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Fulltext Thyroid carcinoma in patients with familial adenomatous polyposis

Rohaizak M, Jasmi AY, Ismail MA, Munchar MJ, Meah FA

Asian J Surg, 2003 Jul;26(3):183-5.
PMID: 12925296 DOI: 10.1016/S1015-9584(09)60381-X

There has been a growing awareness of the association between papillary thyroid carcinoma and familial adenomatous polyposis (FAP). The cases of four young patients with papillary thyroid carcinoma occurring with FAP are presented. Three patients underwent surgery to provide specimens for detailed histological examination. The surgical specimens showed well-encapsulated multicentric tumours exhibiting a predominantly papillary architectural growth pattern. In some areas, follicular architecture and cribriform patterns were noted. Atypical areas of spindle cells in a trabecular or solid configuration, which are not normally seen in classical papillary thyroid carcinoma, were evident. Malignant cells exhibited a graduation of cuboidal to tall cells with abundant amphophilic cytoplasm. The nuclei did not exhibit the typical nuclear clearing as seen in papillary thyroid carcinoma, but nuclear grooving and inclusions were noted. Psammoma bodies were not seen in any of the specimens. In a limited review of these patients, features such as young age at presentation, multicentricity and unusual histology suggest that thyroid carcinoma associated with FAP may represent a distinct form of thyroid cancer.

Matched MeSH terms: Biopsy, Needle
Malignant transformation of mesenchymal hamartoma of the liver: case report and review of the literature

Ramanujam TM, Ramesh JC, Goh DW, Wong KT, Ariffin WA, Kumar G, et al.

J Pediatr Surg, 1999 Nov;34(11):1684-6.
PMID: 10591570

Here the first case in the literature of both mesenchymal hamartoma and malignant mesenchymoma occurring in a 6-year-old male child, at different times and at different sites in the liver, and also the possible malignant transformation of a mesenchymal hamartoma is reported. The tumor developed from a lesion in the right lobe that was overlooked initially during a left lateral segmentectomy at 18 months of age for a mesenchymal hamartoma. Malignant mesenchymoma is a rare and aggressive tumor. The origin of this tumor is not well understood. There has been no direct support to the hypothesis that malignant mesenchymoma may be the malignant counterpart of mesenchymal hamartoma. The authors provide clinical and histopathologic evidence in our case that suggests the possibility of malignant mesenchymoma arising from a mesenchymal hamartoma. This case emphasizes the need for complete removal of mesenchymal hamartoma and the need for long-term follow-up to detect multifocal lesion or malignant transformation.

Matched MeSH terms: Biopsy, Needle
Bullous pemphigoid--management of a patient with oral and skin lesions

Ali TB, Zain RB, Adam BA

Singapore Dent J, 1994 Jan;19(1):18-21.
PMID: 9582679

A case of bullous pemphigoid with extra-oral and intraoral lesions in a 60-year-old female is reported. Diagnosis is based on histopathology and direct immunofluorescence, and the treatment regime described included oral prescription of prednisolone and topical application of a mixture of fluocinonide ointment and triamcinolone acetonide in Orabase on the oral lesions.

Matched MeSH terms: Biopsy
Histopathology of lymph nodal tuberculosis--university hospital experience

Jayalakshmi P, Malik AK, Soo-Hoo HS

Malays J Pathol, 1994 Jun;16(1):43-7.
PMID: 16329575

Fifty-nine cases of tuberculous cervical lymphadenitis were analysed histologically. Characteristic epithelioid cell granulomas were seen in all the cases with central areas of caseation necrosis in 96.6% (57/59) of these cases. The diagnosis of tuberculosis was further established by the demonstration of acid-fast bacilli (AFB) in the tissue sections in 29 cases. These AFB, although occasional, were found more frequently within the epithelioid cells as compared with other zones of the granuloma. There was no significant association between necrosis and bacillary content. We conclude that light microscopical assessment is still a useful screening method to diagnose tuberculosis in cases of cervical lymphadenopathy.

