Hereditary Colorectal Cancer
Peter Sagar, Andrew G. Hill, Charles H. Knowles, Stefan Post, Willem A. Bemelman, Patricia L. Roberts, Susan Galandiuk, John R.T. Monson, Michael R.B. Keighley, Norman S. Williams in Keighley & Williams’ Surgery of the Anus, Rectum and Colon, 2019
Patients undergo colonoscopy for a variety of reasons, including screening, surveillance (follow-up of a neoplasm) and symptoms. Findings that suggest a hereditary syndrome include an advanced neoplasm in a young patient (age 40) and multiple polyps that may be synchronous (>10 adenomas, >5 juvenile polyps, >2 hamartomas) or metachronous (>20 adenomas) (Table 42.3). Grover et al. used data from genetic testing laboratory to show that patients with 10–19 adenomas in their colon had risks of attenuated familial adenomatous polyposis (AFAP) of 5% and MYH-associated polyposis (MAP) of 4%. With 20–100 adenomas, the risks of carrying a germline mutation of either APC or MYH approximately doubled.5 Ten or more synchronous adenomas or >20 cumulative adenomas are therefore valid indications for germline genetic testing. Similarly the presence of multiple hamartomas suggests that genetic testing is indicated.6 Multiple serrated polyps indicate Serrated Polyposis Syndrome (SPS), and because of the phenotypic overlap of syndromes, panel testing is indicated. 7
Developmental Disorders
Jeremy R. Jass in Understanding Pathology, 2020
Developmental tumours are a rare cause of death in the perinatal period but some may be lethal in childhood. The three main types of developmental tumour are hamartomas, teratomas and the family of malignant tumours of childhood or ‘blastomas’ (see page 146). A hamartoma is a tumour-like mass formed of an excess of disorganised tissues normally found at the site of origin of the mass. The concept of developmental tumours raises the question of the relationship between maldevelopment and neoplasia. Recent observations such as the following are beginning to blur distinctions that were once held rigidly: Many inherited syndromes due to single gene defects produce malformations in some organs and neoplasms in others.Mutations involving cancer genes are being described with increasing frequency in focal lesions described as hamartomatous, hyperplastic, metaplastic or cystic.Genes implicated in the control of embryological development have been shown to serve as tumour suppressor genes (e.g. cdx2 and ptc)(Hahn et al., 1996; Wicking et al., 1998).A number of lesions have always fallen between the categories of simple hamartomas and bona fide neoplasms (e.g. haemangiomas, pigmented nevi of the skin and neurofibromas).
Tuberous Sclerosis
Sunjay Parmar, Pamela Shaw in Neurology, 2017
Pathophysiology: autosomal dominant; defect in TSC1 (on chr. 9 coding for hamartin) and TSC2 (on chr. 16 coding for tuberin) genes. These pro- teins normally act synergistically to regulate cell proliferation and differentiation. Mutation leads to cell dysregulation → hamartoma formation (non- malignant). These can affect many organ systems:Glioneuronal hamartomas are known as tubers (hence the namesake), referring to the patho- logical fi of thick, hardened and pale gyri in the brains of patients post mortem
Recurrent respiratory epithelial adenomatoid hamartoma of the nasal cavity
Published in Baylor University Medical Center Proceedings, 2022
Dhananjay Kumar, K. K. Handa, Aru Handa, Poonam Gautam
A hamartoma is a benign malformation or congenital error of tissue development and is indigenous to a specific part of the body. The term was first used by Albrecht in 1904. It is common in the lung, kidney, liver, spleen, and intestine but rare in the head and neck region, particularly the nasal cavity and paranasal sinuses. Respiratory epithelial adenomatoid hamartoma (REAH) is the most common hamartoma of the sinonasal tract, first recognized by Wenig and Heffner in 1995. It is defined as a tumor originating from the surface epithelium with excessive proliferation of glandular elements but not originating from the seromucinous gland. The usual age of occurrence is the third to ninth decade, and the male-to-female ratio is 3:2. Most REAHs are unilateral and occur in the posterior nasal septum; less commonly they arise in the middle meatus, lateral nasal wall, ethmoid sinus, maxillary sinus, inferior turbinate, and nasopharynx.1 The clinical presentation includes nasal obstruction, congestion, epistaxis, rhinorrhea, chronic sinusitis, facial pain, headache, and olfactory dysfunction. REAH can be misdiagnosed as inverted papilloma or well-differentiated adenocarcinoma clinically as well as histopathologically. Thus, it is important to make the correct diagnosis, as complete excision through a conservative approach is the treatment of choice for REAH.2
Fetal hydrops – a review and a clinical approach to identifying the cause
Published in Expert Opinion on Orphan Drugs, 2020
Esther Dempsey, Tessa Homfray, John M Simpson, Steve Jeffery, Sahar Mansour, Pia Ostergaard
The three most common types of cardiac tumor in fetuses, newborns and children are rhabdomyomas (60%), teratomas (25%) and fibromas (12%) [66]. On ultrasound, rhabdomyomas often present in multiple as homogenous, hyperechogenic masses of varying sizes [66]. They are considered to be hamartomas as they are overgrowths of tissue that is normally present rather than being neoplastic [67]. The masses are usually located in the ventricles and septal walls but are occasionally found in the atria and pericardium. In one metanalysis by Chao et al. (2008) of fetuses with cardiac rhabdomyomas, 63.9% (85/133) were identified as having tuberous sclerosis complex and more than 80% of those with multiple rhabdomyomas. The authors also found that larger tumors increased the risk of developing hemodynamic compromise and rhythm disturbance and in turn the development of nonimmune fetal hydrops and a high risk of fetal demise [68]. Recently, mTOR inhibitors such as sirolimus have been used for intra-uterine treatment but this remains a matter of debate given the potential maternal side effects [182,183].
Long-term follow-up of adult patient with neurofibromatosis type 1 with retinal astrocytic hamartoma using spectral-domain optical coherence tomography: a review of the literature and a report of a case
Published in Ophthalmic Genetics, 2021
Solmaz Abdolrahimzadeh, Martina Formisano, Luca Scuderi, Siavash Rahimi
The exact nosographic definition of neural proliferation of the retina associated or unrelated to TSC and NF1 is difficult, if not impossible. Classically, clinically benign lesions are called hamartoma and locally aggressive lesions are called astrocytoma. However, due to the limited number of reported cases and the scarcity of histopathological analysis, the boundary between these entities is not straightforward and clinically aggressive lesions have been also called hamartoma. The classification of these lesions, by nature, is based on histopathological grounds; however, there are only few descriptions in the literature that are rather dated and describe very basic morphological features, some with electron microscopy findings, but no immunohistochemical analysis (6,34,35). The authors do not mention if there was nuclear atypia, necrosis, and mitoses. The neoplasms reported in these articles were composed of spindle-shaped cells immersed in a fibrillar network formed by the cellular processes, consistent with astrocytic proliferation. The authors called these lesions hamartoma. Martin et al. used the term “hamartoma” without histopathological analysis of the neoplasms (36).
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