Secondary Plasma Cell Leukaemia.

J Ayub Med Coll Abbottabad. 2020 Apr- Jun;32(2):277-279

Authors: Idris M, Farid J, Javed N

Abstract
Plasma cell leukaemia is a clinical condition in which plasma cells circulating in the peripheral blood constitute >20% of white blood cells (WBC) and there is evidence of plasma cell monoclonality. It is important to be diagnosed early for better treatment outcome. Although it is a rare disease, cases have been reported from Pakistan and other countries (including our neighbouring countries), hence making this case report. After taking history of present and past ailments, physical examination was carried out. Blood and bone marrow sampling were done after taking informed written consent from the patient. Blood samples were obtained in plain bottle, anticoagulated bottle and bone marrow was obtained from posterior iliac spine under 2% lignocaine. Plasma cell leukaemia is a rare and aggressive disease, difficult to diagnose and treat, requires early recognition and therapeutic intervention.

PMID: 32584011 [PubMed - indexed for MEDLINE]

Granular Cell Tumor: A Rare Breast Lesion.

Acta Med Port. 2020 Jan 03;33(1):61-64

Authors: Dutra S, Marques JC

Abstract
Granular cell tumors are uncommon, and are usually benign neoplasms that can mimic malignancy on breast imaging tests. These tumors can originate anywhere in the body and the breast accounts for only a few cases of all granular cell tumors. We report a case of a 54-year-old woman with a granular cell tumor of the breast presenting clinically on breast imaging (ultrasound, mammography and magnetic resonance) as a suspicious lesion. Core needle biopsy was performed for tissue diagnosis and was consistent with granular cell tumor that was confirmed in the histopathological report of the surgical specimen following a breast lumpectomy. Given the rarity of this tumor, we present this case to highlight this diagnostic hypothesis, that can be challenging and frequently confused with breast carcinoma.

PMID: 31928605 [PubMed - indexed for MEDLINE]

Long-term outcomes of patients with end-stage kidney disease due to membranoproliferative glomerulonephritis: an ANZDATA registry study.

BMC Nephrol. 2019 11 21;20(1):417

Authors: Wilson GJ, Cho Y, Teixiera-Pinto A, Isbel N, Campbell S, Hawley C, Johnson DW

Abstract
BACKGROUND: Membranoproliferative glomerulonephritis (MPGN) is an uncommon cause of end stage kidney disease (ESKD) and the clinical outcomes of patients with MPGN who commence kidney replacement therapy have not been comprehensively studied.
METHODS: All adult patients with ESKD due to glomerulonephritis commencing kidney replacement therapy in Australia and New Zealand from January 1, 1996 to December 31, 2016 were reviewed. Patients with ESKD due to MPGN were compared to patients with other forms of glomerulonephritis. Patient survival on dialysis and following kidney transplantation, kidney recovery on dialysis, time to transplantation, allograft survival, death-censored allograft survival and disease recurrence post-transplant were compared between the two groups using Kaplan Meier survival curves and Cox proportional hazards regression.
RESULTS: Of 56,481 patients included, 456 (0.8%) had MPGN and 12,660 (22.4%) had another form of glomerulonephritis. Five-year patient survival on dialysis and following kidney transplantation were similar between patients with ESKD from MPGN and other forms of glomerulonephritis (Dialysis: 59% vs. 62% p = 0.61; Transplant: 93% vs. 93%, p = 0.49). Compared to patients with other forms of glomerulonephritis, patients with MPGN had significantly poorer 5-year allograft survival (70% vs. 81% respectively, p = 0.02) and death censored allograft survival (74% vs. 87%, respectively; p < 0.01). The risk of disease recurrence was significantly higher in patients with MPGN compared to patients with other glomerulonephritidites (18% vs. 5%; p < 0.01). In patients with MPGN who had allograft loss, patients with MPGN recurrence had a significantly shorter time to allograft loss compared to patients with MPGN who had allograft loss due to any other cause (median time to allograft loss 3.2 years vs. 4.4 years, p < 0.01).
CONCLUSIONS: Compared with other forms of glomerulonephritis, patients with MPGN experienced comparable rates of survival on dialysis and following kidney transplantation, but significantly higher rates of allograft loss due to disease recurrence.

