Primary non-hodgkin Lymphomas of the Gastrointestinal Tract (GI-NHL)

Similar documents
MALT LYMPHOMA. Silvia Montoto, St Bartholomew s Hospital, London, UK ESMO Preceptorship on Lymphoma

MALT LYMPHOMA. Silvia Montoto, St Bartholomew s Hospital, London, UK ESMO Preceptorship on Lymphoma

Treatment: Gastric MALT lymphoma Anastasios Stathis, M.D.

Patient underwent hemicolectomy: 7 x 4.5 cm intusscepted segment of ileum in colon - mucosal

Regression of Advanced Gastric MALT Lymphoma after the Eradication of Helicobacter pylori

PRIMARY GASTRIC LYMPHOMA: CASE REPORT WITH REVIEW OF LITERATURE

Gastric MALT-lymphoma and Helicobacter pylori infection

NON HODGKINS LYMPHOMA: INDOLENT Updated June 2015 by Dr. Manna (PGY-5 Medical Oncology Resident, University of Calgary)

Large cell immunoblastic Diffuse histiocytic (DHL) Lymphoblastic lymphoma Diffuse lymphoblastic Small non cleaved cell Burkitt s Non- Burkitt s

Limited Role of Bone Marrow Aspiration and Biopsy in the Initial Staging Work-up of Gastric Mucosa-Associated Lymphoid Tissue Lymphoma in Korea

Indolent Lymphomas: Current. Dr. Laurie Sehn

Open questions in the treatment of Follicular Lymphoma. Prof. Michele Ghielmini Head Medical Oncology Dept Oncology Institute of Southern Switzerland

Key words : low-grade MALT lymphoma, epithelial change, empty lamina propria, B-cell clonality, H. pylori, eradication, long-term follow-up

FOLLICULARITY in LYMPHOMA

Non-Hodgkin lymphoma

Non-Hodgkin Lymphoma in Clinically Difficult Situations

Indolent Lymphomas. Dr. Melissa Toupin The Ottawa Hospital

Histopathology: gastritis and peptic ulceration

Non-Hodgkin lymphomas (NHLs) Hodgkin lymphoma )HL)

Indolent B-Cell Non-Hodgkin s Lymphomas

LYMPHOMA Joginder Singh, MD Medical Oncologist, Mercy Cancer Center

Nodular lymphocyte predominant Hodgkin lymphoma. Lymphoma Tumor Board. January 5, 2018

Update: Non-Hodgkin s Lymphoma

INTRODUCTION. See editorial on page 659. Background/Aims: We investigated the effectiveness of

PET-imaging: when can it be used to direct lymphoma treatment?

Lymphocyte Predominant Hodgkin s Lymphoma. Case Presentation. How would you treat the patient?

New Evidence reports on presentations given at EHA/ICML Bendamustine in the Treatment of Lymphoproliferative Disorders

7 Omar Abu Reesh. Dr. Ahmad Mansour Dr. Ahmad Mansour

Gastric MALT lymphoma and Helicobacter pylori

Mantle Cell Lymphoma

RADIOIMMUNOTHERAPY FOR TREATMENT OF NON- HODGKIN S LYMPHOMA

Bendamustine is Effective Therapy in Patients with Rituximab-Refractory, Indolent B-Cell Non-Hodgkin Lymphoma

Update in Lymphoma Imaging

EGILS consensus report. Gastric extranodal marginal zone B-cell lymphoma of MALT

Two Cases of Primary Gastric Lymphoma, Mucosa-Associated Lymphoid Tissue (MALT)-type

Clinical Commissioning Policy Proposition: Bendamustine with rituximab for relapsed indolent non-hodgkin s lymphoma (all ages)

LYMPHOMAS an overview of some subtypes of NHLs

Radiotherapy in DLCL is often worthwhile. Dr. Joachim Yahalom Memorial Sloan-Kettering, New York

A CASE OF PRIMARY THYROID LYMPHOMA. Prof Dr.Dilek Gogas Yavuz Marmara University School of Medicine Endocrinology and Metabolism Istanbul, Turkey

