/patología , Hamartoma/genética , Hamartoma/diagnóstico , Hamartoma/patología , Receptores ErbB/genética , Diagnóstico DiferencialRESUMEN
Neurotropic melanoma is a rare type of malignant melanoma with nerve invasion or neural differentiation. Neurocristic cutaneous hamartoma is a rare, benign tumor of the skin and superficial soft tissue that arises from aberrant migration of neural crest cells. We report a rare case of a 74-year-old man with a clinically diagnosed giant congenital nevus of the right mid-back, histopathologically confirmed to be a neurocristic cutaneous hamartoma, who developed neurotropic spindle cell melanoma within the lesion. The patient was treated with serial re-excisions until clear margins were achieved.
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Hamartoma , Melanoma , Nevo Pigmentado , Enfermedades de la Piel , Neoplasias Cutáneas , Masculino , Humanos , Anciano , Neoplasias Cutáneas/patología , Melanoma/patología , Nevo Pigmentado/patología , Hamartoma/patología , Enfermedades de la Piel/patología , Melanoma Cutáneo MalignoRESUMEN
Syringocystadenoma papilliferum (SCAP), tubular apocrine adenoma (TAA), and eccrine nevus are rare benign sweat gland tumors with varied clinical presentations but generally distinctive histomorphologic profiles. TAA and SCAP have been associated with other cutaneous hamartomas, most commonly with nevus sebaceus. Additionally, TAA and SCAP have uncommonly co-occurred in the same lesion. In contrast to nevus sebaceus, eccrine nevus is considerably less common and is rarely associated with other benign adnexal lesions. Here we present an unusual case of a complex sweat gland hamartoma containing features of syringocystadenoma papilliferum, tubular apocrine adenoma, and eccrine nevus in a 7-year-old female.
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Hamartoma , Nevo , Neoplasias Cutáneas , Enfermedades de las Glándulas Sudoríparas , Neoplasias de las Glándulas Sudoríparas , Adenomas Tubulares de las Glándulas Sudoríparas , Femenino , Humanos , Niño , Adenomas Tubulares de las Glándulas Sudoríparas/patología , Neoplasias de las Glándulas Sudoríparas/patología , Hamartoma/patología , Nevo/patología , Glándulas Sudoríparas/patología , Neoplasias Cutáneas/patologíaRESUMEN
Fibrous hamartoma of infancy (FHI) is a very rare benign soft tissue lesion that principally affects the axilla, trunk, and upper extremities of children younger than 2 years. It is usually cured by local excision. Histologically, these lesions have a triphasic morphology in an organoid pattern: mature adipose tissue, fibroblastic/myofibroblastic trabeculae, and small round cell nests in a myxoid matrix. However, morphologic variants have recently been described. Focal areas with a pseudoangiomatous pattern have been found in some FHI, but few cases with predominant pseudoangiomatous areas have been previously described in the medical literature. We report 21 new cases of FHI, 8 of them with a predominant pseudoangiomatous pattern. Our cases with a predominant pseudoangiomatous pattern did not present specific radiological findings.
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Hamartoma , Neoplasias de Tejido Fibroso , Neoplasias Cutáneas , Neoplasias de los Tejidos Blandos , Niño , Humanos , Lactante , Hamartoma/diagnóstico por imagen , Hamartoma/patología , Axila/patología , Neoplasias de los Tejidos Blandos/patologíaRESUMEN
INTRODUCTION: Palate development involves a genetic regulation through a complex molecular mechanism that may be disrupted by environmental factors, resulting in impaired fusion and cleft palate formation. An encounter with a case of cleft palate due to dorsal tongue hamartoma prompted us to perform this systematic review. OBJECTIVE: To review the clinical profile and management approach for a case with cleft palate and tongue hamartoma. DESIGN: A systematic literature search was conducted using keywords related to cleft palate and tongue hamartoma in PubMed, Scopus, MEDLINE, and Scielo databases through December 2021, with no time or language restrictions. PATIENTS, PARTICIPANTS: Studies reporting patients with cleft palate and tongue hamartoma were included. MAIN OUTCOME MEASURE(S): Information related to clinical profile, diagnostic tests, histopathology, management, and outcomes were extracted.Fourteen relevant publications were identified with 16 cases reported so far. Among them, thirteen patients were females (81.25%), and 3 were males (18.75%). The age of presentation varied from birth to 19 years. Oral-facial-digital syndrome (type II) was the most commonly associated syndrome.Congenital tongue hamartoma with cleft palate is a rare presentation, which can present as an isolated entity or part of a syndrome. Genetic evaluation is warranted, particularly for multiple hamartomatous lesions. The preferred treatment is immediate excision of hamartoma while following a standard timeline for palatoplasty.
Asunto(s)
Fisura del Paladar , Hamartoma , Enfermedades de la Lengua , Masculino , Femenino , Humanos , Fisura del Paladar/complicaciones , Enfermedades de la Lengua/etiología , Enfermedades de la Lengua/cirugía , Lengua/anomalías , Hamartoma/cirugía , Hamartoma/complicaciones , Hamartoma/patología , SíndromeRESUMEN
ABSTRACT: Eccrine angiomatous hamartoma (EAH) is a rare hamartoma characterized by a benign proliferation of eccrine glands and vascular structures in the dermis. These tumors rarely regress spontaneously, so surgical excision of the involved tissue is required when pain or enlargement occurs. Here, the authors report the clinical case of a patient affected by an extremely painful EAH with the atypical localization at the last phalanx of the thumb of the right hand with involvement of nail matrix and nail bed. This report aims to emphasize the application of Mohs micrographic surgery for the treatment of painful EAH in a very difficult area at potential risk of amputation while preserving the maximum anatomical integrity and function of the damaged area. These results can pave the way for the use of Mohs micrographic surgery for very carefully selected benign neoplasms when their surgical removal is required.
Asunto(s)
Hamartoma , Enfermedades de las Glándulas Sudoríparas , Humanos , Cirugía de Mohs , Enfermedades de las Glándulas Sudoríparas/diagnóstico , Enfermedades de las Glándulas Sudoríparas/cirugía , Enfermedades de las Glándulas Sudoríparas/patología , Glándulas Ecrinas/patología , Glándulas Ecrinas/cirugía , Hamartoma/complicaciones , Hamartoma/cirugía , Hamartoma/patología , Mano , DolorRESUMEN
A 17-year-old male with no previous medical history presented with a 1-year history of rectal bleeding, mucus discharge and occasional rectal prolapse. Colonoscopy revealed several polypoidal growth masses in the distal rectum, formed by multiple sessile polyps with a glistening mucus-covered surface and fleshy, friable appearance, that coalesced forming large conglomerates. Given their complexity and large size, piecemeal endoscopic mucosal resection of the rectal lesions was performed and histopathological examination revealed ulcerated polypoid mucosa with mixed inflammatory cell infiltrate in the lamina propria and dilated cystic mucus-filled glands. Remarkably, bony trabeculae surrounded by osteoblastic cells were also seen. These findings were consistent with juvenile polyps with foci of osseous metaplasia. Osseous metaplasia has been described in a wide variety of tissue types, such as prostate, uterus, breasts, lungs and urinary tract, with respect to both neoplastic and non-neoplastic conditions. However, it is exceedingly rare in colonic polyps and, to the best of our knowledge, only 9 cases have been described in juvenile polyps.