PMID: 31752734 [PubMed - indexed for MEDLINE]

16 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/11/11

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

16 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/11/11

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Penetration, distribution, and elimination of remofuscin/soraprazan in Stargardt mouse eyes following a single intravitreal injection using pharmacokinetics and transmission electron microscopic autoradiography: Implication for the local treatment of Stargardt's disease and dry age-related macular degeneration.

Pharmacol Res Perspect. 2020 Dec;8(6):e00683

Authors: Julien-Schraermeyer S, Illing B, Tschulakow A, Taubitz T, Guezguez J, Burnet M, Schraermeyer U

Abstract
Age-related macular degeneration (AMD) is the leading cause of blindness in older people in the developed world while Stargardt's disease (SD) is a juvenile macular degeneration and an orphan disease. Both diseases are untreatable and are marked by accumulation of lipofuscin advancing to progressive deterioration of the retinal pigment epithelium (RPE) and retina and subsequent vision loss till blindness. We discovered that a small molecule belonging to the tetrahydropyridoether class of compounds, soraprazan renamed remofuscin, is able to remove existing lipofuscin from the RPE. This study investigated the drug penetration, distribution, and elimination into the eyes of a mouse model for increased lipofuscinogenesis, following a single intravitreal injection. We measured the time course of concentrations of remofuscin in different eye tissues using high-performance liquid chromatography combined with mass spectroscopy (HPLC-MS). We also visualized the penetration and distribution of 3 H-remofuscin in eye sections up to 20 weeks post-injection using transmission electron microscopic (TEM) autoradiography. The distribution of silver grains revealed that remofuscin accumulated specifically in the RPE by binding to the RPE pigments (melanin, lipofuscin and melanolipofuscin) and that it was still detected after 20 weeks. Importantly, the melanosomes in choroidal melanocytes only rarely bind remofuscin emphasizing its potential to serve as an active ingredient in the RPE for the treatment of SD and dry AMD. In addition, our study highlights the importance of electron microscopic autoradiography as it is the only method able to show drug binding with a high intracellular resolution.

PMID: 33164337 [PubMed - in process]

[Pathophysiology and treatment of adult Langerhans cell histiocytosis].

Rinsho Ketsueki. 2020;61(9):1028-1034

Authors: Tojo A, Kobayashi M

Abstract
Langerhans cell histiocytosis (LCH) is a rare disease characterized by tissue infiltration of clusters of CD1a+/CD207+ histiocyte-like cells and a resultant surrounding inflammatory reaction. Because of its morphological similarity to cutaneous Langerhans cells, LCH was formerly named histiocytosis X in 1987. However, its cell lineage appears closely related to myeloid dendritic cells. In 2010, BRAF-V600E was detected in biopsy specimens from the majority of LCH patients. The subsequent observation of extracellular signal-regulated kinase phosphorylation in almost all LCH samples suggested that LCH was a neoplasm provoked by activation of the mitogen-activated protein (MAP) kinase pathway. Therefore, the 2016 Revised Classification by the Histiocyte Society defined LCH as an inflammatory myeloid neoplasm. Although a series of global and domestic clinical trials have improved the prognosis of pediatric LCH patients, no standard therapy with a high level of evidence for adult cases exists. Generally, LCH patients have a favorable prognosis, but delayed diagnosis and intervention may cause severe damage to the involved organs, resulting in a poor quality of life. Here we present recent advances in the pathophysiology and treatment of LCH to enlighten the understanding of this orphan disease.

PMID: 33162496 [PubMed - in process]

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.

