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Breast carcinoma in women 35 years and younger: a pathological study

Fernandopulle SM, Cher-Siangang P, Tan PH

Pathology, 2006 Jun;38(3):219-22.
PMID: 16753742

To document the pathological features of breast carcinoma diagnosed in women aged 35 years or less.
Cytogenetic analysis of invasive breast cancer: a study of 27 Asian patients

Tan PH, Lui WO, Ong P, Lau LC, Tao M, Chong Y

Cancer Genet. Cytogenet., 2000 Aug;121(1):61-6.
PMID: 10958943

Tumor cytogenetic analysis from 27 patients with breast cancer diagnosed at the Singapore General Hospital revealed complex karyotypic aberrations in 12 cases. The study group comprised 25 women and 2 men, ranging in age from 33 to 78 years (median 52 years). Ethnic distribution consisted of 22 Chinese, 3 Malaysian, and 2 Indian patients. Pathologic assessment disclosed 24 invasive ductal, 2 invasive mucinous, and 1 mixed invasive mucinous and ductal carcinomas. Histologic grading showed 3 grade 1, 10 grade 2, and 12 grade 3 tumors; 2 cancers were not graded, because they had been subjected to prior chemotherapy. Tumor sizes ranged from 1.5 to 10 cm (median 3 cm). Eleven cases were axillary node negative, whereas the remaining 16 node-positive cancers affected as many as 3 nodes in 8 cases and 4 or more nodes in another 8. Twenty cases demonstrated estrogen-receptor positivity, and 8 cases progesterone-receptor positivity. The spectrum of cytogenetic abnormalities involved chromosomes 1, 3, 6, 7, 8, 11, 16, and 17 and ranged from gains and deletions of both long and short arms, trisomy, monosomy, and other rearrangements. There was a trend toward the presence of karyotypic abnormalities in tumors of higher grade.
Fulltext A Study on the Clinical Factors Associated with Acute Appendicitis and Perforated Appendicitis among Children in a Secondary Medical Centre in Malaysia

Tan PH, Teng XX, Gan ZY, Tan SQ

Malays J Med Sci, 2020 Jul;27(4):139-146.
PMID: 32863753 MyJurnal DOI: 10.21315/mjms2020.27.4.13

Background: Appendicitis complicated with appendiceal perforation is common among children. The delay in diagnosis of appendicitis is due to children's varied presentations and their difficulty in communicating symptoms. We aimed to identify clinical factors that aid in predicting acute appendicitis (AA) and perforated appendicitis (PA) among children.
Methods: This retrospective study involved 215 children aged 12 years and below with the initial diagnosis of AA and PA. Clinical factors studied were demographics, presenting symptoms, body temperature on admission (BTOA), white cell count (WCC), absolute neutrophil count (ANC), platelet count and urinalysis. Simple and multiple logistic regressions were used to determine the odds ratio of the statistically significant clinical factors. Results: The mean age of the included children was 7.98 ± 2.37 years. The odds of AA increased by 2.177 times when the age was ≥ 8 years (P = 0.022), 2.380 times when duration of symptoms ≥ 2 days (P = 0.011), 2.447 times with right iliac fossa (RIF) pain (P = 0.007), 2.268 times when BTOA ≥ 38 °C (P = 0.020) and 2.382 times when neutrophil percentage was ≥ 76% (P = 0.045). It decreased by 0.409 times with non-RIF pain (P = 0.007). The odds of PA was increased by 4.672 times when duration of symptoms ≥ 2 days (P = 0.005), 3.611 times when BTOA ≥ 38 °C (P = 0.015) and 3.678 times when neutrophil percentage ≥ 76% (P = 0.016). There was no significant correlation between WCC and ANC with AA and PA.
Conclusion: Older children with longer duration of symptoms, RIF pain and higher BTOA are more likely to have appendicitis. The risk of appendiceal perforation increases with longer duration of symptoms and higher BTOA.
Sun exposure and the risk of prostate cancer in the Singapore Prostate Cancer Study: a case-control study