Matched MeSH terms: Biopsy
Multifocal mucus secreting papillary adenocarcinoma of the bile duct causing obstructive jaundice

Khan TF, Sherazi ZA, Alias NA, Mahmood Z

Ann Acad Med Singap, 1993 Mar;22(2):251-3.
PMID: 8363342

We present a 64-year-old Malay lady who had undergone a choledochoduodenostomy (CDD) two years ago for obstructive jaundice. She was admitted with jaundice and underwent ultrasonography, percutaneous transhepatic cholangiography (PTC), endoscopic retrograde cholangio pancreatography (ERCP) and computed tomographic (CT) scanning of the liver and biliary tree. All the investigations confirmed a type IVa choledochal cyst. At operation, the grossly dilated biliary system was packed with a thick mucoid material and the mucosa of the bile ducts was visibly abnormal with scattered nodules. This mucoid material had caused occlusion of the entire biliary tree resulting in obstructive jaundice. To the best of our knowledge, this is probably the first report of obstructive jaundice caused by thick mucus. The peculiar management problems of this case and the risk of malignant change in choledochal cysts are discussed.

Matched MeSH terms: Biopsy
Serological markers in the diagnosis of histopathological types of nasopharyngeal carcinoma

Sam CK, Prasad U, Pathmanathan R

Eur J Surg Oncol, 1989 Aug;15(4):357-60.
PMID: 2547665

The titres of IgA against Epstein-Barr virus, viral capsid antigens and the titres of IgG against early antigen were found to be useful markers for the diagnosis of different histopathological types of nasopharyngeal carcinoma.

Matched MeSH terms: Biopsy
A comparative study of four methods for detecting Giardia lamblia in children with diarrheal disease and malabsorption

Kamath KR, Murugasu R

Gastroenterology, 1974 Jan;66(1):16-21.
PMID: 4809494
Matched MeSH terms: Biopsy
Paroxysmal Hypertension Associated With Urination

Lou Y, Fan L, Hou X, Dominiczak AF, Wang JG, Staessen JA, et al.

Hypertension, 2019 11;74(5):1068-1074.
PMID: 31564165 DOI: 10.1161/HYPERTENSIONAHA.119.13140
Matched MeSH terms: Biopsy, Needle
Prediction of lymph node involvement in patients with breast tumors measuring 3-5 cm in a middle-income setting: the role of CancerMath

Pijnappel EN, Bhoo-Pathy N, Suniza J, See MH, Tan GH, Yip CH, et al.

World J Surg, 2014 Dec;38(12):3133-7.
PMID: 25167896 DOI: 10.1007/s00268-014-2752-3

In settings with limited resources, sentinel lymph node biopsy (SNB) is only offered to breast cancer patients with small tumors and a low a priori risk of axillary metastases.

Matched MeSH terms: Sentinel Lymph Node Biopsy
Predictors of axillary lymph node metastases in breast cancer: is there a role for minimal axillary surgery?

Yip CH, Taib NA, Tan GH, Ng KL, Yoong BK, Choo WY

World J Surg, 2009 Jan;33(1):54-7.
PMID: 18958521 DOI: 10.1007/s00268-008-9782-7

Axillary nodal status is one of the most important prognostic factors in breast cancer. In the present study we used it to determine the predictors of axillary lymph node metastases in breast cancer and to determine if there is a group of patients in whom minimal axillary surgery is indicated.

Matched MeSH terms: Sentinel Lymph Node Biopsy
Fulltext Pyoderma gangrenosum and cobalamin deficiency in systemic lupus erythematosus: a rare but non fortuitous association

Teoh SC, Sim CY, Chuah SL, Kok V, Teh CL

BMC Rheumatol, 2021 Mar 03;5(1):7.
PMID: 33653418 DOI: 10.1186/s41927-021-00177-4

BACKGROUND: Pyoderma gangrenosum (PG) is an uncommon, idiopathic, ulcerative neutrophilic dermatosis. In many cases, PG is associated with a wide variety of different disorders but SLE in association with PG is relatively uncommon. In this article we present the case of a middle aged patient with PG as the initial clinical presentation of SLE. We also provide a brief review of cobalamin deficiency which occurred in our patient and evidence-based management options.
CASE PRESENTATION: A 35 years old man presented with a 5 month history of debilitating painful lower limb and scrotal ulcers. This was associated with polyarthralgia and morning stiffness involving both hands. He also complained of swallowing difficulties. He had unintentional weight loss of 10 kg and fatigue. Physical examination revealed alopecia, multiple cervical lymphadenopathies, bilateral parotid gland enlargement and atrophic glossitis. There was Raynaud's phenomenon noted over both hands and generalised hyper-pigmented fragile skin. Laboratory results disclosed anaemia, leukopenia, hyponatraemia and hypocortisolism. Detailed anaemic workup revealed low serum ferritin and cobalamin level. The autoimmune screen showed positive ANA, anti SmD1, anti SS-A/Ro 52, anti SSA/Ro 60, anti U1-snRNP with low complement levels. Upper gastrointestinal endoscopy with biopsies confirmed atrophic gastritis and duodenitis. Intrinsic factor antibodies and anti-tissue transglutaminase IgA were all negative. Punch biopsies of the leg ulcer showed neutrophilic dermatosis consistent with pyoderma gangrenosum. Based on the clinical findings and positive immunologic studies, he was diagnosed as systemic lupus erythematosus. His general condition improved substantially with commencement of corticosteroids, immunosuppressants and vitamin supplements.
CONCLUSIONS: We report a case of PG as the first manifestation of SLE which was treated successfully with immunosuppressants and vitamin supplements. Our report highlighted the need to consider connective tissue diseases such as SLE in a patient presenting with PG in order for appropriate treatment to be instituted thereby achieving a good outcome.