Clin Genet. 2020 Nov 06;:

Authors: Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, Nguyen TTM, Salayev K, Chilton IT, Chung WK, Madden JA, Phornphutkul C, Agrawal PB, Houlden H, Campeau PM

Abstract
Phosphatidylinositol Glycan Anchor Biosynthesis class H (PIGH) is an essential player in the glycosylphosphatidylinositol (GPI) synthesis, an anchor for numerous cell membrane-bound proteins. PIGH deficiency is a newly described and rare disorder associated with developmental delay, seizures and behavioral difficulties. Herein, we report three new unrelated families with two different bix-allelic PIGH variants, including one new variant p.(Arg163Trp) which seems associated with a more severe phenotype. The common clinical features in all affected individuals is developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus and musculoskeletal anomalies. The two siblings homozygous for the p.(Arg163Trp) variant have severe symptoms including profound psychomotor retardation, intractable seizures, multiple bone fractures, scoliosis, loss of independent ambulation and delayed myelination on brain MRI. Serum iron levels were significantly elevated in one individual. All tested individuals with PIGH deficiency had normal alkaline phosphatase and CD16, a GPI-anchored protein (GPI-AP), was fggound to be decreased by 60% on granulocytes from one individual. This study expands the PIGH deficiency phenotype range towards the severe end of the spectrum with the identification of a novel pathogenic variant.

PMID: 33156547 [PubMed - as supplied by publisher]

Emerging Role for Linear and Circular Spermine Oxidase RNAs in Skeletal Muscle Physiopathology.

Int J Mol Sci. 2020 Nov 03;21(21):

Authors: Reinoso-Sánchez JF, Baroli G, Duranti G, Scaricamazza S, Sabatini S, Valle C, Morlando M, Casero RA, Bozzoni I, Mariottini P, Ceci R, Cervelli M

Abstract
Skeletal muscle atrophy is a pathological condition so far without effective treatment and poorly understood at a molecular level. Emerging evidence suggest a key role for circular RNAs (circRNA) during myogenesis and their deregulation has been reported to be associated with muscle diseases. Spermine oxidase (SMOX), a polyamine catabolic enzyme plays a critical role in muscle differentiation and the existence of a circRNA arising from SMOX gene has been recently identified. In this study, we evaluated the expression profile of circular and linear SMOX in both C2C12 differentiation and dexamethasone-induced myotubes atrophy. To validate our findings in vivo their expression levels were also tested in two murine models of amyotrophic lateral sclerosis: SOD1G93A and hFUS+/+, characterized by progressive muscle atrophy. During C2C12 differentiation, linear and circular SMOX show the same trend of expression. Interestingly, in atrophy circSMOX levels significantly increased compared to the physiological state, in both in vitro and in vivo models. Our study demonstrates that SMOX represents a new player in muscle physiopathology and provides a scientific basis for further investigation on circSMOX RNA as a possible new therapeutic target for the treatment of muscle atrophy.

PMID: 33153123 [PubMed - in process]

6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/11/06

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Intraparotid lymph node metastasis from a nasal septal carcinoma: an unusual source of the unknown primary.

BMJ Case Rep. 2020 Feb 25;13(2):

Authors: Williamson AJ, Haywood M, Awad Z

Abstract
Metastatic disease to the parotid lymph nodes typically occurs secondary to head and neck and cutaneous squamous cell carcinomas (SCC). Nasal septal SCC is an exceedingly rare primary cancer that rarely spreads to regional lymph nodes. A 39-year-old man presented with left-sided cervical lymphadenopathy and nasal polyposis. Initial assessment suggested that he may have a head and neck SCC of unknown origin with nodal deposits in close proximity to the parotid gland. Cross-sectional imaging did not reveal the primary source. After further review of imaging and examination under anaesthetic, the primary SCC was found on the left nasal septum. The patient ultimately required a type 1 craniofacial resection and adjuvant chemoradiotherapy to treat the disease. Thorough investigation of the 'unknown primary' SCC including cross-sectional imaging and endoscopic examination is essential for the diagnosis of rare and unusual primary SCCs. Nasal septal SCC can be successfully managed with combined modality treatment in the form of surgical resection and chemoradiotherapy.

PMID: 32102890 [PubMed - indexed for MEDLINE]

Rare case of infiltrative cardiomyopathy secondary to scleromyxoedema.

Intern Med J. 2020 01;50(1):127-128

Authors: Khandkar C, Vaidya K, Penglase R, Cai K, Shin JS, Hunyor I, Keech A, McGill N

PMID: 31943623 [PubMed - indexed for MEDLINE]

Identifying risk groups of infectious spondylitis in patients with end-stage renal disease under hemodialysis: a propensity score-matched case-control study.