Lymphoma: What You Need to Know. Richard van der Jagt MD, FRCPC

TRANSPARENCY COMMITTEE OPINION. 27 January 2010

Small B-cell (Histologically Low Grade) Lymphoma

Indium-111 Zevalin Imaging

Case Report Mantle Cell Lymphoma Mimicking Rectal Carcinoma

Strategies for the Treatment of Elderly DLBCL Patients, New Combination Therapy in NHL, and Maintenance Rituximab Therapy in FL

12 th Annual Hematology & Breast Cancer Update Update in Lymphoma

DOI: /jemds/2014/1882 CASE REPORT

Mucosa-associated lymphoid tissue lymphoma of the urinary bladder

Radiation and Hodgkin s Disease: A Changing Field. Sravana Chennupati Radiation Oncology PGY-2

Aggressive Lymphomas - Current. Dr Kevin Imrie Physician-in-Chief, Sunnybrook Health Sciences Centre

Lymphoma/CLL 101: Know your Subtype. Dr. David Macdonald Hematologist, The Ottawa Hospital

Rituximab and Combination Chemotherapy in Treating Patients With Non- Hodgkin's Lymphoma

J Clin Oncol 23: by American Society of Clinical Oncology INTRODUCTION

CARE at ASH 2014 Lymphoma. Dr. Diego Villa Medical Oncologist British Columbia Cancer Agency Vancouver Cancer Centre

The case against maintenance rituximab in Follicular lymphoma. Jonathan W. Friedberg M.D., M.M.Sc.

GENETIC MARKERS IN LYMPHOMA a practical overview. P. Heimann Dpt of Medical Genetics Erasme Hospital - Bordet Institute

Outcome of DLBCL patients over 80 years: A retrospective survey from 4 Institutions

EQA SCHEME CIRCULATION 33 EDUCATIONAL SLIDES DR GRAEME SMITH MONKLANDS DGH

Dr. A. Van Hoof Hematology A.Z. St.Jan, Brugge. ASH 2012 Atlanta

Non-Hodgkin s Lymphomas Version

Notification to Implement Issued by pcodr: December 14, 2012

Primary Cutaneous CD30-Positive T-cell Lymphoproliferative Disorders

Disclosures for Dr. Peter Borchmann 48 th ASH Annual meeting, Orlando, Florida

The legally binding text is the original French version TRANSPARENCY COMMITTEE OPINION. 18 July 2012

Lancashire and South Cumbria Haematology NSSG Guidelines for Follicular Lymphoma:

BACKGROUND INFORMATION ON NON-HODGKIN S LYMPHOMA

Policy for Central Nervous System [CNS] Prophylaxis in Lymphoid Malignancies

CLINICAL MEDICAL POLICY

B-cell lymphoma vaccine (BiovaxID) for follicular non-hodgkin s lymphoma

Understanding your diagnosis. Dr Graham Collins Consultant Haemtologist Oxford University Hospitals

THE EORTC-GELA TREATMENT STRATEGY IN CLINICAL STAGES I-II HL Results of the H9-F and H9-U trials (#20982)

1. Please review the following table, make any changes you think are necessary and highlight those changes. Feel free to put notes on the next page

New Targets and Treatments for Follicular Lymphoma

Rituxan Hycela (rituximab and hyaluronidase human) (Subcutaneous)

2007 ANNUAL SITE STUDY HODGKIN S LYMPHOMA

Dr. Nicolas Ketterer CHUV, Lausanne SAMO, May 2009

PET-adapted therapies in the management of younger patients (age 60) with classical Hodgkin lymphoma

The treatment of DLBCL. Michele Ghielmini Medical Oncology Dept Oncology Institute of Southern Switzerland Bellinzona

Gela histological scoring system for post-treatment biopsies of patients with gastric MALT lymphoma is feasible and reliable in routine practice

NON HODGKINS LYMPHOMA: AGGRESSIVE Updated June 2015 by Dr. Manna (PGY-5 Medical Oncology Resident, University of Calgary)

Oncology General Principles L A U R I E S I M A R D B R E A S T S U R G I C A L O N C O L O G Y F E L L O W D E C E M B E R

CASE REPORTS INTRODUCTION

Conjunctival CD5+ MALT lymphoma and review of literatures

Predictive factors for regression of gastric MALT lymphoma after anti-helicobacter pylori treatment

Clinical features and management of primary colonic lymphoma

Low grade Non-Hodgkin Lymphoma: New Therapies & Updates

First Line Management of Classical Hodgkin Lymphoma

The gastrointestinal (GI) tract is a site of continual

Blood Cancers. Blood Cells. Blood Cancers: Progress and Promise. Bone Marrow and Blood. Lymph Nodes and Spleen

Are we making progress? Marked reduction in operative morbidity and mortality

Burkitt lymphoma. Sporadic Endemic in Africa associated with EBV Translocations involving MYC gene on chromosome 8

Lymphoma Read with the experts

FOLLICULAR LYMPHOMA: US vs. Europe: different approach on first relapse setting?