Matched MeSH terms: Biopsy
Ovarian and uterine leiomyosarcoma: which one is the primary?

Shafiee MN, Kah Teik C, Md Zain RR, Kampan N

Horm Mol Biol Clin Investig, 2019 Aug 09;41(2).
PMID: 31398145 DOI: 10.1515/hmbci-2019-0037

Uterine leiomyosarcoma (LMS) is rare but primary ovarian LMS is even rarer constituting less than 0.1% of all gynecologic disorders. Neither histologic features nor immunohistochemistry could be utilized to distinguish between uterine or ovarian origin. We illustrate a clinical case of metastatic LMS to the ovary in a woman with underlying uterine fibroid presenting with anemia with heavy menses.

Matched MeSH terms: Biopsy
Fulltext Neuroendocrine tumour of the lung: a diagnostic challenge

Nur Hidayah Bahrom, Anis Safura Ramli, Nor Suraya Samsudin, Norliana Dalila Mohamad Ali, Nor Salmah Bakar

Journal of Clinical and Health Sciences, 2019;4(2):97-104.
MyJurnal

This is a case of a 62-year-old Indian man who was diagnosed with a rare type of lung
neuroendocrine tumour (NET) of atypical carcinoid (AC) subtype which comprises only 0.1%–
0.2% of pulmonary neoplasms. He initially presented to a private hospital in May 2018 with a
6-month history of chronic productive cough and haemoptysis. Chest X-Ray (CXR), CT scan,
bronchoscopy, biopsy and broncho-alveolar lavage were conducted. At this stage, imaging and
histopathological investigations were negative for malignancy. Diagnosis of bronchiectasis was
made and he was treated with antibiotic and tranexamic acid. Due to financial difficulties, his
care was transferred to a university respiratory clinic in June 2018. His condition was monitored
with CXR at every visit and treatment with tranexamic acid was continued for 6 months.
However, due to persistent haemoptysis, he presented to the university primary care clinic in
Dec 2018. Investigations were repeated in January 2019 where his CXR showed increased
opacity of the left retrocardiac region and CT scan revealed a left lower lobe endobronchial
mass causing collapse with mediastinal lymphadenopathy suggestive of malignancy.
Bronchoscopy, biopsy and histopathology confirmed the presence of NET. Although the Ki-67
index was low, the mitotic count, presence of necrosis and evidence of liver metastases
favoured the diagnosis of AC. A positron emission tomography Ga-68 DONATOC scan showed
evidence of somatostatin receptor avid known primary malignancy in the lungs with suspicions
of liver metastasis. He was subsequently referred to the oncology team and chemotherapy was
initiated. This case highlights the challenge in diagnosis and management of patients with AC.
Physicians ought to be vigilant and have a high index of suspicion in patients who present with
persistent symptoms on multiple visits. Early diagnosis of NET would prevent metastasis and
provide better prognosis. Continuous follow-up shared care between primary care and
secondary care physicians is also essential to provide ongoing psychosocial support for
patients with NET, especially those with metastatic disease

Matched MeSH terms: Biopsy
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, et al.

Neurogenetics, 2019 08;20(3):117-127.
PMID: 31011849 DOI: 10.1007/s10048-019-00576-3

Charcot-Marie-Tooth (CMT) disease is a form of inherited peripheral neuropathy that affects motor and sensory neurons. To identify the causative gene in a consanguineous family with autosomal recessive CMT (AR-CMT), we employed a combination of linkage analysis and whole exome sequencing. After excluding known AR-CMT genes, genome-wide linkage analysis mapped the disease locus to a 7.48-Mb interval on chromosome 14q32.11-q32.33, flanked by the markers rs2124843 and rs4983409. Whole exome sequencing identified two non-synonymous variants (p.T40P and p.H915Y) in the AHNAK2 gene that segregated with the disease in the family. Pathogenic predictions indicated that p.T40P is the likely causative allele. Analysis of AHNAK2 expression in the AR-CMT patient fibroblasts showed significantly reduced mRNA and protein levels. AHNAK2 binds directly to periaxin which is encoded by the PRX gene, and PRX mutations are associated with another form of AR-CMT (CMT4F). The altered expression of mutant AHNAK2 may disrupt the AHNAK2-PRX interaction in which one of its known functions is to regulate myelination.