Chia SE, Wong KY, Cheng C, Lau W, Tan PH

Asian Pac J Cancer Prev, 2012;13(7):3179-85.
PMID: 22994730

BACKGROUND: Most of the epidemiology studies on the effects of sun exposure and prostate cancer were conducted among the temperate countries of North America and Europe. Little is known about the influence on Asian populations. The purpose of current study was to evaluate any association of sun exposure with risk of prostate cancer in Chinese, Malays and Indians who reside in the tropics.
METHODS: The Singapore Prostate Cancer Study is a hospital-based case-control study of 240 prostate cancer incident cases and 268 controls conducted in Singapore between April 2007 and May 2009. Detailed information on outdoor activities in the sun, skin colour, sun sensitivity and other possible risk factors were collected in personal interviews. Cases were further classified by Gleason scores and TNM staging. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using unconditional logistic regression analysis, adjusted for age, ethnicity, education, family history of any cancers, BMI and skin colour.
RESULTS: We found that prostate cancer risk was increased in subjects with black/dark-brown eyes (OR 5.88, 95%CI 3.17-10.9), darker skin colour e.g. tan/dark brown/black (OR 7.62, 95%CI 3.41-17.0), frequent sunburn in lifetime (OR 4.30, 95%CI 1.7-11.2) and increased general sun exposure in adulthood per week (OR 2.03, 95%CI 1.09-3.81). The increased risk was consistent for high grade tumours and advanced stage prostate cancers.
CONCLUSION: The findings from this study suggest that excessive sun exposure is a risk factor for prostate cancer in Asians.
Phyllodes tumours of the breast: retrospective analysis of a University Hospital's experience

Toh YF, Cheah PL, Looi LM, Teoh KH, Tan PH

Malays J Pathol, 2016 Apr;38(1):19-24.
PMID: 27126660

Taking cognizance of the purported variation of phyllodes tumours in Asians compared with Western populations, this study looked at phyllodes tumours of the breast diagnosed at the Department of Pathology, University of Malaya Medical Centre over an 8-year period with regards to patient profiles, tumour parameters, treatment offered and outcome. Sixty-four new cases of phyllodes tumour were diagnosed during the period, however only 30 (21 benign, 4 borderline and 5 malignant) finally qualified for entry into the study. These were followed-up for 4-102 months (average = 41.7 months). Thirteen cases (8 benign, 3 borderline, 2 malignant) were Chinese, 9 (all benign) Malay, 7 (4 benign, 1 borderline, 2 malignant) Indian and 1 (malignant) Indonesian. Prevalence of benign versus combined borderline and malignant phyllodes showed a marginally significant difference (p=0.049) between the Malays and Chinese. Patients' ages ranged from 21-70 years with a mean of 44.9 years with no significant difference in age between benign, borderline or malignant phyllodes tumours. Except for benign phyllodes tumours (mean size = 5.8 cm) being significantly smaller at presentation compared with borderline (mean size = 12.5 cm) and malignant (mean size = 15.8 cm) (p<0.05) tumours, history of previous pregnancy, breast feeding, hormonal contraception and tumour laterality did not differ between the three categories. Family history of breast cancer was noted in 2 cases of benign phyllodes. Local excision was performed in 17 benign, 2 borderline and 3 malignant tumours and mastectomy in 4 benign, 2 borderline and 2 malignant tumours. Surgical clearance was not properly recorded in 10 benign phyllodes tumours. Six benign and all 4 borderline and 5 malignant tumours had clearances of <10 mm. Two benign tumours recurred locally at 15 and 49 months after local excision, however information regarding surgical clearance was not available in both cases. One patient with a malignant tumour developed a radiologically-diagnosed lung nodule 26 months after mastectomy, was given a course of radiotherapy and remained well 8-months following identification of the lung nodule.
ERRATUM: Phyllodes tumours of the breast: retrospective analysis of a University Hospital's experience

Toh YF, Cheah PL, Looi LM, Teoh KH, Tan PH

Malays J Pathol, 2016 08;38(2):175.
PMID: 27568677

No abstract available.
Radiological and clinical outcome of selective thoracic fusion for patients with Lenke 1C and 2C adolescent idiopathic scoliosis with a minimum follow-up of 2 years

Kwan MK, Chiu CK, Tan PH, Chian XH, Ler XY, Ng YH, et al.