Localised gastrointestinal diffuse large B cell lymphomas; Does surgical approach still exist?

HIV ASSOCIATED LYMPHOMA. Dr N Rapiti

Radiotherapy of Follicular Lymphoma: Updated Role and New Rules

L impatto dell imaging sulla definizione della strategia terapeutica

Role of Helicobacter pylori in gastric mucosa-associated lymphoid tissue lymphomas

We are IntechOpen, the first native scientific publisher of Open Access books. International authors and editors. Our authors are among the TOP 1%

Adjuvant Chemotherapy for Rectal Cancer: Are we making progress?

Transcription:

Portorož, Slovenia, June 15-16, 2007 Falk Symposium 160 Pathogenesis and Clinical Practice in Gastroenterology Primary non-hodgkin Lymphomas of the Gastrointestinal Tract (GI-NHL) Emanuele Zucca, M.D. Istituto Oncologico della Svizzera Italiana Oncology Institute of Southern Switzerland

GI-NHL Epidemiology GI tract is the most frequent extranodal site in NHL (20%-40% in clinical series) GI involvement: 50%-70% in postmortem studies The stomach represents 50-75% of the GI tract localisations in western countries The incidence of gastric lymphoma is ~0.7-0.8 cases per 100,000 inhabitants in Western Europe Lymphoma affecting the stomach, but not other sites, is associated with previous H. pylori infection IPSID is associated with Campylobacter jejuni

Definition of Primary GI Lymphoma Strict criteria for gastric NHL (Dawson, 1961) predominant gastric lesion no lymph nodes no liver or spleen normal blood count Relaxed criteria for gastric NHL (Levin, 1978; Herrmann, 1980) contiguous involvement of liver, spleen, bowel, diaphragm, regional nodes gastric lymphomas as a sole or dominant site of involvement General criteria for extranodal NHL (D Amore, 1991) clinically dominant extranodal component after routine staging procedures no lymph nodes or only minor nodal involvement (i.e., 25% of total tumor volume)

GI-NHL: Histologic Classification GI-NHL do not fit into a single category but correspond to the different subtypes described by the WHO classification (only the EATCL is strictly typical of the GIT) B-cell Extranodal Marginal Zone B-cell lymphoma of MALT type (including IPSID) DLCL (including those arising at MALT sites) Mantle cell (Lymphomatous polyposis) Burkitt s Follicular lymphoma other types corresponding to nodal equivalents T-cell Enteropathy associated T-cell lymphoma (EATCL) Other types not associated with enteropathy

German Multicenter Study GIT NHL 02/96 Distribution of histologic subtypes in 393 patients with localized primary gastric lymphoma Koch et al. JCO, 2005

Distribution of WHO histologic types in localized GI-NHL at BCCA 1981-2003 Intestine (N=91) Stomach (N=85) DLCL 70% 60% MALT type 7% 35% Follicular 17% --- Other types 6% 5% TN Shenkier and JM Connors, 2006

MALT lymphoma (Extranodal Marginal Zone B-Cell Lymphoma of Mucosa-Associated Lymphoid-Tissue ) HISTOLOGICAL FEATURES AND PHENOTYPE centrocyte-like cells (usually) lymphoepithelial lesions plasma cell differentiation scattered transformed blasts admixed non-neoplastic T-cell follicular colonisation sig (usually IgM + and IgD - ) CD20, CD21, CD35 positive; CD5, CD10, CD23 negative

The H. pylori and Gastric MALT Lymphoma Story 72-90% prevalence of H. pylori infection in gastric MALT lymphoma (Wotherspoon 1991, Nakamura 1997) high prevalence of both H. pylori infection and gastric MALT lymphomas in North-eastern Italy (Doglioni 1992) eradication of H. pylori leads to histological regression of low-grade gastric lymphoma (Wotherspoon 1993) previous H. pylori infection more likely in gastric lymphoma than in matched non-gastric lymphoma controls (Parsonnet 1994) molecular detection in previous gastritis specimens of the clonal B-cell that will give rise to the MALToma (Zucca 1998)