BMC Nephrol. 2019 08 16;20(1):323

Authors: Lu KL, Huang WH, Lu YA, Lin CY, Wu HH, Hsu CW, Weng CH, Wu CY, Wu IW, Wu MY, Yen TH, Yang HY

Abstract
BACKGROUND: Patients with end-stage renal disease (ESRD) under hemodialysis (HD) are at greater risks of infectious spondylitis (IS), but there is no reliable predictor that facilitate early detection of this relatively rare and insidious disease.
METHODS: A retrospective review of the medical records from patients with ESRD under HD over a 12-year period was performed at a tertiary teaching hospital, and those with a first-time diagnosis of IS were identified. A 1:4 propensity score-matched case-control study was carried out, and baseline characteristics, underlying diseases, and laboratory data were compared between the study group and the control group, one month before the date of diagnosis or the index date respectively.
RESULTS: A total of 16 patients with IS were compared with 64 controls. After adjustment, recent access operation (odds ratio [OR], 13.27; 95% confidence interval [CI], 3.53 to 49.91; p <  0.001), degenerative spinal disease (OR, 12.87; 95% CI, 1.89 to 87.41; p = 0.009), HD through a tunneled cuffed catheter (OR, 6.75; 95% CI, 1.74 to 26.14; p = 0.006), low serum levels of hemoglobin, albumin, as well as high levels of red blood cell volume distribution width (RDW), alkaline phosphatase (ALP), and high sensitivity C-reactive protein were significant predictors for a IS diagnosis one month later. Receiver operating characteristic curves for hemoglobin, RDW, ALP, and albumin all showed good discrimination. The further multivariate models identified both high serum ALP levels and low serum RDW levels following a recent access intervention in patients with relatively short HD vintages may be indicative of the development of IS.
CONCLUSION: Patients under HD with relatively short HD vintages showing either elevated ALP levels or low RDW levels following a recent access intervention should prompt clinical awareness about IS for timely diagnosis.

PMID: 31419960 [PubMed - indexed for MEDLINE]

Differential methylation as a diagnostic biomarker of rare renal diseases: a systematic review.

BMC Nephrol. 2019 08 16;20(1):320

Authors: Kerr K, McAneney H, Flanagan C, Maxwell AP, McKnight AJ

Abstract
BACKGROUND: The challenges in diagnosis of rare renal conditions can negatively impact patient prognosis, quality of life and result in significant healthcare costs. Differential methylation is emerging as an important biomarker for rare diseases and should be evaluated for rare renal conditions.
METHODS: A comprehensive systematic review of methylation and rare renal disorders was conducted by searching the electronic databases MEDLINE, EMBASE, PubMed, Cochrane Library, alongside grey literature from GreyLit and OpenGrey databases, for publications published before September 2018. Additionally, the reference lists of the included papers were searched. Data was extracted and appraised including the primary focus, measurement and methodological rigour of the source. Eligibility criteria were adapted using the inclusion criteria from 'The 100,000 Genomes Project' and The National Registry of Rare Kidney Diseases, with additional focus on methylation.
RESULTS: Thirteen full text articles were included in the review. Diseases analysed for differential methylation included glomerular disease, IgA nephropathy, ADPKD, rare causes of proteinuria, congenital renal agenesis, and membranous nephropathy.
CONCLUSIONS: Differential methylation has been observed for several rare renal diseases, highlighting its potential for improving molecular characterisation of these disorders. Further investigation of methylation following a standardised reporting structure is necessary to improve research quality. Multi-omic data will provide insights for improved diagnosis, prognosis and support for individuals living and working with rare renal diseases.

PMID: 31419951 [PubMed - indexed for MEDLINE]

Very unusual case of a primary sinonasal germ cell tumour.

BMJ Case Rep. 2020 Feb 13;13(2):

Authors: Sadler KA, Hanna C, Melia L, White J

Abstract
Sinonasal malignancies are a very rare diagnosis. We present a unique case of a 32-year-old man who presented with symptoms of worsening sinusitis and periorbital cellulitis. Investigation found a sinonasal malignancy and pathology confirmed this to be a primary germ cell tumour. The patient was managed with chemotherapy, surgery and consolidation radiotherapy and has remained well to date. This case report outlines an unusual presentation and diagnostic challenge for the primary care physician, ear, nose and throat surgeon, pathologist and oncologist with review of the surrounding literature.