Spine J, 2018 12;18(12):2239-2246.
PMID: 29733900 DOI: 10.1016/j.spinee.2018.05.007

BACKGROUND CONTEXT: In Lenke 1C and 2C curves, the choice between selective thoracic fusion (STF) versus non-selective thoracic fusion as the optimal surgical treatment is controversial.
OBJECTIVE: This study aimed to assess the radiological and clinical outcome of patients with Lenke 1C and 2C curves treated with STF.
STUDY DESIGN: This is a retrospective study.
PATIENT SAMPLE: A total of 44 patients comprised the study sample.
METHODS: Forty-four patients with Lenke 1C and 2C curves with adolescent idiopathic scoliosis who underwent STF were reviewed. Radiological parameters and Scoliosis Research Society (SRS)-22r scores were assessed preoperatively, postoperatively, and on final follow-up. The incidence of coronal decompensation, lumbar decompensation, and adding-on phenomenon were reported.
RESULTS: Mean follow-up duration was 45.1±12.3 months and mean age was 17.0±5.1 years. The preoperative middle thoracic and thoracolumbar/lumbar (MT:TL/L) Cobb angle ratio was 1.4±0.3 and the MT:TL/L apical vertebra translation (AVT) ratio was 1.6±0.8. Final follow-up coronal balance was -13.0±11.5 mm, main thoracic AVT was 6.9±11.8 mm, and lumbar AVT was -20.4±13.8 mm (p
Upper Instrumented Vertebrae (UIV) Tilt Angle Is an Important Postoperative Radiological Parameter That Correlates With Postoperative Neck and Medial Shoulder Imbalance

Chan CYW, Chiu CK, Ler XY, Ng YH, Chian XH, Tan PH, et al.

Spine (Phila Pa 1976), 2018 Oct 01;43(19):E1143-E1151.
PMID: 29557927 DOI: 10.1097/BRS.0000000000002645

STUDY DESIGN: Retrospective study.
OBJECTIVE: To investigate the association between postoperative upper instrumented vertebrae (UIV) tilt angle with postoperative medial shoulder and neck imbalance.
SUMMARY OF BACKGROUND DATA: Studies had found that current recommendations for UIV selection were not predictive of good postoperative shoulder balance.
METHODS: A total of 98 patients with adolescent idiopathic scoliosis with Lenke 1/2 curves who underwent posterior spinal fusion between 2013 and 2014 with minimum follow-up of 2 years were recruited. Radiological parameters: UIV tilt angle, T1 tilt, cervical axis, and clavicle angle were measured preoperatively, postoperatively, and at final follow-up.
RESULTS: Mean age was 16.2 ± 6.2 years. Mean follow-up was 37.9 ± 6.5 months. There were 73.5% Lenke 1 and 26.5% Lenke 2 curves. Significant factors affecting postoperative T1 Tilt were postoperative UIV tilt angle, preoperative T1 tilt, and preoperative UIV tilt angle. Postoperative UIV tilt angle and preoperative cervical axis were significant factors affecting cervical axis at final follow-up. UIV level was not significant independent factor that affected postoperative T1 tilt and cervical axis. There was strong correlation between postoperative UIV tilt angle and T1 tilt for the whole cohort (P
The Reliability of Intraoperative Crossbar Technique in Determining the Upper Instrumented Vertebra (UIV) Tilt Angle for Adolescent Idiopathic Scoliosis (AIS) Undergoing Posterior Spinal Fusion

Kwan MK, Chiu CK, Goh SH, Ng SJ, Tan PH, Chian XH, et al.