H. pylori and MALT lymphoma a model of tumor progression B B B B B B B B B H. pylori-dependent MALT lymphoma neutrophils activations with release of genotoxic free radicals genetic alterations H. pylori chronic gastritis B B B B B B B B-cell proliferation strain-specific stimulation contact-dependent B-cell stimulation antigen selection autoimmunity T T T T T mucosal T-cell proliferation additional genetic damages H. pylori-independent MALT lymphoma diffuse large B-cell lymphoma

Different chromosomal translocations affecting the same signalling pathway in MALT lymphoma rare t(1;14) BCL10 deregulation common t(11;18) CagA+ strains API2/MALT1 fusion NF-kB activation Antibiotic-resistant gastric lymphoma at non-gi sites t(14;18) MALT 1 deregulation? more recently described t(3;14) FOXP1 overexpression poorer outcome and higher risk of histological transformation

MALT lymphoma, one and the same: Extranodal Marginal Zone B-Cell Lymphoma of mucosa-associated lymphoid-tissue Low-grade MALT lymphoma MALToma Not the same: DLBCL arising at a MALT site (with or without any low-grade MALT component) NB: The term High-grade MALT should not be used!

Treatment options for gastric MALT lymphoma Non-randomised trials provide some evidence of activity for: Stage I and II Antibiotics Surgical excision Radiation Chemotherapy Rituximab Stage III and IV Chemotherapy Rituximab

Stage I gastric MALT lymphoma: Response to antibiotics Reference n staging % CR time No. of procedure to CR relapses (months) Wotherspoon, 1993 6 US 83 --- --- Savio, 1996 12 CT 84 2-4 0 Pinotti, 1997 45 CT 67 3-18 2 Neubauer, 1997 50 CT±EUS 80 1-9 5 Nobre Leitao, 1998 17 CT+EUS 100 1-12 1 Steinbach, 1999 23 CT±EUS 56 3-45 0 Montalban, 2001 19 CT±EUS 95 2-19 0 Ruskone-Formestraux, 2001 24 CT+EUS 79 2-18 2 Bertoni, 2002 189 CT 56 3-24 15

Response evaluation in gastric MALToma following anti-helicobacter therapy Complete histologic remission (CR) residual lymphoma cells cannot be detected and an empty lamina propria is found with only small basal clusters of lymphocytes and plasma cells Partial remission (PR) partial depletion of lymphoid cells from the lamina propria or focal lymphoepithelial destruction Neubauer A, J Natl Cancer Inst 1997

Wotherspoon s Histologic score for gastric MALT lymphoma (Lancet 1993) Score Description Histological features CR PR NC 0 normal scattered plasma cells in lamina propria 1 chronic active gastritis small clusters of lymphocytes in lamina propria; no lymphoid follicles; no LELs 2 chronic active gastritis prominent lymphoid follicles with with lymphoid follicles surrounding mantle zone and plasma cells; no LELs 3 suspicious infiltrate, lymphoid follicles surrounded by small probably reactive lymphocytes that infiltrate in lamina propria and occasionally into epithelium 4 suspicious infiltrate, lymphoid follicles surrounded by probably lymphoma CCL cells that infiltrate diffusely in lamina propria and into epithelium in small groups 5 Low Grade MALT dense diffuse infiltrate of CCL cells in lymphoma lamina propria with prominent LELs LEL = lymphoepithelial lesion; CCL = centrocyte-like

GELA score for gastric MALT lymphoma (Copie-Bergmann et al, Gut 2003) CR complete histological remission pmrd probable minimal residual disease rrd responding residual disease NC no change Normal or empty LP and/or fibrosis with absent or scattered plasma cells and small lymphoid cells in the LP, no LEL Empty LP and/or fibrosis with aggregates of lymphoid cells or lymphoid nodules in the LP/MM and/or SM, no LEL Focal empty LP and/or fibrosis with dense, diffuse or nodular lymphoid infiltrate, extending around glands in the LP, focal LEL or absent Dense, diffuse or nodular lymphoid infiltrate, LEL usually present