PMID: 32060110 [PubMed - indexed for MEDLINE]

Is gastric cancer becoming a rare disease? A global assessment of predicted incidence trends to 2035.

Gut. 2020 05;69(5):823-829

Authors: Arnold M, Park JY, Camargo MC, Lunet N, Forman D, Soerjomataram I

Abstract
OBJECTIVES: The incidence of gastric cancer continues to decrease globally, approaching levels that in some populations could define it as a rare disease. To explore this on a wider scale, we predict its future burden in 34 countries with long-standing population-based data.
METHODS: Data on gastric cancer incidence by year of diagnosis, sex and age were extracted for 92 cancer registries in 34 countries included in Cancer Incidence in Five Continents Plus. Numbers of new cases and age-standardised incidence rates (ASR per 100 000) were predicted up to 2035 by fitting and extrapolating age-period-cohort models.
RESULTS: Overall gastric cancer incidence rates are predicted to continue falling in the future in the majority of countries, including high-incidence countries such as Japan (ASR 36 in 2010 vs ASR 30 in 2035) but also low-incidence countries such as Australia (ASR 5.1 in 2010 vs ASR 4.6 in 2035). A total of 16 countries are predicted to fall below the rare disease threshold (defined as 6 per 100 000 person-years) by 2035, while the number of newly diagnosed cases remains high and is predicted to continue growing. In contrast, incidence increases were seen in younger age groups (below age 50 years) in both low-incidence and high-incidence populations.
CONCLUSIONS: While gastric cancer is predicted to become a rare disease in a growing number of countries, incidence levels remain high in some regions, and increasing risks have been observed in younger generations. The predicted growing number of new cases highlights that gastric cancer remains a major challenge to public health on a global scale.

PMID: 32001553 [PubMed - indexed for MEDLINE]

Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations.

JAMA Dermatol. 2020 02 01;156(2):191-195

Authors: Greco C, Leclerc-Mercier S, Chaumon S, Doz F, Hadj-Rabia S, Molina T, Boucheix C, Bodemer C

Abstract
Importance: Olmsted syndrome is a genodermatosis characterized by painful and mutilating palmoplantar keratoderma (PPK) that progresses from infancy onward and lacks an effective treatment. It is most often caused by mutations in the transient receptor potential vanilloid 3 (TRPV3) gene. In animal models and keratinocyte cell lines, TRPV3 signaling leads to epidermal growth factor receptor (EGFR) transactivation.
Objective: To examine the possibility of blocking EGFR transactivation with the inhibitor erlotinib hydrochloride to treat PPK in patients with Olmsted syndrome due to TRPV3 mutations.
Design, Setting, and Participants: In this case series, 3 patients from 2 unrelated families who had TRPV3-mutation-associated PPK were treated with erlotinib from May 5, 2018, through May 13, 2019.
Main Outcomes and Measures: Clinical follow-up included evaluation of PPK progression, pain and interventions for pain, as well as erlotinib dose adjustment based on treatment effect, plasma levels, and tolerance.
Results: The 3 patients (2 brothers aged 15 and 17 years and a 13-year-old girl) had severe palmoplantar hyperkeratosis, intolerable pain with erythromelalgia, severe growth delay, anorexia, and insomnia, which had been progressing since infancy despite numerous therapies. Two patients were confined to wheelchairs owing to intense pain and joint restrictions because of hyperkeratosis. All patients experienced depression and did not engage in social activities. Within 3 months of initiating therapy with erlotinib, hyperkeratosis and pain disappeared. All patients were able to touch the ground with their feet, wear shoes, and walk. Anorexia and insomnia remitted and paralleled improved growth. In addition, the patients resumed social activities. These improvements were sustained across 12 months of treatment and follow-up. The doses of erlotinib used were lower than those used in oncology, and only mild to moderate adverse effects were noted.
Conclusions and Relevance: The findings of this study report improvement of PPK in patients with Olmsted syndrome caused by TRPV3 mutations when treated with erlotinib. Targeting EGFR transactivation with erlotinib therapy may result in clinical remission in an orphan disease that lacks an effective intervention.