Matched MeSH terms: Biopsy
Anterior uveal and episcleral metastases from carcinoma of the breast

Reddy SC, Madhavan M, Mutum SS

Ophthalmologica, 2000 Sep-Oct;214(5):368-72.
PMID: 10965254 DOI: 10.1159/000027523

Breast carcinoma is the most common primary tumor producing intraocular metastasis. Metastases to the iris and ciliary body are relatively rare. The authors report a case of a 61-year-old lady, operated for carcinoma of the left breast 3 years back, who presented with symptoms and signs of acute narrow-angle glaucoma in the right eye. A diffuse whitish plaque-like mass in the upper nasal quadrant of the iris with an episcleral nodule on the limbus in the corresponding area and all the signs of acute narrow-angle glaucoma were present in the right eye. Intraocular pressure was controlled medically. Fine-needle aspiration cytology from the episcleral nodule showed malignant cells. Histopathology of the excised nodule showed metastatic poorly differentiated carcinoma, and the cellular pattern was similar to the carcinoma of the breast. There was no other metastasis anywhere in the body. Fine-needle aspiration cytology from an external lesion of the eye is a less invasive and easier procedure than paracentesis to diagnose the metastatic nature of the lesions. The rare features in our case are the clinical presentation as acute glaucoma and the ocular structures being the first and only site of metastasis.

Matched MeSH terms: Biopsy, Needle
Self-improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia

Bishnoi P, Ng YZ, Wei H, Tan EC, Lunny DP, Wong XFCC, et al.

Am J Med Genet A, 2021 02;185(2):625-630.
PMID: 33258232 DOI: 10.1002/ajmg.a.61975

Self-improving dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by significant improvement in skin fragility within the first few years of life. Genetic inheritance has previously been reported as autosomal dominant or recessive with both forms harboring mutations in COL7A1. To date, there have been no reports of this rare clinical entity from various Southeast Asian ethnicities. Here, we describe the clinical and molecular features of five patients from the Southeast Asia region who presented with predominantly acral-distributed blisters and erosions in the first few days of life. Blistering resolved over several months, without appearance of new blisters. By immunofluorescence, intraepidermal retention of Type VII collagen was observed in all patient skin biopsies when investigated with antibody staining. Genetic analysis of four patients revealed pathogenic variants in COL7A1 which have not been previously reported. The clinical diagnosis in these rare patients is confirmed with molecular histology and genetic characterization.

Matched MeSH terms: Biopsy
Resolution of rare palatal brown tumour after parathyroidectomy

Lim CT, Thevandran TK

Clin Exp Nephrol, 2017 Apr;21(2):352-353.
PMID: 27339441 DOI: 10.1007/s10157-016-1292-6
Matched MeSH terms: Biopsy
Oral histoplasmosis in Malaysia: A retrospective analysis of cases reported in Stomatology Unit, Institute for Medical Research during 1995-2016