GI-NHL follow-up Endoscopic and histological remission does not mean cure PCR assay for the detection of monoclonal B-cells remained positive in approximately 50% of histological CR clinical relevance and prognostic significance of molecular remission still to be ascertained Thiede, 2001 Bertoni, 2002 wait-and-see policy: safe if a close follow-up can be performed The neoplastic clone can re-expand but without the H. pylori stimulus this may remain a self-limiting event transient histological and molecular relapses and/or persistent clonality without lymphoma progression or histologic transformation Isaacson, 1999 Fischbach, 2002 Wundisch, 2005

LY03 Trial IELSG www.ielsg.org 233 patients registered, H.pylori eradicated with antibiotics in 97% 63% of patients with abnormal mucosa at registration achieved macroscopically normal gastric mucosa 56% histological lymphoma regression rate median time to lymphoma regression: 3-24 mos 3-year 5-year 5 year relapse relapse-free overall rate survival survival Observation 14% 79 % 98 % Chlorambucil 16 % 78 % 91 % Hancock et al. 9-ICML Lugano 2005

Prognostic factors (predicting a poor response to antibiotics) locally advanced disease (EUS) H. pylori-negative status t(11;18), nuclear BCL10 increased number of blasts and/or focal high-grade areas? concomitant autoimmune diseases? EUS staging in gastric MALT lymphoma Depth of parietal infiltration CR rate [95%CI] Mucosal 78% [52-94] Submucosa 43% [10-82] Muscularis propria 20% [0.5-71] Serosa 25% [0.6-80] No response in pts with nodal involvement Ruskone-Formestraux et al. 2001

Second-line Therapy Front-line antibiotics > 90% H.Pylori eradication ~ 50-100% histological CR < 10% recurrence? (problems with definition, increasing recurrences with longer follow-up?) How should we treat persistent or recurrent lymphoma after eradication therapy?

Consensus on 2 nd line Therapy? RT SX CT 7 Dutch centres 5 1 1 7 European centres 0 5 2 3 non-european 1 1 1 De Jong et al. Ann Oncol,1999

Excellent prognosis regardless of treatment in patients with stage IE gastric MALT lymphoma Treatment Antibiotics 45 5 67% 94% (65-99) Local treatment a 14 3 100% 92% (57-99) Chemotherapy 8 3 50% 75% (32-93) Combined modality b 5 1 100% 80% (20-97) Total n 72 additional tumors (n of pts) 12 CR rate 74% 5-year OS (95% CI) 89% (76-96) a surgery ± RT b surgery+ adjuvant chemotherapy Pinotti et al, 1997

Surgical therapy of gastric MALT lymphoma in the studies that take account of the MALT concept the results of surgical resection alone are excellent with 5-year survival rates of 85%-95% Cogliatti et al, 1991 Ruskone-Formestraux et al, 1991 but a total gastrectomy should be considered since MALT lymphoma is often multifocal Wotherspoon et al, 1992 Acute complications Long-term morbidity (e.g., dumping syndrome)

Radiotherapy in gastric MALToma Author n RT dose (Gy) FFP Burgers, 1988 24 20 WA+ 20 boost 83% at 4 yr Schechter, 1998 17 28-43 100% at 27 mo Tsang, 2001 9 20-30 100% at 5 yr Yahalom, 2002 51 30 median 89% at 4 yr Hitchcock, 2002 9 34 median 78%, 100% local

Questions regarding RT Optimal RT volume, dose and technique? Does RT provide durable local control? Does this really translate to cure? In a very indolent condition, is the potential toxicity cost acceptable? (gastric and renal damage, risk of second malignancy) RT Toxicity can be reduced using 3D conformal techniques and minimizing the RT dose to the kidneys and the liver

Continuous oral administration of single alkylating agents in MALT lymphoma 24 patients, 17 stage I and 7 stage IV Cyclophosphamide or Chlorambucil for 8-24 mos. 100% ORR (75%CR) 5-year EFS: 50% 5-year OS: 75% 5 relapses at initial sites (1 with transformation) Hammel et al. JCO, 1995

Phase II study of Cladribine (2-CdA, 0.12 mg/kg/d x5, q28 d) 26 patients, 19 gastric and 7 non-gastric MALToma 100% ORR (84% CR); higher CR rate in gastric (100%) than extragastric (43%) hematologic toxicity grade 3 in 35% Disease-free survival at 6.7 years was 78% for the patients with gastric disease, and 33% for those with extragastric The use of purine analogs might however be associated with an increased risk of secondary MDS Jäger et al., 2002 and 2006