PMID: 31895432 [PubMed - indexed for MEDLINE]

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

J Clin Invest. 2020 03 02;130(3):1431-1445

Authors: Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MM, Waisfisz Q, Welner S, Kingston H, Hills JA, Boon EM, Basel-Salmon L, Konen O, Goldberg-Stern H, Bazak L, Tzur S, Jin J, Bi X, Bruccoleri M, McWalter K, Cho MT, Scarano M, Schaefer GB, Brooks SS, Hughes SS, van Gassen KLI, van Hagen JM, Pandita TK, Agrawal PB, Campeau PM, Yang XJ

Abstract
Epigenetic integrity is critical for many eukaryotic cellular processes. An important question is how different epigenetic regulators control development and influence disease. Lysine acetyltransferase 8 (KAT8) is critical for acetylation of histone H4 at lysine 16 (H4K16), an evolutionarily conserved epigenetic mark. It is unclear what roles KAT8 plays in cerebral development and human disease. Here, we report that cerebrum-specific knockout mice displayed cerebral hypoplasia in the neocortex and hippocampus, along with improper neural stem and progenitor cell (NSPC) development. Mutant cerebrocortical neuroepithelia exhibited faulty proliferation, aberrant neurogenesis, massive apoptosis, and scant H4K16 propionylation. Mutant NSPCs formed poor neurospheres, and pharmacological KAT8 inhibition abolished neurosphere formation. Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. The variants altered chromobarrel and catalytic domains of KAT8, thereby impairing nucleosomal H4K16 acetylation. Valproate was effective for treating epilepsy in at least 2 of the individuals. This study uncovers a critical role of KAT8 in cerebral and NSPC development, identifies 9 individuals with KAT8 variants, and links deficient H4K16 acylation directly to intellectual disability, epilepsy, and other developmental anomalies.

PMID: 31794431 [PubMed - indexed for MEDLINE]

Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease.

J Pediatr Hematol Oncol. 2020 05;42(4):310-312

Authors: Chabchoub I, Boudabbous H, Maaloul I, Ben Abdelaziz R, Ben Chehida A, Ayadi L, Kamoun T, Tebib N, Boudaouara T, Bekri S, Hachicha M

Abstract
Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening hyperinflammatory condition that may be triggered by infections, autoimmune and immunologic disorders, malignancies, and metabolic diseases. Early and accurate diagnosis of HLH and its underlying cause is of paramount importance for proper management and prognosis. We report the case of a Tunisian 21-month-old girl who initially presented clinical features of HLH related to a lysosomal acid lipase deficiency. The genetic sequence analysis of the LIPA gene revealed a never described homozygous mutation c.966G>C (p.Gln322His). The parents were heterozygous for this mutation. Enzyme replacement therapy was not provided for the patient. She received etoposide, corticosteroids, and cyclosporine for the HLH. She is waiting for hematopoietic stem cell transplantation. To the best of our knowledge, this is the second Tunisian case of secondary HLH complicating lysosomal acid lipase deficiency related to a new homozygous mutation: c.966G>C (p.Gln322His).

PMID: 31318819 [PubMed - indexed for MEDLINE]

Histiocytic Sarcoma.

Isr Med Assoc J. 2020 10;22(10):579-581

Authors: Tocut M, Vaknine H, Potachenko P, Elias S, Zandman-Goddard G

Abstract
BACKGROUND: Histiocytic sarcoma (HS) is a rare hematopoietic malignancy originating from the monocyte/macrophage bone marrow lineage. HS can occur in isolation or in association with other hematological neoplasms such as non-Hodgkin lymphoma (NHL), myelodysplasia, or acute leukemia. Clinically, HS can affect lymph nodes, gastrointestinal tract, skin, bone marrow, and spleen as well as the central nervous system. Most cases of HS follow an aggressive clinical course, with most patients dying of progressive disease within one year of diagnosis.

PMID: 33070490 [PubMed - indexed for MEDLINE]