Clin Spine Surg, 2019 Jul;32(6):256-262.
PMID: 30640749 DOI: 10.1097/BSD.0000000000000769

STUDY DESIGN: Retrospective study.
OBJECTIVE: This study looked into whether crossbar can reliably measure Upper Instrumend Vertebra (UIV) tilt angle intraoperatively and accurately predict the UIV tilt angle postoperatively and at final follow-up.
SUMMARY OF BACKGROUND DATA: Postoperative shoulder imbalance is a common cause of poor cosmetic appearance leading to patient dissatisfaction. There were no reports describing the technique or method in measuring the UIV tilt angle intraoperatively. Therefore, this study was designed to look into the reliability and accuracy of the usage of intraoperative crossbar in measuring the UIV tilt angle intraoperatively.
METHODS: Lenke 1 and 2 Adolescent Idiopathic Scoliosis patients who underwent instrumented Posterior Spinal Fusion using pedicle screw constructs with minimum follow-up of 24 months were recruited for this study. After surgical correction, intraoperative UIV tilt angle was measured using a crossbar. Immediate postoperative and final follow up UIV tilt angle was measured on the standing anteroposterior radiographs.
RESULTS: A total of 100 patients were included into this study. The reliability of the intraoperative crossbar to measure the optimal UIV tilt angle intraoperatively was determined by repeated measurements by assessors and measurement by different assessors. We found that the intra observer and inter observer reliability was very good with intraclass correlation coefficient values of >0.9. The accuracy of the intraoperative crossbar to measure the optimal UIV tilt angle intraoperatively was determined by comparing this measurement with the postoperative UIV tilt angle. We found that there was no significant difference (P>0.05) between intraoperative, immediate postoperative, and follow-up UIV tilt angle.
CONCLUSIONS: The crossbar can be used to measure the intraoperative UIV tilt angle consistently and was able to predict the postoperative UIV tilt angle. It was a cheap, simple, reliable, and accurate instrument to measure the intraoperative UIV tilt angle.
Conformity and Changes in the Radiological Neck and Shoulder Balance Parameters Throughout 3-Year Follow-up Period: Do They Remain the Same?

Chiu CK, Chan CYW, Tan PH, Goh SH, Ng SJ, Chian XH, et al.

Spine (Phila Pa 1976), 2020 Mar 15;45(6):E319-E328.
PMID: 31593064 DOI: 10.1097/BRS.0000000000003275

STUDY DESIGN: Retrospective study.
OBJECTIVE: The primary objective of this study was to assess the conformity of the radiological neck and shoulder balance parameters throughout a follow-up period of more than 2 years.
SUMMARY OF BACKGROUND DATA: Postoperative shoulder and neck imbalance are undesirable features among Adolescent Idiopathic Scoliosis patients who underwent Posterior Spinal Fusion. There are many clinical and radiological parameters used to assess this clinical outcome. However, we do not know whether these radiological parameters conform throughout the entire follow-up period.
METHODS: This was a retrospective study done in a single academic institution. Inclusion criteria were patients with scoliosis who underwent posterior instrumented spinal fusion with pedicle screw fixation and attended all scheduled follow-ups for at least 24 months postoperatively. Radiological shoulder parameters were measured from both preoperative antero-posterior and postoperative antero-posterior radiographs. Lateral shoulder parameters were: Radiographic Shoulder Height, Clavicle Angle (Cla-A), Clavicle-Rib Intersection Difference, and Coracoid Height Difference. Medial shoulder and neck parameters were: T1 Tilt and Cervical Axis (CA).
RESULTS: The radiographs of 50 patients who had surgery done from November 2013 to November 2015 were analyzed. Mean age of this cohort was 16.3 ± 7.0 years. There were 38 (76%) female patients and 12 (24%) male patients. Mean final follow-up was 38.6 ± 5.8 months. When conformity assessment of the radiological parameter using the interclass coefficient correlation was done, we found that all parameters had significant correlation (P
Fulltext The impact of COVID-19 pandemic on gender-related work from home in STEM fields-Report of the WiMPBME Task Group

Frize M, Lhotska L, Marcu LG, Stoeva M, Barabino G, Ibrahim F, et al.