Questions regarding CT No randomised trials published The combination of Chlorambucil, Mitoxantrone and Prednisone as well as the classic CVP have been reported to be active and well-tolerated and Fludarabine in combination with Mitoxantrone has also been found to be extremely active (Wohrer 2003; Zinzani 2004) Aggressive anthracycline-containing regimens are usually reserved for patients with histological transformations or with bulky masses Given the indolent course of gastric MALT lymphomas the need for aggressive regimens remains controversial.

Rituximab in Gastric MALT NHL Response to treatment with single agent Rituximab (375 mg/m 2 /weekly x4) No of pts. (%) Complete response 12 46 Partial Response 8 31 Stable Disease 6 23 good clinical activity of rituximab in gastric MALT lymphomas resistant/refractory to antibiotics or H. pylori-negative 11 of 12 CRs had stage I or II disease at study entry The t(11; 18)(q21; q21) was not a predictive marker of response. Martinelli et al. J Clin Oncol 2005

Provisional guidelines for the treatment of (gastric) MALToma Optimal therapy remains unresolved, but prognosis is usually excellent regardless of treatment: Initial antibiotic therapy in localized H.pylori-positive RT, CT and rituximab can be used in patients who do not respond to antibiotics. The choiche should consider the less toxic option for every single situation. Role of surgery to be redefined Rituximab to be further evaluated

INTERNATIONAL EXTRANODAL LYMPHOMA STUDY GROUP IELSG www.ielsg.org IELSG-19 Randomized trial in MALT lymphoma Chlorambucil alone vs Chlorambucil+ Rituximab vs Rituximab alone IELSG www.ielsg.org IELSG 25 phase II study of Bortezomib in pretreated MALT lymphomas Bortezomib 1,3 mg/m2 day 1, 4, 8, 11 in relapsed/refractory MALT lymphoma 1 prior systemic treatment (chemotherapy and/or immunotherapy) any extranodal site, any stage

Problems with surgery in GI- NHL 5-10% postoperative mortality rate with substantial immediate morbidity and long-term complications or discomfort related to gastrectomy Primary resectability rate of the study population is an important factor of positive selection: Surgery is possible only in 60-70% of cases because of disseminate disease or poor condition and only 50% of them can be completely resected Salles et al. Am J Med 90: 77-84, 1991 Law MM et al. J surgery Oncol 61:199-204, 1996 Bartlett DL et al. Ann surgery 223: 53-62, 1996

Management of Diffuse Large B-Cell Lymphoma of the Stomach Surgery has, historically, been the initial procedure of choice because it simultaneously solved diagnostic and therapeutic problems. Since endoscopy and CT scan have become generally available, the necessity of surgery for biopsy and staging has disappeared. Having conservative approaches proven successful, the need for routine gastrectomy has been eliminated. Surgery does not necessarily prevent complications, as episodes of bleeding or perforation have also been reported despite surgical resection Risk of bleeding or perforation during chemotherapy generally overestimated

Treatment of gastric DLBCL at the IOSI Localised stages 3-4 cycles R-CHOP followed by IF-RT or 6 8 cycles of R-CHOP (conformational techniques to reduced RT toxicity) Antibiotic therapy alone is investigational but can be added to chemotherapy at the clinician s discretion. Advanced-stage patients 6 8 cycles of R-CHOP

Special situations Mantle cell lymphoma and follicular lymphoma of small intestine can both present with multiple lesions (multiple lymphomatous polyposis). The prognosis for mantle cell lymphoma is poor in spite of aggressive chemotherapy, similar to its nodal equivalent. Rectal presentations are less common than other sites in the lower intestinal tract. Treatment usually includes chemotherapy and RT. Abdominoperineal resection should be discouraged, as there is no evidence that it improves local control or survival.

Special situations (cont.) The clinical course of EATCL is very unfavourable with death usually resulting from multifocal intestinal perforations due to ulcerating lymphoma. Very aggressive treatment is usually needed. Resolution of early-stage IPSID after antimicrobial therapy is possible and Campylobacter jejuni has been recently associated with this disease