Noratikah AH, Ajura AJ, Lau SH

Trop Biomed, 2018 Dec 01;35(4):1041-1048.
PMID: 33601851

Histoplasmosis is a systemic fungal infection caused by inhalation of Histoplasma capsulatum, which is mainly found in bird and bat droppings. Oral manifestation of histoplasmosis may be the only initial manifestation of the disease or associated with chronic disseminated histoplasmosis. The first review of oral histoplasmosis among Malaysian population from 1967 to 1994 (27 years) revealed the occurrence of 37 cases, reported by Ng and Siar in 1996. This current study is the updated overview of oral histoplasmosis cases in Malaysia. The objective of the study was to review and describe clinical and demographic profile of oral histoplasmosis in Malaysia and to correlate histopathological features of oral histoplasmosis with patient's immunity status. We reviewed oral histoplasmosis cases diagnosed in Stomatology Unit, Institute for Medical Research (IMR), Kuala Lumpur from 1995 until 2016. The data was retrieved from the Oral Pathology Information system (OPIS) Stomatology Unit, IMR, which is the largest oral pathology database in Malaysia. Information regarding patients' sociodemographic data, medical illness, clinical presentation, histopathological features, and referring healthcare institutions was extracted from the clinical information which accompanied the biopsy request form. A total of 39 cases of oral histoplasmosis were identified from 1995-2016. Majority of them were male (89.7%). The age ranges from 29 to 85 years with mean age of 57.8 years. Almost half of them were Malays (51.3%), followed by Chinese (33.3%), Indians (7.7%), and other races (7.7%). The most common sites of oral histoplasmosis were tongue, gingiva, palate, and alveolar ridge. The main clinical presentation was ulcer (61.5%) whereas 38.5% presented clinically as swelling. 17.9% of patients were seropositive for human immunodeficiency virus (HIV), 12.8% had tuberculosis, 10.3% had diabetes mellitus, and 2.6% with hepatitis C. The incidence of oral histoplasmosis should raise suspicion of hidden immunodepression and may be the first manifestation of acquired immunodeficiency syndrome (AIDS). Early recognition and diagnosis is crucial to reduce risk of morbidity and mortality.

Matched MeSH terms: Biopsy
Premolar Cystic Ameloblastoma in a Child

Pathak S, Sonalika WG, Hs V, Tegginammani AS

J Coll Physicians Surg Pak, 2017 Jan;27(1):47-48.
PMID: 28292369 DOI: 2521

Mandibular swellings may occur as a result of many benign lesions of odontogenic or non-odontogenic origin. Ameloblastomas are benign tumours of odontogenic origin, whose importance lies in its potential to grow into enormous size with resulting bone deformity, it is a slow-growing, persistent, and locally aggressive neoplasm. The unicystic ameloblastoma (UA) represents an ameloblastoma variant, presenting as a cyst clinically and radiographically, but showing typical ameloblastomatous epithelium lining histologically. It commonly occurs in second and third decades of life and is rare in children under 12 years of age, and better response to conservative treatment. It shares many clinical and radiographic features with odontogenic cysts/tumours and/or periapical disease of endodontic origin. Reported here is an unusual case of unicystic ameloblastoma involving the crown of an unerupted mandibular first premolar in a 9-year boy in an uncommon location, which was misdiagnosed as periapical lesion of inflammatory origin clinically, and as a dentigerous cyst radiographically. This highlights the importance to routinely submit the removed surgical specimen for histopathological examination.

Matched MeSH terms: Biopsy, Needle
Neutral pH and low-glucose degradation product dialysis fluids induce major early alterations of the peritoneal membrane in children on peritoneal dialysis

Schaefer B, Bartosova M, Macher-Goeppinger S, Sallay P, Vörös P, Ranchin B, et al.

Kidney Int, 2018 08;94(2):419-429.
PMID: 29776755 DOI: 10.1016/j.kint.2018.02.022

The effect of peritoneal dialysates with low-glucose degradation products on peritoneal membrane morphology is largely unknown, with functional relevancy predominantly derived from experimental studies. To investigate this, we performed automated quantitative histomorphometry and molecular analyses on 256 standardized peritoneal and 172 omental specimens from 56 children with normal renal function, 90 children with end-stage kidney disease at time of catheter insertion, and 82 children undergoing peritoneal dialysis using dialysates with low-glucose degradation products. Follow-up biopsies were obtained from 24 children after a median peritoneal dialysis of 13 months. Prior to dialysis, mild parietal peritoneal inflammation, epithelial-mesenchymal transition and vasculopathy were present. After up to six and 12 months of peritoneal dialysis, blood microvessel density was 110 and 93% higher, endothelial surface area per peritoneal volume 137 and 95% greater, and submesothelial thickness 23 and 58% greater, respectively. Subsequent peritoneal changes were less pronounced. Mesothelial cell coverage was lower and vasculopathy advanced, whereas lymphatic vessel density was unchanged. Morphological changes were accompanied by early fibroblast activation, leukocyte and macrophage infiltration, diffuse podoplanin presence, epithelial mesenchymal transdifferentiation, and by increased proangiogenic and profibrotic cytokine abundance. These transformative changes were confirmed by intraindividual comparisons. Peritoneal microvascular density correlated with peritoneal small-molecular transport function by uni- and multivariate analysis. Thus, in children on peritoneal dialysis neutral pH dialysates containing low-glucose degradation products induce early peritoneal inflammation, fibroblast activation, epithelial-mesenchymal transition and marked angiogenesis, which determines the PD membrane transport function.

Matched MeSH terms: Biopsy

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