Gend Work Organ, 2021 Apr 28.
PMID: 34230783 DOI: 10.1111/gwao.12690

The COVID-19 pandemic has forced many people, including those in the fields of science and engineering, to work from home. The new working environment caused by the pandemic is assumed to have a different impact on the amount of work that women and men can do from home. Particularly, if the major burden of child and other types of care is still predominantly on the shoulders of women. As such, a survey was conducted to assess the main issues that biomedical engineers, medical physicists (academics and professionals), and other similar professionals have been facing when working from home during the pandemic. A survey was created and disseminated worldwide. It originated from a committee of International Union for Physical and Engineering Sciences in Medicine (IUPESM; Women in Medical Physics and Biomedical Engineering Task Group) and supported by the Union. The ethics clearance was received from Carleton University. The survey was deployed on the Survey Monkey platform and the results were analyzed using IBM SPSS software. The analyses mainly consisted of frequency of the demographic parameters and the cross-tabulation of gender with all relevant variables describing the impact of work at home. A total of 921 responses from biomedical professions in 76 countries were received: 339 males, 573 females, and nine prefer-not-to-say/other. Regarding marital/partnership status, 85% of males were married or in partnership, and 15% were single, whereas 72% of females were married or in partnership, and 26% were single. More women were working from home during the pandemic (68%) versus 50% of men. More men had access to an office at home (68%) versus 64% for women. The proportion of men spending more than 3 h on child care and schooling per day was 12%, while for women it was 22%; for household duties, 8% of men spent more than 3 h; for women, this was 12.5%. It is interesting to note that 44% of men spent between 1 and 3 h per day on household duties, while for women, it was 55%. The high number of survey responses can be considered excellent. It is interesting to note that men participate in childcare and household duties in a relatively high percentage; although this corresponds to less hours daily than for women. It is far more than can be found 2 and 3 decades ago. This may reflect the situation in the developed countries only-as majority of responses (75%) was received from these countries. It is evident that the burden of childcare and household duties will have a negative impact on the careers of women if the burden is not more similar for both sexes. It is important to recognize that a change in policies of organizations that hire them may be required to provide accommodation and compensation to minimize the negative impact on the professional status and career of men and women who work in STEM fields.
The changing pattern of primary glomerulonephritis in Singapore and other countries over the past 3 decades

Woo KT, Chan CM, Mooi CY, -L-Choong H, Tan HK, Foo M, et al.

Clin. Nephrol., 2010 Nov;74(5):372-83.
PMID: 20979946

This review of 2,586 renal biopsies over the past 3 decades in Singapore documents the changing pattern of glomerulonephritis (GN) from that of a third world country to that of a developed nation. In the 1st decade, mesangial proliferative glomerulonephritis was the most common form of primary GN, just as it was in the surrounding Asian countries. In the 2nd decade, the prevalence of mesangial proliferative GN decreased with a rise in membranous, GN which is also seen in China and Thailand. In the 3rd decade, there was a dramatic increase in focal sclerosing glomerulosclerosis. This increase reflects aging and obesity in keeping with more developed countries like Australia, India, Thailand and the United States of America. IgA nephritis remains the most common GN. Apart from the geographical influence, other socioeconomic factors play a significant role in the evolution of the renal biopsy pattern. Mesangial proliferative GN remains prevalent in many Asian countries, but in Singapore the prevalence is decreasing just as it is in Japan, Korea and Malaysia. Worldwide, the prevalence of focal sclerosing glomerulosclerosis continues to increase in many countries.
Changes in primary glomerulonephritis in Singapore over four decades 

Woo KT, Chan CM, Lim C, Choo J, Chin YM, Teng WL, et al.

Clin. Nephrol., 2019 Mar;91(3):155-161.
PMID: 30663975 DOI: 10.5414/CN109577

This review of 3,289 native kidney biopsies over the past four decades in Singapore documents the changing pattern of biopsy-proven glomerulonephritis (GN)from that of a third world country to that of a developed nation. In the 1st decade, mesangial proliferative GN was the most common form of primary GN, similar to the Asian region. In the 2nd decade, the percentage of mesangial proliferative GN decreased, but membranous GN became more common, as was seen in China and Thailand. In the 3rd decade, focal segmental glomerulosclerosis (FSGS) and membranous nephropathy continued to rise, but it was only recently, in the 4th decade, that FSGS prevalence increased dramatically, although membranous nephropathy continues to increase in some Asian countries. In the last decade in Singapore, Malaysia, and Japan, prevalence of IgA nephritis has decreased but remains the most common GN. The percentage of FSGS continues to increase in many countries like in Italy, United States of America, United Kingdom, China, and Malaysia. We surmise that socioeconomic factors play significant roles in the evolution of the renal biopsy pattern. .
Fulltext Metaplastic breast cancers frequently express immune checkpoint markers FOXP3 and PD-L1

Kalaw E, Lim M, Kutasovic JR, Sokolova A, Taege L, Johnstone K, et al.

Br J Cancer, 2020 11;123(11):1665-1672.
PMID: 32939056 DOI: 10.1038/s41416-020-01065-3

BACKGROUND: Metaplastic breast carcinoma encompasses a heterogeneous group of tumours with differentiation into squamous and/or spindle, chondroid, osseous or rhabdoid mesenchymal-looking elements. Emerging immunotherapies targeting Programmed Death Ligand 1 (PD-L1) and immune-suppressing T cells (Tregs) may benefit metaplastic breast cancer patients, which are typically chemo-resistant and do not express hormone therapy targets.
METHODS: We evaluated the immunohistochemical expression of PD-L1 and FOXP3, and the extent of tumour infiltrating lymphocytes (TILs) in a large cohort of metaplastic breast cancers, with survival data.
RESULTS: Metaplastic breast cancers were significantly enriched for PD-L1 positive tumour cells, compared to triple-negative ductal breast cancers (P
Fulltext Outcome after neoadjuvant chemotherapy in Asian breast cancer patients

Lim LY, Miao H, Lim JS, Lee SC, Bhoo-Pathy N, Yip CH, et al.

Cancer Med, 2017 Jan;6(1):173-185.
PMID: 28000426 DOI: 10.1002/cam4.985

We aim to identify clinicopathologic predictors for response to neoadjuvant chemotherapy and to evaluate the prognostic value of pathologic complete response (pCR) on survival in Asia. This study included 915 breast cancer patients who underwent neoadjuvant chemotherapy at five public hospitals in Singapore and Malaysia. pCR following neoadjuvant chemotherapy was defined as 1) no residual invasive tumor cells in the breast (ypT0/is) and 2) no residual invasive tumor cells in the breast and axillary lymph nodes (ypT0/is ypN0). Association between pCR and clinicopathologic characteristics and treatment were evaluated using chi-square test and multivariable logistic regression. Kaplan-Meier analysis and log-rank test, stratified by other prognostic factors, were conducted to compare overall survival between patients who achieved pCR and patients who did not. Overall, 4.4% of nonmetastatic patients received neoadjuvant chemotherapy. The median age of preoperatively treated patients was 50 years. pCR rates were 18.1% (pCR ypT0/is) and 14.4% (pCR ypT0/is ypN0), respectively. pCR rate was the highest among women who had higher grade, smaller size, estrogen receptor negative, human epidermal growth factor receptor 2-positive disease or receiving taxane-based neoadjuvant chemotherapy. Patients who achieved pCR had better overall survival than those who did not. In subgroup analysis, the survival advantage was only significant among women with estrogen receptor-negative tumors. Patients with poor prognostic profile are more likely to achieve pCR and particularly when receiving taxane-containing chemotherapy. pCR is a significant prognostic factor for overall survival especially in estrogen receptor-negative breast cancers.
Phenotypic and molecular dissection of metaplastic breast cancer and the prognostic implications

McCart Reed AE, Kalaw E, Nones K, Bettington M, Lim M, Bennett J, et al.

J Pathol, 2019 02;247(2):214-227.
PMID: 30350370 DOI: 10.1002/path.5184

Metaplastic breast carcinoma (MBC) is relatively rare but accounts for a significant proportion of global breast cancer mortality. This group is extremely heterogeneous and by definition exhibits metaplastic change to squamous and/or mesenchymal elements, including spindle, squamous, chondroid, osseous, and rhabdomyoid features. Clinically, patients are more likely to present with large primary tumours (higher stage), distant metastases, and overall, have shorter 5-year survival compared to invasive carcinomas of no special type. The current World Health Organisation (WHO) diagnostic classification for this cancer type is based purely on morphology - the biological basis and clinical relevance of its seven sub-categories are currently unclear. By establishing the Asia-Pacific MBC (AP-MBC) Consortium, we amassed a large series of MBCs (n = 347) and analysed the mutation profile of a subset, expression of 14 breast cancer biomarkers, and clinicopathological correlates, contextualising our findings within the WHO guidelines. The most significant indicators of poor prognosis were large tumour size (T3; p = 0.004), loss of cytokeratin expression (lack of staining with pan-cytokeratin AE1/3 antibody; p = 0.007), EGFR overexpression (p = 0.01), and for 'mixed' MBC, the presence of more than three distinct morphological entities (p = 0.007). Conversely, fewer morphological components and EGFR negativity were favourable indicators. Exome sequencing of 30 cases confirmed enrichment of TP53 and PTEN mutations, and intriguingly, concurrent mutations of TP53, PTEN, and PIK3CA. Mutations in neurofibromatosis-1 (NF1) were also overrepresented [16.7% MBCs compared to ∼5% of breast cancers overall; enrichment p = 0.028; mutation significance p = 0.006 (OncodriveFM)], consistent with published case reports implicating germline NF1 mutations in MBC risk. Taken together, we propose a practically minor but clinically significant modification to the guidelines: all WHO_1 mixed-type tumours should have the number of morphologies present recorded, as a mechanism for refining prognosis, and that EGFR and pan-cytokeratin expression are important prognostic markers. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN)

Lu L, Yap YC, Nguyen DQ, Chan YH, Ng JL, Zhang YC, et al.

Clin Genet, 2022 Jan 22.
PMID: 35064937 DOI: 10.1111/cge.14116

Multinational studies have reported monogenic etiologies in 25%-30% of children with steroid-resistant nephrotic syndrome. Such large studies are lacking in Asia. We established Deciphering Diversities: Renal Asian Genetics Network (DRAGoN) and aimed to describe the genetic and clinical spectrums in Asians. We prospectively studied a cohort of 183 probands with suspected genetic glomerulopathies from South and Southeast Asia, of whom 17% had positive family history. Using multi-gene panel sequencing, we detected pathogenic variants in 26 (14%) probands, of whom one-third had COL4A4 or COL4A5 variants (n = 9, 5%). Of those with COL4A5 defects, only 25% had features suggestive of Alport syndrome. Besides traditional predictors for genetic disease (positive family history and extrarenal malformations), we identified novel predictors, namely older age (6.2 vs. 2.4 years; p = 0.001), hematuria (OR 5.6; 95% CI 2.1-14.8; p 60% when a second risk factor (positive family history or extrarenal manifestation) co-existed. The genetic spectrum of glomerulopathies appears different in Asia. Collagen IV genes may be included in sequencing panels even when suggestive clinical features are absent.

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